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2015v1.0

Paediatrics

This page intentionally left blank

Paediatrics

FIFTH EDITION

Edited by

Tom Lissauer MB BChir FRCPH

Honorary Consultant Paediatrician, Imperial College Healthcare Trust, London, UK Ce ntre for International Child Health, Imperial

College London, UK

Will Carroll BM BCh MD MRCPCH

Consultant in Paediatric Respiratory Medicine,

University Hospital of the North Midlands, Stoke-on-Trent, UK

Foreword by

Professor Sir Alan Craft

Emeritus Professor of Child Health, Newcastle University,

Past President Royal College of Paediatrics and Child Health

First edition 1997 Second edition 2001 Third edition 2007 Fourth Edition 2012

The right of Tom Lissauer and Will Carroll to be identified as author of this work has b een asserted by them in accordance with the

No part of this publication may be reproduced or transmitted in any form or by any me ans, electronic or mechanical, including

photocopying, recording, or any information storage and retrieval system, without per mission in writing from the publisher. Details on

how to seek permission, further information about the Publisher’s permissions p olicies and our arrangements with organizations such as

the Copyright Clearance Centre and the Copyright Licensing Agency, can be found at our w ebsite: www.elsevier.com/permissions.

This book and the individual contributions contained in it are protected under copyright by the Publisher (other than as may be noted

herein).

Notices

Knowledge and best practice in this field are constantly changing. As new research and experience broaden our understanding, changes

in research methods, professional practices, or medical treatment may become necessary.

Practitioners and researchers must always rely on their own experience and knowledge in evaluating and using any information,

methods, compounds, or experiments described herein. In using such information or methods they should be mindful of their own safety

and the safety of others, including parties for whom they have a professional respon sibility.

With respect to any drug or pharmaceutical products identified, readers are advised to check the most current information provided (i) on

procedures featured or (ii) by the manufacturer of each product to be administered, to ve rify the recommended dose or formula, the

method and duration of administration, and contraindications. It is the responsibility of prac titioners, relying on their own experience and

knowledge of their patients, to make diagnoses, to determine dosages and the best treatment for each individual patient, and to take all

appropriate safety precautions.

To the fullest extent of the law, neither the Publisher nor the authors, contributors, or ed itors, assume any liability for any injury and/or

damage to persons or property as a matter of products liability, negligence or otherwise, or from any use or operation of any methods,

products, instructions, or ideas contained in the material herein.

ISBN: 978-0-7234-3871-7 978-0-7234-3872-4

The

publisher’s

policy is to use

paper manufactured from sustainable forests

Printed in Europe

Last digit is the print number: 9 8 7 6 5 4 3 2 1

Content Strategist: Pauline Graham

Content Development Specialist: Fiona Conn Project Manager: Anne Collett

Design: Miles Hitchen

Illustration Manager: Amy Heyden

Illustrator: Graphic World US, Cactus

Marketing Manager: Deborah Watkins

Contents

Foreword vi Preface vii List of Contributors viii Acknowledgements xii

1. The child in society 1

2. History and examination 9

3. Normal child development, hearing and vision 27

4. Developmental problems and the child with special needs 44

5. Care of the sick child and young person 64

6. Paediatric emergencies 80

7. Accidents and poisoning 97

8. Child protection 109

9. Genetics 121

10. Perinatal medicine 142

11. Neonatal medicine 166

12. Growth and puberty 194

13. Nutrition 211

14. Gastroenterology 234

15. Infection and immunity 256

16. Allergy 288

17. Respiratory disorders 294

18. Cardiac disorders 320

19. Kidney and urinary tract disorders 344

20. Genital disorders 367

21. Liver disorders 375

22. Malignant disease 385

23. Haematological disorders 401

24. Child and adolescent mental health 424

25. Dermatological disorders 442

26. Diabetes and endocrinology 453

27. Inborn errors of metabolism 472

28. Musculoskeletal disorders 482

29. Neurological disorders 500

30. Adolescent medicine 525

31. Global child health 535

Appendix 544 Index 560

Foreword

When the late Frank A. Oski wrote the foreword for the first edition of this book in 1997, he gave it g enerous praise and predicted that it

would become a ‘standard by which all other medical textbooks will be judged’. H e was a great man and a wonderful writer, so his

prediction was no doubt welcomed by the editors, Tom Lissauer and Graham Clayd en, both well known for their contribution to

undergraduate and postgraduate medical education and assessment.

I have a much easier task in writing the foreword for the fifth edition. The mere fact t hat there is a fifth edition is testimony in itself, but

there is also the fact that this book has become the recommende d paediatric textbook in countless medical schools throughout the world

and has been translated into 12 languages. I have travelled the world over the last 20 y ears and wherever I have been in a paediatric

department, the distinctive sunflower cover of Lissauer’s Illustrated Textbook of Paediatrics has been there with me. Whether it is Hong

Kong, Malaysia, Oman, or South Shields, it is there!

It is not surprising that it has won major awards for innovation and excellence at th e British Medical Association and Royal Society of

Medicine book awards. The book is well established and widely read for the simple reason that it is an excellent book. Medicine is now

so complex and information so vast that students are no longer expected to know all there is to know about medicine. What they need

are the core principles and guidance as to where to find out more. This book not only gives the core principles, but also provides a great

deal more for the student who wishes to extend his or her knowledge. It is in a very accessible form and has a style and layout which

facilitates learning. There are many diagrams, illustratio ns and case histories to bring the subject to life and to impart important

messages. This new edition includes summaries to help revision and there is also a companion boo k for self-assessment.

This edition has a new editor, Will Carroll, who has succeeded Graham Clayden, and is also a paediatrician with great expertise in

medical education and assessment. He has helped ensure that the book continues to provide the paediatric information medical students

need. It has been thoroughly updated and has many new authors, each of whom is an exper t in their field and who has been chosen

because of their ability to impart the important principles in a non-specialist way. The book continues to focus on the key topics in the

undergraduate curriculum, and in keeping with this aim there are new, ex panded chapters on child protection and global child health.

There are now countless doctors throughout the world for whom this textbook has been their introduction to the fascinating and

rewarding world of paediatrics.

For students, it is all they need to know and a bit more. For postgraduates, it provid es the majority of information needed to get through

postgraduate examinations. It stimulates and guides the reader into the w orld of clinical paediatrics, built on the sound foundation of the

knowledge base provided by this book.

The editors are to be congratulated on the continuing success of this book.

I can only echo what Frank Oski said in his preface to the first edition: ‘I wish I had wri tten this book’!

Professor Sir Alan Craft Emeritus Professor of Child Health, Newcastle University P ast President Royal College of Paediatrics and

Child Health

Preface

Children are frequent users of healthcare. In the UK approximately one-third of all health consultations are about a child. Therefore, a

good working knowledge of paediatrics is essential for all doctors and is a major part of the u ndergraduate medical syllabus. This

textbook has been written to assist undergraduates in their studies. Our aim has been to provide the core information required by medical

students for the 6 to 10 weeks assigned to paediatrics in the curriculum of most undergradu ate medical schools. We are delighted that it

has become so widely used, not only in the UK, but also in northern Europe, India, Pak istan, Australia, South Africa, and other countries.

We are also pleased that nurses, therapists and other health professionals who care for children have fou nd this book helpful. It will also

be of assistance to doctors preparing for postgraduate examinations such as the Diploma of Child Hea lth (DCH) and Membership of the

Royal College of Paediatrics and Child Health (MRCPCH).

The huge amount of positive feedback we have received on the firs t four editions from medical students, postgraduate docto rs and their

teachers in the UK and abroad has spurred us on to produce this new edition. The book has been fully updated , many sections rewritten,
new diagrams created and illustrations redone. There are new, separate chapters on ch ild protection and global child health to
accommodate their increasing importance in paediatric practice. There is also a co mpanion book of self-assessment questions.
In order to make learning from this book easier, we have included many diagrams and flow charts and  followed a lecture-note style with
short sentences and lists of important features. Illustrations have been used to help in the reco gnition of important signs or clinical
features. To make the topics more interesting and memorable, each ch apter begins with some highlights, key learning points are
identified, and case histories chosen to demonstrate particular aspects within their  clinical context. Summary boxes of important facts
have been included to help with revision.
We are fully aware of the short time allocated specifically to paediatrics in the curriculum of many  medical schools, in spite of the rapid
expansion in medical knowledge and therapies. We have therefore tried to focus on clinical pr esentation and principles rather than details
of management, whilst providing sufficient background information to understand the  care patients receive.
We would like to thank Graham Clayden, editor for the previous editions, for the fr esh ideas and inspiration he brought to the book, and
all our contributors, both to this and previous editions, without whom this book could not be p roduced. Thanks also to our families, in
particular Ann Goldman, Rachel and David and Sam Lissauer, and Lisa Carroll, Daniel, Steven , Natasha, and Belinda for their ideas and
assistance, and for their understanding of the time taken away from the family  in the preparation of this book.
We welcome any comments about the book. Tom Lissauer and Will Carroll
List of Contributors
Mark Anderson BM BS BSc BMedSci MRCPCH
Consultant Paediatrician, Great North Children’s Hospital, Newcastle upon Tyne Hospita ls NHS Foundation Trust, Newcastle upon
Tyne, UK 7. Accidents and poisoning
Ian W. Booth BSc MSc MD FRCP FRCPCH DCH DRCOG
Professor Emeritus, Paediatrics and Child Health, University of Birmingham,  UK
14. Gastroenterology
Robert Boyle BSc MB ChB MRCP PhD
Clinical Senior Lecturer in Paediatrics, Imperial College London and Honorary Consu ltant Paediatric Allergist, Imperial College
Healthcare NHS Trust, London, UK 16. Allergy
Will Carroll BM BCh MD MRCPCH
Consultant in Paediatric Respiratory Medicine, University Hospital of the North  Midlands, Stoke-onTrent, UK
17. Respiratory disorders
Subarna Chakravorty PhD MRCPCH FRCPath
Consultant Paediatric Haematologist, King’s College Hospital London, UK
23. Haematological disorders
Gabby Chow MBBChir MD MBA BSc BA DCH FRCPCH
Consultant Paediatric Neurologist, Nottingham Children’s Hospital, Queens Medical Centr e, Nottingham, UK
29. Neurological disorders
Angus J. Clarke BM BCh DM FRCP FRCPCH
Professor and Honorary Consultant in Clinical Genetics, Institute of Medical Genetics, Uni versity Hospital of Wales, Cardiff, UK
9. Genetics
Rory Conn MBBS BSc MRCPsych
Higher Trainee in Child and Adolescent Psychiatry, Tavistock and Portman NHS  Foundation Trust, London, UK
24. Child and adolescent mental health
Max Davie MB BChir MA MRCPCH
Consultant Community Paediatrician, Evelina London Children’s Hospital, Guy’s a nd St Thomas’ NHS Foundation Trust, London, UK
24. Child and adolescent mental health
Paul Dmitri BSc MBChB FRCPCH PhD
Honorary Professor of Child Health and Consultant in Paediatric Endocrinology, Sheff ield Children’s NHS Trust, Sheffield, UK
12. Growth and puberty

26. Diabetes and endocrinology
Rachel Dommett BMBS PhD BMedSci
Consultant Paediatrician in Haematology/Oncology, Bristol Royal Hospital for Childr en, Bristol, UK 22. Malignant disease
Saul Faust FRCPCH FHEA PhD
Professor of Paediatric Immunology & Infectious Diseases, University of South ampton and University Hospital Southampton NHS
Foundation Trust, Southampton, UK
15. Infection and immunity
Helen E Foster MB BS MD FRCPCH FRCP DCH CertClinEd
Professor of Paediatric Rheumatology, Newcastle University and
Honorary Consultant in Paediatric Rheumatology, Great North Children’s Hospital,
Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
28. Musculoskeletal disorders
Andrea Goddard MB BS MSc FRCPCH
Consultant Paediatrician, Imperial College Healthcare NHS Trust and Honorary Sen ior Lecturer in 
Paediatrics, Imperial College London, UK
8. Child protection
Anu Goenka MB ChB BSc DFSRH DTM&H MRCGP MRCPCH
Clinical Research Fellow, Manchester Collaborative Centre for Inflammation Research, Univ ersity of Manchester, Manchester, UK and
Honorary Specialist Registrar in Paediatric 
Immunology, Royal Manchester Children’s Hospital, Manchester, UK
31. Global child health
Jane Hartley MB ChB MRCPCH MMedSc PhD
Consultant Paediatric Hepatologist, Birmingham Children’s Hospital, Birmingham, U K
21. Liver disorders
David P. Inwald MB BChir PhD FRCPCH
Consultant Paediatrician and Honorary Senior Lecturer in Paediatric Intensive Care,  Imperial College Healthcare NHS Trust, London,
UK
6. Paediatric emergencies
Elisabeth Jameson MBBCh BSc MSc MRCPCH
Consultant in Paediatric Inborn Errors of Metabolism, Manchester Centre for Genomic  Medicine, Central Manchester University
Hospitals NHS Foundation Trust, St Marys Hospital, Manchester, UK
27. Inborn errors of metabolism
Sharmila Jandial MBChB MRCPCH MD
Consultant Paediatric Rheumatologist, Great North Children’s Hospital, Newcastle upon Tyne , UK and Honorary Clinical Senior
Lecturer, Newcastle University, UK
28. Musculoskeletal disorders
Huw Jenkins MB BChir MA MD FRCP FRCPCH DL
Consultant Paediatric Gastroenterologist, Children’s Hospital for Wales, Cardiff, UK
14. Gastroenterology
Deirdre Kelly MD FRCP FRCPI FRCPCH
Professor of Paediatric Hepatology, Birmingham Children’s Hospital, Birmingham, UK
21. Liver disorders
Larissa Kerecuk MBBS BSc FRCPCH
Consultant Paediatric Nephrologist, Birmingham Children’s Hospital, Birmingh am, UK
19. Kidney and urinary tract disorders
Anthony Lander PhD FRCS (Paed) DCH

Consultant Paediatric Surgeon, Birmingham Children’s Hospital, Birmingham, UK
14. Gastroenterology
Tom Lissauer MB BChir FRCPCH
Honorary Consultant Paediatrician, Imperial College Healthcare Trust, London, UK a nd
Centre for International Child Health, Imperial College London, UK
2. History and examination
5. Care of the sick child and young person
10. Perinatal medicine
11. Neonatal medicine
20. Genital disorders
Andrew Long MA MB FRCP FRCPCH FAcadMEd DCH
Vice President (Education), Royal College of Paediatrics and Child Health; Consultant Paediatricia n, Great Ormond Street Hospital,
London, UK
5. Care of the sick child and young person
Chloe Macaulay BA MBBS MRCPCH MSc PGCertMedEd
Consultant Paediatrician, Evelina London Children’s Hospital, London UK
2. History and examination
Janet McDonagh MB BS MD
Senior Lecturer in Paediatric and Adolescent Rheumatology, Centre for Musculoskeletal Res earch, University of Manchester, UK
30. Adolescent medicine
Dan Magnus BM BS BMedSci MSc MRCPCH
Paediatric Emergency Consultant, Bristol Royal Hospital for Children, Bristol, UK
31. Global child health
Daniel Morgenstern MB BChir PhD FRCPCH
Staff Physician – Solid Tumor Program, Assistant Professor, Department of Paediatrics, Univ ersity of Toronto, Division of
Haematology/Oncology, The Hospital for Sick Children, Toronto, Canada  22. Malignant disease
Rob Primhak MD FRCPCH
Consultant Paediatric Respiratory Physician (ret), Sheffield Children’s Hospit al, Sheffield, UK
17. Respiratory disorders
John Puntis BM DM FRCP FRCPCH
Consultant in Paediatric Gastroenterology and Nutrition, Leeds Teaching Hospitals  NHS Trust, Leeds, UK
13. Nutrition
Irene A.G. Roberts MD FRCPath
Professor of Paediatric Haematology, Oxford University Department of Paediatrics, Jo hn Radcliffe Hospital, Oxford, UK
23. Haematological disorders
Damian Roland BMedSci MB BS MRCPCH PhD
Consultant and Honorary Senior Lecturer in Paediatric Emergency Medicine, Univer sity Hospitals of Leicester NHS Trust, Leicester,
UK
5. Care of the sick child and young person
Don Sharkey BMedSci BM BS PhD FRCPCH
Associate Professor of Neonatal Medicine, University of Nottingham, Nottingham, UK
10. Perinatal medicine
11. Neonatal medicine
Diane P.L. Smyth MD FRCP FRCPCH
Honorary Consultant Paediatric Neurologist / Neurodisability, Imperial College Healthca re NHS Trust, London, UK
3. Normal child development, hearing and vision 4. Developmental problems a nd the child with
x special needs

Marc Tebruegge DTM&H MRCPCH MSc FHEA MD PhD
NIHR Clinical Lecturer in Paediatric Infectious Diseases & Immunology, Academic Unit  of Clinical & 
Experimental Sciences, The University of 
Southampton, Southampton, UK
15. Infection and immunity
Tracy Tinklin BM FRCPCH
Consultant Paediatrician, Derbyshire Childrens Hospital, Derby, UK
12. Growth and puberty
26. Diabetes and endocrinology
Robert M. Tulloh BM BCh MA DM FRCP FRCPCH
Professor, Congenital Cardiology, University of Bristol, Bristol, UK and
Consultant Paediatric Cardiologist, Bristol Royal Hospital for Children, Bristol, UK
18. Cardiac disorders
Ian Tully MBBCh MRCPCH
Academic Clinical Fellow in Genomic Medicine, Cardiff University & University Hospital of Wa les, Cardiff, UK 9. Genetics
Julian Verbov MD FRCP FRCPCH CBiol FSB FLS
Honorary Professor of Dermatology, University of Liverpool;
Consultant Paediatric Dermatologist, Royal Liverpool Children’s Hospital, Liverpool, U K
25. Dermatological disorders
Premila Webster MBBS DA MSc 
MFPHM FFPH DLATHE DPhil
Director of Public Health Education & Training, Nuffield Department of Population Health,
University of Oxford, Oxford, UK
1. The child in society
William P Whitehouse MB BS BSc FRCP FRCPCH
Clinical Associate Professor and Honorary Consultant Paediatric Neurologist, Unive rsity of Nottingham and Nottingham Children’s
Hospital, Nottingham University Hospital’s NHS Trust, Nottingham, UK 29. Neurologic al disorders
Lisa Whyte MBChB MSc
Consultant Paediatric Gastroenterologist, Birmingham Children’s Hospital, Birmingham, UK
14. Gastroenterology
Bhanu Williams MB BS BMedSci MRCPCH DTMH BA MAcadMed
Consultant in Paediatric Infectious Diseases, London North West Healthcare NHS Trust, Har row, UK 31. Global child health
Clare Wilson BA MBBChir MRCPCH
Academic Clinical Fellow, Institute of Child Health, University College London, U K
6. Paediatric emergencies
Neil Wimalasundera MBBS MRCPCH MSc
Consultant in Paediatric Neurodisability, The Wolfson Neurodisability Service, Great Orm ond Street Hospital, London, UK
3. Normal child development, hearing and vision 4. Developmental problems a nd the child with special needs
Acknowledgements
The editors would like to acknowledge and offer grateful thanks for the  input of all previous editions’ contributors, without whom this
new edition would not have been possible as we have widely reused their contribution s.
The child in society Dr Rashmin Tamhne, Prof Mitch
Blair, Dr Peter Sidebotham
History and examination Prof Dennis Gill, Dr Graham Clayden, Prof T auny Southwood, Dr Siobhan Jaques, Dr Sanjay Patel, Dr
Kathleen Sim
Normal child development, hearing, and vision Dr Angus Nicoll

Developmental problems and the child with special needs Dr Richard W Newton

Care of the sick child and young person Prof Raanan Gillon, Dr G raham Clayden, Prof Ruth Gilbert, Dr Maude Meates, Dr Vic

Larcher

Paediatric emergencies Dr Nigel Curtis, Prof Nigel Klein, Dr Simon Nadel, Dr Rob Task er, Dr Shruti Agrawal

Accidents and poisoning Prof Jo Sibert, Dr Barbara Phillips, Dr Ian Maconoc hie, Dr Rebecca C Salter

Child protection Prof Jo Sibert, Dr Barbara Phillips

Genetics Dr Elizabeth Thompson, Dr Helen Kingston

Perinatal medicine Dr Karen Simmer, Prof Michael Weindling, Prof Andrew Whitelaw, Prof Andrew R Wilkinson

Neonatal medicine Dr Karen Simmer, Prof Michael Weindling, Prof Andrew Whitelaw, Prof Andrew R Wilkinson

Growth and puberty Dr Tony Hulse, Dr Jerry K H Wales

Nutrition Prof Ian Booth, Dr Jonathan Bishop, Dr Stephen Hodges

Gastroenterology Dr Jonathan Bishop, Dr Stephen Hodges

Infection and immunity Prof Nigel Klein, Dr Nigel Curtis, Dr Hermione Lyall, Dr Andrew Prendergast, Dr Gareth Tudor-Williams

Allergy Dr Tom Blyth, Prof Gideon Lack

Respiratory disorders Dr Jon Couriel, Dr Iolo Doull, Dr Malcolm Brodlie, Dr M ichael C McKean, Mr Gerard P S Siou

Cardiac disorders Prof Andrew Redington

Kidney and urinary tract disorders Prof George Haycock, Dr Lesley R ees

Genital disorders Mr Nicholas Madden, Mr Mark Stringer, Prof David Thom as, Mrs Aruna Abhyankar

Liver disorders Dr Ulrich Baumann, Dr Jonathan Bishop, Dr Stephen Hodges

Malignant disease Prof Michael Stevens, Dr Helen Jenkinson

Haematological disorders Dr Lynn Ball, Prof Paula Bolton-Maggs, Dr Michelle Cu mmins

Child and adolescent mental health Prof Peter Hill, Prof Elena Garralda, Dr Sharon E Taylor, Dr Cornelius Ani

Dermatological disorders Dr Gill Du Mont

Diabetes and endocrinology Dr Tony Hulse, Dr Jerry K H Wales

Metabolic disorders Dr Ed Wraith

Musculoskeletal disorders Dr John Sills, Prof Tauny Southwood

Neurological disorders Dr Richard W Newton, Dr Alison Giles

Adolescent medicine Dr Terry Segal, Prof Russell Viner

Global child health Prof Stephen J Allen, Dr Ike Lagunju, Raúl Pardíñaz-Solís

The child in society

The child’s world Well-being Important public health issues for children and young

people

1 5

Major public child health initiatives 7 Conclusion 8

Regarding the society in which we live:

•

in combination with our genes, it determines who we are

•

it is responsible for the country’s health outcomes – which is why the infant mortality in the UK is 3.8 per 1000 live births, but in

Sweden is 2.7 whilst in Bangladesh it is 47 and in Malawi 77 per 1000 live births

•

important public health issues for children and young people in the UK are re duction in mortality, health inequalities, variations in health

outcomes, obesity, emotional and behaviour problems, teenage pregnancy, smoking an d drug abuse, and improving child protection

services

•

many of the causes and determinants of childhood morbidity and mortality are preventab le. Doctors can play a role by raising society’s

awareness of how this can be achieved and improving the health systems and healthcar e services they provide.

Most medical encounters with children involve an individual child presenting to a doctor with a symp tom, such as difficulty breathing or

diarrhoea. After taking a history, examining the child and performing any necessary inves tigations, the doctor arrives at a diagnosis or

differential diagnosis and makes a management plan. This disease-oriented approach, which is the focus of most of this book, plays an

important part in ensuring the immediate and long-term well-being of the child. Of course, the doctor also needs to understand the nature

of the child’s illness within the wider context of their world, which is the primary focus of this ch apter.

In order to be a truly effective clinician, the doctor must be able to place the child’s clinical problems within the context

of the family and of the society in which they live.

Important goals for a society are that its children and young people are healthy, safe, enjoy life, make a positive contribution and achieve

economic well-being (Every Child Matters, 2003 at: http://www.dcsf.gov.u k/ everychildmatters). This chapter will focus on

environmental factors that affect children in the UK and other high-income countries. Those in low and middleincome countries are

considered in Chapter 31, Global Child Health.

The child’s world

Children’s health is profoundly influenced by their social, cultural and physical environment. Th is can be considered in terms of the

child, the family and immediate social environment, the local social fabric and the national and international environment (Fig. 1.1). Our

ability to intervene as clinicians needs to be seen within this context of complex int errelating influences on health.

The child

The child’s world will be affected by gender, genes, physical health, temperament and development. The impact of the social

environment varies markedly with age:

•

Infant or toddler: life is mainly determined by the home environment

•

Young child: in addition to home environment by school and friends

•

Young person: physical and emotional changes of adolescence, but also aware of and influenced by events nationally and internationally,

e.g. in music, sport, fashion or politics.

Immediate social environment

Family structure

Although the ‘two biological parent family’ remains the norm, there are many variations in fam ily structure. In

National and

international environment

Gross

national product

Local social fabric

Culture and

lifestyle

1Overall health spending Pollution Play

and

Immediate

facilities

environment

social environment

National legal

framework

Friends

and relatives Family structure

Population structure Health service delivery Housing

Child

Age, gender,Pets

genes, health

Parenting Schoolstyles/ and Social/

education

preschool political

leadership and development Cultural

Media

attitudes

Parental

Siblings

health Religion

Socioeconomic

Transport

status/social class

Social services Social class/ economic status

Figure 1.1 A child’s world consists of overlapping, interconnected and expand ing socioenvironmental layers, which influence children’s

health and development. (After Bronfenbrenner U. 1979. Contexts of child rearing – problems and prospects. American Psychologist

34:844–850.)

Media

Neighbourhood

Communication and transport infrastructure

War

and natural disasters

100

Married/cohabiting couple

40 Lone mother

Figure 1.2 Changing structure of the family 1971–2014. (ONS, General Lifestyle Survey 2016) .

Lone father 0

the UK, the family structure has changed markedly over the last 30 years (Fig. 1.2).

Single-parent households – One in four children now live in a single-parent hou sehold (91% living with their mother). Disadvantages of

single parenthood accompanying rise in reconstituted families (1 in 10 children liv e in a step-family) mean that children are having to

cope with a range of new and complex parental and sibling relationships. This may result in emotional, behavioural and social

difficulties.

include a higher level of unemployment, poor

Looked after children – The term ‘looked after children’

housing and financial hardship (Table 1.1). These is

generally used to mean those children who are social adversities may affect parenting resources, looked after by the state. Approximately 3% of e.g. vigilance about

safety, adequacy of nutrition, children under 16 years old in the UK live away from take-up of preventive se rvices such as their family home. Children enter care for a

range of immunization and regular screening, and ability to reasons including physical, sexual or em otional cope with an acutely sick child at home. abuse, neglect or

family breakdown. There are

2 Reconstituted families – The increase in the number currently over 92 000 child ren in care in the UK. of parents who change partners

and the They have significantly increased levels of health

Table 1.1 Comparison between parents who are single or couples (General Household Su rvey, Office for National Statistics, England

2008.)

Median weekly family income (£) In lowest income quintile (%) Living in social housin g (%) Parent with no educational qualification

(%)

Child with school behaviour problems (%)

Lone-parent family

280

Couple family

573

14 8

needs than children and young people from comparable socio-economic backgrounds w ho have not been “looked after”. Past

experiences, including a poor start in life, removal from family, placement lo cation and transitions mean that these children are often at

risk of having poor access to health services, both universal and specialist.

Asylum seekers – These are people who have come to the UK to apply for protection as ref ugees. They are often placed in temporary

housing and moved repeatedly into areas unfamiliar to them. In addition to the uncert ainty as to whether or not they will be allowed to

stay in the country, they face additional problems as a result of communicat ion difficulties, poverty, fragmentation of families and

racism. Many have lost family members and are uncertain about the safety of friends and f amily. All of these can have a serious impact

on both physical and mental health. Children have particular difficulties as the frequent mov es can disrupt continuity of care. It also

disrupts childhood friendships, education, and family support networks thereby havin g an inevitable impact on a child’s well-being.

Parental employment – With many parents in employment, many young children are with child-minders or at preschool nurseries.

Parents are receiving conflicting opinions on the long-term consequences of caring for their young children at home in contrast to

nursery care. Also, increasing attention is being paid to the quality of day-care facilities in terms of superv ision of the children and

improving the opportunities they provide for social interaction and learning.

Parenting styles

Children rely on their parents to provide love and nurture, stimulation and security, as well as catering for their physical needs of food,

clothing and shelter. Parenting that is warm and receptive to the child, while imposing reas onable and consistent boundaries, will

promote the development of an autonomous and selfreliant adult. This constitutes ‘good enough’ parenting as described by the

paediatrician and psychotherapist, Donald Winnicott, and can reassure parents that perfection is not necessary. However, some parents

are excessively authoritarian or extremely permissive. Children’s emotional de velopment may also be damaged by parents who neglect

or abuse their children. The child’s temperament is also important, especially when there is a mismatch with parenting style, for example,

a child with a very energetic temperament may be misperceived in a quiet family as having attention deficit hyperactivity disorder

(ADHD).

Siblings and extended family

Siblings clearly have a marked influence on the family dynamics. How siblings affect each other appears to be determined by the

emotional quality of their relationship with each other and also with other members of the family, including their parents. The arrival of a

new baby may engender a feeling of insecurity in older brothers and sisters and result in attention-seeking behaviour. In contrast,

children can benefit greatly from having siblings by providing close child compan ions, and can learn from and support each other. The

role of grandparents and other family members varies widely and is influenc ed by the family’s culture. In some, they are the main

caregivers; in others, they provide valued practical and emotional support. Howe ver, in many families they now play only a peripheral

role, exacerbated by geographical separation.

Cultural attitudes to child-rearing

The way in which children are brought up evolves within a community over generations, and is influenced by culture and religion,

affecting both day-to-day issues to fundamental lifestyle choices. For example, in some societies children are given cons iderable self-

autonomy, from deciding what food they want to eat to their education and even to participating in major decisions about their medical

care. By contrast, in other societies, children are largely excluded from decision-making. Another example of marked differences

between societies is the use of physical 3 punishment to discipline children; in the UK it is not illegal for a parent to smack their child to

administer “reasonable punishment” as long as it does not leave a mark or harm the child an d is not administered with an instrument,

whereas corporal punishment for children is illegal in 46 countries. The expected roles of males and females both as children and as

adults differ widely between countries.

Peers

1Peers exert a major influence on children. Peer relationships and activities provide a ‘ sense of group belonging’ and have

potentially long-term benefits for the child. Conversely, they may exer t negative pressure through inappropriate role modelling.

Relationships can also go wrong, e.g. persistent bullying, which may result in or contribut e to psychosomatic symptoms, misery and

even, in extreme cases, suicide.

Socioeconomic status

Poverty is the single greatest threat to the well-being of children, as it can affect every area of a child’s development – social, educational

and personal. Low socioeconomic status is often associated with multiple disadvantages, e.g. food of inadequate quanti ty or poor

nutritional value, substandard housing or homelessness, lack of ‘good enough’ parenting, poor parental education and healt h, and poor

access to healthcare and educational facilities. Families are usually considered to live in poverty when they “lack resources to obtain the

type of diet, participate in the activities, and have the living conditions and amenities which are customary, or at least widely encouraged

and approved, in the societies in which they belong’ (P Townsend, Poverty in the United Kingdom, Allen Lane, 1979). The most widely

used poverty measure in the UK is ‘household income below 60 percent of median income’ (Fig. 1.3). Data for 2013–2014 esti mates that

there are 3.5 million children living in poverty in the UK. The groups that are mo re at risk from poverty include lone parents, large

families, families affected by disability, and black and minority ethnic groups.

USA Spain

United Kingdom

Belgium

France Denmark

Netherlands

Norway

Sweden

0 5 10 15 % 20 25 30

Figure 1.3 Percentage of children living in poverty. In this international comp arison, the UNICEF definition of relative poverty is

households with income below

4 50% of national median (Data from UNICEF report card, Innocenti Research C entre 2012).

In the UK, prevalence of the following are increased by poverty:

• low birthweight infants

• injuries

• hospital admissions

• asthma

• behavioural problems

• special educational needs

• child abuse.

Even a few years of poverty can have negative consequences for a child’s development and i s especially harmful from the ages of birth

to five. Research indicates that being poor at both 9 months and 3 years is a ssociated with increased likelihood of poor behavioural,

learning and health outcomes at age 5 years (Magnuson, 2013). By the age of four, a dev elopment gap of more than a year and a half can

be seen between the most disadvantaged and the most advantaged children (Sutton Trust, 2012). Babies whose development falls behind

the norm during the first year of life are much mo re likely to fall even further behind in subsequent years rather than to catch u p with

those who have had a better start.

Local social fabric

Neighbourhood

Cohesive communities and amicable neighbourhoods are positive influences on childre n. Racial tension and other social adversities,

such as gang violence and drugs, will adversely affect the emotional and social development of children , as well as their physical health.

Parental concern about safety may create tensions in balancing their children’s freedom with overprotection and restriction of their

lifestyles. The physical environment itself, through pollution, safe areas for play and quality of housing and public facilities, will affect

children’s health.

Health service delivery

The variation in the quality of healthcare is an important component in preventing morb idity and mortality in children. Health services

for children are increasingly provided within primary care. Some aspects of specialist paediatric care are also increasingly provided

within the child’s home, local community or local hospital through shared care arrangem ents and specialist community nursing and

medical teams working within clinical networks. However, access to and the range of th ese services varies widely.

Schools

Schools provide a powerful influence on children’s emotional and intellectual deve lopment and their subsequent lives. Differences in the

quality of schools in different areas can accentuate inequalities already present in society. Schools provide enormous opportunities for

influencing healthy behaviour through personal and social education and through the influence of peers and positive role models. They

also provide opportunities for monitoring and promoting the health and well -being of vulnerable children.

Travel

The increasing ease of travel can broaden children’s horizons and opportuniti es. Especially in rural areas, the ease and availability of

transport allow greater access to medical care and other services. However, the increasing use of motor vehicles contributes to the large

number of injuries sustained by children from road traffic accidents, mainly as pedestrians. It also decreases physical a ctivity, as shown

by the high proportion of children taken to school by car. Whereas 80% of children in the UK we nt to school by foot or bicycle in 1971,

only 42% of children aged 5–16 years walked to school in 2013. This contributes to the rise in childhood obesity.

War and natural disasters

Children are especially vulnerable when there is war, civil unrest or natural disasters. Not only are they at greater risk from infectious

diseases and malnutrition but also they may lose their caregivers and other m embers of their families and are likely to have been exposed

to highly traumatic events. Their lives will have been uprooted, socially and culturally, espec ially if they are forced to flee from their

homes and become refugees. Recently, the huge increase in the number o f refugee children following war and ethnic violence in parts of

the Middle East, South-East Asia and Africa, with families displaced internally or in other countries, often in refugee camps, is resulting

in deterioration in even their basic health outcomes.

National and international

environment

Economic wealth

In general, there is an inverse relationship between a country’s gross national product and income distribution and the quality of its

children’s health. The lower the gross national income:

•

the greater the proportion of the population who are children

• the higher the childhood mortality.

However, as described above, even in countries with a high gross national product, many c hildren live in poverty.

In all countries, including those with high gross national product, difficult choi ces need to be made about the allocation of resources.

Difficult decisions also have to be faced in deciding the affordability of very expensive proc edures, such as heart or liver transplantation,

neonatal intensive care for extremely premature infants and certain drugs, such as genetically engineered enzyme replacement therapy

for Gaucher disease or cytokine modulators (‘biologics’) and other immunotherapies. The p ublic are becoming more engaged in these

debates.

Media and technology

The media has a powerful influence on children. It can be positive and educational. However, the impact of television and computers and

mobile technology can be negative owing to reduced opportunities for social interaction and active learnin g, lack of physical exercise and

exposure to violence, sex, and cultural stereotypes. The extent to which the aggressive tendencies of children may be exacerbated or

encouraged by media exposure to violence is unclear.

The internet is enabling parents and children to become better informed about and gain support for their children’s medical problems.

This is especially beneficial for the many rare conditions encountered in paediatrics. A disadvantage is that it may result i n the

dissemination of information which is incorrect or biased, and may result in re quests for inappropriate or untested investigations or

treatment.

Well-being

The concept of well-being encompasses a number of different elements and includes emotional, psychologic al and social well-being. The

well-being of children is key to the development of healthy behaviours and educational a ttainment and impacts on their childhood and

life chances and on their families and communities. The Children’s Society survey in 2014 found that 9% of children in the UK (aged 8–

15 years) report low life satisfaction. Having low satisfaction increases with age, rising from just 4% of 8 year olds to 14% of 15 year

olds. There is a gender gap, with girls tending to report lower well-being than boys. Having a low level of well-being appears to be

related to sociodemographic factors such as household income and family structure. Children who have re cently been bullied also report

a lower level of well-being. One of the most important factors in promoting children’s well-being appears to be the quality of family

relationships and parental behaviours and in particular the availability of emotional support. Interventions which can resu lt in

improvement in childhood well-being include parenting support programmes, emotional health and well-being programmes in schools,

access to green spaces and opportunities to be active. Children in the UK do muc h worse in terms of well-being compared with other

European countries and across the world.

Important public health issues for children and young people

Important public health issues for the 11 million children and young people in th e UK include reduction in mortality, health inequalities,

child protection, obesity, emotional and behaviour problems, disability, smoking and drug abuse.

Child mortality (Fig. 1.4)

In 1900–1902, 146 out of every 1000 children born in England and Wales would die before their first birthday, by 1990– 1992 the rate

had fallen to 7 deaths per 1000 live births and to 3.8 per 1000 live births in 2013. This 5 dramatic reduction in childhood mortality over

the last

6000

Mortality (per 1000 live births)

160<1 year

5000

Mortality per 100,000 140

population of same age

1–4 years

120

4000

5–9 years

10–14 years 100

3000 80

2000

1000

0 0

1900–02 1910–12 1920–221930–32 1950–52 1960–62 1970–72 1980–82 1990–92 2000–02 2010–1 2

Figure 1.4 Marked reduction in childhood deaths between 1900 and 2012 in the UK. Th is is shown as deaths by age group per 100 000

population of the same age and infant mortality per 1000 live births.

century was primarily due to improvements in living conditions such as better sanitation and housing and access to food and clean water.

There has also been a marked reduction in childhood deaths from infectious disease, augmented by the increased range and uptake of

immunizations.

Currently over half of deaths in childhood in the UK occur during the first year of life. Prematurity and/or low birthweight contribute

considerably to infant mortality. The wide variation in the proportion of babies born preterm between countries, almost 8% in the UK,

12% in the USA, but only 5.5% in Finland and 5.9% in Sweden is of uncertain origin, but is likely to be predominantly environmental.

This wide variation in prematurity rate has a marked effect on infant mortality rate and outcomes. Infant mortality rates for very low

birthweight babies (<1500 g) and low birthweight babies (<2500 g) are 164 and 32.4 deaths per 1000 live births respectively. This is

much higher than the 1.3 deaths per 1000 live births among babies of normal birthweight (>2500 g).

Environmental factors that influence infant mortality include:

•

maternal age – infant mortality rates are lowest for babies of mothers aged 25–29 years ( 3.4 per 1000 live births) and highest for mothers

aged under 20 years (6.1 per 1000 live births)

•

maternal country of birth – for babies of mothers born outside the UK, the infa nt mortality rate is 4.2 compared with 3.8 per 1000 live

births for mothers born in the UK

•

social class – in 2013, infant mortality rates were highest for those in routine and manu al occupations, the long term unemployed and

those who have never worked and lowest for those in higher managerial and professional occupations .

Amongst 1–9 year olds the main causes of death are injuries and poisoning, cancer, and congenital anoma6 lies. Sociodemographic

factors are important in mortality from injuries and poisoning and from congenital anomalies, though they are usually poorly understood.

A good example of the role of sociodemographic factors in congenital anomalies is neu ral tube defects. Their prevalence varies markedly

between different countries; maternal nutrition, particularly with folic acid, as well as genetic fact ors play a role. In addition, the birth

prevalence of neural tube defects is affected by antenatal screening practices and attitudes towar ds termination of pregnancy if an

affected fetus is identified. Between the ages of 10 to 14 the most common causes of death in the UK are injuries and poisoning and

cancer. Their mortality rate has declined over the last 50 years (see Fig. 30.2).

Comparison with other

European countries

Although childhood mortality rates have declined over the past three decades, the UK continues to have a much higher child mortality

rate compared with some other European countries. In 2013, the under 5 mortality rate for the UK was 4.9 deaths per 1000 live births,

compared with 3.7 deaths per 1000 live births in France and 2.7 deaths per 10 00 live births in Sweden. The reasons for this are complex,

but it is in part due to the UK having higher rates of low birthweight and preterm rates wh en compared with some other European

countries, both of which have a strong influence on infant mortality rates. In addition, the U K has one of the highest rates of child poverty

compared with other comparable wealthy countries. Childhood mortality rates are higher in countries with a high proportion of deprived

households. The Nordic countries have low levels of deprivation and also show some o f the lowest child mortality rates. There is also

evidence that the UK performs less well in the recognition and management of serious illness in primary and secondary care and in the

community. In addition, outcome measures for chronic illnesses such as asthma, epilepsy and diabetes are poo rer. More effective

prevention and better medical care of these children could reduce mortality and morbidity.

Inequalities in child heath

What causes inequalities?

Inequalities in health refer to the marked differences in health outcomes within a given population. As there are so many factors that

influence the health of a child the explanations about the causes of inequalities in health are complex. The World Health Organiza tion

uses the terms “equity” and “inequity to refer to “differences in health whi ch are not only unnecessary and avoidable but, in addition, are

considered unfair and unjust”. A quarter of all deaths under the age of 1 year would potentially be av oided if all births had the same level

of risk as those of women with the lowest level of deprivation.

Child protection and variation

in outcomes

Child protection is the process of protecting individual children identified as ei ther suffering, or likely to suffer, significant harm as a

result of abuse or neglect. It involves measures and structures designed to prevent and respond to ab use and neglect. A substantial

minority of children in high-income countries are maltreated by their caregivers . In 2013–2014 over 48 000 children in England were

identified as needing protection from abuse, about 0.4% of the total child population (Chil d protection is considered in detail in Chapter

8, Child Protection.).

Obesity

The proportion of children in the UK who are overweight (BMI > 91st centile) is about 25% between 2–5 yrs, 30% between 6–10 years

and 37% between 11–15 years. Doctors can help promote healthy eating through sup porting breastfeeding in infancy, advising parents

and young people on healthy lifestyles, monitoring growth parameters and th e consequences of obesity, and through advocacy and

support for local and national healthy lifestyle programmes. Further details are descr ibed in Chapter 13, Nutrition.

Emotional and behavioural difficulties

11% of boys and 8% of girls in the UK suffer from a defined emotional or behavioural problem. In addition, these problems are often

unrecognized but have significant ongoing impact on children’s overall well-being. Doctors can contribute to ameliorating th em by being

alert to and responding to the signs of mental health problems in childhood, and by promot ing an equitable distribution of resources to

child and adolescent mental health services.

to ensure that the needs of individual children are appropriately catered for. This may inclu de outlining a child’s health needs for a

statement of special educational need, formulating an individual healthcare plan, and advocating for the resources to implement this.

Doctors can also provide education and social services with data on the numbers and levels of need within their own population.

Smoking, alcohol, and drugs

A 2013 survey found that 8% of 15-year-olds smoke regularly; 6% had taken d rugs in the past month, and 9% had drunk alcohol in the

past week. Doctors have been instrumental in campaigning for legislation to protect young people from targeted advertising and to raise

awareness of the dangers of smoking, alcohol, and drugs. There is evide nce that prevalence of all three behaviours are decreasing.

Major public child health

initiatives

A range of public health initiatives were introduced over the last decade to improve the health and wellbe ing of children. Some are

described below.

National Service Framework

This was a 10 year programme between 2004 and 2014 aimed at everyone who had contact with pregnant women, children or young

people and was developed to ensure fair, high quality and integrated services, designed and delivered around the needs of children and

their families, from pregnancy through to adulthood.

The Children’s National Service Framework also led to the introduction of a Child Health Promotion Programme which w as designed to

promote the health and well-being of children from prebirth to adulthood.

Every Child Matters

In order to implement the Children’s National Service Framework, Every Child Matte rs described the commitment to support all

children to “Be Healthy, Stay Safe, Enjoy and Achieve, Make a positive contribution and Achieve economic w ell-being”. Every Child

Matters was underpinned by The Children Act 2004 which provided the leg al basis for how agencies should deal with issues relating to

children. The implementation of Every Child Matters meant a multi-agency appro ach ensuring that organizations shared information in

order to help promote the health and well-being of children and young people. It included the role of a C hildren’s Commissioner which

gave children a voice in parliament.

Disability

Up to 5.4% have some form of disability and 7% have a long-standing illness that limits their activity. Doctors need to work closely with

children and young people, families, local communities and other services

The Healthy Child Programme and

Family Nurse Partnership

The Healthy Child Programme was developed as 7 part of an integrated approach to support children and their families. It is an early

intervention and prevention public health programme which offers every family screening che cks, immunizations, developmental

reviews and guidance to support parenting and healthy choices. It is described in Chapter 3 , Normal child development, hearing and

vision.

Sure Start

Sure Start is a child health initiative which aims to “give children the best possible start in life”. The emph asis is on improving childcare,

early education, health and family support. The first Sure Start children’s centres were focused on areas with higher levels of deprivation

but with the intention that eventually there would be a children’s centre in every com munity. Initiatives include early learning and

childcare, support and advice on parenting, child and family health services such as antenatal an d postnatal support, and breastfeeding

support.

Conclusion

Children are vulnerable members of society. They rely on their parents and society to ca re for them and provide an environment where

they can grow both physically and emotionally to reach their full potential. Their h ealth is dependent on a nurturing environment and

good health services.

Doctors can help children by the wider use of their knowledge about ch ild health. This may be through advocacy about children’s issues

and by providing information to inform public debate.

Acknowledgements

We would like to acknowledge contributors to this

chapter in previous editions, whose work we have drawn on: Dr Rashmin Tamhn e (1st and 2nd Edition, Dr Tom Lissauer (2nd and 3rd

Edition), Prof Mitch Blair (3rd Edition) and Dr Peter Sidebotham (4th Edition).

Further reading

Blair M, Stewart-Brown S, Waterston T, et al: Child Public Health, ed 2, Oxford, 2010, Oxford University Press.

Health and Social Care Information Centre: Smoking, dri nking and drug use among young people in England in 2013. 2014

Magnuson K: Reducing the effects of poverty through early childhood interventions. I nstitute for Research on Poverty, 2013.

Royal College of Paediatrics and Child Health, National Children’s Bureau, British Association for

Child and Adolescent Public Health: Why Children Die: deaths in infant s, children and young people in the UK. 2014.

The Sutton Trust: Poorer Toddlers need Well Educated Nursery teacher s, London, 2012, Sutton Trust.

Wang H, Liddell CA, Coates MM, Mooney MD, Levitz CE, et al: Global, regional and national levels of

neonatal, infant and under 5 mortality during 1990–2013: a systematic analysis for the global b urden of disease study 2013. Lancet

384:957–979, 2014.

Websites (Accessed November 2016) Well-being references

The Good Childhood Report 2015. The Children’s Society and University of York . 2015

Available at http://www.childrenssociety.org.uk/sites/ default/files/TheGoodChildhoodRe port2015.pdf
Child health initiatives
Healthy Child Programme Public Health England 
2015: Available at: https://www.gov.uk/government/ publications/healthy-child-programme-pregnancy
-and-the-first-5-years-of-life
Better health outcomes for children and young  people:  Available at: https://www.gov.uk/.../better
_health_outcomes_children_young_people_pledge .pdf
Start4Life: Available at: http://www.nhs.uk/start4life. From evidence into actio n: opportunities to protect  and 
improve the nation’s health: Public Health England. October 2014. Available at: ht tps://www.gov.
uk/government/uploads/system/uploads/attachment_ data/file/366852/PHE_Prior ities.pdf
8
2 
History and examination
  Taking a history    An approach to examining children    Obta ining the child’s cooperation   
Examination 
10
12
13
13
  Communicating with children  24
  Investigations during consultation  24
  Summary and management plan  24
Features of history and examination in paediatric practice are:
•
in contrast to adult medicine, the questions asked in the history and the way the examination is  conducted need to be adjusted according
to the child’s age
•
examination is opportunistic, e.g. listening to the chest and heart in an infant or young child w hen quiet, or may require distraction or
play
•
in order to achieve a successful and complete examination in young children, ingenuit y is often required
•
parents are acutely concerned and anxious about their children – they quickly recogn ize and appreciate doctors who demonstrate interest,
empathy, and skill.
Despite advances in technology and the availability of ever more soph isticated investigations, history-taking and clinical examination
continue to be the cornerstone of clinical practice. These skills are ev en more crucial in paediatrics, where most diagnoses are made on
the basis of a good history, augmented by astute observation of the child and targeted examination.
When considering clinical history and examination of children, it is helpful to think about some of the  common clinical presentations in
which children are seen by doctors, and also the age of the child involved. All have  an impact on the history taking and examination
process.
Common clinical scenarios are:
•
an acute illness, e.g. respiratory tract infection, a febrile child, appendicitis
•
a chronic problem, e.g. faltering growth, 
constipation
•
a newborn infant with a congenital malformation or abnormality, e.g. develo pmental dysplasia of the hip, Down syndrome
•
suspected delay in development, e.g. delayed walking or speech

•

behavioural problems, e.g. temper tantrums, hyperactivity, eating disorders.

The aims and objectives of all clinical encounters are to:

•

establish the relevant facts of the history; this is usually the most fruitful source o f diagnostic information – a parent’s description of an

event provides valuable information

• elicit all relevant clinical findings

•

collate the findings from the history and examination

•

formulate a working diagnosis or differential diagnosis

• assemble a problem list and management plan. Key features in a paediatric history and examination ar e:

•

the child’s age – this is crucial in the history and examination (Fig. 2.1) as it determines:

–

the nature and presentation of illnesses, developmental or behavioural problems

–

the way in which the history-taking and examination are conducted

–

the way in which any subsequent management is organized

•

the nature of the problem – assessment of the acutely ill child will need to be m ore focused and concise (“how unwell is this child at this

particular moment?”), whereas a developmental assessment will require detailed eva luation

•

observing the child – their appearance,

behaviour, play, and gait. The continued observation of the child during the whole interview may provide important clues to diagnosis

and management.

Paediatrics is a specialty governed by age

2Infant Toddler Preschool School-age Teenager Neonate Appro x Young child Older child Adolescent

(<4 weeks) 1-2 years

(2-5 years)

Infant

(<1 year)

Figure 2.1 The illnesses and problems children encounter are highly age-depende nt. The child’s age will determine the questions you

ask on history-taking; how you conduct the examination; the diagnosis or differential diagnosis and your management plan.

Paediatrics stretches from newborn infants to adolescents. Whenever you conside r a paediatric problem, whether medical,

developmental or behavioural, first consider “What is the child’s age?”

To maximize the value of each consultation it is important to organize the env ironment so that it is welcoming and unthreatening. Have

suitable toys or activities available. Avoid desks or beds between you and the family.

Parents or carers know their children best – never ignore or dismiss what th ey say.

Taking a history

Introduction

•

Make sure you have read any referral letter and/or hospital notes before the start o f the consultation.

•

When you greet the child, parents, and siblings, check that you know the child’s first name and gender. Ask how the child prefers to be

addressed.

• Introduce yourself.

•

Determine the relationship of the adults to the child.

•

Establish eye contact and rapport with the family, but keep a comfortable distance. Inf ants and some toddlers are most secure in parents’

arms or laps. Young children may need some time to feel at ease.

•

Observe how the child plays and interacts with any siblings present.

•

Do not forget to address questions to the child, when appropriate.

•

There will be occasions when the parents will not want the child present or when the chi ld should

10 be seen alone. This is usually to avoid

embarrassing older children or teenagers or young adults to impart sensitive i nformation. This must be handled tactfully, often by

negotiating to talk separately to each in turn. Give an adolescent the opportunity to talk to you alone. This can be introduced as “It is my

usual practice to …” See the adolescent after the parents so he/she knows that con fidential information imparted to the doctor has not

been disclosed.

Presenting symptoms

Full details are required of the presenting symptoms. Star t with an open question. Let the parents and child recount the presenting

complaints in their own words and at their own pace. Note the parent’s word s about the presenting complaint: onset, duration, previous

episodes, what relieves/aggravates them, time course of the problem, if getting worse and any ass ociated symptoms. Has the child’s or

the family’s lifestyle been affected? What has the family done about it? If describing a rash or an event such as a seizure, parents may

have a photograph or video on their mobile phone. These can be very helpful, but you may need to ask for them!

Make sure you know:

• what prompted the referral

•

what the parents think or fear is the matter. Have the parents been searching th e internet or discussed it with others?

The scope and detail of further history taking are determined by the nature and severity of the presenting complaint and the child’s ag e.

While the comprehensive assessment listed here is sometimes required, usually a selective approach is more appropriate (Fig. 2.2). This

is not an excuse for a short, slipshod history, but instead allows one to focus on the areas w here a thorough, detailed history is required.

For example, in a young child with delayed speech, a detailed birth

And when did Jimmy

first walk? I'm James.What has this got to do with my headaches?

Gosh, it's a long time ago. I cannot remember

Figure 2.2 The history must be adapted to the child’s age. The age when a child first walks is highly relevant when taking the history of

a toddler or child with a developmental problem but irrelevant for a teenager in secondar y school with headaches.

and neonatal history and details of developmental milestones should be established, but would not be appropriate for an adolescent with

headaches (Fig. 2.2).

General enquiry and systems review

Check:

•

general health – how active and lively? When were they last their normal self?

•

normal growth – is the child following their weight and height centiles?

• feeding/drinking/appetite

• any recent change in behaviour or personality?

Selected, as appropriate:

• general rashes, fever (if measured)

• respiratory – cough, wheeze, breathing problems

•

ear, nose, throat – earache, throat infections, snoring, noisy breathing (stridor)

•

cardiovascular – cyanosis, exercise tolerance, faints

•

gastrointestinal – vomiting, diarrhoea/constipation, abdominal pain

•

genitourinary – dysuria, frequency, wetting, toilet-trained

•

neurological – development, vision, hearing, seizures, headaches, abnormal o r impaired movements, change in behaviour

•

musculoskeletal – gait, limb pain or swelling, other functional abnormalities

• pubertal development.

Make sure that you and the parent or child mean the same thing when describing a prob lem. For example, parents may use the word

‘wheeze’ to describe any respiratory sound.

Smartphones are particularly helpful in paediatric practice as parents will often have photographs showing what they are

concerned about or taken videos, e.g. of abnormal movements of the limbs or eyes.

Past medical history

Often easiest to follow in chronological order:

•

maternal obstetric problems including antenatal scans and screening bloods, de livery

• birthweight and gestation

•

perinatal problems, whether admitted to special care baby unit, jaundice, etc.

•

immunizations (ideally from the personal child health record)

•

past illnesses, hospital admissions, and operations, accidents and injuries.

Medication

Check:

•

past and present medications, both prescribed and “over the counter”

• known allergies.

Family history

Families share houses, genes, and diseases!

•

Have any members of the family or friends had similar problems or any serious diso rder?

Any neonatal/childhood deaths?

•

Draw a family tree (see Ch. 9, Genetics). If there is a positive family history, extend family pedigree over several generations.

• Is there consanguinity?

Social history

Check:

•

Relevant information about the family and their community – parental occupa tion, economic

status, housing, relationships, parental smoking, marital stresses. “Who lives with you at home?” Adding this to the family tree is a

convenient way to document it. (See Case history 2.1). Is the child “looked after” (i.e. under the care of social service s)?

•

Is the child happy at home? What are the child’s preferred play or leisure activities? In an older c hild it may be appropriate to take a

psychosocial

history (see Table 30.2, use of HEADS acronym).

• Is the child happy at nursery/school?

•

What has been the impact of this illness on the child and family?

• Are the family eligible to claim any benefits?

•

Is there a social worker involved? This can often be tricky to ask. One approach is to simply ask “Do you have a health visitor? A social

worker?” This should identify if families are known to social

services, for example, if the child is subject to a Child Protection Plan.

This ‘social snapshot’ is crucial, since many childhood illnesses or conditions are caused by or affected by adult problems, for example:

• alcohol and drug abuse

• long-term unemployment/poverty

• poor, damp, cramped housing 11

• parental mental health disorders

• unstable partnership.

Case history 2.1

Drawing social arrangements on a family tree

Jade, a 3 year old girl, presents with faltering growth.

She has two “full” siblings, but her mother has another two older children by a prev ious partner who gives her no financial support. Her

current partner Simon, is out of work. Chris, his 17 year old son from a previous relationship is also living in the house. This can most

easily be understood by drawing the family’s social arrangements on the family tree ( Fig. 2.3). These details could be missed if a full

family and social history is not taken.

Mary John COPD

Sam Jane little 32 contact at home Steven 34

Cerebral PalsySimon

Sara lives with parents

41 mentalout of illnesswork

Jack John Jade

8 6 3 asthma well

St. Ardan’s St. Ardan’s School School

• Sits unsupported

• Walks around furniture

• Walks unaided

• Follows a face

• Reaches for toys

• Grasps with palmar grip

• Picks up small objects

• Startles to

loud noises

• Coos and babbles

• Turns head to sounds

• Says 'mama', 'dada' etc

• Understands commands

• Says words

• Talks in sentences

Gross motor

Fine

motor and vision

Speech, language and

hearing

Figure 2.4 Some key

developmental milestones in infants and young children. These are considered in detail in Chapter 3. Normal child

development, hearing and vision.

Social,

emotional

and

behavioural

• Smiles

• Feeds himself solid food

• Drinks from a cup

• Helps with tasks like dressing

• Toilet-trained

Development

Check:

9/12 Joanna well

Chris 17

smokes

Figure 2.3 Drawing the family’s social arrangements on the family tr ee can be helpful in understanding the child’s social environment.

The green box shows the members of the family living together in the family home.

• sleeping problems

• concerns and progress at nursery/school. Look through the personal child h ealth record.

•

parental concerns about development, vision, hearing

•

key developmental milestones. It is helpful to consider the developmental history in domains (Fig. 2.4)

•

previous child health surveillance developmental checks

•

bladder and bowel control in young

12 children

• child’s temperament, behaviour

An approach to examining

children

Adapting to the child’s age

Adapt the examination to suit the child’s age. While it may be difficult to examine some toddlers and young

Undressing children

Be sensitive to children’s modesty. The area to be examined must be inspected fully but this is best done in stages, redressing the child

when each stage has been completed. It is easiest, kindest and helpful to ask the child or par ent to do the undressing.

Warm, clean hands

Hands must be washed before (and after) examining a child. Warm smile, warm hands, and a warm stethoscope all help.

Figure 2.5 Distracting a toddler with a toy allows auscultation of the heart.

children fully, it is usually possible with resourcefulness and imagination on the doctor’s part.

•

Babies in the first few months are best examined on an examination couch with a parent next to them.

•

A toddler is best initially examined on his mother’s lap or occasionally over a pa rent’s shoulder.

•

Parents are reassuring for the child and helpful in facilitating the examination if guided as to w hat to do (Fig. 2.5).

•

Preschool children may initially be examined while they are playing.

•

Older children and teenagers are often concerned about privacy. Young people (males and f emales) should normally be examined in the

presence of a parent or a nurse or suitable chaperone. Be aware of cultural sensitivities in different ethnic groups.

Obtaining the child’s

cooperation

•

Make eye contact and smile. This will build trust: even very young children can judge your intentio ns from your facial expression and

attitude. If the child still looks scared don’t just press on but wait, allowing the pare nt to reassure them.

•

Get on the child’s level and try and engage in play or conversation. Try to make sure that your eye line is at the same height or lower

than theirs if at all possible. It is intimidating to have an adult tower over you!

•

Explain what you are about to do and what you want the child to do, in language he or she can un derstand. As the examination is

essential, not optional, it is best not to ask for permission, as it may well be refused!

– Be confident but gentle.

–

Short mock examinations, e.g. auscultating a teddy or a parent’s hand, may allay a yo ung child’s fears.

•

When first examining a young child, start at a non-threatening area, such as a h and or knee. In general, the more distant the site

examined is from the face, the more likely a child is to cooperate.

•

Leave unpleasant procedures such as ear and throat examinations until last.

Developmental skills

A good overview of developmental skills can be obtained by watching the ch ild play. A few simple toys, such as some bricks, a car,

doll, ball, pencil and paper, pegboard, miniature toys, and a picture book, are all that is required, as they can be adapted for any age. If

developmental assessment (see Ch. 3) is the focus of the examinatio n, it is advisable to assess this before the physical examination, as

co-operation may then be lost.

Examination

Initial observations – watch before

you examine

Careful observation is usually the key to success in examining children. Look before touching the child. Observation will provide

information on:

• severity of illness

• growth and nutrition

• behaviour and social responsiveness

• level of hygiene and care.

Severity of illness

Is the child sick or well? If sick, how sick? For the acutely ill infant or child, perform the ‘60-sec ond rapid assessment’ (Fig. 6.2):

•

airway and breathing – respiration rate and effort, presence of stridor or wheeze, cy anosis

•

circulation – heart rate, pulse volume, peripheral temperature, capillary refill time

• disability – level of consciousness.

The care of the seriously ill child is described in Chapter 6. Paediatric eme rgencies

Measurements

Abnormal growth may be the first manifestation of illness in children, and faltering growth is a “red flag” sign. Always measure and plot

growth on centile charts for:

•

weight, noting previous measurements from

personal child health record

•

length (in infants, if indicated) or height in older 13 children

•

head circumference in infants and in older children if there is a neurological/developmental pro blem. See Chapter 12. Growth and

puberty for further details.

Also, as appropriate:

• temperature

• blood pressure.

Approach to examination

Examination in younger children needs to be opportunistic; if a baby is quiet you may choose to auscultate the chest before undressing

the infant, which may make the infant cry. There is no strict order and there is no ‘right place to stand or sit’ when examining an

individual child, but by the end of the examination a thorough examination needs to h ave been performed. Some components of the

examination, like abdominal examination are easier to do from the child’s righ t hand side if you are using your right hand to palpate for

organomegaly.

General appearance

The face, head, neck, and hands are examined. The general morphological appearance may suggest a chromosomal or dysmorphic

syndrome. Is the head large or small? In infants, palpate the fon tanelle and sutures. Look for any congenital abnormalities. Is the child

dehydrated, jaundiced, or anaemic?

Respiratory system

Cyanosis

Is the child pink or blue (or are they on an oxyg en saturation monitor)? Central cyanosis is best observed on the tongue.

Clubbing of the fingers and/or toes

Clubbing ( Fig. 2.6a) is usually associated with chronic suppurative lung disease, e.g. cystic fibrosis, or cyanotic congen ital heart disease.

It is occasionally seen in inflammatory bowel disease or cirrhosis. It is obvious when severe but can be difficult to detect when mild; it

starts with fluctuation (bogginess) of the nail bed.

Tachypnoea

Count the rate, or determine from a monitor. Rate of respiration is age-dependent (T able 2.1).

Dyspnoea

Laboured or increased work of breathing, from increased airway resistance. Increased work of breathing is judged by:

• nasal flaring

•

expiratory grunting – to increase positive endexpiratory pressure

• use of accessory muscles, especially sternomastoids

•

retraction (recession) of the chest wall, from use of 14 suprasternal, intercostal, and subcostal muscles

• difficulty speaking (or feeding).

Chest shape

•

Hyperexpansion or barrel shape (Fig. 2.6b), e.g. in asthma.

•

Pectus excavatum (hollow chest) or pectus carinatum (pigeon chest).

•

Harrison’s sulcus (indrawing of the chest wall from long term diaphragmatic tug), e.g . from poorly controlled asthma.

• Asymmetry of chest wall movements.

Palpation

•

Chest expansion: if it looks abnormal you can check with a tape measure, this i s 3–5 cm in school-aged children. Check for symmetry.

•

Trachea: checking that it is central is seldom helpful and is disliked by children. To be done selectiv ely, e.g. if concerned about

mediastinal shift in pneumothorax.

• Location of apex beat to detect mediastinal shift.

Percussion

•

Needs to be done gently, comparing one side with the other, using middle fingers.

• In infants, only informative when clear cut signs.

• Localized dullness: collapse, consolidation, fluid.

Auscultation (ears and stethoscope)

•

Note quality of breathing and symmetry of breath sounds and any added sou nds.

• Cough – note its character.

• Hoarse voice – abnormality of the vocal cords.

•

Stridor – harsh, low-pitched, mainly inspiratory sound from upper airways obstruction.

•

Harsh breath sounds from the upper airways are readily transmitted to the upper ch est in infants.

•

Breath sounds – normal are vesicular; bronchial breathing is higher-pitched and the length of inspira tion and expiration equal. Prolonged

expiratory phase usually denotes gas trapping as in asthma.

•

Wheeze – high-pitched, expiratory sound from distal airway obstruction (Table 2.2).

•

Crackles – discontinuous ‘moist’ sounds from the opening of bronchioles (Table 2. 2).

•

Abnormal respiratory sounds may be inaudible in a child who is taking shallow, rapid breat hs but may be detectable when the child takes

big breaths.

Cardiovascular system

Cyanosis

Observe the tongue for central cyanosis.

Clubbing of fingers or toes

Check if present.

Pulse

Check:

• rate (Table 2.3)

•

rhythm – sinus arrhythmia (variation of pulse rate with respiration) is normal

Respiratory system

Figure 2.6a Clubbing of the fingers. There is increased curvature, loss of nail angle and fluctuation. This child had cystic fibrosis.

Table 2.1 Respiratory rate in children (breaths/min)

Age Normal Tachypnoea Neonate 30–50 >60

Infants 25–40 >50

Young children 25–35 >40

Older children 20–25 >30

Figure 2.6b Hyperexpanded chest from chronic

obstructive airways disease. This boy had severe asthma.

Table 2.2 Chest signs of some common chest disorders of children

Bronchiolitis

Chest movement

Laboured breathing Hyperinflated chest Chest recession

Percussion Hyper

resonant

Pneumonia

Asthma

Croup

Reduced on affected side

Rapid, shallow

breaths

Reduced but

hyperinflated

Use of accessory muscles

Chest wall retraction

Stridor

Chest wall retraction Dull

Auscultation

Fine crackles in all zones

Wheezes may/ may not be

present

Bronchial

breathing

Crackles

Hyper

resonant Wheeze

Normal Stridor from upper airways

Infants with pneumonia – tachypnoea may be the only respiratory sign; may n ot have any abnormal signs on auscultation.

Tachypnoea is the most sensitive marker of respiratory disease, but is less spec ific than chest recession.

Sputum is rarely produced by children, as they swallow it. The main exception is suppurative lung disease, e.g. from cystic

fibrosis.

•

volume – small in circulatory insufficiency or aortic stenosis; increased in high-output states (stress , anaemia); collapsing in patent

ductus arteriosus, aortic regurgitation.

Inspection

Look for:

• respiratory distress

• precordial bulge – caused by cardiac enlargement

•

ventricular impulse – visible if thin, hyperdynamic circulation or left ventricular hypertrophy

•

operative scars – mostly median sternotomy or left lateral thoracotomy.

Palpation

Identifies:

•

apex at 4th to 5th intercostal space, mid-clavicular line, but not palpable in some normal infants,

plump children, or dextrocardia

• a thrill, which is a palpable murmur

•

heave from ventricular hypertrophy, e.g. at lower left sternal edge from right ventr icular 15 hypertrophy.

Cardiovascular system

Table 2.3 Normal resting pulse rate in children Age Beats/min <1 year 110–160

2–5 years 95–150

5–12 years 80–120

>12 years 60–100

Normal

Inspiration Expiration A P A P

1 2 1 2

Figure 2.7 The splitting of the second heart sound is easily heard in children . (A is closing of Aortic valve, P is closing of Pulmonary

valve).

Features of heart failure in infants:

• Poor feeding/faltering growth

• Sweating

• Tachypnoea

• Tachycardia

• Gallop rhythm

• Cardiomegaly

• Hepatomegaly

Features suggesting that a murmur is significant:

• Conducted all over the precordium

• Loud

• Thrill (equals grade 4–6 murmur)

• Any diastolic murmur

• Accompanied by other abnormal

cardiac signs.

Percussion

Cardiac border percussion is rarely helpful in children. You may wish to percuss the upper border of the liver though (you are going to

feel the lower border later).

Auscultation

Listen for heart sounds and murmurs.

Heart sounds

•

Splitting of second sound is usually easily heard and is normal (Fig. 2.7).

•

Fixed splitting of second heart sound in atrial septal defects.

•

Third heart sound in mitral area is normal in young children.

Murmurs

• Timing – systolic/diastolic/continuous.

• Duration – mid-systolic (ejection)/pansystolic.

•

Loudness – systolic murmurs graded:

– 1–2: soft, difficult to hear

– 3: easily audible, no thrill

•

– 4–6: loud with thrill.

Site of maximal intensity – mitral/pulmonary/ aortic/tricuspid areas.

•

Radiation:

– to neck in aortic stenosis

–

to back in coarctation of the aorta or pulmonary stenosis.

Draw your findings (see Ch. 18. Cardiac disorders).

Hepatomegaly

An important sign of heart failure in infants. An infant’s 16 liver is normally palpable 1–2 cm below the costal

margin.

Femoral pulses

Always palpate for femoral pulses in neonates. In coarctation of the aorta the femoral pulses are often difficult to palpate whilst upper

limb pulses are easy to feel; in older children there is brachiofemoral delay.

Blood pressure (see later in chapter)

Heart disease is more common in children with other congenital abnormalities or syndromes, e.g. Down or Turner syndrome.

Abdomen

Abdominal examination is performed in three major clinical settings:

• part of the routine clinical examination

• an ‘acute abdomen’ (see Ch. 14, Gastroenterology)

• recurrent abdominal pain/distension /constipation.

Associated signs

If not already done, examine:

• the eyes for signs of jaundice and anaemia

• the tongue for cyanosis

• the mouth for oral health and ulcers

• the fingers for clubbing.

Inspection

The abdomen is protuberant in normal toddlers and young children.

Occasionally, abdominal distension is caused by a grossly enlarged liver and/or spleen or kidney or mass.

Other abdominal signs are:

• dilated veins and spider naevi in liver disease

• abdominal striae

• operative scars (draw a diagram)

•

peristalsis – from pyloric stenosis, intestinal obstruction.

Are the buttocks normally rounded, or wasted as in malabsorption, e.g. coeliac disease or malnutrition?

Palpation

The abdominal wall muscles must be relaxed for pa lpation.

•

Kneel down so your face is level with the child’s face. Use warm hands, explain, relax t he child, and keep the parent close at hand. First

ask if it hurts.

•

Palpate in a systematic fashion – liver, spleen, kidneys, bladder, through the four abdominal qua drants. First, gently in each quadrant,

then more deeply in each.

•

Ask about tenderness. Watch the child’s face for grimacing as you palpate. A youn g child may become more cooperative if you palpate

first with their hand or by putting your hand on top of theirs.

Tenderness

•

Location – localized in appendicitis, hepatitis, pyelonephritis; generalized in mesenteric adenitis, peritonitis.

•

Guarding – often unimpressive on direct palpation in children. Pain on coughing, on movin g about/ walking/bumps during car journey

suggests peritoneal irritation. Back bent on walking may be from psoas inflammation in appendicitis. By incorporating play into

examination, more subtle guarding can be elicited. For example, a child will not be able to jump on t he spot if they have localized

guarding. You could ask them to blow out their tummy as big as they can, then suck it in as far as they can. This will elicit pain if they

have peritoneal irritation.

Hepatomegaly

Normal size is shown in Fig. 2.8.

Abdomen

Table 2.4 Causes of hepatomegaly Infection

Haematological

Liver disease

Malignancy

Metabolic

Cardiovascular Apparent

Congenital, infectious

mononucleosis, hepatitis, malaria, parasitic infection Sickle cell anaemia,

thalassaemia

Chronic active hepatitis, portal hypertension, polycystic

disease

Leukaemia, lymphoma,

neuroblastoma, Wilms’

tumour, hepatoblastoma Glycogen and lipid storage disorders,

mucopolysaccharidoses

Heart failure

Chest hyperexpansion from bronchiolitis or asthma

Figure 2.8 Normal findings. The liver edge is 1–2 cm below the costal margin in infants and young children. The spleen may be 1–2 cm

below the costal margin in infants.

On examining the abdomen:

• Inspect first, palpate later

• Superficial palpation first, deep

palpation later

• Guarding may be subtle in children

• Silent abdomen – serious!

• Immobile abdomen – serious!

Table 2.5 Causes of splenomegaly Infection

Haematological Malignancy

Other

Viral, bacterial, protozoal (malaria, leishmaniasis),

parasites, infective endocarditis Haemolytic anaemia

Leukaemia, lymphoma

Portal hypertension, systemic juvenile idiopathic arthritis (Still’s disease)

To identify hepatomegaly:

• Palpate from right iliac fossa.

• Locate edge with tips or side of finger.

• Edge may be soft or firm.

• Unable to get above it.

• Moves with respiration.

•

Measure (in cm) extension below costal margin in mid-clavicular line.

Percuss downwards from the right lung to exclude downward displacement due to lung hyperinflation for example in bronchiolitis.

Liver tenderness is likely to be due to inflammation from hepatitis.

The causes of hepatomegaly are listed in Table 2.4.

Splenomegaly

To identify splenomegaly:

• Palpate from right iliac fossa.

• Edge is usually soft.

• Unable to get above it.

• Notch occasionally palpable if markedly enlarged.

•

Moves on respiration (ask the child to take a deep breath).

•

Measure size below costal margin (in cm) in mid-clavicular line.

If uncertain whether it is palpable:

• use bimanual approach to spleen

• turn child onto right side.

A palpable spleen is at least twice its normal size!

Causes of splenomegaly are listed in Table 2.5.

Lung hyperexpansion in bronchiolitis or asthma may displace the liver and splee n downwards, mimicking

hepato/splenomegaly

Kidneys

These are not usually palpable beyond the neonatal period unless enlarged or the abdo minal muscles are hypotonic.

On examination:

• palpate by balloting bimanually

• they move on respiration

•

one can “get above them” (unlike the spleen or liver where you cannot palpate the upper border). Tenderness implies inflammation.

Abnormal masses

•

Wilms’ tumour – renal mass, sometimes visible, does not cross midline.

•

Neuroblastoma – irregular firm mass, may cross midline; the child is usually ve ry unwell.

•

Faecal masses – mobile, non-tender, indentable, often in left iliac fossa.

•

Intussusception – acutely unwell, mass may be palpable, most often in right upper quadrant.

Percussion

18 • Liver – dullness delineates upper and lower border. Record span.

• Spleen – dullness delineates lower border.

•

Ascites – shifting dullness. Percuss from most resonant spot to most dull spot.

Auscultation

Not very useful in ‘routine’ examination, but important in ‘acute abdomen’:

•

increased bowel sounds – intestinal obstruction, acute diarrhoea

•

reduced or absent bowel sounds – paralytic ileus, peritonitis.

Genital area

The genital area is examined routinely in infants and youn g children, but in older children and teenagers this is done only if relevant, e.g.

vaginal discharge, is there an inguinal hernia or a perineal rash?

In males

•

Is the penis of normal size? Is there hypospadias or chordee (head of the penis curves down ward or upward, at the junction of the head

and shaft of the penis)?

• Is the scrotum well developed?

•

Are the testes palpable? With one hand over the inguinal region, palpate with the other hand. Record if the testis is descended, retractile,

or impalpable.

• Is there any scrotal swelling (hydrocele or hernia)?

In females

• Do the external genitalia look normal?

Rectal examination

• Not performed routinely.

• Does the anus look normal?

Neurology/neurodevelopment

Brief neurological screen

A quick neurological and developmental overview should b e performed in all children. When doing this:

•

use common sense to avoid unnecessary examination

• adapt it to the child’s age

•

take into consideration the parent’s account of developmental milestones.

Watch the child play, draw, or write. Does vision and

hearing appear to be normal? Are the manipulative

skills normal? Can he walk, run, climb, hop, skip, dance?

Are the child’s language skills and speech satisfactory?

Are the social interactions appropriate?

In infants, assess primarily by observation:

• observe posture and movements of the limbs

•

when picking the infant up, note their tone. The limbs and body may feel norma l, floppy

(hypotonic), or stiff. Head control may be poor, with abnormal head lag on pull ing to sitting.

Most children are neurologically normal and do not require formal neurological examination of reflexes, tone, etc.

More detailed neurological examination

If the child has a neurological problem, a detailed and systematic neurological examination is required. Cranial nerves

Before about 4 years old you need some ingenuity to test for abnormal or asymmetric s igns – make it a game; ask them to mimic you:

I Smell – need not be tested in routine practice. Can be done by recognizing the smell of a hidden mint sweet, or hand towel splashed

with hand-cleaning gel.

II Visual acuity – determined according to age. Direct and consensual pupillary respon se tested to light and

accommodation. Visual fields can be tested if the child is old enough to cooperate.

III, IV, VI Full eye movement through horizontal and vertical planes. Is there a squi nt? You may need to hold the chin or head still.

Nystagmus? – but avoid extreme lateral gaze, as it can induce nystagmus in normal children.

V Clench teeth and waggle jaw from side to side against resistance.

VII Close eyes tight, smile, and show teeth.

VIII Hearing – whisper in each ear while supplying white noise with fingers outside the other ear. Ask the child what you have

whispered. If in doubt, needs formal assessment in a suitable environment.

IX Levator palati – saying ‘aagh’. Look for deviation of uvula.

X Recurrent laryngeal nerve – listen for hoarseness or stridor.

XI Trapezius and sternomastoid power – shrug shoulders and turn head agains t resistance.

XII Put out tongue and look for any atrophy or deviation.

Inspection of face

•

Myopathic face – expressionless, often with ptosis and drooping of corners of the m oth, is suggestive of neuromuscular disease, e.g.

myotonic dystrophy.

•

Ptosis. Unilateral ptosis suggestive of a third nerve palsy, bilateral ptosis, e.g. in myastheni a gravis.

• Tongue fasciculation – in spinal muscular atrophy.

Inspection of limbs

Muscle bulk

•

Wasting – may be secondary to cerebral palsy, meningomyelocele, muscle disorder, or from previous poliomyelitis.

•

Increased bulk of calf muscles – may indicate

Duchenne muscular dystrophy, or myotonic

conditions.

•

Contractures or a ‘windswept posture’ suggests increased tone, or a child with hypotonia and

restricted movements in utero.

•

Fasiculation of muscles – lower motor neurone lesions.

Muscle tone

Tone in limbs

•

The posture of the limbs may give a clue as to the underlying tone, e.g. scissoring of the legs,

pronated forearms, fisting, extended legs –

suggests increased tone (see Figs 4.3, 4.4 and 4.5). Sitting in a frog-like posture of the legs suggests hypotonia (see Fig. 9.2a), while

abnormal

posturing and extension suggests fluctuating tone (dystonia).

•

Assess by taking the weight of the whole limb and then bending and extending it aro und the joints. Assess the resistance to passive

movement as well as the range of movement.

•

Increased tone (spasticity) in adductors and

internal rotators of the hips, clonus at the ankles or increased tone on pronation of the fore arms at rest – usually from pyramidal

dysfunction. This is different from the lead-pipe rigidity seen in

extra-pyramidal conditions, which, if accompanied by a tremor is called ‘cog-wheel’ rigidity.

Truncal tone

•

In extra-pyramidal tract disorders, the trunk and head tend to arch backwards (exte nsor posturing).

•

In muscle disease and some central brain

disorders, the trunk may be hypotonic (Fig. 2.9a). The child feels floppy (hyp otonic) to handle and cannot support the trunk in sitting.

Head lag

•

This is best tested by pulling the child up by the arms from the supine position (Fig. 2.9b).

Power

Ask the child to hold his arms out straight with palms of hands upwards and close his eyes, and then observe for drift or tremor.

Power can be graded using the Medical Research Council (M RC) power scale:

5. normal

4. weak but active movements against gravity and resistance

3. able to move against gravity but not against

resistance

2. unable to move against gravity

1. minimal movement/flicker

0. no movement.

Power is difficult to assess in babies. Eliciting a Moro reflex (see Table 3.1) can be used to see if there are symmetrical movements of all

four limbs, as lack of movement suggests reduced power. Watch for antigravity movements and note motor function. Both provide

information about power. From 6 months onwards, watch the pattern of mobility a nd gait. Watch 19 the child standing up from lying and

climbing stairs.

(a)

(b)

Figure 2.9 Hypotonic infant. (a) When held prone,

the infant flops like a rag doll. (b) Marked head lag on traction of the arms.

From the age of about 4 years, power can be tested formally against gravity and resistance, first testing proximal muscle and then distal

muscle power and comparing sides.

Coordination

Assess this by:

•

finger–nose testing (use mother or teddy’s nose to reach out and touch if necessary)

• asking the child to walk heel–toe, jump, and hop

•

asking the child to build one brick upon another or using a peg-board, or do up a nd undo buttons, draw, copy patterns, and write.

Sensation

Ability to feel light touch can be used as a screening test. If loss of sensation is likely, e.g. meningomyelocele or spinal lesion (transve rse

myelitis, etc.), more detailed sensory testing with a wooden stick or neurotip is perform ed as in adults. In spinal and cauda equina lesions

there may be a palpable bladder or absent perineal sensation.

technique. Children can reinforce reflexes by biting hard or squeezing their hands to make fists.

Plantar responses

They are unreliable under 1 year of age. Up-going plantar responses provide additional eviden ce of pyramidal dysfunction.

Patterns of movement

Assessment of walking and running can be incorporated into playing a game, for example: ‘how fast can you run?’ Children over 5 years

of age can usually manage to walk heel-toe. Ask them to walk on a line on the floor ‘as though they were walkin g on a tightrope’.

•

In a hemiplegic gait the child holds one arm flexed whilst dragging the ipsilateral affected leg.

•

A toe–heel pattern of walking (toe-walkers), although often idiopathic, may suggest pyram idal tract (corticospinal) dysfunction or pelvic

girdle neuromuscular weakness. If you are unsure whether a gait is heel–toe or toe–heel, look at the pattern of shoe wear. Examining the

wear of shoe soles can also show you if there is asymmetry.

•

A broad-based gait may be due to an immature gait (normal in a toddler), secondary to a c erebellar disorder or a sign of lower limb

weakness.

•

Waddling gait may be due to proximal muscle weakness around the pelvic girdle.

•

Difficulty walking on the heels may suggest foot drop e.g. in Hereditary Motor Sensory Neuropathy.

•

Children may develop tight Achilles tendon due to weakness suggesting hemiplegia or myopathy. Subtle asymmetries in gait may be

revealed by Fogs’

test – children are asked to walk on their toes, heels,

the outside, and then the inside of their feet. Watch

for the associated movements in the upper limbs.

Observe them running. Look for asymmetry. Ask the

child to stand up from lying down supine. Children

up to 3 years of age will turn prone in order to stand

because of poor pelvic muscle fixation; beyond this

age, it suggests proximal neuromuscular weakness

(e.g. Duchenne muscular dystrophy) or low tone, which

could be due to a central (brain) cause. The need to

turn prone to rise or, later, as weakness progresses, to

push off the ground with straightened arms and then

use hands to walk up the legs to stand is known as

Gowers sign (see Fig. 29.6).

To complete the neurological examination examine

the child’s spine. Check the base of the spine for skin

lesions such as birth marks and hair, which may be

suggestive of spina bifida occulta, or a tethered cord.

Reflexes

Test with the child in a relaxed position and explain what you are about to do before approaching with a tendon hammer, or demonstrate

on a parent or toy first. Brisk reflexes may reflect anxiety in the child or a pyramidal disorder. Absent reflexes may be due to

20 a neuromuscular problem or a lesion within the spinal cord, but may also be due to inexpert examination

Bones and joints

A rapid screen to identify disorders of the musculoskeletal is paediatric gait, arms, legs, spine (pGALS; Fig. 2.10). If an abnorma lity is

found, a more detailed regional examination of the affected joint as well as the joint above and below should be performed (Fig. 2.11).

pGALS – musculoskeletal screening for school-aged children (Differences from adult GALS highlighte d in bold)

Screening questions

• Do you (or your child) have any pain or stiffness in your joints, muscles o r your back?

• Do you (or your child) have any difculty getting yourself dressed withou t any help?

• Do you (or your child) have any difculty going up and down stairs?

POSTURE AND GAIT ARMS

Observe standing (from front, back and sides)

Observe walking

‘Walk on your tip-toes, walk on

your heels’

‘Put your hands out straight in front of ‘ Turn your hands over and make a fist’

you’

ARMS

‘Pinch your index finger and thumb together’

‘Touch the tips of your fingers with your thumb’

Squeeze the metacarpo‘Put your hands ‘Reach up and touch phalange al joints for together palm to the sky’

tenderness

palm’

‘Look at

the ceiling’

‘Put your hands back

to back’

Figure 2.10 Paediatric gait, arms, legs, spine (pGALS) musculoskeletal screening f or school-aged children (From Foster HE, Kay LJ,

Friswell M, et al., Musculoskeletal screening examination (pGALS) for school-aged chi ldren based on the adult GALS screen. Arthritis

Rheum 2006; 55:709–16 and see http://www.arthritisresearchuk.org/ health-professionals-and-students/video-resources/pgals.aspx to

view video of the examination). Continued

pGALS – musculoskeletal screening for school-aged children—cont’d (Differences from ad ult GALS highlighted in bold)

ARMS LEGS

‘Put your hands behind your neck’

Feel for effusion at the knee ‘Bend and then straighten your knee’ (Active

movement of knees and feel for crepitus)

TEMPOROMANDIBULAR JOINT NECK AND SPINE

Passive movement of hip

‘Open your mouth and put three fingers in your mouth’ ‘Touch your shoulder with your ear’

Observe lateral flexion of cervical spine

‘Bend forward and touch your toes’

Observe curve of the spine

Figure 2.10, cont’d

Regional musculoskeletal assessment

Look:

• For signs of discomfort

• Skin abnormalities – rashes, scars, bruising, colour,

nail abnormalities

• Limb alignment, leg length, muscle bulk and

evidence of asymmetry

• Bony deformity, soft tissue, joint swelling or

muscle changes

Move:

• For each joint, ask the child to move the joint first (active movement).

Observe for discomfort, symmetry and range of movement.

• Passively move the joint, noting range of any restriction of movement (compa re sides but note bilateral changes)

• Lateral and rotational movements may be as important as flexion and extensio n.

Feel:

• Each joint, long bones and neighbouring soft tissues:

• Palpate along bones and joint line for tenderness

• Feel for warmth (infection or inflammation)

• Delineate bony or soft tissue swellings

• Check for joint effusion, most readily at the knee

Function:

• For lower limb joints – check gait

• For small joints such as hands - check grip

Figure 2.11 A regional musculoskeletal assessment. (From Foster HE and Brogan P: Oxford Handbook of Paediatric Rheumatology,

Oxford, 2011, Oxford University Press with permission and http://www. 22

arthritisresearchuk.org/shop/products/publications/information-for-medical-professiona ls/student-handbook/ clinical-assessment-of-the-

musculoskeletal-system.aspx).

Neck

Thyroid

•

Inspect – swelling uncommon in childhood; occasionally at puberty.

•

Palpate from behind and front for swelling, nodule, thrill.

• Auscultate if enlarged.

• Look for signs of hypo/hyperthyroidism.

Lymph nodes

Children often have easily palpable lymph nodes, particularly in the anterior cervical, inguinal and ax illary regions.

•

Bilateral anterior cervical lymph nodes, up to 2 cm in diameter, are often found in older healthy children o r if experiencing or recovering

from an upper respiratory tract infection.

•

Bilateral axillary nodes up to 1 cm and inguinal nodes up to 1.5 cm in diameter a re also found in older children. They may be

encountered in younger children with eczema.

•

Generalized lymphadenopathy may be present with viral infections, e.g. exanth ems or infectious mononucleosis or systemic diseases, e.g.

juvenile idiopathic arthritis or Kawasaki disease.

•

Supraclavicular nodes of any size at any age or nodes that are firm, non-tender of varia ble size and matted together warrant further

investigation, as they can be associated with malignancy.

•

Erythema, warmth, tenderness and fluctuation of a node suggest lymphadenitis of infective o rigin.

• Nodes of variable size and consistency – is it TB?

Eyes

Examination

Inspect eyes, pupils, iris, and sclerae. Are eye movements full and symmetrical? Is nystagmus detectable? If so, may have ocular or

cerebellar cause, or testing may be too lateral to the child. Are the pupils round (absence of posterior synechiae), equal, central, and

reactive to light? Is there a squint? (See Figs 4.8 and 4.9.)

Epicanthic folds are common in Asian ethnic groups.

Ophthalmoscopy

•

In infants, the red reflex is best seen from a distance of 20–30 cm. Partial or complete ab sence of red reflex occurs in corneal clouding,

cataract, and retinoblastoma.

•

Fundoscopy requires experience and cooperation. In infants, mydriatics are needed and an

ophthalmological opinion may be required.

•

In older children with headaches, diabetes mellitus or hypertension, optic fund i should be examined. Mydriatics are not usually needed.

Ears and throat

Examination is usually left until last, as it can upset a previously cooperative child. Explain what you are going to do. Show the parent

how to hold and gently Figure 2.12 Holding a young child correctly is essential for succes sful examination of the ear with an auroscope.

The mother has one hand on the child’s head and the other hand holding the upp er arm.

Figure 2.13 Holding a young child to examine the throat. The mother has one hand on the head and the other across the child’s arms.

restrain a younger child to ensure success and avoid possible injury (Figs 2.12 a nd 2.13).

Ears

Examine ear canals and drums gently, trying not to hurt the child. Look for anatomical landmarks on the ear drum and for swelling,

redness, perforation, dullness, fluid.

Throat

Rapidly observe the tonsils, uvula, pharynx, and posterior p alate. Older children (5 years +) will open their mouths as wide as possible

without a spatula. A spatula is required for young children. Look for redness, swelling, pus, or palatal petechiae. Also check the teeth for

23 dental caries and other gross abnormalities.

Cuff >2/3 upper arm.

Figure 2.14 Measurement of blood pressure. (Smaller cuffs give artificially

high readings)

Age Upper limit of

normal systolic

blood pressure

1–5 years 110 mmHg 6–10 years 120 mmHg

Communicating with children

Throughout the consultation, make sure that your communica tion with the child is appropriate for the child’s age and stage of

development (Table 2.6).

Investigations during

consultation

Blood pressure

Blood pressure must be measured in acutely unwell children as part of assessing “Circulation”. It should a lso form part of the assessment

whenever the blood pressure may be abnormal for example when assessing a child with renal or cardiac disease, diabetes mellitus, is

overweight or obese, receiving drug therapy which may cause hypertension , e.g. corticosteroids, and some neurological presentations or

disorders, e.g. headaches. Hypertension is considered in more detail in Chapter 19. Kidney an d urinary tract disorders.

Sphygmomanometer

When blood pressure is measured with a sphygmomanometer:

•

Show the child that there is a balloon in the cuff and demonstrate how it is blown up.

•

Use largest cuff which fits comfortably, covering at least two-thirds of the length of the upper arm (Fig. 2.14).

• The child must be relaxed and not crying.

•

Systolic pressure is the easiest to determine in young children and clinically the most useful.

•

Diastolic pressure is when the sounds disappear. May not be possible to disce rn in young

children.

Measurement

Must be interpreted according to a centile chart for gender and height (see Appendix Fig. A.4). Blood pressure is increased by tall

stature. Charts relating blood pressure to height are available and prefe rable; however, for convenience, charts relating blood pressure to

age are often used. An abnormally high reading must be repeated, with the child rela xed, on at least three separate occasions; the lowest

value is used.

Urinalysis

24 Urinalysis using a dipstick is required to identify protein, blood, and gluco se ketones in the urine. The presence

Figure 2.15 Measurement of peak flow rate with a peak flow meter.

of leucocytes and nitrites may assist with screening for a urine infection. In infants and young chil dren, obtaining an uncontaminated

sample for microscopy, culture, and sensitivity to identify a urinary tract infect ion can be problematic. This is considered in Chapter 19.

Kidney and urinary tract disorders.

Peak flow or lung function tests

Measuring peak flow or obtaining spirometry is a part of the respiratory exa mination in school age children. It can be performed in most

children from 5 years and is reliable in most 7 year olds. It is most often used to monitor control of asth ma (Fig. 2.15 and Appendix 5).

Summary and

management plan

By the end of the consultation, have you covered the ‘ideas, concerns and exp ectations’ (ICE) of the child and parents, not only for the

consultation but also about their attitudes to illness in general. It provides a better

Table 2.6 The reasons for talking with children

Why talk to children when you can get the information from the parent? The reasons a re:

• To establish rapport

• To obtain the child’s own views about their problems

• To know how the child feels about their health and life

• To reduce anxiety and fear and to improve compliance with assessment and treatment

• To determine the presence of associated emotional or psychiatric problems

Thought processes Preschool child

(2–5 years)

I am asleep, so everyone is asleep (they are the centre of their world)

When I fell, the floor hurt me (objects are alive)

My toy elephant is crying because the other

elephants won’t play with him (involvement in

pretend play)

School-age child

(6–11 years)

I want to watch TV but

George is on the Playstation – I'll ask Dad how much

longer she's allowed (concrete problem solving)

Will Amy still be my friend when I move schools (worries about the future)

I know mum gets very upset when I wet the bed, but I can't help it (understands the feelings of others)

Adolescent

(12–18 years)

I can handle things without Mum’s help (seeking

autonomy and separation) Should our country be at war? (develops concern about social issues)

Effect on the way we talk to them

Use short, concrete

questions within their

immediate experience

To avoid yes/no answers use a choice of options, e.g. when you go to nursery, what do you like to do – draw or dress up or

something else?

Use toys or puppets while interviewing, e.g. to

represent different people in the child’s life

Use familiar examples of

experience of others to

explore the child’s feelings and behaviour, e.g. when a boy was bullying an other boy at school, he came to see me so we could talk

about how he controls his temper. Do you ever get angry and bully others?

You can get at their hopes and dreams by asking them, ‘If I was a magician and could give you three wishes, what would they be?’

Should be given an

opportunity to be seen alone as they may have problems and difficulties not known to th e parents and that the adolescent does not want to

share with them

Upsetting thoughts can be explored in some adolescents using metaphors

understanding of where the family is coming from. If you go one step further and incorporate the information into your management

plan, you are more likely to be in tune with the family’s way of thinking. This might include:

• Ideas – ‘What do you think is the matter?’

•

Concerns – ‘What particular worries or concerns did you have?’

•

Expectation – ‘And what are you hoping that we might be able to do for you?’

Finally:

•

Summarize the key problems (in physical, emotional, social, and family terms, if relevan t).

•

List the diagnoses and if possible differential diagnoses. Draw up a management p lan to address the problems, both short and long term.

This could be reassurance, a period of observation, performing investigation s or therapeutic intervention.

•

Provide an explanation to the parents and to the child, if old enough. Consider p roviding further information, either written or on the

internet.

•

If relevant, discuss what to tell other members of the family.

•

Consider which other professionals should be informed.

•

Write a brief summary in the child’s personal child health record.

• Ensure your notes are dated and signed.

Acknowledgements

We would like to acknowledge contributors to this chapter in previous editions, whose work we have drawn on: Tom Lissauer (1st, 2 nd,

3rd, 4th Editions), Graham Clayden (1st Edition), Denis Gill (2nd Edition), Tauny Southwood (3rd Edition), Siobhan Jaques (4th

Edition), Sanjay Patel (4th Edition), Kathleen Sim (4th Edition). We thank L aura Haynes and Noa Keren for reviewing the chapter.

Summary

In taking a history and performing a clinical examination:

• The child’s age is a key feature – it will

determine the nature of the problem, how the consultation is conducted, the likel y diagnosis and its management.

• The interview environment should be welcoming – with suitable toys for young chil dren.

• Most information is usually obtained from a focused history and observation, rather tha n detailed examination, although examination is

also important.

• Check growth, including charts in personal child health record, and development.

• With young children – be confident but gentle, do not ask their permission to examin e them or they may say ‘no’, and leave unpleasant

procedures (ears and throat) until last.

• Involve children with the consultation, as appropriate to their age.

Always consider if there are child protection issues. Do you have any concer ns that this child is not adequately cared for,

or at risk? Any concerns must be reported to a senior member of the paedia tric team.

Further reading

Brugha R, Mariais M, Abrahamson E: Pocket Tutor Paediatric Clinical Examination, London, 2013, JP Medical Ltd.

Gill D, O’Brien N: Paediatric Clinical Examination Made Easy, ed 5, Edi nburgh, 2007, Churchill Livingstone.

Normal child development, hearing and vision

Influence of heredity and environment Fields of developmen t Developmental milestones Is

development normal? Pattern of child development Cognitive development

Analysing developmental progress 36

Developmental screening and assessment 37

Child health surveillance 38

Hearing 39

Vision 42

Features of normal child development, hearing and vision are:

•

children’s acquisition of developmental abilities follow a similar pattern

•

for developmental screening of young children, there are age limits by which time most children have achieved specific developmental

milestones

•

there is an integrated programme of screening tests, immunization, developmental revie ws and health promotion for all children – the

Healthy Child Programme

• all newborn infants have their hearing screened

•

assessment of vision relies on parental

observation; screening of visual acuity and squint occurs at school entry.

Children acquire functional skills throughout childhood. The term child developmen t is used to describe the skills acquired by children

between birth and about 5 years of age, during which there are rapid gains in mobility, speech and language, communication and

independence. During school age, evidence of developmental progression is pre dominantly through cognitive development and abstract

thinking, although there is also some further maturation of early developmental skills.

Normal development in the first few years of life is monitored:

•

by parents, who are provided with guidance about normal development in their ch ild’s personal child health record and in the book Birth

to Five, given to all parents in the UK

• at regular child health surveillance checks

•

whenever a young child is seen by a healthcare professional. A brief opportunistic over view should always be made at those times.

The main objective of assessing a young child’s development is to confirm normality of progress or the early detection of disordered

development in order to:

• help children achieve their maximum potential

•

provide treatment or therapy promptly

(particularly important for impairment of hearing and vision)

•

act as an entry point for the investigation, care and management of the child with special need s.

This chapter covers normal development. Delayed or disordered development and the child with special needs are considered in Chapter

Influence of heredity

and environment

A child’s development represents the interacti on of heredity and the environment on the developing brain. Heredity determines the

potential of the child, while the environment influences the extent to which th at potential is achieved. For optimal development, the

environment has to meet the child’s physical and psychological needs (Fig. 3.1). These vary with age and stage of development:

•

infants are totally dependent on their parents for all physical needs, and also requ ire a limited number of carers to meet their

psychological needs

Environment

Good vision and hearing

Warmth, clothing, shelter

Activity

with rest Security

Personal identity, self-respect,

and independence Affection and care Physical needs

Food Good health

Role

models

Psychological needs

Opportunity to learn from experience

Figure 3.1 Development can be impaired if the environment fails to meet the child’s phy sical or psychological needs.

Play

Gross motor Vision and fine motor

Hearing, speech and language

Social,

emotional and

behavioural

Figure 3.2 The four functional areas of child development and their core features. between childre n, but may vary in rate. It is like a

sequential story. Thus the normal pattern for acquisition of skills:

• is sequentially constant

•

should always be considered longitudinally, relating each stage to what has gone before an d what lies ahead

• varies in rate between children.

A deficiency in any one skill area can have an impact on other areas. For instance, a hearing impairment may affect a child’s language,

social and communication skills and behaviour. As a child grows, additional skills become important, such as attention and con centration

and how an individual child manages to integrate their skills. Neglect or child abuse c an affect a child at any age but may have a global

detrimental effect in younger children.

•

primary school age children can meet some of their physical needs and cope with many socia l relationships

•

adolescents and young adults are able to meet most of their physical needs while experiencing incre asingly complex

emotional needs.

Fields of development

There are four fields of developmental skills to consider whenever a young child i s seen (Fig. 3.2):

• gross motor

• vision and fine motor

• hearing, speech and language

• social, emotional and behavioural.

Gross motor skills are the most obvious initial area of developmental progre ss. As fine motor skills require good vision, these are

grouped together. Similarly, normal speech and language development depen d on reasonable hearing and so these are considered

together. Social, emotional and behavioural skills are a spectrum of psychological developm ent.

28 The acquisition of developmental abilities for each skill field follows a remarkably constant pattern

Developmental milestones

Chronological age, physical growth and developmental skills usually evolve hand in han d. Just as there are normal ranges for changes in

body size with age, so there are ranges over which new skills are acquir ed. Important developmental stages are called developmental

milestones.

When considering developmental milestones:

•

the median age is the age when half of a standard population of children achieve that lev el; it serves as a guide to when stages of

development are likely to be reached but does not tell us if the child’s skills ar e outside the normal range

•

limit ages are the age by which the

developmental milestones should have been achieved. Limit ages are usually tw o standard deviations (SDs) from the mean. They are

more useful as a guide to whether a child’s development is normal than the median ages . Failure to meet limit ages gives guidance for

action regarding more detailed assessment, investigation or intervention.

Median and limit ages

The difference between median and limit ages is shown by considering the age range for the developmental milestone of walking

unsupported. The percentage of children who take their first steps unsuppor ted is:

• 25% by 11 months

• 50% by 12 months

• 75% by 13 months

• 90% by 15 months

• 97.5% by 18 months.

The median age is 12 months and is a guide to the common pattern to expect, altho ugh the age range is wide. The limit age is 18 months

(2 SDs from the mean). Of those not achieving the limit age, many will be normal late walkers, but a proportion will have an underlying

problem, such as cerebral palsy, a primary muscle disorder or global developmental delay. A few may be understimulated from social

deprivation. Hence any child who is not walking by 18 months of age should be assessed and examined. Thus 18 months can be set as a

‘limit age’ for children not walking. Setting the limit age earlier may allow earlier identification o f problems, but will also increase the

number of children labelled as ‘delayed’ who are in fact normal.

'Commando crawl'

Walking toddler

Crawling on all fours

Immobile infant Bottom-shuffling

Figure 3.3 Early locomotor patterns. Most children crawl on all fours prior to walking, but some ‘bottomshuffle’ and others ‘commando

crawl’ (creep). Bottom-shuffling often runs in families. The late walking that often goes with thi s locomotor variant needs to be

differentiated from an abnormality such as cerebral palsy.

Variation in the pattern

of development

There is variation in the pattern of development between children. Taking motor development as an example, norma l motor development

is the progression from immobility to walking, but not all children do so in the same way. While most achieve mobility by crawling

(83%), some bottom-shuffle and others become mobile with their abdomen on the flo or, so-called commando crawling or creeping (Fig.

3.3). A very few just stand up and walk. The locomotor pattern (crawling, creeping, shuffling and just standing up) determines the age of

sitting, standing and walking.

The limit age of 18 months for walking applies predominantly to children who have had crawling as their early mobility pattern. Children

who bottom-shuffle or commando crawl tend to walk later than crawlers, so that w ithin those not walking at 18 months of age there will

be some children who demonstrate a locomotor variant pattern, with their developm ental progress still being normal. For example, of

children who become mobile by bottom-shuffling, 50% will walk independently by 18 month s and 97.5% by 27 months of age, with

even later ages for those who initially commando crawl. Some children who wal k late have joint hypermobility.

Why motor development is most rapid in the first years of lif e

Motor development generally follows a cephalocaudal pattern (head to toe) in relation to maturation of the central nervous system and

myelination. Myelin is required for nerves to function properly. The process of myelination in the brain begins in utero and most occurs

in the first 2 years of life, allowing rapid motor development. Thereafter, it continues to d evelop at a slower rate; in some structures, such

as the frontal lobes, myelination is only complete during adolescence.

Adjusting for prematurity

If a child has been born preterm, this should be allowed for when assessing developmental age by calculating it from the expected date

of delivery. Thus the anticipated developmental skills of a 9-month-old baby (chr onological age) born 3 months early at 28 weeks’

gestation are more like those of a 6-month-old baby (corrected age). Correctio n is not required after about 2 years of age when the

number of weeks early the child was born no longer represents a significant proportion of the child’s life.

Is development normal?

When evaluating a child’s developmental progress and considering whether it is no rmal or not:

•

concentrate on each field of development (gross motor; vision and fine motor; hearing, spee ch and language; social, emotional and

behavioural)

separately

•

consider the developmental pattern by thinking longitudinally and separately a bout each

developmental field. Ask about the sequence of skills achieved as well as those skills likely to

develop in the near future

•

determine the level the child has reached for each 29 skill field

•

now relate the progress of each developmental field to the others. Is the child progressing at a similar rate through each skill field, or

does one or more field of development lag behind the others?

•

then relate the child’s developmental

achievements to age (chronological or corrected).

This will enable you to decide if the child’s developmen

3tal progress is normal or delayed. Normal development implies steady progres s in all four

developmental fields with acquisition of skills occurring before limit ages are r eached. If there is developmental delay, does it affect all

four developmental fields (global delay), or one or more developmental field only (specific d evelopmental delay)? As children grow

older and acquire further skills, it becomes easier to make a more accurate assessment of their abilities and developmental status.

Summary

Assessing child development

When assessing a young child’s development:

• consider the four fields of developmental skills:

gross motor; vision and fine motor; hearing, speech and language; social, emotional and b ehavioural

• the acquisition of developmental abilities follows a similar pattern between children, but may vary in rate and still be normal.

Terms used are:

• developmental milestones: the age of

acquisition of important developmental skills

• median age: the age when half the population acquire a skill; serves as a guide to normal p attern of development

• limit age: the age when a skill should have been acquired; further assessment is indicated if not achieved.

When evaluating a child’s development, consider:

• each skill field separately

• the sequence of developmental progress

• the stage the child has reached for each skill field

• if progress is similar in each skill field

• only at the end, the child’s overall

developmental profile and how that relates to the child’s age.

Pattern of child development

This is shown pictorially for each field of development, including key developmental milestone s and limit ages:

• gross motor development (Fig. 3.4 and Table 3.1)

• vision and fine motor (Fig. 3.5)

30 • hearing, speech and language (Fig. 3.6)

• social, emotional and behavioural (Fig. 3.7).

Table 3.1 The primitive reflexes evident at birth gradually disappear as postural reflex es essential for independent sitting and walking

emerge

Primitive reflexes

Moro – sudden

extension of the head causes symmetrical

extension, then flexion of the arms

Grasp – flexion of

fingers when an object is placed in the palm

Rooting – head turns to the stimulus when

touched near the mouth Stepping response – stepping movements when h eld vertically and dorsum of feet touch a surface

Asymmetrical tonic neck reflex – lying

supine, the infant adopts an outstretched arm to the side to which the head is turned

Sucking reflex – child sucks when nipple/teat placed in their mouth (automatic feeding

action)

Postural reflexes

Labyrinthine righting – head moves in

opposite direction to which the body is tilted Postural support

– when held upright, legs take weight and baby may push up

(bounce)

Lateral propping – in sitting, the arm extends on the side to which the child falls as a saving me chanism

Parachute – when

suspended face down, the baby’s arms extend as though to save

himself

In order to screen a young child’s development, it is only necessary to know a limited number of key developmental milestones and their

limit ages.

Cognitive development

Cognition refers to higher mental function. This evolves with age. In infancy, thought processes are centred aroun d immediate

experiences. The thought processes at different ages are described in Table 2.6. Those of preschool children (which have been called

preoperational thought by Piaget, who described children’s intellectual development) te nd to be that:

• they are the centre of the world

•

inanimate objects are alive and have feelings and motives

• events have a magical element

•

everything has a purpose. Toys and other objects are used in imaginative play a s aids to thought to help make sense of experience and

social relationships.

In middle-school children, the dominant mode of thought is practical and orderly, tied to immediate

Gross motor development (median ages)

Newborn Newborn

Limbs flexed, symmetrical posture Marked head lag on pulling up

6–8 weeks 6–8 months

Raises head to 45º in prone Sits without support

– at 6 months: with round back

– at 8 months: with straight back (shown)

8–9 months 10 months

Crawling Stands independently Cruises around furniture

12 months 15 months

Walks unsteadily,

broad gait, hands apart Walks steadily Figure 3.4 Gross motor development (me dian ages).

Vision and fine motor (median ages)

6 weeks 4 months

Follows moving object or face by turning the head (illustrated). Reaches out for toys

4–6 months 7 months

Palmar grasp Transfers toys from one hand to another

10 months 16–18 months

Mature pincer grip Makes marks with a crayon

14 months–4 years 2–5 years

Line (2 years) Circle (3 years) Cross (3

years)

Tower Tower of three of six (18 months) (2 years) Tower of eight or a tra in with four bricks

years)

Square (4 years) Triangle (5 years)

Bridge (from a model) 3 years

Steps (after

demonstration) 4 years Ability to draw without seeing how it is done. Can copy (draw after seeing it done) 6 months earlier.

Figure 3.5 Vision and fine motor skills (median ages).

Hearing, speech and language (median ages)

Newborn 3–4 months aa, aa

Startles to loud noises

Vocalises alone or when spoken to, coos and laughs

7 months 7–10 months dada mama

Turns to soft sounds out of sight

c d At 7 months, sounds used indiscriminately. At 10 months, sounds used discriminately to parents

12 months 18 months

Dink Where is your nose?

Two to three words other than 'dada' or 'mama' f 6–10 words. Shows two parts of the body

20–24 months

Give me

teddy

–3 years

Push me fast daddy

Joins two or more words to make simple phrases

Figure 3.6 Hearing, speech and language (median ages).

Talks constantly in 3–4 word sentences

Social, emotional and behavioural development (median ages)

6 weeks 6–8 months

Smiles responsively

Puts food in mouth

10–12 months 12 months

Waves bye-bye, plays peek-a-boo c

Drinks from a cup with two hands

18 months 18–24 months

Holds spoon and gets food safely to mouth Symbolic play

2 years 2.5–3 years

Dry by day. Pulls off some clothing

Parallel play. Interactive play evolving. Takes turn h

Figure 3.7 Social, emotional and behavioural development (median ages).

Fields of development with limit ages

Gross motor development

• Acquisition of tone and head control

• Primitive reflexes disappear

• Sitting

• Locomotor patterns

• Standing, walking, running

• Hopping, jumping, peddling

Gross motor Limit ages

Head control

Sits unsupported Stands with support Walks independently 4 months 9 months 12 months 18 months

Vision and fine motor development

• Visual alertness, fixing and following

• Grasp reflex, hand regard

• Voluntary grasping, pincer, points

• Handles objects with both hands, transfers from hand to hand

• Writing, cutting, dressing

Vision and fine motor Limit ages

Fixes and follows visually

Reaches for objects Transfers

Pincer grip

3 months

6 months

9 months

12 months

Hearing, speech and language development

• Sound recognition, vocalisation

• Babbling

• Single words, understands simple

requests

• Joining words, phrases

• Simple and complex

conversation

Hearing, speech and language

Limit ages

Polysyllabic babble Consonant babble Saying 6 words with meaning

Joins words

3-word sentences 7 months 10 months 18 months

2 years 2.5 years

Social, emotional, behaviour development

• Smiling, socially responsive

• Separation anxiety

• Self-help skills, feeding, dressing,

toileting

• Peer group relationships

• Symbolic play

• Social/communication behaviour

Social behaviour Limit ages

Smiles

Fear of strangers Feeds self/spoon Symbolic play Interactive play 8 weeks

10 months 18 months 2–2.5 years 3–3.5 years

Developmental milestones by median age

Age Gross motor

Newborn Flexed posture

7 mo Sits without support

1 y Stands

independently 15–18 mo Walks independently and steadily

Vision and fine motor

Follows face or light by 2 weeks Transfers objects from hand to hand

Pincer grip (10 mo) Points

Immature grip of pencil

Random scribble

Hearing, speech, and language

Stills to voice

Startles to loud noise Turns to voice

Polysyllabic babble 2–3 words

Understands name 6–10 words

Points to two body parts

y Runs and jumps Draws

3-word to 4-word sentences

Understands two joined commands

Social,

emotional, and behavioural

Smiles by 6 weeks

Finger feeds

Fears strangers Drinks from cup Waves

Feeds self with spoon

Beginning to help with dressing

Parallel play

Clean and dry

Social, emotional and behavioural

Hearing, speech and language

Vision and fine motor

Gross

motor

Birth 1 year 2 years

3 years 4 years 5 years Figure 3.8 Developmental skills are acquired in a serial way. Th ere are features of all skill domains emerging

from birth, but there are ages, shown here by the colour blocks becoming more intense , when there is particularly rapid expansion of the

skill area.

circumstances and specific experiences. This has been called operational thought.

It is only in the early to midteens that an adult style of abstract thought (formal operational thought ) begins to develop, with the ability

for abstract reasoning, testing hypotheses and manipulating abstract concepts.

Analysing developmental

progress

Detailed assessment

36 So far, emphasis has been mainly on thinking about developmental progress in a longitudinal way, taking each skill field and its

progression separately, and then relating the progress in each field to that occurring in the others, and to chronological age. This is the

fundamental concept of learning how to think about developmental assessment of children. Detailed questioning and observation is

required to assess children with developmental problems but is unnecessary whilst screening developmen tal progress in normal clinical

practice, when a short-cut approach can be adopted.

The short-cut approach

This concentrates on the most actively changing skills for the child’s age. The age at which developmental progress accelerates differs in

each of the developmental fields. Fig. 3.8 demonstrates the age when there is the most rap id emergence of skills in each developmental

field. This means there is for:

•

gross motor development: an explosion of skills during the first year of life

•

vision and fine motor development: more evident acquisition of skills from 1 year onwards

•

hearing, speech and language: a big expansion of skills from 18 months of age

•

social, emotional and behavioural development: expansion in skills particularly from 2.5 years of age. Understanding the time when

acceleration in each skill

field becomes more obvious and knowing the child’s

age helps guide initial developmental questioning.

Thus for a child aged:

•

less than 18 months – it is likely to be most useful to begin questions around gross motor abili ties, acquisition of vision and hearing

skills, followed by questions about hand skills

•

18 months to 2.5 years – initial developmental questioning is likely to be most usef ully directed at acquisition of speech and language

and fine motor (hand) skills with only brief questioning about gross motor skills (as i t is likely the child would have presented earlier if

these were of concern)

•

2.5 to 4 years – initial questions are best focused around speech and language and s ocial, emotional, and behaviour development.

Developmental questioning needs to cover all areas of developmental progression but this more focused way of taking a developmental

history allows a useful short-cut approach. It directs the assessment to current abilities instead of c oncentrating on parents trying to

remember the age when their child acquired developmental milestones sometime in the p ast.

Observation during questioning

Of equal importance to taking the developmental history is the examin er’s ability to observe the child throughout any visit. Not only will

this provide an almost immediate guide to where to begin questioning but it also off ers the opportunity for a rapid overview of the

child’s abilities, behaviour, peer group and parent–child relationsh ips, all of which will go towards determining the overall picture about

the child and his/ her developmental abilities.

Equipment for developmental testing

Simple basic equipment is all that is needed for most developmental assessments. Equipment is aimed at

Summary

Analysing child development

When analysing a young child’s developmental progress:

• consider the child’s age and then focus your

questions on the areas of likely current developmental progress

• offer the child suitable toys to find out about skills through play

• observe how the child uses the toys and interacts with people.

bringing out the child’s skills using play. Cubes, a ball, picture book, doll and min iature toys such as a tea set, crayons and paper allow a

quick but useful screen of mobility, hand skills, play, speech and language and behaviour. These items allow the child to relax by havin g

fun at the same time as facilitating observer assessment of his skills.

Developmental screening

and assessment

Developmental screening (checks of whole populations of children at set ages by trained profession als) is a formal process within the

child health surveillance and promotion programme. It is also an essential role of all health pr ofessionals to screen a young child’s

developmental progress opportunistically at every health contact, e.g. by the ge neral practitioner for a sore throat, in the Accident and

Emergency department for a fall, or on admission to a paediatric ward. In this way , every child contact is optimized to check that

development is progressing normally.

There are a number of problems inherent in developmental screening:

•

it is a subjective clinical opinion and therefore has its limitations

•

a single observation of development may be

limited by the child being tired, hungry, shy or

simply not wishing to take part

•

while much of the focus of early developmental progress in infants is centred on moto r

development, this is a poor predictor of cognitive function and later school performance.

Development of speech and language is a better predictor of cognitive function but is less easy to assess rapidly. It is likely to manifest at

an age

when there is increased surveillance by health

professionals.

The reliability of screening tests can be improved by adding a questionnaire completed by parents beforehand . Screening is being

increasingly targeted towards children at high risk or when there are parental concerns.

Developmental assessment is the detailed analysis of particular areas of development and follows concern after screening that a child’s

developmental progress may be disordered in some way. It is part of the diagnostic process and includes investigation, therapy a nd

advice on how to optimize the child’s progress. Developmental assessment is by referral to a specialist service such as the local

multidisciplinary child development service, which is able to offer input by a paediat rician and therapists.

A range of tests have been developed to screen or to assess development in a formal reproducible manner. These include:

•

screening tests, e.g. the Schedule of Growing Skills and the Denver Developm ental Screening Test

•

standardized tests that assess the overall

development of infants and young children, e.g. 37 Griffiths and the Bailey Infant Dev elopment Scales, which are used, for instance, in

follow-up studies of preterm infants

•

standardized tests concentrating on assessing specific aspects of development, e.g. the Reynell Language Scale, the Gross Motor

Function Measure, the Autism Diagnostic Interview and the Autism Diagnostic O bservation Schedule. These tests are time consuming

and require training for

reliable results.

Cognitive function (higher mental function) can be

assessed objectively with formal intelligence quotient (IQ) tests. However, IQ tests:

•

may be affected by cultural background and linguistic skills

• do not test all skill areas

•

do not necessarily reflect an individual child’s ultimate potential

•

may be compromised by specific disabilities, such as a motor disorder as in cerebral pa lsy.

‘Verbal’ reasoning tests, especially those for younger children, reflect general intellectual skills, p articularly relating to language.

‘Performance’ or ‘non-verbal’ reasoning tests assess abilities independent of language. Verbal and performance testing together with

other tests of cognitive function such as processing speed and working memory allows formulation of a verbal IQ and performanc e IQ,

which together give an overall IQ figure. Children with disabilities may have problems with speech or hand skills that may compromise

testing, so that an overall result in these situations has to be interpreted with care.

Cognitive (higher mental function) assessment of school-age children using IQ an d other tests is carried out by clinical or educational

psychologists.

Summary

Developmental screening

and assessment

• Developmental screening – checks of whole

populations or groups of children at set ages by trained professionals.

• Developmental assessment – detailed analysis of overall development or specific ar eas of development.

Child health surveillance

In the UK, the Healthy Child Programme spans from pregnancy to 19 years of age (Table 3.2), but the main emphasis is on ages 0–5

years.

Table 3.2 Overview of the Healthy Child Programme in UK provided by integrated loca l services Age

Screening

Immunization

Developmental reviews

0–2 y

Antenatal health promoting visit

Newborn examination (<72 h old)

Bilirubin check by 48 h if

jaundiced

Biochemical screening (Day 5)

Repeat newborn examination (6–8 weeks)

Hepatitis B, BCG (if at risk)

Diphtheria, tetanus, pertussis, polio, Hib, PCV, rotavirus,

meningococcal B and C and MMR

New baby review (by 14 days) 12–13-mo review

Health

promotion

Feeding, weaning, safety at home and in cars, passive

smoke, SIDS prevention

Personal child health record and Birth to Five book.

2–10 y

Preschool vision and hearing screen

National Child

Measurement

Programme (4–5 years)

10–19 y

National Child Measurement Programme (10–11 y)

Children’s flu, MMR Diphtheria, tetanus, pertussis, polio

Tetanus, diphtheria, polio, meningococcal ACWY, HPV (girls)

2–2 12 y (Ages and Stages questionnaire)

Preschool review

Nutrition, obesity

prevention, injury

prevention, emotional health, psychological well-being

Health review at school transition at 10–11 y and 15–16 y (questionnaires) Encourage physical activity, emotional health,

psychological well-being and mental health, reduction of risk-taking behaviour, sexual health

38 Hib: Haemophilus influenzae type B; HPV: human papilloma virus; MMR: mea sles, mumps and rubella; PCV: pneumococcal virus;

SIDS: sudden infant death syndrome.

It offers families a programme of:

• screening tests – early detection

• immunization – disease prevention

• developmental reviews

•

health promotion – information and guidance to support parenting and healthy lifestyle choices.

From 0 to 5 years of age, there are a limited number of universal health visitor reviews:

• antenatal health promoting visit

• the new baby review

•

6–8-week assessment (the health visitor or family nurse-led check)

• 1-year assessment

• 2–2 12-year review.

Their aim is to:

•

support parents to give their child the

optimal start in life and identify if families need extra help

•

early identification and treatment of problems to reduce health and social care needs later in life

•

review immunization status to ensure full coverage

•

allow collection of specific public health data at a national level.

The programme relies on parents identifying problems with health, development, hearing and vision, rather than universal screening.

Health visitor support is tailored to need, with most input reserved for families with complex needs.

Details of each review are entered into the child’s personal child h ealth record kept by parents and brought whenever the child is seen by

a health professional.

Summary

The child health surveillance and promotion programme

• Is provided in primary care.

• Includes screening, immunization,

developmental reviews and health promotion.

• Emphasizes the role of parents in the early

detection of problems with health,

development, hearing and vision.

Hearing

During the later stages of pregnancy, the fetus responds to sound. At birth, a baby startles to sound, and there is a marked preference for

voices. The ability to locate and turn towards sounds comes later in the first year.

Hearing tests

Newborn

Early detection and treatment of hearing impairment improves the outcome for speech and language and behaviour. In orde r to detect

hearing impairment in the newborn period, hearing can be tested by:

•

otoacoustic emission (OAE; Fig. 3.9a) – an earphone produces a sound which ev okes an echo or emission from the ear if cochlear

function is normal

•

auditory brainstem response (ABR) audiometry (Fig. 3.9b) – computer analysis of

electroencephalogram waveforms evoked in response to a series of auditory stimuli .

Universal neonatal hearing screening has been introduced in many countries. Since 2006 in the U K, OAE testing is offered as initial

screening in well babies. This is often done before the child leaves the hospital after birth or within the f irst few weeks of life. If the test

is abnormal, the infant is referred to an audiologist and ABR audiometry is carried out if necessary. Babies on the special care baby unit

are usually screened with both OAE and automated ABR.

Hearing tests in older children are shown in Figs 3.10, 3.11 and 3.12.

Distraction testing

This was the mainstay of hearing screening but has been replaced by universal neonatal screening. It is now only used as a screening test

for infants at 7–9 months of age who have not had newbor n screening or cannot tolerate or cooperate with more complex testing. The test

relies on the baby locating and turning appropriately towards sou nds, but before the child develops the ability for object permane nce,

that is, the ability to remember that an assessor is standing behind them even without seeing them. High-frequency and low-frequency

sounds are presented out of the infant’s field of vision. Testing is unreliable if not carried out by properly trained staff, because it c an be

difficult to identify hearingimpaired infants as they are particularly adept at using no n-auditory cues.

Visual reinforcement audiometry

This is particularly useful to assess hearing impairment in infants between 10 and 18 mo nths of age, although it can be used between the

ages of 6 months and 3 years. It is also used in some older children with learning disability. Hearing thresh olds are established using

visual rewards (illumination of toys) to reinforce the child’s head turn to stimuli of different frequencies. Localisation of the stimuli is not

necessary and insert earphones may be used to obtain ear-specific information, thus making it more useful than free field tests such as

distraction and performance testing.

Performance and speech

discrimination testing

Performance testing using high-frequency and low39 freque ncy stimuli and speech discrimination testing

Hearing screening of newborn infants a Otoacoustic emission (OEA)

3Click generated from ear phones Detects normal sound vibrations from outer hair cel ls in the cochlea

Advantages:

• simple and quick to perform, though is affected by ambient noise

Disadvantages:

• misses auditory neuropathy as function of auditory nerve or brain not tested

• relatively high false-positive rate in first 24 hours after birth as vernix or amn iotic fluid are still in

ear canal

• not a test of hearing but a test of cochlear function

b Auditory brainstem response (ABR)

Auditory nerve to brain

Auditory stimulus via earphones Signal via ear and auditory nerve to brain

EEG waveforms – computerised analysis determines if normal or abnormal

Advantages:

• screens hearing pathway from ear to brainstem

• low false-positive rate

Disadvantages:

• affected by movement, so infants need to be asleep or very quiet, so time con suming

• complex computerised equipment, but is mobile

• requires electrodes applied to infant’s head, which parents may dislike

Figure 3.9 Universal neonatal hearing screening is usually performed using (a) ot oacoustic emission testing or (b) auditory brainstem

response audiometry.

Figure 3.10 Distraction hearing test. The test is hard to perform reliably as babies with he aring difficulties learn to compensate by using

shadows, smells and guesswork to locate the presenter. The test must be done by well-trained p rofessionals.

Figure 3.12 Speech discrimination testing using miniature toys to detect hearing loss in children between 18 months and 4 years of age.

Figure 3.11 Visual reinforcement audiometry. While an assistant plays with the chil d, sounds of a specific frequency are emitted from a

speaker. When the child turns to it, the tester lights up a toy by the speaker to reinfo rce the sound with a visual reward. This test is

particularly useful at 10–18 months of age. Box 3.1 Hearing checklist for par ents

Shortly after birth

By 1 month

By 4 months

By 7 months

By 9 months

By 12 months

Startles and blinks at a sudden noise, e.g. slamming of door

Notices sudden prolonged sounds, e.g. a vacuum cleaner, and pauses and listens when they begin

Quietens or smiles to the sound of your voice even when he/she cannot see you. May also turn the head or eyes towards you if you come

up from behind and speak from the side

Turns immediately to your voice across the room or to very quiet noises made on each side, so long as not too occupied with other things

Listens attentively to familiar everyday sounds and searches for very quiet sounds made out of s ight. Should also show pleasure in

babbling loudly and tunefully Shows some response to his/her own name and to other f amiliar words. May respond when you say ‘no’

and ‘bye-bye’, even when cannot see any accompanying gesture

If you suspect that your baby is not hearing normally, seek advice from your health vi sitor or doctor.

Used with permission from Dr Barry McCormick, Children’s Hearing Assessment Cen tre, Nottingham, UK.

using miniature toys can be used for children with suspected hearing loss at 18 months to 4 years of age or for older children with

learning disabilities.

Audiometry

Threshold audiometry using headphones, where the c hild responds to a pure tone stimulus, can be used to detect and assess the severity

of hearing loss in children from 4 years of age.

Parental concern

At all ages, parental concern about hearing warrants further assessment. A checklist for parents of normal hearing responses during

infancy is shown in Box 3.1. be detected at about 30 cm distance but appear fuzzy. The peripheral retina is well developed but the fov ea

is immature and the optic nerve is unmyelinated. Well-focuse d images on the retina are required for the acquisition of visual acuity and

any obstruction to this, e.g. from a cataract, will interfere with the normal development of the optic pathw ays and visual cortex unless

corrected early in life. This type of visual loss can be permanent and is called amb lyopia.

In the first few weeks of life, infants develop the capacity to maintain fixatio n on a moving target such as a face or dangling coloured

ball, though they may have a transient squint. By 6 weeks of age most babies can perform this task. By 5 months of age a baby can fixate

on a 2.5-cm block; by 12 months on a 1-mm ‘hundreds-and-thousands’ cake sprinkle. C larity of vision also matures: visual acuity

improves from 6/200 at birth to 6/60 at 3 months and 6/6 at 5 years of age.

Summary

Hearing

• Early detection and treatment of hearing impairment improves the outcome o f speech and language and behaviour.

• Newborn hearing screening is performed for the early identification of hearing impairmen t.

• If there is parental concern about hearing, further assessment is warranted.

Vision testing

The assessment of vision at different ages is shown in Table 3.3. In the UK, orthoptist-led screenin g is recommended for children aged

4–5 years to detect reduced visual acuity, primarily amblyopia.

Summary

Vision

A newborn infant’s vision is limited; there is some 42 visual awareness of light sources, faces and areas of

high contrast. Visual acuity is low – large targets can

Vision

• Visual acuity is low at birth but gradually increases to normal adult levels by ab out 5 years of age.

• Vision screening is performed at school entry or in preschool children.

Table 3.3 Testing vision at different ages

Age Test

Birth Aware of light

May fix and follow horizontally a face or large coloured toy

6–8 weeks Face fixation and following large coloured toy

6 mo Fixates 2.5-cm brick

Visually directed reach

Responds to preferential looking tests of acuity (e.g. Keeler or Teller cards)

12 mo Fixates 1-mm crumb

1–2 y Preferential looking tests of acuity (e.g. Cardiff cards)

2–3 y Names or matches pictures in linear array (e.g. Kay pictures or Lea symbols). D istant and near

3 y + Names or matches letters (e.g. Sonksen logMAR, or logMAR crowded). Distant  and near
Note: Using single letters/pictures should not be used as these overestimate acu ity and will miss significant interocular differences (i.e.
miss amblyopia).
a
At all ages: observe the child’s eyes. Is eye contact established? What is the child looking  at? How does the child respond to what is
apparently seen?
Acknowledgements
We would like to acknowledge contributors to this chapter in previous editions, whose work we have drawn on: Angu s Nicoll (1st
Edition), Diane Smyth (2nd, 3rd, 4th Edition), Neil Wimalasundera (4th Edition) .
Further reading
Meggitt C: Child Development: An Illustrated Guide: Birth to 19 Years, Harlow, 2 012, Pearson Education Limited Websites 
(accessed November 2016)
Birth-to-five development timeline: Available at: http://www.nhs.uk/Tools/Pag es/birthtofive.aspx#close. An interactive guide to
child development, including videos
Evidence underpinning the Healthy Child  Programme 2015: Available at: https://www.gov.uk/
government/publications/healthy-child-programme
-rapid-review-to-update-evidence
Healthy Child Programme: Pregnancy and the first five years of life: Available at:  https://www.gov.uk/
government/publications/healthy-child-programme
-pregnancy-and-the-first-5-years-of-life
NICE guideline 2012: Social and emotional wellbeing: early years. Available at: https://www.nice.org.uk/ guidance/ph40
Vaccination schedule, UK: Available at: https://www .gov.uk/government/publi cations/the-complete
-routine-immunisation-schedule
4 
Developmental problems and   the child with special need s
  Abnormal development – key    concepts    Developmental delay     Abnormal motor development   
Disordered speech and language    development    Abnormal develop ment of    social/communication skills 
  (autism spectrum disorders)    Slow acquisition of cognitive skills/    general learning difficulty 
46
47
47
53
53
  Specific learning difficulty  54
  Hearing impairment  56
  Abnormalities of vision    and the ocular system  58
  Multidisciplinary child    development services  60
  Education  62
  Transition of care to adult services  62
  The rights of disabled children  63
54
Features of developmental problems and the child with special needs are:
•
developmental problems present in the perinatal period and throughout childhood
•
with developmental delay, the difference with their peers increases as the child gets old er
•
cerebral palsy is the most common cause of motor impairment in children
•
in autism spectrum disorder, there is abnormal development of social and communication  skills
•
attention deficit hyperactivity disorder (ADHD) needs to be differentiated from normal, boister ous children
•

early detection of severe impairment of hearing or vision is important to minimize its detr imental effect on development

•

their medical, social, emotional and educational requirements are complex

•

are looked after by local multidisciplinary child development services.

Any child whose development is delayed or disordered

needs assessment to determine the cause and management. Neurodevelopmental probl ems present at all

ages, with an increasing number now recognized antenatally (Table 4.1). Many are ide ntified in the neonatal period because of abnormal

neurology or dysmorphic features. During infancy and early childhood, prob lems often present at an age when a specific area of

development is most rapid and prominent (i.e. motor problems during the first 18 months of age, speech and language problems between

18 months and 3 years, and social and communication disorders between 2–4 years of age). Abnormal development may be caused not

only by neurodevelopmental disorders (Table 4.2) but also by ill health or if the child’s physic al or psychological needs are not met.

When carrying out a clinical examination on a young child with a possible developmenta l problem:

•

ask the parent what the child’s abilities are. Start at a level below what a child of tha t age is likely to be able to do to retain confidence of

the parent and child

• observe the child from the first moment seen

•

make it fun. The assessment should be perceived as a game by the child

•

toys to use are cubes, a ball, car, doll, pencil, paper, pegboard, miniature toys, picture book. A dapt their use to the child

•

formulate a developmental picture in terms of gross motor; vision and fine motor; hearin g, speech and language; and social, emotional

and

Table 4.1 Features that may suggest neurodevelopmental concerns by age

Prenatal

Perinatal

Infancy

Preschool

School age

Any age

Positive family history, e.g. affected siblings or family members; ethnicity, e.g. Tay–Sach s disease in Jewish parents

Antenatal screening tests, e.g. ultrasound including nuchal thickness, triple blood test or non-invasive prenatal testing (NIPT, cell-free

DNA testing of fetal cells from maternal blood) for conditions such as Down syn drome; neural tube defects, e.g. spina bifida and

hydrocephalus. Amniocentesis for suspected genetic disorders

Following birth asphyxia/neonatal encephalopathy

Preterm infants with intraventricular haemorrhage/periventricular leucomalacia, posthae morrhagic hydrocephalus

Dysmorphic and neurocutaneous features

Abnormal neurological behaviour – tone, feeding, movement, seizures, visual inattentio n Global developmental delay

Delayed or asymmetric motor development

Neurocutaneous and dysmorphic features (cataracts)

Vision or hearing concerns by parents or after screening

Speech and language delay

Abnormal gait, clumsy motor skills

Poor social communication skills

Behaviour – stereotypical, overactivity, inattention

Problems with balance and coordination

Learning difficulties

Attention control

Hyperactivity

Specific learning difficulties, e.g. dyslexia, dyspraxia

Social communication difficulties

Acquired brain injury, e.g. after meningitis, head injury

Loss of skills

behaviour. As you become more confident, you will screen all these skills simulta neously

•

assess the child to a short level above what they appear able to do in order to establish their ceiling of skill for each developmental area

•

remember to adjust developmental expectations for prematurity

•

at the end of developmental screening you should be able to describe what a child is able to do and what the child cannot do, if the

abilities are within normal limits for age and, if not, which developmental fields are ou tside the normal range

•

clinical signs to look for that may aid diagnosis or guide investigation are:

–

patterns of growth: height, weight, head circumference with centile plotting

–

dysmorphic features: face, limbs, body proportions, cardiac, genitalia

–

skin: neurocutaneous stigmata, injuries, cleanliness

–

central nervous system examination: abnormal posture/symmetry, wasting, tone and power, deep tendon reflexes, clonus, plantar

responses, cranial nerves

–

cardiovascular examination: abnormalities are associated with many dysmorphic syndromes – visual fu nction and ocular abnormalities

–

hearing: by questioning parents about hearing and language development and ch ecking if

neonatal hearing screening was done

–

patterns of mobility, dexterity, hand dominance, communication and social skills, general

behaviour

– cognition.

Many examination findings can be predicted from observation of functional skills and behaviour.

Many parental concerns about their child’s development are found to be variations of normal , in which case the parents should be

reassured. If in doubt, 45

observe the child’s progress over a period of time.

Table 4.2 Conditions that cause abnormal development and learning difficulty

Prenatal Genetic

Cerebrovascular

Metabolic

Teratogenic

Congenital infection Neurocutaneous syndromes Perinatal

Extreme prematurity Birth asphyxia

Metabolic

Postnatal

Infection

Anoxia

Trauma

Metabolic

Cerebrovascular

Nutritional deficiency Other

Unknown (about 25%): chronic illness, physical abuse, emotional neglect Chromosome/D NA disorders, e.g. Down syndrome, fragile X

syndrome, chromosome microdeletions or duplications

Cerebral dysgenesis, e.g. microcephaly, absent corpus callosum, hydrocephalus, neu ronal migration disorder

Stroke – haemorrhagic or ischaemic

Hypothyroidism, phenylketonuria

Alcohol and drug abuse

Rubella, cytomegalovirus, toxoplasmosis, HIV

Tuberous sclerosis, neurofibromatosis, Sturge–Weber, Ito syndrome

Intraventricular haemorrhage/periventricular leucomalacia Hypoxic-ischaemic encepha lopathy

Symptomatic hypoglycaemia, hyperbilirubinemia

Meningitis, encephalitis

Suffocation, near drowning, seizures

Head injury – accidental or non-accidental

Hypoglycaemia, inborn errors of metabolism.

Stroke

Maternal deficiency (breast fed), food intolerances, restrictions

Note: The site and severity of brain damage influence the clinical outcome, i.e . whether specific or global developmental delay, learning

and/or physical disability.

Abnormal development – key concepts

The terminology can be confusing, but:

•

delay – implies slow acquisition of all skills (global delay) or of one particu lar field or area of skill (specific delay), particularly in

relation to developmental problems in the 0–5-year age group

•

learning difficulty – used in relation to children of school age and may be cognitive , physical, both, or relate to specific functional skills

• disorder – maldevelopment of a skill.

The following are agreed definitions:

•

impairment – loss or abnormality of physiological function or anatomical structur e

•

disability – any restriction or lack of ability due to the impairment

•

disadvantage – this results from the disability, and 46 limits or prevents fulfilment of a normal r ole. It is

situationally specific; a child with a learning disability may, for example, be a good skier or enjoy sw imming.

The term ‘handicap’ is now discouraged as it can imply a person deserves pity. Difficulty and dis ability are often used interchangeably,

but difficulty is used particularly in an educational context. Impairment is now generally used instead of disability when describing

problems such as visual impairment or hearing impairment.

The pattern of abnormal development (global or specific) can be categorized as (Fig. 4.1):

• slow but steady

• plateau effect

•

showing regression

–

acute regression following acute brain injury with subsequent slow recovery but not to normal levels (partial recovery) or slow regression

as with neurodegenerative disorders.

The severity can be categorized as:

• mild

• moderate

Median

Normal range

Slow but steady

Acute insult

Plateau

Regression

•

it may be the presentation of a wide variety of underlying conditions (Table 4.2)

•

the site and severity of brain damage influences the clinical outcome, i.e. whether there w ill be specific or global developmental delay,

learning and/or physical disability

•

it may be genetic, with important implications for the family

•

there is a wide age band across which it can be normal to achieve a developmental skill

• limit ages denote beyond the normal range.

The choice of investigations to identify the cause is influen ced by the child’s age, the history and clinical findings (Table 4.3). In some

children, no cause can be identified even after extensive investigation.

1 2 3 4 5 6 Age (y)

Figure 4.1 Patterns of abnormal development. These may be slow but steady, plate au, regression. They may follow an acute injury.

Summary

Disordered development

• Incorporates global and specific delay or disorder, learning difficulty, impairment and disabi lity.

• Varies in pattern of progression and severity.

• Becomes more apparent with age.

Normal range

Median

Slow

development

1 2 3 4 5 6 7 8 9 10 Age (y)

Difference in development

between normal (median)

and a child developing slowly

Figure 4.2 For children with abnormal development, the gap between their abilities and what is normal widens with age.

Developmental delay

Global developmental delay (also called early developmental impairment) implies delay in acquisition of all skill fields (gross motor,

vision and fine motor, hearing and speech, language and cognition, social/emotional and behaviour). It usually becomes apparent in the

first 2 years of life. Global developmental delay is likely to be associated with cognitive difficulties, although these may only become

apparent several years later. The presence of global developmental delay should always gene rate investigation into a possible cause such

as those listed in Table 4.2. When children become older and the clinical picture is clearer, it is more ap propriate to describe the

individual difficulties such as learning disability, motor disorder and communication difficulty, rather than using the term glob al

developmental delay.

Specific developmental impairment is when one field of development or skill ar ea is more delayed than others. It may also be

developing in a disordered way.

Global developmental delay usually presents in the first 2 years of life.

• severe

• profound.

Other features of developmental delay are:

•

the gap between normal and abnormal development becomes greater with increa sing age, and therefore becomes more apparent over time

(Fig. 4.2)

Abnormal motor development

This may present as a delay in acquisition of motor skills, e.g. head control, rolling, sitting, standing, walking or as problems with

balance, an abnormal gait, asymmetry of hand use, involuntary movements 47 or rarely loss of motor skills. Conc ern about motor

Table 4.3 Investigations or assessment to consider for developmental delay

Cytogenetic Comparative genomic hybridization microarray or chromosome kary otype

4Metabolic

Infection Imaging

Neurophysiology

Histopathology/ histochemistry Other

Clinical genetics

Cognitive and behavioural assessment (clinical and educational psychologist) Therapy a ssessment – physiotherapy, occupational therapy,

speech and language therapy

Child psychiatry

Dietician

Nursery/school reports

Basic screening tests.

Fragile X analysis

DNA fluorescence in situ hybridization analysis, e.g. for chromosome 7, 15, and 22 delet ions; telomere screening;

whole-exome sequencing

Thyroid function tests, liver function tests, bone chemistry, urea and electrolytes, plasma amino acids

, blood film

Creatine kinase, blood lactate, very long-chain fatty acids, ammonia, blood gases, white cell (lysosomal) enzymes, urine amino and

organic acids, urine mucopolysaccharides (GAG), and oligosaccharide screen, urine reducin g substances, lead levels, urate, ferritin,

biotinidase, vitamin B6 and B12

Maternal amino acids for raised phenylalanine

Congenital infection screen for cytomegalovirus, etc.

Cranial ultrasound in newborn

CT and MRI brain scans

Skeletal survey, bone age

EEG – for seizures and can be diagnostic for specific neurological disorders and syndromes

Nerve conduction studies, electromyogram, visual evoked potentials, electroretinogram Nerve, skin and muscle biopsy

Hearing

Vision

development usually presents between 3 months– 2 years of age when acquisition of motor skills is occurring most rapidly. Examination

may reveal underlying abnormal motor signs.

Causes of abnormal motor development include:

• central motor deficit, e.g. cerebral palsy (CP)

• congenital myopathy/primary muscle disease

• spinal cord lesions, e.g. spina bifida

•

global developmental delay, as in many syndromes, or of unidentified cause.

As hand dominance is not acquired until 1–2 years of age or later, asymmetry of motor skills during the first year of life is always

abnormal and may suggest an underlying hemiplegia.

Late walking ( >18 months old) may be caused by 48 any of the afor ementioned causes but also needs to be differentiated from children

who display the normal locomotor variants of bottom-shuffling or commando crawlin g (see Ch. 3) where walking occurs later than with

crawlers, and from children with joint hypermobility who may also achieve walking later than average.

Concern about abnormal motor development needs assessment by a neurodevelopmental paediatrician and physiotherapist. Ongoing

physiotherapy input and subsequent involvement of an occupational therapist are also likely to be needed.

Cerebral palsy

CP is difficult to define, but the international group for Surveillance of Cerebral Palsy in Europe defines it as an umbrella term for a

permanent disorder of movement and/or posture and of motor function due to a non-progressive abnormality in the developing brai n.

The motor disorders of CP are often accompanied by disturbances of cognitio n, communication, vision, perception, sensation, behaviour,

seizure disorder and secondary musculoskeletal problems. Although the causative lesion is non- progressive and damage to the brain is

static, clinical manifestations emerge over time, reflecting the balance between normal and abnormal cerebral maturation. Motor

dysfunction is usually evident early, often from birth. If the brain injury occurs after the age of 2 years, it is diagnosed as acquired br ain

injury.

CP is the most common cause of motor impairment in children, affecting abou t 2 per 1000 live births.

Table 4.4 Gross motor function classification system (GMFCS)

Level I Level II Level III

Level IV

Level V

Walks without limitations

Walks with limitations

Walks using a handheld mobility device

Self-mobility with limitations; may use powered mobility

Transported in a manual wheelchair

Causes

About 80% of CP is antenatal in origin due to cerebrovascular haemorrhage or ischaem ia, cortical migration disorders or structural

maldevelopment of the brain during gestation. Some of these problems are linked to gene deletions. Other antenatal causes are genetic

syndromes and congenital infection.

Only about 10% of cases are thought to be due to hypoxic-ischaemic injury before or during delivery and this proportion has remained

relatively constant over the last decade. About 10% are postnatal in origin.

Preterm infants are especially vulnerable to brain damage from perive ntricular leukomalacia secondary to ischaemia and/or severe

intraventricular haemorrhage and venous infarction. The improved survival o f extremely preterm infants has been accompanied by an

increase in survivors with CP, although the number of such children is relatively small.

Postnatal causes are meningitis/encephalitis/ encephalopathy, head trauma from accidental or non-accidental injury, symptomatic

hypoglycaemia, hydrocephalus and hyperbilirubinemia.

MRI brain scans may assist in identifying the cause of the CP, in directing fur ther investigations and in supporting explanations to the

parents, but is not required to make the diagnosis.

Clinical presentation

Many children who develop CP will have been identified as being at risk in the neonatal period. Early features of CP are:

•

abnormal limb and/or trunk posture and tone in infancy with delayed motor milestones (Fig. 4.3); this may be accompan ied by slowing of

head growth

•

feeding difficulties, with oromotor incoordination, slow feeding, gagging and vomiting

• abnormal gait once walking is achieved

•

asymmetric hand function before 12 months of age.

In CP, primitive reflexes, which facilitate the emergence of normal patterns of movement and which need to disappear for motor

development to progress, may persist and become obligatory (see Ch. 3).

The diagnosis is made by clinical examination, with particular attention to assessment of posture and the pattern of tone in the limbs and

trunk, hand function and gait.

Note: See http://www.canchild.ca/en/measures/gmfcs.asp for further details.

CP is now categorized according to neurological features as:

•

spastic: bilateral, unilateral, not otherwise specified (90%)

• dyskinetic (6%)

• ataxic (4%)

• other.

The gross motor function level (functional ability) is described using the Gross Motor Function Classification System (Table 4.4).

In the past, the description was based on the parts of the body affected (hemiplegia, quadripleg ia, diplegia).

For children with high-risk factors for brain damage such as significant prematurity or those with difficulties around the time of birth, a

formal standardized assessment of general movements may identify at a very young age those at greater risk of developing CP. It is a

specialized assessment usually performed by a trained therapist or clinician.

Spastic cerebral palsy

In this type, there is damage to the upper motor neurone

(pyramidal or corticospinal tract) pathway. Limb tone is persistently increased (spas ticity) with associated brisk deep tendon reflexes and

extensor plantar responses. The tone in spasticity is velocity depende nt, so the faster the muscle is stretched the greater the resistance it

will have. This elicits a dynamic catch, which is the hallmark of spasticity. The increased limb tone may suddenly yield under pressure in

a ‘clasp knife’ fashion. Limb involvement is increasingly described as unilateral or bilateral to acknowledge asymmetrical signs.

Spasticity tends to present early and may even be seen in the neonatal period. Sometimes there is initial hypotonia, particularly of the

head and trunk. There are three main types of spastic CP:

•

unilateral ( hemiplegia) – unilateral involvement of the arm and leg. The arm is usually affected more than the leg, with the face spared.

Affected

children often present at 4–12 months of age with fisting of the affected hand, a flexed arm, a

pronated forearm, asymmetric reaching, hand

function or toe pointing when lifting the child.

Subsequently, a tiptoe walk (toe–heel gait) on the affected side may become evident. Aff ected limbs 49 may initially be flaccid and

hypotonic, but

Normal and abnormal motor development

Normal motor development

Median Limit

age age

3 months

– pushes up on arms

– holds head up

– sits with support

3 6

months

– holds head up

– rounded back

– unable to lift head – floppy trunk

– stiff arms, extended legs – arms flexed

and held back – stiff, crossed legs

– rounded back

– poor use of arms for play – stiff legs, pointed toes

– sits without support

6 9– arms free to reach monthsand grasp

– poor head control

– difficulty getting arms forward – arches back – stiff legs

– poor ability to lift

head and back

– will not take weight

on legs

– not interested in weight bearing – difficulty in pulling to stand – stiff legs, pointed toes

– pulls to stand

9 13 months

– holds arm or both arms stiffly and bent

– excessive

tiptoe gait

– independent standing

12 18or walking months

Abnormal motor development

– unable to lift head or push up on arms

– stiff extended legs – pushing back with head – constantly fisted hand and stiff leg on one side

– difficulty moving out of this position

– cannot crawl on hands and knees – may use only one side of body to move

– sits with weight to one side

– uses predominately one hand for play

– one leg may be stiff

Figure 4.3 Normal motor milestones and patterns of abnormal motor development . Cerebral palsy (hemiplegia or quadriplegia) is the

most common cause of developmental problems. (Adapted from Pathways Awareness Foundat ion, Chicago, IL.; see also

https://pathways.org/)

increased tone soon emerges as the predominant sign. The medical history may be norm al, with an unremarkable birth history and no

evidence of hypoxic-ischaemic encephalopathy giving rise to the possibility of a prenatal cause, which is often silent. In some children,

the condition is caused by neonatal stroke. More severe vascular insults may cause a hemianop ia (loss of half of visual field) of the same

side as the affected limbs

•

bilateral ( quadriplegia) – all four limbs are affected, often severely. The trunk is involved with a tend ency to opisthotonus (extensor

posturing), poor head control and low central tone (Fig. 4.4). This more severe form of CP is often associated with seizures,

microcephaly and moderate or severe intellectual impairment. There may have been a history of perinatal hypoxic-ischaemic

encephalopathy

•

bilateral ( diplegia) – all four limbs, but the legs are affected to a much greater degree than the arms, so that hand function may appear to

be relatively normal. Motor difficulties in the arms are most apparent with functional use of the hands . Walking is abnormal. Diplegia is

one of the patterns associated with preterm birth due to

periventricular brain damage. The MRI brain scan may show periventricular leukomala cia.

Dyskinetic cerebral palsy

Dyskinesia refers to movements that are involuntary,

uncontrolled, occasionally stereotyped and often more evident with active movement or stres s. Muscle tone is variable and primitive

motor reflex patterns predominate. May be described as:

•

chorea – irregular, sudden and brief non-repetitive movements

•

athetosis – slow writhing movements occurring more distally such as fanning of the fingers

•

dystonia – simultaneous contraction of agonist and antagonist muscles of the trunk and p roximal muscles often giving a twisting

appearance.

Intellect may be relatively unimpaired. Affected children often present with floppiness, p oor trunk control and delayed motor

development in infancy. Abnormal movements may only appear tow ards the end of the first year of life. The signs are due to damag e or

dysfunction in the basal ganglia or their associated pathways (extra-pyramidal). In the pa st, the most common cause was

hyperbilirubinemia (kernicterus) due to rhesus disease of the newborn but it is n ow hypoxic-ischaemic encephalopathy at term. The MRI

brain scan will often show bilateral changes predominantly in the basal ganglia.

Ataxic (hypotonic) cerebral palsy

Most are genetically determined. When due to acquired brain injury (cerebellum or its connections), th e signs occur on the same side as

the lesion but are usually relatively symmetrical. There is early trunk and limb hypotonia, poor balance and delayed motor development.

Incoordinate movements, intention tremor and an ataxic gait may be evident later.

The different types of CP are summarized in Fig. 4.5.

Management

Parents should be given details of the diagnosis as early as possible, but prognosis is difficult during infancy until the severity and pattern

of evolving signs and the child’s developmental progress have become cleare r over several months or years of life. Children with CP are

likely to have a wide range of associated medical, psychological and social problems, making it essential to adopt a multidisciplinary

approach to assessment and management, as described later in this chapter.

There are recently developed novel treatments for treating hypertoni a in CP such as botulinum toxin injections to muscles, selective

dorsal rhizotomy (a proportion of the nerve roots in the spinal cord are selectively cut to reduce spasticity), intrathecal baclofen (a

skeletal muscle relaxant) and deep brain stimulation of the basal ganglia.

Cerebral palsy

Figure 4.4 An infant with spastic bilateral (quadriplegia) cerebral palsy showing sciss oring of the legs from excessive adduction of the

hips, pronated forearms and ‘fisted’ hands.

Summary

Cerebral palsy

• Has many causes. Only about 10% follow

hypoxic-ischaemic encephalopathy.

• Usually presents in infancy with abnormal tone and posture, delayed motor milestones and

feeding difficulties.

• May be spastic, dyskinetic, ataxic, or a mixed

pattern. 51

Summary

Type of

cerebral palsy

Unilateral cerebral palsy (hemiplegia) Spastic or dystonic

Spastic or dystonic tone, one side of body affected (opposite to the side of the brain les ion)

Arm often more affected than leg

May have visual field defect on side of hemiplegia Risk of learning difficulties and seizu res

Often GMFCS level 1 and 2

Bilateral spastic cerebral palsy (diplegia)

Damage to the

periventricular areas of developing brain often associated with prematurity. Young chil d – pattern with walking on their toes with

scissoring of the legs.

Leg motor fibres from the homunculus are closest to the ventricles, so legs more affected than arms.

Predominantly affects legs. Arms may be subtly affected (supination, fine motor contro l).

Spasticity is main motor type. Usually no feeding or communication difficulties and good

cognition.

Often associated with squints. Frequently GMFCS level 1–3

Older child – crouch gait pattern is typical when the child gets heavier and can’t rema in on their toes.

Bilateral spastic cerebral palsy (quadriplegia, 4 limb pattern)

Extensive damage to the Both arm and leg involvement – predominantly spastic but peri ventricular areas of the dystonia often also

present.

developing brain, including Associated with learning difficulty, feeding difficulties, cort ex. problems with speech, vision and hearing.

Seizures common. At increased risk of hip subluxation and dislocation and scoliosis.

Usually dependent on others for activities of daily living Powered mobility a common re quirement. Often GMFCS levels 4 and 5.

Dyskinetic

cerebral palsy (dystonia,

athetosis,

chorea)

Patterns of cerebral palsy

Aetiology Clinical features

Often due to perinatal middle cerebral artery infarct

Perinatal asphyxia – Typical dystonicparticularly affecting pattern with open

the basal ganglia. Also

mouth posture andkernicterus, but this is internal rotationnow

rare. and extension of

the arms.

Mixture of motor patterns including dystonia, athetosis and chorea. Cognition may be preserved but feeding difficulties are common.

Risk of hip deformity and scoliosis. Many are dependent on others for activities of daily living due to their severe movement difficulties

even if cognitively normal. Usually GMFCS level 4–5.

Figure 4.5 The different types of cerebral palsy.

Disordered speech and

language development

A child may have a deficit in either receptive or expressive speech and language, or bo th. The deficit may be a delay or a disorder.

Speech and language delay may be due to:

• hearing loss

• global developmental delay

•

difficulty in speech production from an

anatomical deficit, e.g. cleft palate, or oromotor incoordination, e.g. CP

•

environmental deprivation/lack of opportunity for social interaction

• normal variant/familial pattern.

Speech and language disorders include disorders of:

• language comprehension

•

language expression – inability or difficulty in producing speech whilst knowing what is needing to be said

•

intelligibility and speech production such as stammering (dysfluency), dysarthria or ver bal dyspraxia

•

pragmatics (difference between sentence meaning and speaker’s meaning), co nstruction of sentences, semantics, grammar

•

social/communication skills (autistic spectrum disorder).

Speech and language problems are usually first suspected by parents or primary healthcare professionals. A hearing test and assessment

by a speech and

language therapist are the initial steps. In early years,

there is considerable overlap between language and

cognitive (intellectual) development. Involvement of

a neurodevelopmental paediatrician and paediatric

audiological physician is indicated. Speech and language therapy may be provided o n a continuous, burst

or review basis. The speech therapist may promote

alternative methods of communication such as signing

(with Makaton or the Picture Exchange Communication System). Special schooling (usually language units

attached to a mainstream primary school) is available

but only appropriate for a very few. Many children with

early speech and language problems will need learning

support at school entry.

There are many tests of language development.

These include:

•

the Symbolic Toy test, which assesses very early language development

•

the Reynell test for receptive and expressive language, used for preschool children.

Abnormal development of

social/communication skills (autism spectrum disorders)

Children who fail to acquire normal social and communication skills may have an autism spectrum disorder. The prevalence of autism

spectrum disorder is 3–6 per 1000 live births. The worldwide prevalence is estimated to be 7.6 per 1000 persons. It is more common in

boys. Presentation is usually between 2–4 years of age when language and social skills norm ally rapidly expand. The child presents with

a triad of difficulties and associated comorbidities (Box 4.1).

Where only some of the behaviours are present, the child may be described as having a utistic features but not the full spectrum.

Asperger syndrome refers to a child with the social impairments of an autism spectr um disorder but at the milder end, and near-normal

speech development. Such children still have major difficulties with the giveand-take of ordinary social encounters, a stilted way

Box 4.1 Features of autism spectrum disorders

Impaired social interaction:

• does not seek comfort, share pleasure, form

close friendships

• prefers own company, no interest or ability in interacting with peers (play or emo tions)

• gaze avoidance

• lack of joint attention

• socially and emotionally inappropriate

behaviour

• does not appreciate that others have thoughts and feelings

• lack of appreciation of social cues.

Speech and language disorder:

• delayed development, may be severe

• limited use of gestures and facial expression

• formal pedantic language, monotonous voice

• impaired comprehension with over-literal

interpretation of speech

• echoes questions, repeats instructions, refers to

self as ‘you’

• can have superficially good expressive speech. Imposition of routines with ritualistic

and repetitive behaviour:

• on self and others, with violent temper

tantrums if disrupted

• unusual stereotypical movements such as hand

flapping and tiptoe gait

• concrete play

• poverty of imagination in play and general

activities

• peculiar interests and repetitive adherence

• restriction in behaviour repertoire.

Comorbidities:

• general learning and attention difficulties

(about two-thirds)

• seizures (about one-quarter, often not until

adolescence)

• affective disorders – anxiety, sleep disturbance

• mental health disorders – attention deficit

hyperactivity disorder. 53 of speaking and narrow, unusual and often intense interests which they do not share with others, and are often

clumsy. In reality, autism spectrum disorders are a continuum of behavioural states ranging from the severe form of autism with or

without severe learning difficulties to the milder Asperger syndrome, or to autistic features o ccurring secondary to other clinical

problems.

Autism spectrum disorders are diagnosed by assessing for s pecific features and seeing if they meet a specific threshold acc ording to the

Diagnostic and Statistical manual in the US (DSM5) or International Classification of Diseases. For DSM5 diagno ses, terminologies such

as Asperger syndrome and autistic disorder are no longer used, and these are repl aced by the term autism spectrum disorder with a

description of the particular strengths and difficulties of the child.

Autism is diagnosed by observation of behaviour, including the use of form al standardized tests (Autism Diagnostic Interview, Autism

Diagnostic Observation Schedule, and Diagnostic Interview for Social and Communication Dis orders). It may arise as the result of

different organic processes but in many cases no specific cause can be identified. Ther e is probably multiple aetiology with a genetic

component in at least some children. The condition is not the result of emotional trauma or deviant parenting. There is no evidence for a

suggested link with the measles, mumps and rubella vaccine.

Management

The condition has lifelong consequences of varying degree for the child’s social/communication and learning skills. Parents need a great

deal of support. They often feel initial guilt that they did not recognize the problem earlier. A wide range of interventions have been

promoted over the last 10 years but with little evidence except for applied behavioural analysis, a beh aviour modification approach that

helps to reduce ritualistic behaviour, develop language, social skills and play, and to generalize use of all these skills. It is currently the

most widely accepted treatment approach but requires 25–30 hours of individual therapy each week, so is costly and time consuming. An

appropriate educational placement needs to be sought. Some schools incorporate an appli ed behavioural analysis approach into their

teaching methods. Fewer than 10% of children with autism are able to function independen tly as adults.

Autism spectrum disorder:

• Presents at 2–4 years of age with impaired social interaction, speech and language disord er and imposition of routines with ritualistic

and repetitive behaviour.

• Usually managed by behaviour 54 modification such as applied behavioural analys is.

Slow acquisition of cognitive skills/general learning difficulty

The term ‘learning difficulty or disability’ (reflecting cognitive learning difficulties) is now preferred to ‘mental retardation’ o r ‘mental

handicap’. Medical and educational classification of intelligence quotients (IQ s) can be different, with medical models having lower

ranges. The educational levels briefed in the following section are useful for general us e.

Children with borderline and mild (IQ 70–80) learning difficulties are usually supported by addi tional helpers (learning support

assistants) in mainstream schools, whereas children with moderate (IQ 50–70), severe (IQ 35–50), and profound (IQ < 35) learning

difficulties are likely to need the resources of special schools.

Severe or profound learning difficulties are usually apparent from infancy as marked glob al developmental delay, whereas moderate

learning difficulties emerge only as delay in speech and language becomes apparent. Mild learning difficulties may only become

apparent when the child starts school or much later.

A child with profound learning difficulties will have no significant language and be completel y dependent for all of his/her needs. A

child with severe learning difficulties is likely to be able to learn minimal selfcare skills and acquire simple spe ech and language. Both

will need high or total supervision and support throughout life.

The prevalence of severe learning difficulty is about 3–4 per 1000 children. Most have an organic cause irrespective of social class, in

contrast to moderate learning difficulty (30 per 1000 children) in which children of parents from lower socioeconom ic classes are over-

represented.

Common causes of developmental delay and learning difficulty are listed in Table 4.2.

Specific learning difficulty

Specific learning difficulty implies that the skill described is more delayed th an would be expected for the child’s level of cognitive

ability. Some examples are described below.

Developmental coordination disorder or dyspraxia

Developmental coordination disorder (developmental dyspraxia) is a disorder of motor planning a nd/or execution with no significant

findings on standard neurological examinations. It is a disorder of the higher cortical processes and there may be associated problems of

perception (how the child interprets what he/she sees and hears), use of language and putting thought s together.

The difficulties may impact on educational progress and self-esteem and suggest the child has greater academic difficulties than may be

the case. Features include problems with:

•

handwriting, which is typically awkward, messy, slow, irregular and poorly s paced

• dressing (buttons, laces, clothes)

• cutting up food

• poorly established laterality

• copying and drawing

•

messy eating from difficulty in coordinating biting, chewing, and swallowing (oromotor dys praxia). Dribbling of saliva is common.

Assessment and advice are primarily from an occupational therapist and when necessary a speech and language therapist (oromotor

skills/speech). A visual assessment may also be helpful. Dyspraxia in its milder form often goes undetected during the first few years of

life as the child achieves gross motor milestones at the normal times. With therapy (emph asis on sensory integration, sequencing,

executive planning, and where needed speech/language therapy) and maturity, the condition should improve. Verbal dyspraxia is where

there are more specific difficulties related to speech production in the absence of muscle or nerve damage. It is considered part of

developmental dyspraxia.

Dyslexia

Dyslexia is a disorder of reading skills disproportionate to the child’s IQ. The term is oft en used when the child’s reading age is more

than 2 years behind his/her chronological age. Assessment needs to include vision and hearing and involves an educational psychologist.

Dyscalculia, dysgraphia

These are disorders in the development of calculation or writing skills.

Disorder of executive functions

Executive functions are a collection of cognitive processes that are responsible for activities such as planning and organization self-

regulation, cognitive flexibility, problem solving and abstract reasoning. They are very necessary to function and interact within one’s

social environment. Deficits in executive function can occur as a consequence of acquired brain injury such as those following hypoxia,

infection, stroke or trauma. Executive dysfunction may manifest as poor concentration, forge tfulness, volatile mood, overeating and poor

social skills.

Associated comorbidities of specific learning disorders

These are:

• attention deficit disorder

• hyperactivity

•

sensory processing disorder (poor sensory integration skills of touch, balance)

•

depression, conduct disorders, obsessive compulsive disorder.

Management of specific

learning disorders

Assessment may include vision and hearing and assessment by an occupational therapist, phys iotherapist, speech and language therapist

and educational psychologist. Comorbidities need to be identified. Treatment is aimed at imp roving skill acquisition, with educational

and information technology support as appropriate.

Problems with concentration

and attention

Attention deficit hyperactivity disorder

Young children are characteristically lively, some more than others, by virtue of their immaturity. When their level of motor activity

exceeds that regarded as normal, they may be termed ‘hyperactive’ by their parents. This is a judgement that depends upon the parents’

standards and expectations. The term can thus incorrectly be used as a complaint about a child who is normally active in overall terms

but who can be cheeky and boisterous at times. Such a child is not hyperactive, but the parents need advice about how to handle

unwanted behaviour.

In the true hyperkinetic disorder or attention deficit hyperactivity disorder (ADHD ), the child is undoubtedly overactive in most

situations and has impaired concentration with a short attention span or distractibility. Dif ferences in diagnostic criteria and threshold

mean that prevalence rates among prepubertal schoolchildren are variously estimated as between 10–50 per 1000 children, with boys

exceeding girls three-fold. There is a powerful genetic predisposition and the underlying problem is a dysfunction of brain neuron

circuits that rely on dopamine as a neurotransmitter and which control self-monitoring and s elf-regulation.

Affected children are unable to sustain attention or persist with tasks. They can not control their impulses – they manifest disorganized,

poorly regulated and excessive activity; have difficulty with taking turns or sharing; are socially disinhibited; and butt into other people’s

conversations and play. Their inattention and hyperactivity are worst in familiar or uninteresting situations. They also cannot regulate

their activity according to the situation – they are fidgety; have excessive move ments inappropriate to task completion; lose possessions;

and are generally disorganized. Typically, they have short tempers and form poor relationships with other children, who find them

exasperating.

The children do poorly in school and lose self-esteem. They may drift into antisocial activities for a variety of reasons, partly because

their behaviour drives parents, teachers and peers to use coercion and punishment, which a re ineffectual or breed resentment.

In addition to child psychiatric or paediatric evaluation, the child will usually need to be assessed by an educational psycholog ist.

First-line management in preschool children and school-aged children with mild-to-moderately severe 55 disorder is the active

promotion of behavioural and educational progress by offering specific advice to parents and teachers to build concentration skills,

encourage quiet self-occupation, increase self-esteem and how to moderate extreme behaviour . Behavioural interventions similar to those

embedded in parenting programmes are helpful. These involve having clear rules and expectations and consistent use of rewards to

encourage adherence and where appropriate,

consequences to discourage unacceptable behaviour.

For those children in whom this is insufficient, hyperactivity responds symptomatically to several types of medication, although this is

usually reserved for children older than 6 years of age. Stimulants, such as methylphenidate or dexampheta mine, and non-stimulants,

such as atomoxetine, reduce excessive motor activity and improve attention on task and focused behaviour. The usual approach is not to

put the child on medication until behavioural and educational progress is active ly promoted by the specific measures mentioned earlier.

However, in severe cases with high degrees of impairment, simultaneous psychosocial and med ical treatment may be required. It may be

necessary to continue medication for several years, sometimes into adulthood. Yearly of f-medication trial is recommended to evaluate

the need for continuing treatment. Specialist supervision is mandatory. Close liaison with the schoo l is required throughout the years of

treatment.

The role of diet in the cause and management of hyperactivity is controversial. Current evidence indicates that the sort of diet which aims

blindly to reduce sugar, artificial additives or colourants has no effect. A few children d isplay an idiosyncratic behavioural reaction such

as excitability or irritability to particular foods. If this seems likely, trying the ch ild on an exclusion of that particular food may be useful.

In general, food and drinks with caffeine are not advised. Overzealous d ietary exclusion can lead to malnutrition, especially in a child on

stimulant medication that may already have the side-effect of appetite reduction.

Summary

Attention deficit hyperactivity disorder

• Affects males more than females.

• Clinical features: cannot sustain attention,

excessively active, socially disinhibited, easily distracted and impulsive, poor at relationships, prone to temper tantrums, poor school

performance.

• Management: educational psychologist assessment, behavioural programmes in school, parenting intervention, medication if necessary.

loss may be the underlying cause without parents or other carers realiz ing. Unilateral hearing loss can cause hearing difficulties when the

good ear has an acute ear infection or glue ear. It can also cause difficulty with localizing sounds.

Hearing loss may be:

•

sensorineural – caused by a lesion in the cochlea or auditory nerve and is usually p resent at birth

•

conductive – from abnormalities of the ear canal or the middle ear, most often from otitis media with effusion.

The causes, natural history and management of hearing loss are listed in Table 4.5.

Hearing tests are described in Chapter 3. The typical audiogram in sensorineural and conductive hearing loss is show n in Fig. 4.6.

Sensorineural hearing loss

This type of hearing loss is uncommon. In England the incidence of permanent child hood hearing impairment (PCHI) is 0.9 per 1000 live

births, with unilateral PCHI adding a further 0.7 per 1000 live births and another 0.7 per 1000 children acquire permane nt hearing loss by

the age of 10 years. It is usually present at birth or develops in the first few mon ths of life. It is irreversible and can be of any severity,

including profound.

The child with severe bilateral sensorineural hearing impairment will need early a mplification with hearing aids for optimal speech and

language development. Hearing aid use requires close supervision, beginning in the home together with the parents and co ntinuing into

school. Children often resist wearing hearing aids because backgrou nd noise can be amplified unpleasantly. Children with microtia

(congenital underdeveloped external ear) and meatal atresia can be helped with b one conduction hearing aids. Cochlear implants may be

required where hearing aids give insufficient amplification (Fig. 4 .7).

Many children with moderate hearing impairment can be educated within the mainstream school system or in partial hearing units

attached to mainstream schools. Children with hearing impairment should be placed in the front of the classroom so that they can readily

see the teacher. Gesture, visual context and lip movement will also allow children to deve lop language concepts. Speech may be delayed,

but with appropriate therapy can be of good quality. Modified and simplified signing such as Makaton can be helpful for children who

are both hearing-impaired and learning-disabled. Specialist teaching and support service in preschool and school years is provided by

peripatetic teachers for children with hearing impairment. Those with profound hearing impairment ma y need to attend a school for

children who are deaf.

Hearing impairment

Any concern about hearing impairment should be taken seriously. Any child with delayed language or 56 spe ech, learning difficulties or

behavioural problems should have his/her hearing tested, as a mild hearing

Conductive hearing loss

Conductive hearing loss from middle ear disease is usually mild or moderate but may be severe. It is much more common than

sensorineural hearing loss. In association with upper respiratory tract infections,

120 250

-20

Normal

Frequency (Hz)

500 1000 2000 4000 8000

Severity of hearing loss

0 Threshold sound

Mild 20–39 dB HL

Moderate 40–69 dB HL

80 Severe 70–94 dB HL 100

Bone conduction Right ear

Left ear

Frequency range of speech sounds Profound >95 dB HL

Profound bilateral sensorineural hearing loss

–20

–10

100

110

120

125 250 500 1000 2000 4000 8000

Bilateral conductive b

hearing loss –20

–10

100

110

120

125 250 500

1000 2000 4000 8000

High-frequency sensorineural d

–20

hearing loss

–10

100

110

120

125 250 500 1000 2000 4000 8000

Figure 4.6 (a) Audiogram showing normal hearing and the loudness of normal sp eech (blue area). The consonants are high-frequency

sounds, whereas the vowels are low-frequency sounds; (b) audiogram showing bilateral conductive hearing loss. There is a 30-dB to 40-

dB hearing loss in both the right and left ears; (c) audiogram showing bilateral p rofound sensorineural hearing loss; and (d) audiogram

showing bilateral high-frequency sensorineural hearing loss.

Figure 4.7 Cochlear implant. There is a microphone to detect sound, a speech pro cessor and a transmitter and receiver/stimulator. They

convert speech into electric impulses, which are conveyed to the auditory nerve, bypassing the ear. It provides a deaf person with a

representation of sounds.

many children have episodes of hearing loss, which are usually self-limiting. In some cases of c hronic otitis media with effusion, the

hearing loss may last many months or years. In most affected childr en, there are no identifiable risk factors present but children with

Down syndrome, cleft palate and atopy are particularly prone to hearing loss from mid dle ear disease.

Impedance audiometry tests, which measure the air pressure within the middle ear and the compliance of the tympanic membrane,

determine if the middle ear is functioning normally. If the condition does not improv e spontaneously, medical treatment (decongestant or

a long course of antibiotics or treatment of nasal allergy) can be given. If that fails, surgery is considered, with insertion of

tympanostomy tubes (grommets) with or without the removal of adenoids. Hearing aids are used in cases where problems recur after

surgery.

The decision whether to intervene surgically should be based on the degree of functional dis ability rather than on absolute hearing loss.

Any child with poor or delayed speech

or language must have his/her hearing 57 assessed.

Table 4.5 Causes and management of hearing loss Causes

Sensorineural

Genetic (the majority) Antenatal and perinatal:

•

• congenital infection

preterm

hypoxic-ischaemic encephalopathy hyperbilirubinemia

Hearing loss Natural

history

Management

Postnatal:

• meningitis/encephalitis

• head injury

• drugs, e.g. aminoglycosides, furosemide

(frusemide)

• neurodegenerative disorders

May be profound (>95-dB hearing loss) Does not improve and may progress

Conductive

Otitis media with effusion (glue ear) Eustachian tube dysfunction:

• Down syndrome

• cleft palate

• Pierre Robin sequence

• midfacial hypoplasia

Wax (only rarely a cause of hearing loss)

Maximum of 60-dB hearing loss Intermittent or resolves

Amplification or cochlear implant if necessary Conservative, amplification or surgery

Summary

Hearing loss Sensorineural hearing loss:

• is usually present at birth and is irreversible

• early amplification with hearing aids or cochlear

implants is needed for severe hearing impairment for optimal speech and language dev elopment

• assistance is required from peripatetic teachers for children with moderate/severe hearing impairm ent.

Conductive hearing loss:

• is usually due to middle ear disease, often otitis media with effusion

• is usually mild or moderate and transient

• consider insertion of tympanostomy tubes (grommets) with or without the removal of adenoids if it does not resolve.

•

concerns about poor visual responses, including poor eye contact

• roving eye movements

• nystagmus

• squint.

Any infant presenting with an ocular abnormality needs prompt referral to an ophthalmolog ist as some underlying conditions are sight

threatening, and retinoblastoma is life threatening.

Nystagmus

This is a repetitive, involuntary, rhythmical eye movement. It is usually horizontal but can be vertical. It may be found in association

with a structural eye problem (sensory defect nystagmus), but can also be a consequence of a problem at the cortica l level. Nystagmus

which is a manifestation of an eye problem, may improve over time. If no structural eye (or brain) problem is found, a diagnosis of

idiopathic nystagmus is made.

Abnormalities of vision and the ocular system

Normal visual development and tests of vision are described in Chapter 3.

Visual impairment may present in an infant or young child with:

•

obvious ocular malformation (e.g. anophthalmia)

–

absent red reflex or white reflex (leukocoria), which may be due to opacification o f intraocular structures, corneal abnormalities or

58 intraocular tumour (retinoblastoma)

• not smiling responsively by 6 weeks’ post-term

Squint (strabismus)

In this common condition there is misalignment of the visual axes. Squint should be assessed in order for the underlying cause to be

identified and treated where possible. There may be a family history. Transient misalignment is common up to 3 months of age. Marked

epicanthic folds may give an appearance of a squint. Any inf ant with a squint should have red reflexes checked. Squints persisting

beyond 3 months of age should be referred for a specialist ophthalmological opinion. The most common underlying cause is refractive

error, but cataracts, retinoblastoma, and other intraocular causes must be excluded.

Squints are commonly divided into:

•

concomitant (non-paralytic, common) – usually due to a refractive error in one or both ey es. Correction of the refractive error with

glasses often corrects the squint. The squinting eye most often turns inwards (conver gent), but there can be outward (divergent) or,

rarely, vertical deviation

•

paralytic (rare) – varies with gaze direction due to paralysis of the motor ne rves. This can be sinister because of the possibility of an

underlying space-occupying lesion such as a brain tumour.

Corneal light reflex test

Non-specialists can use this test to detect squints (Fig. 4.8). A pen torch is held at a distance to produce reflections on both corn eas

simultaneously. If the light reflection does not appear in the same position in the two pupils, a squint is present. However, a minor squint

may be difficult to detect.

Cover test

The child is encouraged to look at a toy/light. If the fixing eye is cove red, the squinting eye will move to take up fixation. ( Fig. 4.9). The

test should be performed with near (33 cm) and distant (at least 6 m) objects, a s certain squints are present only at one distance. These

tests are difficult to perform and reliable results are best obt ained by an orthoptist or ophthalmologist.

Refractive errors

Hypermetropia (long sight)

This is the most common refractive error in young children. Mild hypermetropia is common in early childhood and is overcome through

the process of accommodation – changing the shape of the lens in the eye. Hy permetropia can be corrected with convex (plus) lenses.

These make the eye look bigger. Mild hypermetropia may not need spectacle correcti on.

Myopia (short sight)

This is relatively uncommon in young children, presenting usually in adolescence. How ever, in children born preterm it is the most

common refractive error and may present at a younger age. Myopia can be corrected with concave (m inus) lenses. These make the eye

look smaller.

Astigmatism (abnormal corneal

curvature)

Minor degrees of astigmatism are common and may not cause problems or require correction. Unilateral astigmatism can result in

amblyopia.

Amblyopia

This is a potentially permanent reduction of visual acuity in an eye that has not received a clear image. It affects 2–3% o f children. It is

usually unilateral but can be bilateral. The most common causes of amblyopia are squint, refractive errors and obstruction to the visual

pathway, e.g. cataract. Amblyopia may occur in squint when the brain is unable to combine the markedly differing images from each eye

– the vision from the squinting eye is ‘switched off’ to avoid double visi on. Treatment entails tackling the underlying condition, together

with patching of the ‘good’ eye for specific periods of the day to force the ‘lazy’ eye to work, and therefore develop better vision. Early

treatment is essential, as after 7 years of age improvement is unlikely. Considerable encouragement and support should to be given often

to both the child and parents, as young children usually dislike having their bette r eye patched. Amblyopia may be asymptomatic, and is

the main target condition for preschool vision screening in the UK.

Severe visual impairment

This affects 1 in 1000 live births in the UK, but is higher in developing countries. Th e main causes are listed in

Squints

Figure 4.8 Corneal light reflex (reflection) test to detect a squint. The reflectio n is in a different position in the two eyes because of a

small convergent squint of the right eye.

Figure 4.9 The cover test is used to identify a

squint. If the fixing eye is covered, the squinting eye moves to take up fixation. This diagra m shows a left

59convergent squint.

Box 4.2 Causes of visual impairment

Genetic

Cataract

Albinism

Retinal dystrophy

Retinoblastoma

Antenatal and perinatal

Congenital infection

Retinopathy of prematurity

Hypoxic-ischaemic

encephalopathy

Cerebral abnormality/damage Optic nerve hypoplasia

Postnatal

Trauma

Infection

Juvenile idiopathic arthritis

Box 4.2 . Recent epidemiological studies suggest that in the UK up to 50% of children have cer ebral pathology as the underlying cause;

about one-third of cases are hereditary, affecting eye structures. In developing countries , acquired causes such as infection are more

prevalent.

Investigations may include an electroretinogram or visual evoked potentials. When visual impair ment is of cortical origin, resulting from

cerebral damage, examination of the eye, including the pupillary responses, may be norm al.

Although few causes of severe visual impairment can be cured, early detection allows certain elements to be treated and timely advice

can be given on supporting developmental progress. In the UK, this advice is usually provide d by peripatetic teachers for children with

visual impairment, who work with families from the time of diagnosis, irrespective of the child’s age. Input from a paediatrician and

other members of the child development team are also required. Partially sighted children may benefit from provision of low vision aids,

high-powered magnifiers and small telescopic devices and computers. Altho ugh many severely visually impaired children have a visual

disability alone, at least half have additional neurodevelopmental problems.

Summary

Regarding vision

• Visual impairment and ocular abnormalities including refractive errors are more commo n in children with neurodevelopmental

problems.

• An absent red reflex or white reflex or a squint persisting after 3 months of age – refer to a n ophthalmological opinion.

• Abnormal eye movements in an infant, absence of responsive smiling, or parenta l concern about vision at any age – consider visual

impairment and refer to an ophthalmological opinion.

• Testing for squints – corneal light reflex (reflection) test for the non-specialist, cover test for the specialist.

• Amblyopia may be asymptomatic; treatment often includes patching of the ‘goo d’ eye for 60 short periods each day.

Multidisciplinary child

development services

Although children with a wide range of conditions have additional needs, the term ‘special needs’ is usually used for children with

developmental problems and disabilities. In order to optimize the child’s assessme nt and care on an ongoing basis, child development

services in the UK are based on geographic areas and are secondary care services.

A child development service:

•

is multidisciplinary with predominantly health professionals (paediatrician, physio therapist, occupational therapist, speech and language

therapist, clinical psychologist, specialist health visitor, dietician) in the team but often also includes a socia l worker (Fig. 4.10)

•

is multiagency ( Fig. 4.11) and may include health, social services, education, volunteers, volunta ry agencies, parent support groups

•

aims to provide a coordinated service with good inter-agency liaison to meet the fu nctional needs of the child and optimize his/her care

•

may provide multidisciplinary support and monitor children up to school-leaving age (16–19 y ears)

•

maintains a register of children with disabilities and special needs

•

has emphasis on children’s needs within the community (home, nursery, scho ol), regardless of its location.

Child development services in the UK now usually use the Common Assessment Framework to allow multidisciplinary sharing of

information. The emphasis is on:

• diagnosis

•

assessment of functional skills: mobility, hand function, vision, hearing, communi cation, behaviour, social/self-care skills and learning

• provision of therapy

• regular review

•

a coordinated approach to care (multidisciplinary, multiagency).

Many children with special needs have medical problems which require investigation, treatment, and review. Good inter- professional

communication is vital for well-coordinated care. This is assisted by all profess ionals keeping entries in the child’s personal child hea lth

record up to date.

Hearing

Conductive or sensorineural hearing impairment

Gastrointestinal

Gastro-oesophageal reflux Oromotor incoordination Aspiration of food or saliva Cons tipation

Respiratory

Respiratory infections Aspiration pneumonia Chronic lung disease Sleep apnoea

Vision

Squint

Impaired visual acuity Visual field deficits

Orthopaedic

Hip subluxation/dislocation Fixed joint contractures

Dynamic muscle contractures Painful muscle spasm

Spinal deformity

Osteoporosis/fractures

Specialist health visitor

Helps coordinate multidisciplinary and multi-agency care

Advice on development of play or local authority schemes

e.g. Portage

Dietician

Advice on feeding and nutrition

Urogenital

Urinary tract infection

Delay in establishing continence Unstable bladder

Vesico-ureteric reflux

Neuropathic bowel and bladder

Common medical problems Neurological

Epilepsy

Microcephaly/hydrocephalus Cerebral palsy

Nutrition

Poor weight gain Faltering growth

Behaviour

Organic or reactive Sibling behaviour Parental distress

Speech and language therapist Feeding

Language development

Speech development

Augmentative and alternative communication (ACC)

aids e.g. Makaton sign

language, Bliss symbol boards, voice synthesisers

Social worker/Social services Advice on benefits: disability, mobility, housing, respite care, voluntary support agencies Day nursery

placements

Advocate for child and family Register of children with

special needs

Child Development Services Occupational therapist

Eye–hand coordination

Activities of daily living (ADL) – feeding, washing, toileting, dressing, writing

Seating

Housing adaptations

Psychologist (clinical and educational)

Cognitive testing

Behaviour management Educational advice

Paediatrician

Assessment, investigation and diagnosis Continuing medical management Coordination o f input from

therapists and other agencies – health, social services, education

Physiotherapist

Balance and mobility

Postural maintenance

Prevention of joint contractures, spinal deformity

Mobility aids, orthoses

Figure 4.10 Common medical conditions and the many professionals in the child develo pment services involved in the care of children

with developmental problems.

Health services:

Child development team School health services Adult disability team

Social services

The child with special needs

Education authority Voluntary agencies

Figure 4.11 Children with special needs are supported by the integrated inp uts of health and social services, local education authorities

and voluntary agencies.

In addition to locally organized child development services, specialist neurodisability services are required for:

• rehabilitation following acquired brain injury

• surgery for cerebral palsy, scoliosis

• gait analysis

•

spasticity management, including botulinum toxin injections to muscles

•

epilepsy unresponsive to two or more

anticonvulsants or where there is severe cognitive and behavioural regression relat ed to epilepsy

•

complex communication disorders – diagnosis and therapeutic intervention

•

mixed complex learning problems, often with

neuropsychiatric comorbid symptoms

• provision of communication aids (Fig. 4.12) 61

• sensory impairments (e.g. cochlear implants)

Figure 4.12 An example of a touchscreen speaking communication aid to assist children w ho may have speaking and movement

difficulties.

•

children with severe visual and hearing impairment

•

specialized seating/wheelchairs and orthoses (Fig. 4.13)

•

management of movement disorders (e.g. continuous infusion of intrathecal b aclofen, selective dorsal rhizotomy and deep brain

stimulation to basal ganglia).

Needs are likely to change over time, with key stages being at transition to school and ad ult services. A care plan should be developed at

each stage; it may include education and social care as well as health. Care plans should be shared with the child and family and then

regularly reviewed. Involvement with specialist services may be of variable frequency throughout childhood. Collaboration across

services is vital in promoting a service tailored around the child and family.

Summary

Children with developmental problems and disabilities

• Are looked after by local multidisciplinary child

development services.

• Often have complex medical needs.

• Need regular review, as needs change with

time, as will the child’s ability to participate in it.

• Require coordination of care between the

family and the many professionals involved, as

well as close liaison with education and social

services.

Education

Children with special educational needs should receive 62 educational inpu t according to their requirements,

including integration into mainstream schooling

Figure 4.13 (a) A boy with spastic cerebral palsy is able to walk with the help of a f rame; and (b) a motorized wheelchair that enables

this young person with cerebral palsy to be mobile.

whenever possible. However, there are special needs’ schools for childre n with more significant learning and/or physical disabilities.

There are also specialist educational placements for children with certain conditions such as severe vis ual or hearing impairment or

autism spectrum disorders. These specialist educational settings have access to a higher level of therapies (physiotherapy, occupational

therapy and speech and language therapy) and specialist teaching than are available through a mainstream educational placement.

Assessment and support for behavioural and learning needs may come from an educational or clinical psyc hologist.

Transition of care to

adult services

In the UK, adult disability services are, in general, still poorly developed by comparis on with those provided for children. Young adults

with severe learning and physical disabilities are supported by Adult Learning Disability Teams, but there is o nly limited national

provision for those with mild or moderate learning disabilities or with a predominantly p hysical disability. Major problems for young

adults with disabilities include social issues around care, housing, mobility, finance, leisure, employment, and genetic and sexual

counselling. Health information must be properly transferred from child to a dult health services if reinvestigation of already well-

clarified conditions is to be avoided. ity, communication and emotional expression are h elping enable people with disability to better

achieve their full potential, rather than being held back by their disability. Howe ver, this requires skilled assistance and adequate

resources. Prominent public figures who function effectively despite disabilities help to make the public appreciate what can be achieved

and serve as an inspiration to those with disabilities. The World Health Organization stresses the impor tant outcomes of activity and

participation. Any health interventions for people with disability either on an individua l level or in society as a whole should aim to also

improve these outcomes.

The rights of disabled children

Irrespective of their disability, the aspirations and rights of children, as affirmed by the United Nations C onvention on the Rights of the

Child, need to be respected. Technological advances to improve mobil

Acknowledgements

We would like to acknowledge contributors to this chapter in previous editions, whose work we have drawn on: Angu s Nicoll (1st

Edition), Diane Smyth (2nd, 3rd, 4th Edition), Neil Wimalasundera (4th Edition) .

Further reading

Hall D, Elliman D: Health for All Children, ed 4, Ox ford, 2006, Oxford University Press.

Hall D, Williams J, Elliman D: The Child Surveillance Handbook, ed 3, Oxford, 2 009, Radcliffe Medical Press. Meggitt C:

Child Development: An Illustrated Guide: Birth to 19 Years, Harlow, 2012, Pears on Education Limited. Websites (Accessed

November 2016)

Contact a family: Available at: http://www.cafamily. org.uk.

Organization supporting families of disabled children across the UK.

Disability matters: Available at:

https://www.disabilitymatters.org.uk.

A fantastic Web-based learning resource for everyone involved with the care of children and yo ung people with disability.

HemiHelp: Available at: http://www.hemihelp.org.uk/ Information about heniplegia.

NICE guidelines: Available at: http://www.nice.org.uk/. ADHD, autism spectrum disor ders, spasticity

management.

SCOPE: Available at: http://www.scope.org.uk/. About disability.

Special educational needs and disability: Available at: https://www.gov.uk/topic/schools- colleges-childrensservices/special-

educational-needs-disabilities

The National Autistic Society: Available at: http:// www.autism.org.uk/
International Classification of Functioning, Disability and Health (ICF), Geneva, 20 01, WHO.
http://www.who.int/classifications/icf/en/
63
5 
Care of the sick child and young person
  Primary care    Secondary care    Children in hospital    Pain  in children    Prescribing medicines 
for children 
64
65
67
69
70
        Communicating serious problems  71
Palliative and end-of-life care  71
Ethics  72
Evidence-based paediatrics  75
Features of the care of the sick child and young person are:
•
the number of children and young people attending and being admitted to hospital con tinues to increase
•
the care of children and their families in hospital should include their holistic, emotio nal, spiritual and social needs
•
pain management needs to be considered, even in patients too young to describe it
•
ethical and consent issues are centred around considering their best interests; whe n able to understand the issues, the child or young
person should also be involved
•
research is vital to provide an evidence base to deliver quality care.
Sick children have different requirements of medical 
care from adults. This is true both in primary care 
and in hospital. Not only does hospital care need to 
be child and family centred, but also the holistic care 
provided needs to include the management of pain, safe prescribing and good  communication. It should be based on sound ethical
principles and, whenever possible, on evidence-based medicine underpinned by re search. If needed, palliative and end-of-life care should
be available. How these apply to paediatric practice is described in this chapter.
Primary care
The majority of acute illness in children is mild and transient (e.g. upper respiratory tract infection, gastro enteritis) or readily treatable
(e.g. exacerbation of asthma) and is provided by parents at home (Fig. 5.1). When more seriously ill, e.g . a high fever, not feeding,
difficulty breathing, lethargy, parents require rapid access to advice or assessment by an experienced clinician. Ad vice may be provided
on the Internet or by telephone (e.g. NHS Direct). Medical care is initially provide d by general practitioners or in some countries by
primary care paediatricians in conjunction with other healthcare professiona ls. Ready access
Tertiary care and national centres
Children’s emergency departments/Emergency Secondary Departments, Hosp itals, Mental Health Trusts, care Specialist retrieval teams 
Primary care
Telephone (NHS Direct), walk-in Centres, GP practices, Pharmacies, Dentists, Opticians
Parents and family Parents, extended family, friends
Figure 5.1 Schematic representation of provision of medical care for sick children  in the UK. Most is by the family with medical support
from primary care. Relatively few need secondary care, and only a very small number requ ire tertiary or national centres. 
to secondary care should be available. Although an individual general practitioner  will care for relatively few children with serious
chronic paediatric illnesses (e.g. cystic fibrosis, diabetes mellitus) or disability (e.g. cerebral pa lsy), each affected child and family are
likely to require considerable input from the whole of the primary care team. The medical care  of normal children, the healthy child
programme of immunization, screening and developmental reviews and health promotio n are provided within primary care.

represents 11.4% of the total number of hospital admissions. Almost three quarters of acute admissions are under the care of

paediatricians, and the remainder are surgical patients (although a paediatrician or paediatric surgeon is also involved in their care while

they are in hospital, to oversee any medical requirements). Most paediatric admissi ons are of infants and young children under 5 years of

age and are emergencies, whereas surgical admissions peak at 5 years of age, one-third of which are elective (Fig. 5.2). The most

common reasons for medical admission are shown in Table 5.1.

Secondary care

Emergency and urgent care

Almost 5 million children and young people aged 0–19 years (1 in 4) attend an Accident and Emer gency department each year in the

United Kingdom. This number continues to increase. The rates of attendance are highest in preschool children (almost 2 million) and are

only exceeded by those over 80 years of age. One reason for this is that young children need urgent review if they become significantly

ill, often with a high fever or difficulty breathing, as their condition can deteriorate rapidly. Another common reason for attendance is

injuries. Specially trained staff and special facilities are required for the urgent assessment and management of children and young

people attending an Accident and Emergency department, as listed in Box 5.1. Chil dren should be kept separate from the often

unpleasant environment of adult emergency departments. Increasingly, dedicated separate emergency departments fo r children are being

created. Hospital admission of children:

• should be avoided whenever possible

• most medical admissions are infants and

young children; surgical admissions occur throughout childhood.

175 000

Most emergency paediactric

150000

admissions are infants and young children.

125000

100000

75000

50000

25000

0 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 Age in years

Hospital admission rates

In England just over 2 million children younger than 15 years of age were admitted to hospital in 2012. This Figure 5.2 Age o f hospital

admission for children and young people aged 0–14 years in England, excluding births. (Dat a from Hospital Episode Statistics, 2013–

2014. Available at: http://www.hesonline .nhs.uk.)

Box 5.1 Services that should be available for children attending an Accident and Emergency department Environment

Initial clinical assessment occurs within 15 min of arrival Separate waiting area, play f acilities, child friendly

treatment and recovery areas Access for parents to

examination, X-ray and

anaesthetic rooms

Staff

Medical and nursing staff trained and experienced in the care and treatment o f children and young adults, including mental health

Non-paediatric staff trained in communicating with children and families

Effective communication with other health professionals

Medical care

Resuscitation and other equipment for children

Children given priority for prompt treatment

Special priority arrangement for children with serious long-term illnesses

Rapid transfer if inpatient admission is needed. If intensive or specialist care requ ired, dedicated transport services available within

regional critical care or specialist networks. Child protection advice available from experienced paed iatrician Procedures and counselling

in place following the sudden death of a child

Adapted from Welfare of Children in Hospital, HMSO, London, 1991 and Standards for Childre n and Young People in Emergency 65

Care Settings, RCPCH 2012. http://www.rcpch.ac.uk/sites/default/files/page/Redbook%20 2012.pdf

2500

2000

Admissions 4

1500

1000

Length of stay

2 500

1 0 0

2001 2002 2003 2004 2005 2006 2007 2008 2009 2010 2011 2012 2013 2014

Year

Figure 5.3 There has been an increase in the number of children and young peopl e (0–14 years) admitted to hospital in England. This is

because of a marked increase in the number of paediatric admissions, wherea s surgical admissions have declined slightly. However, the

average length of stay continues to fall. (Data from Hospital Episode Statistics, 2013 –2014. Available at: http://www.hesonline.nhs.uk.)

Figure 5.4 Providing palliative care in a child’s home. Although this child required a su bcutaneous morphine infusion to control her pain

from malignant disease, she was able to remain at home and enjoyed playing w ith her pet rabbit. (By kind permission of her parents and

Dr Ann Goldman.)

Table 5.1 Reasons for emergency admission of children under 15 years of age to hospital System

Respiratory 25%

Injuries and poisoning 17%

Gastroenterological 13%

Infection 6%

Urogenital 3%

Neurological 2%

Endocrine and

metabolic 2%

Skin 2%

Musculoskeletal 2% Other 28%

Specific disorders

Respiratory infections 20% Asthma 3%

Head injury 5%

Poisoning 1%

Gastroenteritis 5%

Viral infection 5%

Urinary tract infection 2% Seizures 1%

Diabetes mellitus 1%

Data based on 58 061 admissions, 2009–2010. ISD, Scotland.

The hospital admission rate has continued to rise over the last 20 years. Between 1999 a nd 2010 there was an increase of 28% in the

number of emergency admissions (Fig. 5.3). The effect was most marked in younger children. The reasons for this are unclear , but

probably include:

• lower threshold for admission

• the lack of an instant test to rule out serious illness

•

the increasingly risk-averse nature of medical 66 practice, which has resulted in a n increase in

short-stay admissions (<24 hours)

•

repeated admission of children with

complex conditions who survive longer, e.g. ex-preterm infants, children with cancer or org an failure.

Although the number of admissions continues to increase, strenuous efforts have been made to reduce the rate and length of

hospitalization (Fig. 5.3):

•

ambulatory paediatrics has developed to provide hospital care for medical problems outside inpatien t paediatric wards. In addition, the

subspecialty of paediatric emergency medicine has been developed to provide specialists with expertise to provide care for all acutely ill

children, with an aim of preventing admission whenever possible

•

dedicated children’s short-stay beds within or alongside the emergency departmen t are increasingly available to allow children to be

treated or observed for a number of hours and discharged home directly, avoiding the n eed for admission to the ward

•

day-case surgery has been instituted for many operations, and day units are used for co mplex investigations and procedures instead of

inpatient wards

•

home-care teams aim to provide care in the child’s home and thereby reduce hospital atten dance, admission and length of stay. This may

include specialist care, e.g. for treating diabetes and asthma or providing home oxygen ther apy or palliative care for terminally ill

children

(Fig. 5.4)

•

children’s hospices provide respite and palliative care for children with life-threatening c onditions such as malignant and

neurodegenerative disorders

•

some teams provide a ‘hospital-at-home’ service for children who are acutely ill, in order to avoid hospitalization.

Summary

Regarding secondary care for children in the UK, each year:

• Up to half of infants aged under 12 months and

one quarter of older children attend emergency departments.

• 1 in 11 children are referred to a hospital outpatient clinic.

• 1 in 10–15 children are admitted to hospital.

• 1 in 1000 children require intensive care.

• 1 in 10–15 newborn babies are admitted to a neonatal unit. Of those, about 2% ne ed intensive care.

Children in hospital

Children should only be admitted to hospital if effective and safe care cannot be pro vided at home. Removing young children from their

familiar environment to a strange hospital ward is stressful and frightening for the child, parents and family. Ill or injured children may

regress in their behaviour, acting younger than their actual age. It places the child at risk of nosocomial infections an d iatrogenic harm

through medical errors, e.g. prescribing errors. It also disrupts family routines, not only of the child in hospital but also of siblings who

still need to be looked after at home and transported to and from nursery or sc hool.

Putting the family and child at the centre of care

Care in hospital should be child-centred and familycentred, with a holistic approach towards the child and family rather than simply

focusing on the medical condition. This requires the child’s care to be tailored to their physical and emotional maturity and needs and not

having to adapt to standardized ward routines.

Parents of infants and young children should be allowed to stay with their child overnight (amazingly som ething not allowed in the

1950s) and continue to provide the care and support they would give at home. Parents know best about their child’s usual behaviour and

habits and due attention must be paid to their worries or comments, including intuition in recognizing acute deterioration in their child.

Increasingly, this is recorded as part of the regular observations on children. Good communication is needed between staff and parents to

arrive at a mutually agreed plan of responsibilities for lookin g after the child. This will avoid parents either feeling pressurized to accept

responsibilities they are not confident about or feeling brushed aside and und ervalued by staff. For children with chronic conditions,

many parents rapidly learn some of the nursing skills, e.g. nasogastric tube feeding, if required by their child.

Child-orientated environment

Children should be cared for within a children’s ward, which should be appropriat e for the child’s physical and emotional maturity and

needs. Adolescents should be with others of their own age and not forced to accept ward arrangemen ts designed for babies or adults.

Education and facilities for play should be provided.

Information and psychosocial support

Detailed information should be provided, given personally and preferably also written and available in appropriate ethnic languages.

Staff should be sensitive to the family’s individual needs according to their social, e ducational, cultural and religious background.

Emotional and psychological support should be available and all staff members should b e aware of the effects illness and injury can have

on children and their families.

For elective admissions, children and their families should be offered an advance visit and have details of proposed tre atment and

management explained at an appropriate level.

Skilled staff

Children in hospital should be cared for by specially trained me dical, nursing and support staff. The care of every child admitted to

hospital should be supervised by a paediatrician or paediatrically trained surgeon. A s children constitute only a relatively small

proportion of the workload in acute surgical specialities, surgeons and anaest hetists should treat a sufficient number of children to

maintain their skills. Dedicated children’s physiotherapists and occupational therap ists have specialist skills that are required to optimize

the outcomes for children. Play specialists are an essential part of the ward team because they can help children understand their illness

and its treatment through play. Children with complex needs should have an experienced healthcare prof essional as a contact person to

ensure care is coordinated and investigations or procedures are not duplicated.

Multidisciplinary care – coordinating care across boundaries

Successful management of paediatric conditions often relies on a network of multidisciplinary care, with all professionals working well

together as a coordinated team. If this breaks down, particularly when dealing with complex issues such as child protection and longterm

disability, there may be serious consequences for the child, family and professionals in volved. Child psychiatrists, the community

paediatric team and social services are important members of the team.

Tertiary care and networks

The number of children requiring tertiary care is relatively small, so it is concentrated in specialist centres. Tertiary care in paediatrics

includes neonatal and paediatric 67 intensive care and cardiac and oncology c entres. They

Child psychiatrist Psychologist School General Health visitor practitioner

Community paediatric services

Physiotherapist Occupational therapist

Speech and language therapist

Paediatric home care team

Hospital inpatient stay and discharge planning

Consultants in other

specialities

Social Tertiary Dietician services centre

Child development team

Figure 5.5 Some of the professionals who may need to be informed about the admissio n or discharge of a child admitted to a hospital.

have the advantage of having a wide range of specialists, not only medical and surgical st aff but also nursing and other healthcare

professionals, and diagnostic and other services. For critically ill neonates and children, spe cialist retrieval teams have been developed to

provide initial resuscitation and post-resuscitation care at secondary care hospitals an d then provide transport to the tertiary centre. For

some rare and complex disorders (e.g. immune deficiency disorders and inborn er rors of metabolism) and complex treatments (e.g.

transplantation and craniofacial surgery), national centres have been developed. A disadvantage is that they are often some distance from

the child’s home and hospital stay may be prolonged, e.g. following a bone marrow tran splant. Accommodation for parents should be

provided in this situation. In order to minimize the need for the child to travel to tertiary centr es, shared-care networks have been

established between tertiary centres and local hospitals. For example, a child with leu kaemia might attend a tertiary centre for the initial

diagnostic assessment and treatment, and subsequently for specialized treatment an d periodic review, but much of the maintenance

therapy would be provided by the local hospital together with monitoring of their health and regular blo od and other tests performed by a

specialist nurse at home. Specialists from the tertiary centre may also hold periodic clinics at the shared-care centre. Such shared-care

networks rely on excellent communication between all the health professionals in volved.

Discharge from hospital

Children should be discharged from hospital as soon as clinically and socially appropriate. Although there is increasing pressure to

reduce the length of hospital stay to a minimum, this must not allow discharge planning to be neglected. Before discharge from hospital,

parents and children should be informed of:

•

the reason for admission and any implications for the future

• details of medication and other treatment

•

any clinical features that should prompt them to 68 seek medical advice, and how this s hould be

obtained (safety netting)

•

problems or questions likely to be asked by other family members or in the community. These should be anticipated by the doctor and

discussed. For instance, what should the nursery or school, babysitters or friends need to k now? What about sports, etc.?

In addition, consider:

• suitability of home circumstances

•

social support that may need to be arranged, especially in relation to child protection

•

what medical information should be added to the child’s personal child health record

•

which professionals should be informed about the admission and what information it is relevant for them to receive.

This must be done before or at the time of discharge. The aim is to provide a seamless service of care, treatment and support with the

family and ensure that all the professionals are fully informed (Fig. 5 .5).

Summary

Children in hospital should be provided with:

• Family-centred care: holistic approach to family,

parent of young children able to stay and provide parental care.

• Child-oriented environment: appropriate for child’s age, together with educat ion and play facilities.

• Information and psychosocial support: verbal and written information for both parents and child.

• The opportunity for children and families to express their views and fears and be listened to.

• Skilled staff, specially trained to care for children.

• Multidisciplinary care.

• Access to tertiary care, with shared-care arrangements with local hospital and primary c are.

Pain in children

Pain is a major concern for children and parents across all specialties. Whilst i t is easy to ignore or underestimate pain in children, it

should ideally be anticipated and prevented and always taken seriously.

Acute pain

This may be caused by:

•

musculoskeletal tissue or organ damage, e.g. trauma, burns or fractures

•

inflammatory processes – from local infection e,g. skin, respiratory or urinary tract, joint, bone , peritonitis, meningitis

•

obstruction – e.g. intussusception, renal colic, hydrocephalus

• vaso-occlusive disease, e.g. sickle cell crisis

•

medical intervention, i.e. investigations e.g venepuncture or lumbar puncture or procedures e.g. c hange of wound dressings

• surgery.

Chronic pain

In children, chronic severe pain sometimes occurs as a result of disease such as malignant disease or juvenile id iopathic arthritis or

complex regional pain syndromes. Intermittent pain of mild or moderate severity, e.g. headache or recurrent abdominal pai n is more

common but can be very distressing for children and their families.

Management

Pain management should be approached by recognizing, responding and reassessing.

Recognizing pain

Older children can describe the nature and severity of the pain they are experiencing. In younger children and those with developmental

delay, assessing pain is more difficult. Observation and par ental impression are commonly used and a number of self-assessment tools

have been designed for children over 3 years of age (Fig. 5.6). Observation i s a key component of pain assessment in children; the child

who is extremely quiet, especially after trauma, may be in significant discomfort.

Responding to pain

The approaches to pain management are listed in Box 5.2. T his should allow pain to be prevented or kept to a minimum. Age-

appropriate explanation should be given when possi ble and the approach should be reassuring; however, it is impera tive not to lie to

children, otherwise they will lose trust in what they are told in the future. Distractio n techniques such as blowing bubbles, telling stories,

holding family toys, or playing computer games, as well as the involvem ent of trained play specialists, can be highly successful in

ameliorating pain in children. Some children develop particular preferences for a particular venep uncture site or distraction technique,

and this should be accommodated as far as possible.

Box 5.2 Approaches to pain management Information and psychosocial support

• Psychological, by the parent, doctor, nurse or play specialist

• Behavioural

• Distraction

• Hypnosis

Medical

• Local: anaesthetic cream, local anaesthetic infiltration, nerve blocks, warmth o r cold, physiotherapy, transcutaneous electrical nerve

stimulation

• Analgesics:

– mild/moderate – paracetamol, nonsteroidal anti-inflammatory drugs (NSAIDs)

– strong – morphine

• Sedatives and anaesthetic agents:

– ketamine, midazolam, nitrous oxide, general anaesthetic

• Antiepileptic and antidepressant drugs for

neuropathic pain

Consider the route for analgesics – oral if possible, otherwise intravenous, su bcutaneous or rectal. Intranasal administration is becoming

increasingly popular in children as it is well tolerated.

0 2 4 NO HURT HURTS HURTS

LITTLE BIT LITTLE MORE 6 8 10 HURTS HURTS HURTS

EVEN MORE WHOLE LOT WORST

Figure 5.6 An example of a scoring system for pain assessment in children. Wong Baker Faces scale. (From Wong DL, Winkelstein ML,

Schwartz P, et al.: Wong’s Essentials of Pediatric Nursing, St Louis, MO, 2001, Mosby 69 with permission).

For minor medical procedures, e.g. venepuncture or inserting an intravenous can nula, pain can be alleviated by explanation and the use

of a topical anaesthetic. Additional and appropriate use of inhalation agents such as nitr ous oxide or the adjunctive use of mild sedatives

(midazolam) or hypnotics (ketamine) alongside pain relief can be helpful for more painful p rocedures such as suturing a wound. For

more invasive procedures, e.g.

bronchoscopy, a general anaesthetic should be given.

Postoperative pain can be markedly reduced by local infiltration of the wound, n erve blocks and postoperative analgesics. Severe pain,

especially from fractures and surgical procedures, should be adequately treat ed with opioid analgesics. In the past, there was reluctance

to use morphine in children for fear of depressing breathing, but this should not occur when morphine is given in appro priate dosage

under nursing supervision to children with a normal respiratory drive. Intravenous morphine ca n be given using a patient-controlled

delivery system in older children or a nurse-controlled system in young children. Acutely, intranas al opiate agents (e.g. diamorphine) can

be given, which are highly effective as they are absorbed rapidly from a child’s nasal mu cosa.

Reassessing pain

This is a vital part of pain management in children. Although children often have parents and carers as advocates, the child’s pain scores

should be regularly reviewed.

Pain should be anticipated and prevented as well as being treated promptly

Absorption

In neonates and infants, oral formulations of drugs are given as liquids. However, their intake cannot be guaranteed and absorptio n is

unpredictable as it is affected by gastric emptying and acidity, gut motility and the effects of milk in the stomach. In acutely ill neonates

and infants, drugs are therefore given intravenously to ensure reliable and adequate b lood and tissue concentrations. Intramuscular

injections should be avoided if at all possible as there is little muscle bulk available for injecti on, absorption is variable and they are

painful. Rectal administration can be used for some drugs; although absorption is more reliable than oral administration, this route is not

popular in the UK. Significant systemic absorption can occur across the skin, particularly in pre term infants. This is a potential cause of

toxicity, e.g. alcohol and iodine absorption from cleansing solutions applied to the skin for procedures.

Biology

The precise mechanism of action can vary considerably between adults and chil dren and within children of different ages for the same

drug. For instance, paracetamol is metabolized by a different and slower mechanism in neonates compared with older children and

adults; this increases the risk of overdose. Some medicines should be avoided in ch ildren as they may cause idiosyncratic adverse

reactions (e.g. aspirin should be avoided in children <16 years of age as it i s associated with a risk of Reye syndrome, causing

encephalopathy and liver failure).

Prescribing medicines

for children

There are marked differences in the absorption, biology, clearance and distribution (ABCD) of drugs between children and adults. Many

doses of medicines have to be calculated using either weight, age or surface area. This added co mplexity means that children are at high

risk of prescribing errors. Indeed, a recent survey across five London hospitals fo und an error in 13% of all prescriptions for children.

Young children find it difficult to take tablets and thus a liquid for mulation is required. Most are glucose free. Persuading children to

take medicines is often a problem, especially if the preparation has a n unpleasant taste; experience and imagination help to overcome

their reluctance. Adherence (compliance) is improved when medicines are only required once or twice a day and if regimens are kept

simple.

A basic understanding of the pharmacology of the commonly encountered medicines in paediatrics is help ful – i.e. how it is absorbed in

different age groups, how it works (its biology), how it is cleared (an d how quickly), and how it is distributed. All these will affect

dosing. Sometimes only limited data are available. An up-to-da te reference formulary (e.g. the British

70 National Formulary for Children) should be consulted for all prescriptions .

Clearance

In neonates, drug biotransformation is reduced, as microsomal enzymes in the liver are immature. This leads to a prolonged half-life of

drugs metabolized in the liver, e.g. theophylline. Renal excretion is reduced by the low glomerular filtration rate, which increases the

half-life of some drugs, e.g. gentamicin. Measuring the plasma drug concentration is necessa ry under these circumstances.

Distribution

Water comprises a larger percentage of the body in the neonate (80%) than i n older children and adults (55%). Drugs that distribute

within extracellular fluid will require a larger dose relative to body weight in infants than in adults. As extracellular fluid correlates with

body surface area, this is used when accurate drug dosage is required, e.g. cytotoxic a gents. For drugs with a high margin of safety, drug

dosages are expressed per kilogram body weight or based on age, with the assum ption that the child is of average size. Weight-based

dosages should not simply be extrapolated to older children, as the dosage will be excessively large.

In the first few months of life, plasma protein concentration is low and some drugs may be partially unbo und and remain

pharmacologically active. In jaundiced babies, for example, bilirubin may compete with some drugs, e.g. sulphonamides, for albumin

binding sites, making such drugs unsuitable for use in this situation.

Summary

Regarding medicines for children:

• Oral formulations need to be given as liquids in infants and young children.

• Medicines are usually prescribed per kilogram of body weight, but check the maximum dose.

• Intramuscular drugs should be avoided if at all possible.

• Intravenous drug dosages can easily be miscalculated as they vary widely in c hildren because of their different size, and drugs often

need to be diluted; all dosages and dilutions must be checked independently by two trained members of staff.

• To improve compliance, use formulations requiring the least number of times to be taken per day.

• Always check drug dosage in the British National Formulary for Children.

Communicating serious

problems

Doctors often face the difficult task of imparting serious issues to parents and ch ildren. In paediatric practice, it may be because there is:

•

a serious congenital abnormality at birth, e.g. chromosomal disorder

•

the diagnosis of a disabling condition, e.g. cerebral palsy, neurodegenerative disorder , gross intracranial abnormality seen at ultrasound

in a preterm infant

•

a serious illness, e.g. meningitis or malignant disease, or an accident, e.g. head injury

•

sudden death of a child, e.g. sudden infant death syndrome (SIDS).

In addition, families often perceive less serious problems as being very serious, and many of the principles des cribed in the following

section will be applicable.

Initial interview

The manner in which the initial interview is conducted is very important. It may have a profound influence on the parents’ ability to cope

with the problem and their subsequent relationship with health professionals. Parents often continue to recall a nd recount for many years

details of the initial interview when they were informed that their child had a serious problem. Parents of children with life-threatening

illnesses have said that what they valued most was open, sympathetic, direct and uninterru pted discussion in private that allowed

sufficient time for doctors to repeat and clarify information and for them to ask question s (Box 5.3).

Palliative and end-of-life care

Palliative care should begin from the time of diagnosis of a life-limiting illness and may continue for many years. It includes pain and

symptom management for the child, psychosocial support for the child and family, atte ntion to practical needs and spiritual care. It may

also include respite care and bereavement support for the family after the child has die d. End-of-life care is used specifically to describe

the period of care when death is imminent.

Care plan

A care plan should be developed for chil dren with a life-threatening illness. It needs to address symptom care and medical and emotional

support, clarify the roles of the clinical teams involved and make manag ement plans for potential crises. It needs regular review as the

illness evolves.

Place of care

If the child is in hospital, there should be a private area for the child and family. If care is provided at home, it is essential that the family

has support and information about whom to contact for routine and emergency problem s, including medications, and what to expect

when the child dies and afterwards. The needs of the child are para mount, but all family members must be considered. Many will not

have encountered death before. Some families will have specific religious needs.

Care after death

Families should be involved in the child’s end-of-life care and care after the dea th, according to their wishes. Their individual cultural

and religious beliefs and rituals should be accommodated whenever possib le. For example, some families may wish to take their child

home from the hospital or hospice and some cultures have specific requirements about burial an d its timing. Families are encouraged to

hold the child before and afterwards, if they wish to do so. The family should be pr ovided with information about registering a death and

making funeral arrangements. Some families create memory boxes with mementos from the child. All health professionals involved

should be informed when the child has died. Grief following death is normal and intense and may continue to affect fa milies for years.

The family should be informed about support that is available.

Caring for staff

Many staff will be distressed as they will have known the child for a long time. If the death was sudden and unexpected, there may be

feelings of failure. Open discussion is often helpful by clarifying the eve nts and 71 allowing staff to express their concerns.

Box 5.3 How parents wish to be told about a serious problem

Setting

• In private

• Uninterrupted

• Unhurried

• Both parents (or friend/relative) present if possible

• Senior doctor

• Nurse or social worker present

Establish contact

• Find out what the family knows or suspects

• Respect the family’s vulnerability

• Use the child’s name

• Do not avoid looking at them

• Be direct, open, sympathetic

Provide information

• Flexibility is essential

• Do not protect from bad news, but pace giving it

• Name the illness/problem

• Describe symptoms relevant to child’s condition

• Discuss aetiology – parents will usually want to

know

• Anticipate and answer questions. Do not avoid

difficult issues because parents have not thought

to ask

Explain long-term prognosis

• If the child is likely to die, listen to concerns about time, place, and nature of de ath

• Outline the support/treatment available

Address feelings

• Be prepared to tolerate reactions of shock, especially anger or weeping

• Acknowledge uncertainty

• How is it likely to affect the family?

• What and how to tell other children, relatives and friends?

Concluding the interview

• Elicit what parents have understood

• Clarify and repeat

• Acknowledge that it may be difficult for parents to absorb all the information

• Mention sources of support

• If possible, give parents a contact telephone number

• Give address of self-help group.

Follow-up

• Offer early follow-up

• Suggest to families that they write down questions in preparation for the next

appointment

• Ensure adequate communication of content of interview to:

– other members of staff

– general practitioner and health visitor – other professionals, e.g. a referring

paediatrician

Adapted from Woolley H, Stein A, Forrest GC, Baum JD. Imparting the diagnosis of li fe-threatening illness in children. British Medical

Journal 298:1623–1626, 1989.

Ethics

Situations arise in paediatric practice in which the course of action that should be followed is unclear. Knowledge of the ethical theories

and principles that underpin medical practice may be helpful in understanding the issues involved. It is important to justify decisions to

investigate or treat in accordance with these principles and in language that is clear to all concerned.

Definitions of the principles of medical ethics

•

Non-maleficence – do no harm (psychological and/ or physical).

•

Beneficence – positive obligation to do good (these two principles have been part of medical e thics since the Hippocratic Oath).

• Justice – fairness for all, equity and equality of care.

•

Respect for autonomy – respect for individuals’ 72 rights to make informed and th ought-out decisions

for themselves in accordance with their capabilities.

•

Truth telling and confidentiality – important aspects of autonomy that support trust, essentia l in the doctor–patient relationship.

•

Duty – the moral obligation to act irrespective of the consequences in accordance with moral laws, which are universal, apply equally to

all and which respect persons as autonomous beings.

•

Utility – the obligation to do the greatest good for the greatest number.

•

Rights – justifiable moral claims, e.g. the right to life, respect and education, which impose moral obligations upon others.

Application of ethical principles to paediatrics

Non-maleficence

Children are more vulnerable to harm. This includes their suffering from fear of procedures, which the y may be too young to express

verbally. Doctors may do harm from lack of skill or knowledge, especially if they do not treat children frequently.

Beneficence

The child’s interest is paramount. In the UK, this is enshrined in the Child ren Act 1989 and the United Nations Convention on the Rights

of the Child. This may sometimes conflict with parental autonomy, such as the emer gency treatment of a child where the parent is not

immediately available or when details are given to social workers in suspected child abuse.

Justice

This involves ensuring a comprehensive child health service, including the prevention of illness and equal acce ss to healthcare, even

when poverty, language barriers and parental disability are present.

Autonomy

Children have restricted but developing rights in law. Parents are trusted to make decisions on their child’s behalf because they will

usually act in the child’s best interests, but there may be circumstances, e.g. child abuse , in which this is not the case.

Truth telling

It is more difficult with children than adults to be sure that they understand what is happening to th em. For example, it is easy to reassure

children falsely that procedures will not hurt; when they find this is untrue, trust will be lost f or future occasions.

Consent

Valid consent is required for all medical interventions other than emergencies or when urgent intervention is necessary to prevent seriou s

risk of present or future harm. It provides the ethical and legal au thority for action, which would otherwise be a common assault or

interfere with the right of individuals to decide what should be done to them (autonomous choice). To be valid, consent must be

sufficiently informed and freely given by a person who is competent to do so. Clin icians have a duty to provide sufficient information to

enable a reasonable person to make the decision and must answer all questions honestly. Information has to be given in languag e that is

clear and understandable.

In UK law, the legal age of consent to medical treatment is 16 years. The right of childr en below this age to give consent depends on their

competence rather than their age. They may consent to medical examination and treatme nt provided they can demonstrate that they have

the maturity and judgement to understand and appraise the nature and implications of th e proposed treatment, including the risks and

alternative courses of action. This case was tested in law (Gillick vs. West Norfolk Health Autho rity) and resulted in the Fraser

Guidelines. These were originally devised to provide advice for healthcare professio nals in determining when it would be appropriate to

give oral contraceptive agents to girls without their parent’s knowledge. In order to be Fraser Comp etent, the healthcare professional has

to ensure that the girl (although under the age of 16) understands his/her advice, could no t be persuaded to inform her parents or for them

to be informed that she is very likely to continue having sex with or with out contraception, her physical or mental health or both are

likely to suffer unless she receives contraception and her best interests are served by receiving contraception. The princi ples of this case

are now applied in other situations.

When a child lacks the maturity and judgement to give consent, this capacity is given to a person having parental responsibility – usually

a natural parent, or to a court. In practice, problems occur only when there is disa greement between the child and the parents and

clinicians over treatment.

Despite including children’s views in consent, legal judgements have not supported children who refuse treatment which parents and

clinicians feel to be in their best interests, especially if its purpose is to save life or preven t serious harm, e.g. heart transplantation for

acute cardiomyopathy in an intelligent 15-year-old patient. Where disputes cannot be reso lved by negotiation or mediation, or there is

doubt over the legality of what is proposed, legal advice should be sought. Whatever the outcome, children should have their views heard

and be given reasons as to why they are being overridden.

Confidentiality

Children are owed the same duty of confidentiality as adults, irrespective of their legal capaci ty. In general, personal information about

them should not be shared without their consent or agreement unless it is necessary for their health or to protect them from serious harm,

e.g. in actual or suspected child abuse.

Best interests

It is a general ethical and legal maxim that the best interests of the c hild are paramount. Doctors therefore have a duty to save life, restore

health and prevent disease by treatments that confer maximum benefit and minimal harm a nd which respect the autonomy of the child as

far as possible. Parents have the ethical and legal duty to make decisions on behalf of their child, pr ovided that they act in their best

interests. Disagreements can occur between parents and healthcare professionals over the best inte rests of the child especially when the

withholding or withdrawing of life-sustaining treatment is involved. Under these circumstances, an ind ependent opinion may be helpful,

but sometimes legal intervention is required. Courts have generally been supportive of the position that in some circumstances the burden

to the child of providing life-sustaining treatment outweighs its benefits.

Case Histories 5.1 and 5.2 demonstrate some of the ethical problems encountere d in paediatrics.

The ethics of research in paediatrics

Research involving children is important in promoting children’s health and well-being and in providing an evidence base for practice.

However, the number of trials and other forms of research is much less than in adult medicine. This pau city of research is highly

detrimental to improving care, and great effort is being made to increase research conducted in paediatrics. A 73 particular example is

our knowledge about drug therapy

Case history 5.1

Diabetes mellitus

Jack, aged 5 years, has a high blood sugar and is showing classical signs of diabetes. Jack hates needles and m akes it clear that he rejects

any sort of injection.

‘No I don’t want an injection, go away’ is the message, loud and clear, when you try to take bloo d to confirm the diagnosis. Yet with the

full and anxious approval of his parents, you go ahead and do these things anyway. If Jack was 25 years old and made it clear that he

refused your interventions, while you would strongly urge him to give permission and explain that he w as in real danger of dying as a

result of such refusal, you would not (presumably) treat him against his will, eve n if his mother and father still urged you to do so.

In contrast to traditional adult medical ethics, in paediatrics the autonomy of the patient either is not present at all (as in babies and young

infants) or is often not sufficiently developed to be respected if the child’s decision conflicts with what other people consider to be

appropriate in that child’s best interests. The decisions about the child’s medical care are genera lly entrusted to the parents.

Why the parents? They are given the privilege and responsibility of making decisions on behalf of their children largely because they are

most likely to protect and promote the interests of their children. The normal assumption in paediatric p ractice is that doctors should

work closely with parents and give advice that parents may or may not accept. Wherever po ssible, a mutually trusting and respectful

working relationship should be developed and maintained, both because it will be in the best interests of the child and because it will

tend to lead to far better experiences of medical care for all involved.

Also, consider whether your decision would have been the same about performin g an extra venepuncture for a special blood test for an

ethically approved research project (see the ‘The ethics of research in paediatrics’ section).

Case history 5.2 Acute lymphatic leukaemia, truth telling and stopping treatment

Millie, aged 10 years, has acute lymphoblastic leukaemia, which was diagnosed 4 years ago. She has relapsed, with early involvement of

the central nervous system. She is well known to the staff of her local children’s war d as she has had four relapses of her leukaemia and a

previous bone marrow transplant. It is the opinion of her paediatric consultant that no fur ther medical treatment is likely to be curative.

Millie asks one of the junior paediatric doctors why her parents had been so upset following a recent discussion with the consultant, at

which she had not been present. The parents had made it very clear to all the staff that they did not want their child to be informed of the

poor prognosis, nor would they tell her why she was not having further chemotherapy.

The parents have heard of a new drug that is claimed, in some reports on the inter net, to help such children. However, it is very

expensive, there is evidence that it does not cross the blood–brain barrier and the do ctors consider it highly unlikely to be of benefit. The

parents insist on a trial of the drug.

Ethical issues to consider are:

•

Autonomy – the parents claim the right to control the information reaching the ir child on the grounds that it is in her best interests as

judged by them.

•

Truth telling – the staff feel that it would be wrong to reassure her fa lsely.

•

Non-maleficence – the parents wish to avoid the shock of the news and the loss of hope in their

daughter.

•

Beneficence – the staff wish to support the child effectively, which would be difficult if she w ere to be isolated by ignorance of what is

upsetting her family and carers.

•

Justice – should scarce resources be used on this new drug? Because her parents are desperate, sho uld Millie be given a drug which, in

the specialist’s opinion, will not benefit her?

•

Best interests – what are Millie’s best interests and who should decide them? What weigh t should be given to Millie’s own views based

on her

experience of her illness?

In such situations, further discussion between the

parents and staff whom they trust is usually the key to resolving the situation. The parents will need to understand the mutual benefits of

adopting as open a pattern of communication as possible. They may be helped by a member of staff being present or helping them talk or

listen to the child, who will usually understand more than the parents suspect.

Parents almost always wish to do the best for their child. Detailed explanation is likely to help them see that the child’s best interests

may not be to seek further cure but to accept a change of focus towards palliative care. A second opinion from an independent specialist

may be helpful, as may a specific ethical review. If, despite all efforts to reach agreement, the parents reject the doctor’s advice, it is

fairest to let a court of law decide whether or not to accept the parents’ demands.

in children. Although they differ from adults in their anatomy, physiology, disease patterns an d responses to therapy, many drugs are not

licensed for use in children because they have not been specifically tested in them. Pharmaceutica l companies are now being encouraged

or forced by legislation to test their medications in children.

Where a child suffers from a particular disease, e.g. acute lymphoblastic leukaemia, r andomized controlled trials may be used to compare

treatment regimens. The ethical justification for such trials is that there is no good reaso n to believe that one of the treatments would be

better than the other – ‘therapeutic equipoise’ – and that the stan dard treatment used for comparative purposes is the best currently

available.

The situation is different when an investigation, e.g. blood test, X-ray or intervention is prop osed for healthy children as part of a control

group in a trial or for the purpose of establishing a normal range. Both can be ethically justified provided that the procedure in question

carries no more risk than generally encountered and accepted in everyday life.

Whatever the nature of the research, a number of criteria must be met:

•

appropriate research should be first carried out in adults or older children

•

the project should have a sound scientific basis and be well designed

•

the researchers should be competent to carry it out in the time specified

•

sufficient information should be given in a form comprehensible to the child and fa mily to enable them to give valid consent to

participation, e.g. by provision of information sheets in an appropriate form a nd language or by the use of independent translators

•

parents must have the option to withdraw their child from the research at any stage with out prejudice

•

the project must be reviewed and approved by an independent scientific and ethical process (Research Ethics Committee).

This is an increasing requirement for not only groups of parents and carers to be involved in considering research stu dies, but to also get

input from groups of children and young people themselves.

Summary

Ethics in paediatrics:

• Both clinicians and parents aim to do what is in their child’s best interests.

• Conflicting views can usually be resolved by good communication.

• If not resolved, help may be sought from further, wider communication or a sec ond, truly independent opinion, or sometimes from

hospital ethical committees or may go to court.

• In older children who understand the issues and have strong views as to wha t should or should not be done to them, there is increasing

ethical and legal support for them to exercise as much autonomy as they are capable of.

Evidence-based paediatrics

Clinicians have always sought to make decisions in the best interests of their patients. Ho wever, such decisions have often been made

intuitively, given as clinical opinion, which is difficult to generalize, scrutinize or challenge. Evidence-based practice provides a

systematic approach to enable clinicians to use the best available evidence, usually from research, to help them solve their clinical

problems. The difference between this approach and old-style clinical p ractice is that clinicians need to know how to turn their clinical

problems into questions that can be answered by the research literature, to search the literature efficiently and to analyze the evidence

using epidemiological and biostatistical rules (Figs 5.7 and 5.8). Sometimes the best avai lable evidence will be a high-quality systematic

review of randomized controlled trials, which are directly applicable to a particular patient. For other questions, lack of more valid

studies may mean that the decision has to be based on previous experience with a small number of similar p atients. The important factor

is that, for any decision, clinicians know the strength of the evidence and therefore the degree of uncertainty. As this approach requires

clinicians to be explicit about the evidence they u se, others involved in the decisions (patients, parents, managers and other clinicians)

can debate and judge the evidence for themselves.

Why practise evidence-based

paediatrics?

There are many examples from the past where, through lack of evidence, clinici ans have harmed children, for example:

•

Blindness from retinopathy of prematurity . In the 1950s, following anecdotal reports, many neonatal units started nursing all premature

infants in

additional ambient oxygen, irrespective of need. This reduced mortality, but as no properly

conducted trials were performed of this new

therapy, it took several years for it to be realized that it was also responsible for many thousands of babies becoming blind from

retinopathy of

prematurity.

•

Advice that babies should sleep lying on their front (prone), which increases the risk o f SIDS (Sudden

Infant Death Syndrome). Medical advice given

during the 1970s and 1980s to put babies to sleep prone, appears to have been bas ed on

physiological studies in preterm babies, which

showed better oxygenation when nursed prone. Furthermore, autopsies on some infan ts who died of SIDS showed milk in the trachea,

which was

assumed to have been aspirated and this was

thought to be more likely if they were lying on their back. However, an accumulation of more

valid evidence from cohort and case–control

studies showed that placing term infants

prone was associated with an increased risk 75 of SIDS.

Application of evidence-based medicine to clinical problems

Frame question

What evidence is needed to reach your decision?

Clinical problems are often complex and the different elements (aetiology, diagnosis, the rapy, prognosis) need to be tackled as separate

questions. Most clinical questions can be structured into these three components:

Patient population A population

similar to your

patient

Intervention

e.g. giving antibiotics compared with not giving antibiotics

Clinical outcome The most important outcomes, good or bad

for the evidence

Search the research literature. Use search filters for efficiency. For randomized clinical trials and systematic reviews of interventions, go

to Cochrane Library.

If there is nothing which addresses your question, or if your question is about prognos is or diagnosis, you need to use an online database,

such as MEDLINE.

Appraise the evidence

Appraise the validity (closeness to the truth) and usefulness (relevance to your patient) of the evidence.

In intervention studies, there is a hierarchy of validity:

• A systematic view of randomized controlled trials (RCTs)

• Individual RCTs

• Cohort studies

• Case–control studies

• Case reports or anecdotal experience of respected authorities If your question is abou t a diagnostic test or observation, you need a study

that has made an independent, blind comparison with an adequate reference standard b ased on patients with a similar spectrum of disease

to your patient.

If your question is about prognosis, you need a study that follows a group of patients similar to y our patient (cohort), over an adequate

period, to see what happens to them.

Make

a decision

Incorporate the evidence into clinical or policy decisions. This depends on judgements a bout the validity and relevance of the evidence,

the probability of the different outcomes, and the values assigned to them by the patient, clinician and wider society. They are also

heavily influenced by what is feasible within the organization. We will often agree on th e validity of the evidence and the probability of

the different outcomes, but decisions may differ because the people involved hold diffe rent values.

Evaluate

your performance

Clinical problem

Ensure that evidence-based decisions are translated into practice and measure the wider effects of implementation on healthcare. This

may involve audit.

Figure 5.7 Application of evidence-based medicine to clinical problems.

Example of evidence-based practice in solving a clinical problem

Clinical problem:

Should you treat a 3-year-old boy with otitis media with antibiotics?

Population Intervention Outcomes

Frame question Children with acute otitis media (AOM) Antibiotics compared with none Pain

Hearing loss

Adverse drug effects Other complications

for the evidence

Cochrane Library – 47 meta-analyses, one corresponding best to this child

Appraise the evidence

Make

a decision

Reduced Increased risk risk 0.5 1.0 1.5

Pain at 24 hours 0.89 (0.78–1.01) Pain at 2–3 days 0.70 (0.57–0.82) Pain at 4–7 days 0.76 (0.63–0.91)

Perforation 0.82 (0.74–0.90) Vomiting, diarrhoea, or rash 1.38 (1.19–1.59) Deafnes s at 3 months 0.97 (0.76–1.24) Risk ratio

Antibiotics do not affect pain at 24 hours, but reduce pain at 2–3 and 4–7 days. They r educe the number of perforations of the ear drum

but not of hearing loss. Antibiotics had side-effects of diarrhoea, vomiting and rash.

However:

• rare complications, e.g. mastoiditis were not assessed, as sample size was

too small

• risk of antibiotic resistance and cost were not evaluated

The number needed to treat for pain reduction was 20 at 2–3 days and 16 at 4–7 days .

However, antibiotics should be prescribed for children under 2 years of age with bilate ral otitis media, who are a different study

population.

You explain to the parents that antibiotics:

• would reduce the risk of pain lasting for more than 24 hours but you would need to treat between 16 and 20 children for 1 to benefit

• would cause minor side-effects such as vomiting and diarrhoea in 1 in 14

children

The decision on whether to treat or not depends upon the parents’ values

about pain and adverse side-effects. One approach would be to provide this

information and a prescription for antibiotics but advise the parents to wait

2–3 days and only give antibiotics if the child is still experiencing pain.

Figure 5.8 An example of an evidence-based medicine approach to a clinical prob lem – the treatment of acute otitis media with

antibiotics. (From Venekamp RP, Sanders SL, Glasziou PP, Del Mar CB, Rovers MM: A ntibiotics for acute otitis media in children.

Cochrane Database of Systematic Reviews (1):CD000219, 2015 with permission). Evidence-based medicine allows clinician s to be

explicit about the probability (or risk) of important outcomes. For example, in discussin g with parents the prognosis of a child who has

had a febrile seizure, the clinician can state that ‘the risk of developing epilepsy is 1 in 100’, instead of using vague terms, such as ‘he/she

is unlikely to develop epilepsy’.

Explicit analysis of evidence has also become more

important with the increasing delivery of healthcare by teams rather than individuals. Each team member needs to understand the

rationale for decisions and the probability of different outcomes in order to contr ibute towards clinical decisions and to provide

consistent information to patients and parents.

To what extent is paediatric practice based on sound evidence?

There are two paediatric specialities in which there is a considerable body of reliable, h igh-quality evidence underpinning clinical

practice, namely, paediatric oncology and, to a lesser extent, neonatology. Mana gement protocols of virtually all children with cancer are

part of multicentre trials designed to identify which treatment gives the best p ossible results. The trials are national or, increasingly,

international, and include short-term and long-term follow-up. Examples of the r ange of evidence available in paediatrics are given in

Box 5.4. In general, the evidence base for paediatrics is poorer than in adult med icine. Reasons for this are:

•

the relatively small number of children with significant illness requiring investig ation and treatment. To overcome this, multicentre trials

are required, which are more difficult to organize and expensive

•

consent is required on the child’s behalf; there has been concern that some parents could find it difficult to consent to treatment that

could turn out to be inferior to the standard treatment or have previously unknown side- effects and that they had agreed to this

•

consent is often required during a time of parental distress, e.g. after the birth of a preterm infants or after the acute onset of a serious

illness

•

as children cannot give consent themselves, it may not be possible to justify performing add itional investigations or other tests, especially

if they are painful or not of direct benefit to the child

•

there is less of a culture of research, and of conducting randomized controlled trials in par ticular, in paediatrics compared with adult

medicine.

For evidence-based practice to become more widespread, clinicians must r ecognize the need to ask questions, particularly about

procedures or interventions which are common practice. However, evidence-based medicine is n ot cookbook medicine. Incontrovertible

evidence is rare, and clinical decisions are complex, whic h is why clinical care is provided by skilled and experienced clinicians.

Evidence-based healthcare cannot change this, but is an essential tool to help clinicians make rational, informed decisions together with

their patients. In addition, evidence-based paediatrics provides a way for clini cians to articulate their priorities for research and thereby

set research agendas that are relevant to service needs.

Box 5.4 Examples of the range of evidence available in paediatrics 1. Clear ev idence of benefit

Therapeutic hypothermia for newborn infants with hypoxic-ischaemic encephalopathy Meta-analysis of moderate cooling before 6

hours of age for 72 hours shows reduced death or major neurodisa bility at 18 months of age, with seven babies needed to be treated for

benefit; there is also improved survival with normal neurological function (Fig. 11.4 in Ch. 11: Neona tal Medicine).

On the basis of animal studies, several multicentre, prospective randomized studies of term infa nts with perinatal asphyxia of intensive

care with or without cooling were conducted.

Infants had to be identified, assessed, transferred to a treatm ent centre and treatment started within 6 hours of birth.

Consent had to be obtained rapidly from parents, shortly after being informed that their baby was dangerously ill. They had to understand

that randomization meant their baby may not receive the new treatment, and the new trea tment may have unknown side-effects.

It was only when the results of several trials were amalgamated that significant improvement was 78 identified. This demonstrates some

of the difficulties that have to be overcome when conducting trials in children, but that it is oft en possible to overcome them. Cooling for

moderate or severe perinatal asphyxia has become standard practice in the UK and many coun tries.

2. Clear evidence, but need to balance benefits and harms

Antibiotic treatment for children with otitis media

As shown in Fig. 5.8, there is a balance of risk and benefits.

3. No clear evidence

Migraine in children

Although there is good evidence for the use of simple analgesic agents, prophy lactic treatment of migraine with β-blockers or pizotifen is

poor. (See Wöber-Bingöl Ç Pharmacological treatment of acute migraine in adolescents and children . Paediatr Drugs. 2013

Jun;15(3):235–46 (http://www.ncbi.nlm.nih.gov/ pubmed/23575981?dopt=Abstract )). This causes a dilemma when choosing the best

prophylaxis for a child.

Summary

Evidence-based paediatrics:

• Requires clinical problems to be framed into questions, to search the literature a nd then appraise the evidence in order to make a

decision.

• Is less well developed than in adult medicine.

• Should be adopted whenever possible. However, clinical decisions are complex and the evidence base usually informs rather than

determines clinical decision making.

Acknowledgements

We would like to acknowledge contributors to this

chapter in previous editions, whose work we have drawn on: Tom Lissauer (1st, 2nd, 3rd, 4th Editions), Maude Meates-Dennis (2nd, 3rd

Edition), Graham Clayden (2nd Edition), Ruth Gilbert (2nd Edition), Raanon Gillon (2nd Edition), Vic Larcher (3rd Edition).

Further reading

Websites (Accessed November 2016)

Accident and Emergency Statistics: Demand,

Performance and Pressure . House of Commons Library. 2016. www.parliament.uk

Accident and Emergency Statistics Review for UK

BMJ Clinical Evidence: Available at: 
http://clinicalevidence.bmj.com/ceweb.
Overview of topics in evidence-based medicine.
Centre for Evidence-Based Care (CEBM), Oxford: Availa ble at: http://www.cebm.net.
Details about evidence-based medicine.
Cochrane Systematic Reviews: Available at: http://www.cochrane.org.
Every Child Matters: Available at: 
www.education.gov.uk.
National framework for services for children and young people.
Trip Database: Available at: 
http://www.tripdatabase.com.
Research engine for evidence-based medicine and clinical guidelines.
6
 
Paediatric emergencies
The seriously ill child 80
Cardiopulmonary resuscitation 83
The seriously injured child 83
Respiratory failure 83
Shock 87
Sepsis 88 Anaphylaxis 89 Neurological emergencies 90 Apparent life-threatening events 94 Un expected death of a child 94
Features of paediatric emergencies are:
•
the rapid clinical assessment of the seriously ill child, including assessment of level of 
consciousness, should take less than 1 minute
•
the management of cardiopulmonary resuscitation in children is different from  adults but follows the same principles
•
key to management of the seriously ill child is early recognition and intervention to  prevent respiratory or circulatory failure; once
present they are difficult to reverse
•
management of status epilepticus and anaphylaxis is according to national guidelines.
There are few situations that provoke greater anxiety 
than being called to see a child who is seriously ill 
or injured. Although such situations in children are 
uncommon, it is critically important to recognize those 
with serious physiological deterioration and to start the 
correct treatment promptly.
Some children will require transfer to a paediatric 
intensive care unit (PICU). PICUs are usually based in 
children’s hospitals and in the UK, children are usually 
transferred to the PICU by a specialized transport 
team.
This chapter outlines a basic approach to the emergency management of the seriously ill  or injured child.
35 Infants
Heart rate
30 25
Young
25 20
 children
Older
 children 110 95
120 160
Infants
150
 Young children
80 Older
children
The seriously ill child

The rapid clinical assessment of the seriously ill child will identify potentia l respiratory, circulatory or neurological failure. This should

take less than 1 minute. Normal vital signs are shown in Fig. 6.1 and a rapid assess ment schema is shown in Fig. 6.2.

Resuscitation is given immediately, if necessary, followed by secondary assessment and other emergency treatment.

The seriously ill child may present with shock, respiratory distress, as a drowsy/unconscious o r fitting child, or with a surgical

emergency. Their causes are listed in Fig. 6.4. Early recognition of the dete riorating child is key to a successful outcome and, in the UK,

paediatric early warning scores are now recommended in order to identify children w ho are seriously unwell. These may include

measurement of heart rate, respiratory rate, oxygen saturation and temperature; a highe r score than normal suggests deterioration of

clinical condition requiring intervention.

Respiratory rate

Vital signs

Systolic blood pressure (50th centile)

80 90 Infants

90 110

100

Older children Young

children

Figure 6.1 Variation in the normal range for respiratory rate, heart rate, and s ystolic blood pressure with age.

Assessment of the seriously ill child

The rapid clinical assessment: ABCDE

Should take <1 min

Airway and breathing

Look, listen, and feel for:

Airway obstruction or respiratory distress Work of breathing (respiratory effort) Resp iratory rate

Stridor, wheeze

Auscultation for air entry

Cyanosis

Oxygen saturation

Resuscitation (if necessary)

Includes basic/advanced life support Consider:

Jaw and neck positioning

Oxygen

Suction and foreign body removal

Supporting breathing

Chest compression

Monitoring oxygen saturation and heart rate

Secondary assessment

Circulation

Feel and assess:

Heart rate

Pulse volume

Capillary refill time (Fig 6.3) Blood pressure

Disability

Observe and note:

Level of consciousness (Box 6.1)

Posture – hypotonia, decorticate, decerebrate Pupil size and reactivity

Exposure History from:

• parents

• witnesses

• general practitioner

• paramedical staff

• police

Examination including:

• evidence of trauma

• rash, e.g. meningococcal

• smell, e.g. ketones, alcohol

• scars, e.g. underlying congenital heart disease

• MedicAlert bracelet

Investigations

• blood glucose

Other emergency interventions

Figure 6.2 Assessment of the seriously ill child.

Capillary refill time Box 6.1 Rapid assessment of level of consciousness (AVPU) – more detailed evaluation is with the Glasgow Coma

Scale (see Table 6.2)

A ALERT

V Responds to VOICE P Responds to PAIN U UNRESPONSIVE

A score of P means that the child’s airway is at risk and will need to be maintained by a manoeuvre or adjunct.

Capillary refill time is affected by body exposure to a cold environment

Press on the skin of the sternum or a digit at the level of the heart

Apply blanching pressure for 5 s

Measure time for blush to return

Prolonged capillary refill if >2 s

Figure 6.3 Capillary refill time.

Presentation and causes of serious illness in children Presentation Cause Examples

Hypovolaemia

Sepsis

Dehydration – gastroenteritis Diabetic ketoacidosis

Blood loss – trauma

6Shock Maldistribution of fluid

Sepsis

Anaphylaxis

Cardiogenic

Arrhythmias Heart failure

Neurogenic Spinal cord injury

Upper airway obstruction (stridor)

Croup/epiglottitis

Foreign body

Congenital malformations Trauma

Respiratory distress

Lower airway disorders

Asthma

Bronchiolitis Pneumonia

Pneumothorax

Post-ictal

Status epilepticus

Infection Meningitis/encephalitis

The drowsy or unconscious or seizing

child

Metabolic

Diabetic ketoacidosis, hypoglycaemia, electrolyte disturbances (calcium, magnesium, sod ium), inborn error of metabolism

Head injury Trauma/non-accidental injury

Drug/poison ingestion

Intracranial haemorrhage

Surgical

emergencies Acute abdomen

Appendicitis Peritonitis

Intestinal obstruction

Intussusception

Malrotation

Bowel atresia/stenosis

Figure 6.4 The main modes of presentation of serious illness in children and their cause s.

Summary

Regarding the seriously ill child

• Prevention of cardiopulmonary arrest is by early recognition and treatment o f respiratory distress and/or respiratory or circulatory

failure.

• Paediatric early warning scores are

recommended to help identify deterioration in clinical condition.

Cardiopulmonary resuscitation

In adults, cardiopulmonary arrest is often cardiac in origin, secondary to ischaemic heart disease. By contrast, in previously well children

with healthy hearts, cardiopulmonary arrest is usually secondary to hypoxia from respiratory or neurologica l failure or shock. Basic life

support must be started immediately.

causes hypoxaemia, which can lead to tissue hypoxia, or hypercarbia which can cause carbon d ioxide narcosis, or both. In addition to

these potentially life-threatening complications, when respiratory distress is prolong ed, the child is at risk of becoming exhausted and

having a respiratory arrest. Respiratory failure must therefore be recognized a nd treated promptly in order to maintain gas exchange and

prevent complications.

Assessment

Assessment of the child with respiratory failure ( Box 6.2) follows the standard ABC approach, with an emphasis on the work of

breathing and the effects of hypoxaemia on other organ systems, particularly the heart and brain. Once an initial assessment of severity

has been made and supportive measures are instituted, investigations and therapy a re commenced. Specific conditions causing

respiratory failure and their treatment are discussed in Chapter 17 (Respiratory disorders).

Paediatric basic life support

See Fig. 6.5.

Paediatric advanced life support

See Fig. 6.6. Children who have been resuscitated successfully should be transferred to a paediatric hig hdependency or intensive care

unit.

Doctors should be able to provide life support for children of all ages, from newborn to adolescents.

The seriously injured child

A structured approach to major trauma ensures that life-threatening injuries are identified and managed during the primary survey before

other less serious injuries are identified during the secondary surv ey. Cervical spine injury should be assumed; the preferred method of

immobilization is manual in-line stabilization (holding the neck in a midline neutr al position) followed by head blocks and straps if

necessary. Routine application of cervical collars is no longer r ecommended. In trauma, catastrophic haemorrhage should be dealt with

immediately, before the usual airway, breathing, circulation (ABC) approach (Fig. 6.7).

Respiratory failure

Respiratory failure may be defined as failure of the lungs to maintain adequate gas exchange. It may be due to alveolar hypoventilation,

diffusion impairment, intrapulmonary shunting, or ventilation–perfusion mismatch. These may occur singly or in combination depending

on the clinical condition, e.g. pneumonia may be associated with both diffusion impairment and ventilation–perfusion mismatch.

Respiratory failure

Supportive therapy

Supportive therapy can be escalated from oxygen (via face mask or nasal cannula) to n oninvasive ventilation to endotracheal intubation

and mechanical ventilation.

Oxygen

Children with peripheral capillary oxygen saturation (SpO

) less than 92% should receive oxygen to achieve normal saturations. The

fraction of inspired oxygen (FiO

) can be titrated according to pulse oximetry. The maximum fractional concentrati on of oxygen

delivered via facemask is 0.60 unless a reservoir bag is added.

Noninvasive ventilation

Noninvasive ventilation (ventilatory support without endotracheal intubation) inc ludes continuous positive airways pressure (CPAP) or

biphasic positive airways pressure via face mask or nasal mask. Recently,

Box 6.2 Indicators of respiratory distress in infancy Moderate

• Tachycardia

• Respiratory rate >50 bpm

• Nasal flaring

• Use of accessory muscles

• Intercostal and subcostal recession

• Head retraction

• Unable to feed

Severe

• Cyanosis

• Getting tired

• Reduced conscious level

• Saturation <92% despite oxygen therapy

• Rising partial pressure of carbon dioxide (pCO

) 83

Paediatric basic life support (Trained resuscitator, no equipment)

SAFE approach

Check responsiveness: Ask 'Are you all right?' Stimulate gently

Do not shake infants or suspected cervical spine injury

No Shout for help

Open airway:

• Head tilt, chin lift

• Jaw thrust (if unsuccessful)

No breathing

Check breathing for max 10 s:

• Look – for chest movement

• Listen – for breath sounds

• Feel – for air movement

• No or abnormal breathing

Airway Airway opening using head tilt/chin lift manoeuvre

Chin lift in infants

• Head in neutral position

• Avoid overextension

• Remove secretions/foreign

body under direct vision

Chin lift in children

Head in 'sniffing' position

Jaw thrust

Two fingers of each hand behind each side of the mandible and push the jaw forward

No or abnormal breathing

Breathe

Remove any obvious obstruction Give 5 initial rescue breaths

Breathing (if bag-mask not available)

Infant: mouth over infant's nose and mouth (if bag mask not available) Child: pinch nos e, mouth to mouth

The chest should rise with each breath. Blow for 1 s

Circulation

Optimal position for chest compression

Assess ‘signs of life’ - movements, coughing, normal breathing Check pulse for m ax 10 s:

>1-year old – carotid, femoral <1-year old – brachial, femoral

No ‘signs of life’ (unless definite pulse >60/min)

(a) (b)

Chest compressions:

15 chest compressions: 2 breaths Rate 100–120 compressions/min (c)

Push ‘hard and fast’

If alone, give 1 min of resuscitation before seeking help. It may be possible to continue CPR whilst carrying an infant or small

child to summon help.

A pproach with care

Free from danger

Get help if >1 rescuer or witnessed, sudden collapse when defibrillation may be n eeded.

(a) Infant. Two thumbs on lower half of sternum with hands round the thorax (n eeds two rescuers). If alone – compress sternum with tips

of two fingers.

(b) Small child. Heel of one hand over lower half of sternum.

(c) Large child. Both hands over lower half of sternum. Depress the sternum by at least one-third of the depth of the chest i.e. 4 cm for

an infant or 5 cm in a child

Figure 6.5 Paediatric basic life support. (Adapted from Resuscitation Council (UK): Guidelines on Paediatric Life Support, London,

2015, Resuscitation Council.)

Paediatric advanced life support (Health professional with equipment) Unresponsive?

Not breathing or only occasional gasps?

Call resuscitation team (1 min CPR first, if alone)

Airway and breathing airway

– see basic life support

Breathing – 5 initial rescue breaths

Use positive pressure ventilation, preferably bag and mask. If required and skilled op erator present, advanced airway – intubate and

ventilate or laryngeal mask

Give high concentration O

Formula for endotracheal tube size by age in whole years Internal diameter (mm) = (age/4) + 4

Length for oral tube (cm) = (age/2) + 12

Length for nasal tube (cm) = (age/2) + 15

Circulation

15 chest compressions: 2 breaths Compression rate 100–120/min (continuously if intubated)

Ventilation rate 10–12/min

Establish intravenous access, if delay use intraosseous route

Attach defibrillator/monitor Minimise interruption

Technique to establish intraosseous infusion in the tibia

• 18-gauge trochar with needle

• Anterior surface, 2–3 cm below tibial

tuberosity

Assess rhythm

Shockable Non-shockable

Ventricular fibrillation

(VF) or pulseless

Return of spontaneous circulation

ventricular tachycardia (VT)

Pulseless electrical activity (PEA) or asystole

1 Shock

Post-cardiac arrest treatment

4J/kg •

•

Immediately resume

•

CPR for 2 min

•

Minimise interruptions

•

Use ABCDE approach Controlled oxygenation and ventilation Investigations Treat prec ipitating cause Temperature control Therapeutic

hypothermia?

Give adrenaline (epinephrine) every 3–5 min (alternate cycles) IV/IO

During CPR

• Ensure high-quality CPR: rate, depth, recoil

• Plan actions before interrupting CPR

• Give oxygen

• Vascular access (intravenous, intrasseous)

• Give adrenaline (epinephrine) every 3−5 min (10 µg/kg IV or IO,

i.e. 0.1 ml/kg of 1 in 10 000 solution), otherwise 100 µg/kg via tracheal tube

• Consider advanced airway and capnography (end-tidal CO2 monitoring)

• Continuous chest compressions when advanced airway in place

• Correct reversible causes

• Consider amiodarone (5 mg/kg) after 3 and 5 shocks

Immediately resume CPR for 2 min

Minimise interruptions

Give adrenaline (epinephrine) immediately, then every

3–5 min (alternate cycles)

Reversible causes

•

• Hypoxia

Hypovolaemia

Hypokalaemia/ hyperkalaemia, metabolic

Hypothermia

Tension pneumothorax

Thrombosis (coronary or pulmonary) Tamponade – cardiac

Toxic/therapeutic disturbances

Figure 6.6 Paediatric advanced life support. (Adapted from Resuscitation Council (UK) : Guidelines on Paediatric

85Life Support, London,

2015, Resuscitation Council.)

Management of the seriously injured child Primary survey

Catastrophic major

haemorrhage

Presence of external,

exsanguinating haemorrhage Direct pressure if compressible haemorrhage. Tournique t if extremity. Packing with haemostatic dressing if

available

Airway and cervical spine

Presume cervical spine injury Jaw thrust to open airway. Avoid neck extension immobil ization with manual in-line stabilization, then

head block and strapping.

C-spine clearance only with appropriate clinical and radiological evidence.

Breathing and ventilatory

support

Look, listen, feel, and percuss Give high-flow oxygen.

Bag-mask then mechanical ventilation if needed. If asymmetry on examination, conside r

pneumothorax or haemothorax and if present then drain.

Bleeding from superficial wound? Apply pressure to stop bleeding.

Circulation and

haemorrhage control

If in shock, is there internal bleeding? FAST scan (focused abdominal sonography in tra uma)

Consider X-rays of chest and pelvis Shock does not occur from isolated head injury be yond infancy

Insert two large venous cannulae

Take blood for full blood count, group and cross-match

Give crystalloid 20 ml/kg and reassess Seek surgical opinion, as likely to be ruptured liv er/spleen or fractured pelvis or long bone

Assess consciousness Secure airway

Provide respiratory support if Glasgow Coma Scale < 8 or at ‘P’ on AVPU scale

Disability

Assess pupil size and reactivity If unequal or concerns regarding head injury, then neu roprotect, arrange CT head, neurosurgical consult

Exposure and temperature control

Examine all parts of body Consider analgesia

Consider gastric tube (not nasal tube in head injury)

Remove all clothing

Avoid hypothermia and embarrassment!

Secondary survey (once condition stabilised)

Examine

Perform further investigations

Identify all injuries

Provide emergency treatment and definitive care

Figure 6.7 Management of the seriously injured child. Box 6.3 Indications for intu bation and mechanical ventilation in respiratory failure

• Severe respiratory distress

• Tiring due to excessive work of breathing (may be indicated by progressive hyp ercarbia)

• Progressive hypoxaemia

• Reduced conscious level

• Progressive neuromuscular weakness, e.g. Guillain–Barré syndrome

high-flow nasal cannula therapy has become available. This delivers high-flow humidified gas whilst providing some CPAP with a

known oxygen concentration. These techniques may be helpful in children with evolving respiratory failure.

Invasive ventilatory support

Endotracheal intubation and mechanical ventilation should be considered in any child with the clinical featur es listed in Box 6.3. While

worsening hypoxaemia or worsening hypercarbia may confirm the imminent need for ventilation, blood gas analysis is not a substitute

for clinical assessment.

Shock

Shock is present when the circulation is inadequate to meet the metabolic demands of the tissues. This is common in critically ill children

although the reasons are varied. The causes can be categorize d as in Fig. 6.4.

Why are children so susceptible to fluid loss?

Children normally require a much higher fluid intake per kilogram of body weigh t than adults. This is because they have a higher surface

area-to-volume ratio and a higher basal metabolic rate. Children may ther efore become dehydrated if:

• they are unable to take oral fluids

•

there are additional fluid losses due to fever, diarrhoea, or increased insensible losses (e.g. due to increased sweating or tachypnoea)

•

there is loss of the normal fluid-retaining mechanisms, e.g. burns, the permeable skin of premature infants, increased urinary losses or

capillary leak.

Case history 6.1

Bronchiolitis

Edward, aged 6 weeks, is admitted to hospital with difficulty feeding and cough. His sy mptoms started 3 days ago but he has gradually

deteriorated over the last 24 hours and is now struggling to breastfeed. E xamination in the children’s emergency department shows that

he has a temperature of 38.2°C, a respiratory rate of 40 breaths/minute, moderate chest rece ssion and a typical bronchiolitic cough. On

auscultation there are bilateral widespread crepitations and wheezing. Following admission, his oxygen saturation monitor keeps

alarming. He has worsening respiratory distress and a respiratory rate of 60 breaths/minute, wi th occasional apnoea. Blood gas analysis

demonstrates an uncompensated respiratory acidosis with a partial pressure of carbon dioxide (pCO

) of 12 kPa. Chest radiography (Fig.

6.8) is consistent with the diagnosis. He is transferred to the high dependency unit and started on CP AP. After 4 hours he is getting more

tired. A decision is made to intubate and ventilate him in the operating theatre suite. F ollowing this, he is transferred to the regional PICU

by the paediatric regional transport team. He makes a full recovery after 5 days of mechanical ventilation.

Figure 6.8 Chest radiograph in bronchiolitis, showing areas of atelectasis and collapse (right midzone) and hyperinflation (left lung). A

chest radiograph is not required in uncomplicated bronchiolitis.

Clinical features

The clinical features of shock are manifestations of compensatory physiological mechanis ms to maintain the circulation and the direct

effects of poor perfusion of tissues and organs (Box 6.4).

In early, compensated shock, the blood pressure is maintained by increased heart and respirator y rates, re-distribution of blood from

venous reserve volume, and diversion of blood flow from nonessential tissues such as the skin in the peri pheries, which become cold, to

the vital organs like the brain and heart. In shock due to dehydration, there is usually over 10% loss of body weig ht (see Ch. 14) and a

profound metabolic acidosis, which is compounded by f ailure to feed and drink while severely ill. After acute blood loss or redistribu tion

of blood volume because of infection, low blood pressure is a late feature. It signifies that 87 compensatory respo nses are failing.

Shock and fluid resuscitation and maintenance Box 6.4 Clinical sig ns of shock Early

(compensated) Tachypnoea

6Tachycardia

Decreased skin turgor Sunken eyes and fontanelle

Delayed capillary refill (>2 s)

Mottled, pale, cold skin Core–peripheral temperature gap (>4° C)

Decreased urinary output

Late

(decompensated)

Acidotic (Kussmaul) breathing

Bradycardia

Confusion/depressed cerebral state

Blue peripheries

Absent urine output Hypotension

0.9% saline or blood

x2 if necessary

(20 ml/kg)

Improvement No improvement

Correction of hypovolaemia Intensive care

Figure 6.9 Initial fluid resuscitation in shock.

Table 6.1 Calculating maintenance intravenous fluid requirement in children Body weight Firs t 10 kg

Fluid requirement/24 h 100 ml/kg

Second 10 kg 50 ml/kg

Subsequent kg 20 ml/kg

Example

7-kg infant: 100 × 7 = 700 ml/24 h

700/24 = 29.2 ml/h

18-kg child: (10 × 100) + (8 × 50) = 1400 ml/24 h

1400/24 = 58.3 ml/h

42-kg child: (10 × 1000) + (10 × 50) + (22 × 20) =

1940/24 = 80.8 ml/h

In late or uncompensated shock, compensatory mechanisms fail, blood pressure falls, and lactic acidosis inc reases. It is important to

recognize early compensated shock, as this is reversible, in contrast to uncompensated shock, which may be irreversible.

Management priorities

Fluid resuscitation

Rapid restoration of the intravascular circulating volume is the priority (Fig. 6.9). This will usually be with 0.9% saline, or blood if

following trauma. For shock from dehydration, the fluid deficit and maintenance and ongoing fluid losses need to be replaced.

Maintenance intravenous fluids vary according to body weight, as shown in Table 6.1.

Subsequent management

If there is no improvement following initial fluid 88 resuscitation or there is progressio n of shock and

respiratory failure, a paediatric intensive care unit should be involved and transfer arranged as the child may need:

• tracheal intubation and mechanical ventilation

• invasive monitoring of blood pressure

• inotropic support

•

correction of haematological, biochemical and metabolic derangements

• support for renal failure.

Sepsis

Bacteria may cause a focal infection or proliferate in the bloodstrea m, where the host response, which includes release of inflammatory

cytokines and activation of endothelial cells, may lead to sepsis. The most common organisms identified from blood culture in children in

the UK are coagulase-negative Staphylococcus (CoNS), Staphy lococcus aureus, non-pyogenic streptococci, and Streptococcus

pneumonia (pneumococcus). The Gram-negative organisms Neisseria Box 6.5 Clinical features of septicaemia

History

Fever

Poor feeding

Miserable, irritable, lethargy

History of focal

infection, e.g.

meningitis,

osteomyelitis,

gastroenteritis, cellulitis Predisposing

conditions, e.g. sickle cell disease,

immunodeficiency

Examination

Fever

Tachycardia,

tachypnoea, low

blood pressure

Purpuric rash

(meningococcal

septicaemia; Fig. 6.10) Shock

Multiorgan failure

Figure 6.10 The glass test for meningococcal purpura. Parents are advised to suspect

meningococcal disease if their child is febrile and has a rash that does not blanch w hen pressed under a glass. (Courtesy of Parviz

Habibi.)

Antibiotics

Antibiotic therapy must be started without delay. The choice depends on the child’s ag e and any predisposition to infection.

Fluids

Significant hypovolaemia is often present, owing to fluid maldistribution, which occu rs due to the release of vasoactive mediators by

host inflammatory and endothelial cells. There is loss of intravascular proteins and fluid, which may occur due to the development of

‘capillary leak’ caused by endothelial cell dysfunction. Circulating plasm a volume is lost into the interstitial fluid. Central venous

pressure monitoring and urinary catheterization may be required to guide the assessment of fluid balance. Capillary leak into the l ungs

causes pulmonary oedema, which may lead to respiratory failure, necessitating mechan ical ventilation.

Circulatory support

Myocardial dysfunction occurs as inflammatory cytokines and circulating toxins depress myocardial contractility. Inotropic support may

be required.

Disseminated intravascular coagulation

Abnormal blood clotting causes widespread microvascular thrombosis and consumption of clotting factors. If bleeding occurs, clotting

derangement should be corrected with fresh frozen plasma, cryoprecipit ate and platelet transfusions.

Summary

Sepsis

• Early recognition, antibiotic therapy and fluid resuscitation are life-saving.

• If very severe, the child may need admission to paediatric intensive care for managem ent of multiorgan failure.

meningitidis (meningococcus) and Escherichia coli are also still prevalent. However, H aemophilus influenzae, meningococcus and

pneumococcus have all declined since included in the immunization schedule. In neonates, ear ly-onset sepsis is most commonly caused

by group B Streptococcus and E. coli, whereas in lateonset sepsis CoNS predominates. Whilst CoNS is often isolated from blood culture

in association with indwelling appliances, it is a common skin contaminant.

Clinical features

See Box 6.5.

Management priorities

Children with septic shock, i.e. having organ failure, need to be rapidly stabilized and may require transfer to a paediatric intensive care

unit.

Anaphylaxis

Anaphylaxis is a severe, life-threatening, generalized or systemic hypersensitivity reaction. It is sudden in onset, progresses rapidly with

life-threatening airway and/or breathing and/or circulation problem . Skin and/ or mucosal signs of urticarial or angioedema are usually

but not always present. It has an incidence of one episode every 20 000 person years, and about 1 in 1000 cases is fatal. In childr en, 85%

of anaphylaxis is caused by food allergy; most are IgE-mediated reactions with sig nificant respiratory or cardiovascular compromise.

Other causes include insect stings, drugs, latex, exercise, inhalant allergens and idiopathic. While most paediatric anaphylaxis occurs in

children under 5 years of age, when food allergy is most prevalent, the majority of fatal anaph ylaxis occurs in adolescents with allergy to

nuts; asthma is an additional risk factor. The acute management of anaphylaxis relies o n early administra89 tion of adrenaline

(epinephrine; Fig. 6.11). Long-term

Anaphylactic reaction?

ABCDE

Diagnosis

Acute onset:

Airway: swelling, hoarseness, stridor

Breathing: tachypnoea, wheeze, cyanosis, SpO

<92% Circulation: pale, clammy, hypotension, drowsy, coma Skin:

urticaria/angioedema usually but not always present

Call for help

If breathing difficult – sit up

If hypotensive – supine and elevate legs If unconscious – recovery position BLS/ALS if necessary.

Neurological emergencies

Convulsive status epilepticus

Status epilepticus is a common paediatric emergency and is defined as continuous seizures lasting m ore than 30 minutes, or intermittent

clinical or electroencephalographic seizures lasting more than 30 minutes without full recovery of consciousness between seizures. It is

crucial to terminate seizures as soon as possible because seizures of a longer duration are associated with a worse ou tcome and can be

more treatment resistant. Therefore, after immediate primary assessment and resuscitation, the p riority is to stop the seizure by treating

any reversible causes such as hypoglycaemia or electrolyte disturbance and escalating treatment according to national guidelines as in

Fig. 6.12. The aim is to prevent any seizure which is ‘prolonged’, i.e. lasts 5 minutes or longer, from developing into convulsive status

epilepticus.

Adrenaline (epinephrine) 1:1000 (IM unless experienced with IV)

Additional treatment:

Establish airway

High-flow oxygen

IV fluid (20 ml/kg crystalloids) Chlorpheniramine (IM or slow IV) Hydrocortisone (IM or slow IV) Consider salbutamol if wheeze

Monitor:

Pulse oximetry ECG

Blood pressure

Figure 6.11 Emergency treatment of anaphylaxis. (Adapted from Resuscitation Council (UK). Guidelines on Paediatric Life Support,

London 2015, Resuscitation Council.)

management involves detailed strategies and training for allergen avoidance, a wr itten management plan with instructions for the

treatment of allergic reactions, and the provision of an adrenaline auto-injector(s). In some cases, such as insect sting anaphylaxis,

allergen immunotherapy may be effective in preventing future episodes. The experience of an anaphylac tic reaction can have a significant

psychological impact on the child and family.

Summary

Anaphylaxis in children/adolescents

• Reaction is mainly to foods – about 1 in 1000 episodes is fatal.

• Risk factors for fatal outcome include adolescent age group, coexistent asthm a, and nut allergy.

• Acute management is ABCDE and early 90 administration of intramuscular adrenaline.

Other encephalopathic illness

Children can present with coma, psychosis, confusion, and nonconvulsive status epilepticus. Where there is an altered conscious level,

this can be rapidly assessed using either the rapid assessment of level of consciousne ss (Box 6.1) or Glasgow Coma Scale (Table 6.2). In

all cases primary assessment follows an airway, breathing, circulation, disability, exposure (AB CDE) approach (Figs 6.13 and 6.14).

For both convulsive status epilepticus and other encephalopathic illnesses, the history and secondary assessment need to focus on

identification of the cause (Table 6.3). Early treatment of reversible causes, especially hypoglycaemia a nd infection, is paramount.

Intracranial mass lesions may require neurosurgical intervention, although structural lesions are l ess common in children than adults.

Ongoing treatment of neurological emergencies, in particular where there is raised intracranial pressure, includes the use of

neuroprotective strategies to reduce secondary brain injury. These are treated with:

•

the head positioned midline and tilted up 20° to 30°

• fluid restriction with isotonic fluids

•

intubation and ventilation if Glasgow Coma Scale score is less than 9

•

if intubated, maintain normocapnia [partial pressure of carbon dioxide in arterial blo od (paCO

) 4.5–5.3 kPa]

•

osmotic diuretics (e.g. mannitol) to reduce raised intracranial pressure

•

maintain high normal blood pressure

in order to maintain cerebral perfusion

pressure

• maintain normothermia

•

hypotension or hypoxaemia must be avoided during treatment.

Time from onset

Management protocol for status epilepticus

Airway

0 min

High-flow oxygen Don’t ever forget glucose

Yes or can be

established quickly

Vascular

Access?

5 min Lorazepam Step 1 IV/IO

Midazolam (buccal) or

Diazepam (rectal)

Lorazepam 15 min IV/IO Step 2 Call for senior help

Prepare phenytoin Reconfirm it is an epileptic seizure

Senior help is now needed

25 min

Seek anaesthetic/ICU advice

Step 3

Consider rectal paraldehyde Phenytoin IV/IO over 20 min

Or if already on phenytoin give phenobarbitone IV/IO over 5 min Anaesthetist MUST b e present

45 min Rapid Sequence Induction of anaesthesia with thiopental Step 4 (thiopentone)

Figure 6.12 Management protocol for status epilepticus. (Adapted from Advanced Life Support Group. 2014. Advanced Paediatric Life

Support. The Practical Approach, 5th edition Blackwell BMJ Books, London, with perm ission.)

91 Table 6.2 Glasgow coma scale, incorporating children’s coma scale

Eye opening

Best verbal response

Best motor response

Glasgow coma scale Response

Spontaneous

To sound

To pressure

None

Oriented

Confused

Words

Sounds

None

Obeys commands

Localising

Normal flexion

Abnormal flexion

Extension

None

Children’s coma scale (<4 years)

Response Score

Spontaneous 4

To sound 3

To pain 2

No response 1

Talks normally, interacts 5

Words 4

Vocal sounds 3

Cries 2

None 1

Obeys commsnds 6

Localises pain 5

Flexion to pain 4

Abnormal flexion (decorticate posture) 3

Abnormal extension (decerebrate posture) 2

No response 1

A score of <8 out of 15 means that the child’s airway is at risk and will need to be main tained.

Initial assessment and management of coma

Primary assessment and

resuscitation

A irway – is it secure?

Breathing – is respiratory effort sufficient?

Circulation – treat shock

Disability – check blood glucose

– AVPU or Glasgow Coma Scale

Exposure – e.g. look for meningococcal purpuric rash

Examination

• Is there raised intracranial pressure – abnormal breathing, posture, pupils (Fig . 6.11), fundi (papilloedema or retinal haemorrhages)?

• Bradycardia and hypertension suggest impending brain stem herniation

Secondary assessment and

emergency treatment

Treat the treatable:

•

• hypoglycaemia

poisoning

diabetes mellitus

septicaemia/meningitis herpes simplex encephalitis

Intubate and ventilate if necessary, transfer to paediatric/neurosurgical intensive care unit

Figure 6.13 Initial assessment and management of coma.

Pinpoint, fixed Opiates/barbiturates Pontine lesion

Fixed, dilated

Severe hypoxia

During/post-seizures Anticholinergic drugs Hypothermia

Unilateral dilated pupil Expanding ipsilateral lesion Tentorial herniation

Third nerve lesion

Seizures

Figure 6.14 Pupillary signs in coma.

Table 6.3 Causes, history and examination, and investigation of encephalopathy Cause

Infection

Meningitis or

meningoencephalitis

History and examination

Fever

Irritability, lethargy, drowsiness

Poor feeding, vomiting

Rash, e.g. meningococcal purpura

Seizures

Neck stiffness and pain; bulging fontanelle Overseas travel

Status epilepticus or postictal

Trauma – accidental/ nonaccidental

Intracranial tumour or haemorrhage/ infarct/abscess

History of seizures

Neurocutaneous lesions on the skin Developmental delay

Ongoing seizure activity, e.g. abnormal eye movements

Focal neurological signs

History of road traffic accident, fall, etc. Bruising, haemorrhage

Fractures – cervical spine, etc.

Focal neurology

Retinal haemorrhages

Symptoms or signs of raised intracranial pressure

Focal neurological signs, e.g. squint

Diagnostic investigations

Full blood count

Culture of blood, urine, infected sites, and cerebrospinal fluid (unless contraindicated) for b acteria and viruses

Acute-phase reactant

Rapid bacterial antigen/polymerase chain reaction tests for organisms Blood glucose

Electrolytes – sodium, potassium, calcium, and magnesium

Drug levels if on anticonvulsants EEG

CT scan

Radiological – plain X-ray or CT/MRI scans

Cranial CT/MRI scan

Haemorrhage – coagulation screen, screen for procoagulant disorders (protein C/S def iciency)

Metabolic

1. Diabetes mellitus Previously diagnosed diabetes mellitus Diabetic ketoacidosis

2. Hypoglycaemia

3. Inborn errors of metabolism

4. Hepatic failure

5. Acute renal failure Poisoning

Shock

Hypertension

Respiratory failure

Any acutely ill child

Known diabetes mellitus

Sudden onset of coma

Previous history of loss of consciousness Sudden collapse

Consanguinity, death or illness of siblings Developmental delay

Hepatomegaly

Jaundice

Abnormal bleeding

Oliguria, hypertension

Accidental – poison usually identified Deliberate – tablets may be found, also illicit drugs and al cohol

Septicaemia

Dehydration

Cardiac failure

Symptoms and signs of raised intracranial pressure

Fundoscopy – hypertensive changes Severe respiratory distress, poor

respiratory effort, apnoea

Blood glucose, plasma electrolytes Urine for glucose and ketones Blood gas analysis

Low blood glucose

Blood glucose

Blood gas analysis

Blood ammonia, lactate

Urine amino and organic acids Plasma amino acids

Abnormal liver function tests Prolonged prothrombin time

Abnormal creatinine

Toxicology screen

Plasma level for paracetamol and salicylates

Full blood count and cultures Urea, electrolytes, and blood gas

Left ventricular hypertrophy on ECG or

echocardiography

Creatinine and electrolytes

Chest X-ray

Arterial blood gas – hypoxia,

hypercarbia

Apparent

life-threatening events

These are events in an infant where there is a sudden, brief and often frightening change in condition in an infant who was previously

well and appears well imme

diately afterwards. These have been called Apparent Life Threatening Events (ALTE). Th e American Academy of Pediatrics has

recommended this name be changed to Brief Resolved Unexplained Events in In fants (BRUE) to describe the commonest situation,

where a sudden, brief and now resolved episode is observed in which there was one or mo re of:

• cyanosis or pallor

• absent, decreased or irregular breathing

• change in tone (increased or decreased)

• altered level of responsiveness.

Additional features are:

•

no concerning features on detailed history, including a social history

• normal physical examination.

These babies require a period of observation and monitoring of vital signs. An ECG, a perna sal swab for pertussis and brief monitoring

with continuous pulse oximetry are usually performed. Caregivers will need expla nation about the nature of these events and basic life

support training offered. Follow-up needs to be arranged.

If the clinical features are not characteristic, more detailed assessment and investigation are indicated to identify an unde rlying disorder.

Risk factors for an underlying disorder include:

• age <60 days or gestation at birth <32 weeks

• duration of event > 1 min

• repeat event

•

cardiopulmonary resuscitation (CPR) given by trained medical provider

•

concerning features in history e.g. family history of cardiac death, child protection conce rns, cough or breathing problems suggesting

respiratory infection or abnormality, vomiting suggestive of gastro-oesophageal reflux

•

Abnormalities identified on physical examination e.g. fever, respiratory distress.

instances of sudden death in a previously well infant, no cause is identified even a fter a detailed autopsy, and the death is classified as

sudden infant death syndrome (SIDS). The vast majority of such deaths, even when occurring more than once in the same family, are due

to natural but unexplained causes. Rarely, the death may be due to suffocation or other for ms of nonaccidental injury.

Sudden infant death syndrome

The peak age range is 2–4 months of age ( Fig. 6.15). Epidemiological studies show risk factors in the infan t, parents and immediate

environment (Fig. 6.16). However, the main risk factor is lying the baby to sleep in the prone positio n. The incidence of SIDS has fallen

dramatically in the UK since the national ‘Back to Sleep’ campaign (Fig. 6.17). Incorporating additional risk factors from analysis of

epidemiological data, parents are now advised that:

•

infants should be put to sleep on their back (not their front or side)

•

overheating by heavy wrapping and high room temperature should be avoided .

The head should be uncovered and the

blanket tucked in no higher than their

shoulders

•

infants should be placed in the ‘feet to foot’ position, i.e. feet at foot of cot

• no one should smoke near the infant

•

parents should seek medical advice promptly if their infant becomes unwell

•

parents should have the baby in their bedroom for the first 6 months of life

•

parents should avoid bringing the baby into their bed when they are tired or have taken alcoho l, sedative medicines, or drugs

•

parents should avoid sleeping with their infant on a sofa, settee, or armchair

• if possible, the infant should be breastfed.

Unexpected death of a child

Fortunately, the unexpected death of a child is uncommon. Most are due to accidents, m ainly road traffic accidents, but during infancy

the risk of death is four times greater than at any other age in childhood. Deaths that occur suddenly an d unexpectedly in infancy are

known as sudden unexpected death in infancy (SUDI). There were about 270 such deaths in the UK in 2013. In some, a previously

undiagnosed congenital abnormality, e.g. congenital heart disease, will be fo und at autopsy or

94 another condition, e.g. inborn error of metabolism, is identified. However, afte r 1 month of age, in most

0 1 2 3 4 5 6 7 8 9 10 11 12 Age (mon)

Figure 6.15 Age distribution of SIDS. (Data from Fleming P, Blair P, Bacon C, B erry PJ: Sudden Unexpected Deaths in Infancy,

London, 2000, The Stationery Office, with permission.)

Case history 6.2

Sudden infant death syndrome

Poppy, a previously well 9-week-old baby, is found to be still and lifeless by her mother when waking her for a feed in the morning. The

previous night she had fed well at midnight although she had cory zal symptoms the previous day. An ambulance is called and Poppy is

rushed to hospital. Mask ventilation and cardiac compressions are perform ed by the paramedic ambulance crew.

The team in the children’s emergency department is prepared for her arrival. A member of the nursing team is assigned to accompany

her mother to a separate room. After 20 minutes of cardiopulmonar y resuscitation, she still has no signs of life. The consultant

paediatrician explains to her mother that the team has tried everything possible but that Poppy has died.

Poppy’s partner had been called to come directly to the hospital. The paediatr ician enters full details into the medical record of the

medical treatment given and findings on thorough physical examination, including that there are no signs of external injury. As with any

unexpected death, the police have been informed and a member of the police child protection team has arrived. The paediatrician,

accompanied by the member of the child protection team, explains to the parents what has happe ned and takes a detailed history from

them. After the discussion, the consultant paediatrician informs the local designated paediatrician for child death and the coro ner. The

coroner gives permission for postmortem samples and blood tests to be taken and arranges for the autopsy to be done by a paediatric

pathologist.

The parents are offered the opportunity to see and hold their baby and to take photographs and gather me mentoes. They are reassured

that involvement of the police and social services is standard practice. Follow-up is arrang ed with the paediatrician. Bereavement support

is offered.

The infant

• Age 1–6 months

• Low birthweight and preterm

(risk 3× normal birthweight)

• Sex (boys 60%)

• Appeared ill in last 24 h

SIDS

The environment

• The infant sleeps lying prone

• Co-sleeping

• The infant is overheated from high room

temperature and too may clothes and covers, particularly when ill

• Infant pillow use

• Infant swaddling

The parents

• Low income

• No maternal educational qualifications

• Poor or overcrowded housing

• Maternal age <21 years

• High maternal parity

• Maternal smoking during pregnancy

• Parental smoking after baby’s birth

• Maternal alcohol or drug consumption

Figure 6.16 Risk factors associated with SIDS. Presence of several risk factors increase s the risk. (Data from Fleming P, Blair P, Bacon

C, Berry PJ: Sudden Unexpected Deaths in Infancy, London, 2000, The Stationery Office.)

1.6

Back to Sleep campaign

1.2

0.8

0.4

1990 1992 1994 1996 1998

Year

2000 2002 2004 2008

Figure 6.17 Decline in the number of deaths from SIDS in the UK from 1.9/1 000 live births in 1989 to 0.31/1000 in 2012.

Following a sudden unexpected death in infancy:

• A detailed history and thorough physical

examination should be performed by a paediatrician.

• The police, local designated paediatrician for child death and the coroner ne ed to be informed.

• Parents and family should be offered the opportunity to see and hold the baby and take photographs and gather mementoes.

• Bereavement support should be offered and follow-up arranged.

Summary

Sudden infant death syndrome

• SIDS is the most common cause of death in children aged 1 month to 1 year.

• The peak age for the occurrence of SIDS is 2–4 months.

• SIDS has been dramatically reduced by lying babies on their back to sleep.

Further reading

Advanced Life Support Group: Advanced Paediatric Life Support. A Practical Approa ch, ed 6, 2016, John Wiley & Sons.

Goldman A, Hain R, Lieben S: The Oxford Textbook of Palliative Care in C hildren, ed 2, Oxford, 2011, Oxford University Press.

Goldstein B, Giroir B, Randolph A: Internati onal Consensus Conference on Pediatric Sepsis:

International pediatric sepsis consensus conference: Definitions for sepsis and organ dysfun ction in pediatrics. Pediatric Critical Care

Medicine 6:2–8, 2005.

Acknowledgements

We would like to acknowledge contributors to this

chapter in previous editions, whose work we have drawn on: Nigel Curtis (1st Ed ition), Nigel Klein (1st Edition), Simon Nadel (2nd

Edition). Rob Tasker (3rd Edition), Shruti Agrawal (4th Edition).

Tieder JS, Bonkowsky JL, Etzel RA, et al: Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and

Evaluation of Lower-Risk Infants. Pediatrics 137(5):e20160590, 2016.

Websites (Accessed November 2016)

Resuscitation Council (UK): Guidelines on Paediatric Life Support, London, 2015, Re suscitation Council. https://www.resus.org.uk

Accidents and poisoning

Accidents 97 Poisoning 103

Features of accidents and poisoning in children are:

•

accidental injury is the most common reason for children and young people to s eek emergency healthcare

•

accidents are the most common cause of death in children over 1 year of age worldwide and the majority are preventable

•

poisoning is a common avoidable cause of harm to children

•

the features of poisoning are a demonstration of pharmacology in action.

Children need a safe, healthy, and nurturing environment to achieve their full potential. Acc idents and

poisoning are classified as external causes of morbidity and mortality as they are entire ly dependent on

the presence of an extrinsic environmental factor,

for example, a motor vehicle or a swimming pool.

Although the provision of a completely risk-free

environment is not possible (or desirable), children

and young people should be protected from external

causes of serious harm. This is primarily the responsibility of parents, fam ilies, and carers, but all members

Accidents

Accidental injuries are extremely common in childhood. Approximately 2 million childre n and young people attend an emergency

department with an accidental injury each year in the UK. Fortunately, the ma jority suffer only minor and temporary damage; however,

for a small but significant proportion the consequences can be life changing. The fatal external causes in England and Wales for children

aged 1-year to 14-years are shown in Fig. 7.2. Survivors of significant injuries may suffer long-te rm disability and disfigurement and

psychological harm.

0 100 200 300 400 500 0 50 100 150

Malignant diseases (24%)

Injuries and poisoning (14%)

Road

traffic accidents Suffocation

Neurological disorders (14%)

Drowning

Congenital abnormalities (11%)

Smoke and fire

Respiratory disorders (9%)

Poisoning

Infectious (7%)

Falls

Endocrine and metabolic (6%)

Impact injury

Other (15%)

Electrocution

Total deaths 1029 Other

Figure 7.1 Cause of death in children aged 1 year to 15 years in England and Wa les in 2013 (Data from Office of National Statistics,

2015).

of society, including health and education professionals, have important roles to play in advocating and helping to organize safe

environments for children. Although external causes are the leading cause of death in 1-year-old to 14-year-old children worldwide and

until recently in the UK, they have declined sufficiently to now be the second most frequent cause, after malignant diseases, in the UK

(Fig. 7.1).

Total deaths 223

Figure 7.2 External causes of death in children aged 1 year to 14 years in Eng land and Wales in 2010. Accidents are the second most

common cause of death in children over 1 year of age in England and Wale s

Primary accident prevention strategies typically tackle three main factors:

•

Different types of accidents are prevalent at different ages, relating to the child’s development. Babies and preschool children sustain

most accidental injuries at

home as this is where they spend most of their time. These injuries result from their natural inquisitiven ess combined with lack of

appreciation of potential danger and poor coordination. Typical injuries are falls down steps and trapping fingers in doors. By school

age, accidents are more likely to occur outside the home; in particular, injuries from road traffic collisions are the leading cause of

serious injury, accounting for over half of accidental deaths in children aged 5–14 years. The majority of these childre n are pedestrians.

Older children and young people may indulge in risk-taking behaviour and underestimate the magnitude of the associated danger.

Accident prevention

Accident prevention, or more correctly, injury control, is an important public h ealth issue. Primary prevention strategies relate to the

avoidance of the event causing the injury in the first place. Secondary prevention strategie s include the provision of appropriate

healthcare services for the treatment of the injured children – for example, specialized tra uma and burn services, with follow-on tailored

rehabilitation.

Head and neck injuries

Head injury is common in children. Fortunately, in the vast majority it is only minor and a full recovery with no long-term adverse

effects can be expected. However, it is also the most frequent cause of d eath and serious morbidity in children who have been injured

(Fig. 7.4). Initial assessment is therefore directed at identifying the small proportion of children who are likely to have sustained an

intracranial injury, and thus need neuroimaging. This assessment is based on the histor y and neurological condition of the patient.

Various clinical

Stairguards Experienced guides

supervising climbing, walking, or canoeing expeditions

Close refereeing of scrums and mauls in rugby

Head protection in

horse riding and cricket

Window safety catches

Correctly fitted car seats Drivers' legal responsibility

that children use them Window

falls

Falls down stairs Sports

injuries Car passenger

accidents

Swimming pool

Bicycle drowning

Accident prevention

accidents

Helmets Surrounding fence

Flame-resistant materials Fire guards

•

modification of product design, e.g. for road traffic accidents, vehicle child restraint design, and legislation change

alteration of the environment, e.g. reduction in speed limits or road layout design

education of children and their carers, e.g. public service announcements and school safety campaigns.

Specific examples of these are shown in Fig. 7.3. Healthcare professionals are well placed to deliver anticipator y guidance as well as to

identify and publicize risk factors. Implementation is usually more successful when supported by legislative change, rather than

education alone.

The number of deaths of children in the UK due to accidental injury has declin ed steadily over the last 25 years

Bedclothes and Pedestrian road furniture fires traffic and play Accidental

poisoning

Glass House

accidents

Scalds injuries

fires

Child-resistant containers Lockable cabinets Run cold

water first

Set thermostat to 40°C max Thermostatic mixing valves

Laminated

Smoke

safety

and carbon glass

monoxide

alarms Redesigned roads in

residential areas:

give priority to pedestrians separate off the traffic reduce traffic speed with speed bumps

walking bus schemes – safely walked to school

Provide safe play areas for children

98 Figure 7.3 Examples of accident prevention.

Head injuries in children

Pathogenesis

Primary damage

Injury to neural tissue:

• focal cerebral contusions

and lacerations

• diffuse axonal injury

Injury to blood vessels:

• Extradural, subdural,

subarachnoid haemorrhage Penetrating injury

Secondary damage Cerebral oedema Hypotension

Hypoxia

Seizures

Hypoglycaemia Infection (later)

Skull Head injury Dura mater still applied to skull

Extradural haemorrhage (arterial origin)

Initial

assessment:

• Airway

• Breathing

• Circulation

• Disability:

conscious level, pupils

• Exposure Dura mater peeled from

skull Subdural

haemorrhage (venous origin)

Initial assessment and management

Is the child

(any of):

• Unresponsive?

No• Responsive

only to pain?

• Breathing

inadequately?

Yes

• Intubate and

ventilate

• Urgent CT scan

• Urgent neurosurgical and intensive care referral

Are any of the

following present?

• Suspicion of nonNo

accidental injury

• Post-traumatic

seizure

• Glasgow coma

score <14 initially

or <15 2 h

after injury

• Suspected open or

depressed skull

fracture

• Sign of basal skull

fracture

(haemotympanum,

‘panda eyes’, Battle

sign, CSF leak from

nose/ears

• Focal neurological

signs

• <1-y old with

bruise or swelling

>5 cm on the head

Yes

Are any of

the following

present? No

• Witnessed loss

of consciousness

>5 min

• Abnormal

drowsiness

• 3 or more discrete

episodes of

vomiting

• Dangerous

mechanism of

injury (high

speed road

traffic collision;

fall from >3 m

height)

• Amnesia lasting

>5 min

Yes only 1 present No imaging required. Use clinical

judgment to determine if further

observation is required

Yes >1 present Urgent CT scan

• Admit and observe for at least 6 h

• CT scan if further concerns

Figure 7.4 Head injuries in children. Pathogenesis, site of extradural and subdural haemorrhages and initial

assessment and

management (based on NICE guideline 2014).

guidelines have been developed to help determine which children need brain imaging (Fig. 7.4 and Case history 7.1). These d ecisions

tend to be highly sensitive but not highly specific, resulting in many normal CT scans for every scan that iden tifies a significant injury.

If an intracranial injury is identified, the aim of management is to avoid secondary damage to the brain. This is achieved by maintaining

the blood supply to

the brain while minimizing the damage from raised intracranial pressure. This may require surgical evacuation of intracranial

haemorrhage and/or intubation and ventilation to allow control of blood pressure and blood carbon dioxide levels, both of whic h affect

cerebral perfusion.

In infants with unfused skull sutures, significant bleeding into the brain and surrounding space may occur leading to shock before

neurological symptoms and signs appear. Significant head injury in young infants must always lead to consideration of the possibility of

deliberately inflicted injury.

Children with severe traumatic brain injury can make a good physical recovery though the period o f rehabilitation may be long.

Cognitive, behavioural, and mental health problems are common in these childre n, however, and specialist follow-up is required for early

identification and intervention to try to ameliorate the effect of these problems on daily life.

Neck injury resulting in spinal cord damage is very rare in children and is usually only associated with significant trauma associated with

high-speed road traffic collisions. The most common neck injury is fracture of the up per two cervical vertebrae. The elasticity of the

cervical spine can also allow damage to the spinal cord without injury to the bony structure s, i.e. spinal cord injury without radiologic

abnormality.

Internal injuries

Internal injuries in children are usually associated with severe trauma due to road traffic collisions and falls from signific ant heights. In

particular, young children have less fat and a more elastic skeleton protecting tightly packed internal o rgans. This means that impact

force is distributed widely through the body, resulting in a greater possibility of m ultisystem trauma compared with adolescents or adults.

Abdominal injuries are typically caused by blunt trauma due to seat belt restra ints or bicycle handlebar injuries. Liver and spleen rupture

may occur and become apparent rapidly, while bowel and pancreatic injuries may take longer to become apparent. Close observation and

imaging are necessary. Focused abdominal sonography in a trauma scan can be useful but must be combined with clinical judgement.

Contained splenic and hepatic haematomas can be managed conservatively but rapid access to pa ediatric surgery must be available

immediately in the event of clinical deterioration.

Chest injuries, including pneumothorax and haemopericardium, are also typically due to blunt trauma. The pliable rib cage in children

may allow significant injury to underlying organs with little external evidence. The re

100 must be a high index of suspicion for these injuries in the event of a significant m echanism of injury.

Case history 7.1

Head injury

Tom, a 3-year-old boy, is being carried on his uncle’s shoulders when h e falls 6 feet to the ground, banging his head on the concrete

floor. He cries immediately but does not lose consciousness. He is taken to the emergency department where he vomits once. Clinical

examination is normal apart from a 4-cm diameter firm swelling over his left temple. He is discharged home with advice to return if he:

• vomits repeatedly

• complains of a worsening headache

• becomes abnormally sleepy

• behaves abnormally

• develops weakness of one side of his body.

Tom remains well overnight but the following morning begins to vomit again and b ecomes lethargic. He is taken back to the emergency

department where a CT brain scan reveals an extradural haematoma (Fig. 7.5). Tom’s haemato ma is evacuated by the neurosurgeons and

he makes an uneventful recovery.

This illustrates how children with a significant head injury may appear normal at initial presentation. It is essential to provide parents and

caregivers with safety net advice to ensure they know to return should symptoms evolve.

Figure 7.5 CT scan of head showing a left extradural haemorrhage (arrow) .

Summary

Accidental head injury management:

• no symptoms or signs and benign mechanism of injury – discharge home with written advice

• minor symptoms or dangerous mechanism of injury – monitor for evolution of s ymptoms

• significant or progressive symptoms and signs – resuscitate (if necessary), CT scan , and neurosurgical referral as appropriate.

Choking, suffocation and

strangulation

Choking is particularly common in young children, who frequently put things in their mouth s and lack the oromotor skills to avoid

choking on them or inhaling them. In addition, their airway diameter is small and more r eadily occluded than in adolescents and adults.

Food is the most common cause of non-fatal choking, followed by toys. The emergency ma nagement of the choking child is outlined in

Fig. 7.6 and 7.7.

Children may strangle themselves accidentally when clothing or bedding gets caught on furniture, particularly young children in cots.

Following some tragic incidents, the possibility of strangling on blind and curtain cords has been the subject of a number of public

information campaigns.

Drowning

Drowning, the respiratory impairment produced by submersion or immersion in liquid, is a significant cause of accidental death in

children. Babies and toddlers tend to drown in baths, paddling pools, or garden ponds. Older children get into difficulty in canals, lakes,

and the sea. Once submerged, asphyxiation occurs with or without aspirati on of water. Up to 30% of fatalities can be avoided by skilled

on-scene resuscitation. If the water is cold, the resulting hypothermia can have a protective effect and, even in the presence of fixed

The choking child

Management of the choking child Assess severity

Figure 7.6 Management of the choking child from an inhaled foreign body.

Severe airway obstruction (ineffective cough)

Mild airway obstruction (effective cough)

Unconscious Start CPR

Conscious

Child:

• 5 abdominal thrusts Infant:

• 5 back blows

• 5 chest thrusts

Encourage to cough Continue to check for deterioration until

obstruction cleared or cough becomes effective

(b)

Figure 7.7 (a) Abdominal thrusts (Heimlich manoeuvre) in older children – place a fist against the child’s upper abdomen in the midline

and grasp with the other hand. Pull backwards and upwards to expel air from the lung s. In infants, back blows (b) and chest thrusts (c)

are recommended, avoiding abdominal thrusts due to the risk of injury to the l iver and spleen. 101 dilated pupils, resuscitation should

continue until the

child is warmed up as recovery may still be possible. A A

Burns and scalds

Burns and scalds are relatively common in children. This relates to the natural inquisitiveness and lack of sense of danger in young

children and the risk-taking

behaviour of older children and young people. They are a significant cause of death, although typically deaths in house fires are due to

asphyxiation from gas and smoke inhalation rather than the thermal injury. Inhalation of superheated smoke or steam may also cause

significant airway swelling. This can occur when steam has been inhaled directly from the sp out of a kettle or teapot. Injuries from house

fires may also be complicated by serious injury as a result of, for example, f alls from a height during escape.

Assessment

Immediate assessment of major burns comprises:

•

airway and breathing – in particular, check for evidence of airway burns:

– soot in the nasal and oral cavities

– cough, hoarseness, or stridor

– coughing up black sputum

– breathing and/or swallowing difficulty – blistering around or in the mouth

– scorched eyebrows or hair

•

early intubation if there is evolving airway swelling; intubation may become

impossible with progressive obstruction of the airway

•

circulation:

–

early circulatory compromise is rarely due to the burn injury and other sources o f fluid loss should be sort (e.g. major haemorrhage)

–

in electrical burns, an ECG should be obtained.

Further assessment and initial management of burns:

•

burn first aid:

–

cool the area with running water for up to 20 minutes but avoid hypothermia

– chemical burns should be copiously irrigated

–

plastic (cling film) wraps can be used after cooling to limit evaporation from the burnt ar ea

–

pain relief should be provided immediately; intranasal opiates are very useful

•

estimation of burn surface area (Fig. 7.8): – a burn diagram should be used

–

as a rough measure, an area the size of the child’s palm represents 1% body surface area

–

body surface area involvement determines need for admission and fluid managemen t

–

burn depth assessment should be attempted (Fig. 7.9) but is often difficult and unreliable im mediately after the event.

Further management

This should be directed at:

•

relieving pain – assess with pain score; intravenous 102 analgesia such as morphine or keta mine is often

required on an ongoing basis

2 2 2 2 13 13 1

2 2 2 2

2 11 2 2 2 2

B B B B

C C C C

3 1 3 1 3 1 3 4 4 4 4

Surface area at

Area

1 year 5 years 10 years 15 years

indicated

A 8.5 6.5 5.5 4.5 B 3.25 4.0 4.5 4.5 C 2.5 2.75 3.0 3.25

Figure 7.8 Lund and Browder chart for accurate assessment of body surface area.

•

maintaining circulation – intravenous fluids are required if over 10% of the body surface are a is affected. Urine output is the best

measure to assess the adequacy of fluid replacement

•

provision of wound care:

–

superficial burns with erythema only are treated with simple exposure

–

small superficial partial thickness burns can be cleaned and dressed. They should heal sponta neously, but require review

–

partial thickness burns covering over 5% of the body surface area, deeper partial thickness burns, and full thickness burns should be

reviewed by a specialist burns service

–

deeper burns will often require débridement and skin grafting to ensure a good cosmetic outcome

–

all burns to the face, ears, eyes, hands, feet, genitalia, perineum, or a major jo int, even if less than 5% to 10% should also be referred to a

specialist burns service

–

signs of infection should be monitored and treated if found, as there is a risk of significant invasive infection.

•

for all burns, the possibility of inflicted injury must be considered (see Fig. 8.2b)

•

psychological support should be provided if required, as psychological sequelae of severe burns are often marked and long lasting.

The depth of burns

Superficial Partial thickness (superficial) Partial thickness (deep)

Full

thickness

Epidermis

Dermis

Subcutaneous tissue

Depth Superficial –

limited to epidermis Partial thickness (superficial)

Partial thickness (deep)

Full thickness

Possible cause Sunburn, minor scald

Scald

Scald, brief contact with flame

Significant flame contact

Appearance Dry, charred,

white

Dry and

erythematous Moist,

erythematous, blistered

Moist with white slough,

erythematous, mottled

Pain sensation Painful Painful Painless Painless

Healing Rapid – 1 week 1–3 weeks 3–4 weeks –

often requires grafting

Needs skin

grafting to heal

Figure 7.9 Burn depth assessment.

Summary

In burn management:

• cool the burn, not the child

• burnt children require effective analgesia

• refer deep and/or extensive burns or burns to

sites where scarring would be particularly troublesome or disfiguring to specialist b urns services.

Poisoning

Poisoning in children may be:

• accidental – common in young children

•

due to deliberate self-harm or experimentation with recreational substances – by adolesc ents and young people

•

iatrogenic – as a result of drug errors occasionally made by health professionals

•

intentional – by parents or carers, though this is rare.

Accidental poisoning usually occurs when young children are found by parents or c arers either playing with tablets or household or

garden substances or with some in their mouths. The peak age is 30 months, and typically ex posure occurs in the child’s home. Serious

harm is uncommon as many common household substances and medications are of low toxicity, and children usually ingest only small

amounts. The relative toxicity of some common medicines and household and garden substances is shown in Table 7.1; a small number

of medicines are potentially fatal to young children even in small doses. The most common causative agents vary from countr y to country

due to differing availability of medications over the counter, and a variation in rural and urban 103 lifestyles.

Table 7.1 Relative toxicity following ingestion of some common medicines and household and garden substances Toxicity Medicines

Low Oral contraceptives, most antibiotics, topical hydrocortisone

High Opioids, beta-blockers, tricyclic antidepressants, oral

hypoglycaemics, paracetamol, digoxin, iron, salicylates

Household products

Liquid soap, lipstick,

washing-up liquid, fish food, water-based glue and paint Strong bleach, concentrated ove n cleaner, liquid nicotine, ethylene glycol

(antifreeze), petroleum distillates

In the garden

Animal faeces, slugs, geraniums, compost

Laburnum, death cap mushroom, yew, foxglove, organophosphorus

pesticides, kerosene

There has been a marked reduction in the incidence of severe poisoning from accidental ingestio n by young children. Reasons for this

include:

•

the introduction of child-resistant containers for many medicines and household produ cts and use of blister packs for medicines

•

reduction in the number of tablets available per pack in analgesics bought over the counter. Ad olescents attempting self-harm also

typically ingest

medications commonly found in their environment –

paracetamol and ibuprofen, with their wide over-thecounter availability, are the most commonly ingested

substances. However, they are likely to have ingested

much larger quantities of tablets than young children

and are therefore more likely to suffer significant

toxicological effects.

Investigation and management

An approach to the investigation and management of the potentially poisoned patient is outlined in Fig. 7.10. Details of some of the more

commonly ingested poisons with their specific management are detailed in Table 7.2. Usually, the identity of the ingested substance is

known. Occasionally, poisoning is suspected but the substance is unknown; clinical sig ns may then help to identify the class of causative

agent (Table 7.3 and Case history 7.2). These can be useful to aid further investigation and treatment.

All older children and young people who have attempted to deliberately harm themselves must be assessed for risk of a repeated attempt,

irrespective of the toxicity of the ingested substance. The risk of recurrence is incr eased by a number of factors, including ongoing

thoughts of self-harm or suicide, a lack of regret, evidence of planning, e.g. leaving a note, an d a lack of protective social factors. The

social circumstances of young people who inadvertently poison themselves as a result of experimentation with illicit drugs or alcohol

should also be explored, with onward referral to substance misuse services, where appropria te.

Young children who have been exposed to agents of low toxicity and are asymptom atic can typically be dis104 charged with advice to

return if symptoms develop. The circumstances surrounding the exposure need to be considered to determine if there are social issues

such as inadequate supervision that need to be addressed.

Chronic environmental poisoning

Young children are a high risk group for chronic environmental poisoning, because their exposure potentially occurs when they are most

physiologically susceptible. Their engagement in frequent hand-tomouth activities during pla y and meals leads to ingestion of more

contaminants in dust and dirt than adults. Their small body size makes them more susceptible to doses that would not harm an adult and

their developing brains are at greater risk of permanent damage due to neurotoxic effects of exp osure.

Lead poisoning is one of the most important chronic environmental toxins affecting childre n worldwide. Although it is now uncommon

in the UK and other developed countries, in some developing countries contamination of water supplies and the home environment by

mining processes and factories remains a significant problem. The symptoms of chronic lead exposure are nonspecific but include:

• behavioural changes

• hyperactivity or decreased activity

•

developmental delay or loss of developmental milestones

• chronic lead nephropathy.

More significant exposure may result in:

• abdominal pain, vomiting, constipation

• headache and ataxia

• lethargy, seizures, and coma.

The most important treatment is to prevent further exposure to lead. Chelation therapy ca n be effective in reversing acute symptoms such

as encephalopathy but treatment is complex, particularly as lead is deposited in bon e and therefore has a long half-life.

Although acute exposure to organophosphate and carbamate pesticides results in well-known acute syndromes, there is growing evidence

that chronic exposure to these agents in early life can have adverse effects on ne urodevelopment and behaviour. In addition, there is

evidence associating some pesticides with an increased incidence of leukaemia and brain tumours.

Management of a poisoned child or young person

Outline of management

Identify the agent

Question parents, child, or young person Clinical symptoms and signs may help whe re history is unclear (Table 7.3)

Determine toxicity of agent

Is reduction of absorption possible/indicated?

Are investigations indicated?

Clinical management Consider:

• intrinsic toxicity (use poisons information service)

• reported dose ingested

• presence of symptoms

• time since ingestion

Activated charcoal:

• high surface area leads to adsorption of many drugs

• can be effective in reducing absorption of toxic agent if administered within 1 h of ing estion

• ineffective for iron, hydrocarbons, and pesticides

Gastric lavage and induced vomiting no longer

recommended

• General blood tests (e.g. full blood count, renal and liver function) dependent on mec hanism and likelihood of toxicity

• ECG for drugs with cardiovascular toxicity

• Specific blood concentrations only helpful for paracetamol, iron, salicylates, and alcoh ol

• Urine toxicology screen not helpful in the acute situation but may help to confirm diag nosis

Mainly determined by toxicity of agent:

• specific management including antidote as directed by poisons information service

• assessment of circumstances of ingestion important to prevent future recurrence

• assessment by child and adolescent psychiatrist or mental health services in cases of deliberate self-harm

Figure 7.10 Outline of management of poisoning.

Table 7.2 Some poisons and their treatment Agent

Paracetamol

Clinical symptoms Early:

• abdominal pain, vomiting

Later (12 h to 24 h):

• liver failure

Mechanism

Initial gastric irritation Toxic metabolite (NAPQI) produced by saturation of liv er metabolism

Button batteries Abdominal pain

Gut perforation and stricture formation Leakage: corrosion of gut wall due to electrical circuit production

Carbon monoxide

Salicylates

Early:

• headache, nausea Later:

• confusion, drowsiness

leading to coma

Early:

• vomiting, tinnitus Later:

• respiratory alkalosis

followed by

metabolic acidosis Binds to haemoglobin causing tissue hypoxia

Direct stimulation of respiratory centre

Uncouples oxidative phosphorylation leading to metabolic acidosis and hypoglycaem ia

Tricyclic

antidepressants

Ethylene glycol (anti-freeze)

Alcohol (accidental or experimenting by older children)

Early:

• tachycardia,

drowsiness, dry mouth

Later:

• arrhythmias, seizures

Early:

• intoxication

Later:

• tachycardia,

metabolic acidosis leading to renal failure

Hypoglycaemia

Coma

Respiratory failure

Anti-cholinergic effects, interference with cardiac conduction pathways

Management

Risk assessed by measuring plasma paracetamol

concentration

Treat with intravenous

acetylcysteine if concentration is high or liver function

abnormal

X-ray of chest and abdomen to confirm ingestion and identify position

Endoscopic removal is

recommended if in the

oesophagus, the object fails to pass, or symptoms are present (e.g. abdominal pain or

melaena)

High-flow oxygen to hasten dissociation of carbon

monoxide

The role of hyperbaric oxygen therapy is unclear

Plasma salicylate concentration 2–4 h after ingestion helps to estimate toxicity

Alkalinization of urine

increases excretion of

salicylates.

Haemodialysis also effectively removes salicylate

Treatment of arrhythmias with sodium bicarbonate

Support ventilation

Production of toxic

metabolites that interfere with intracellular energy production

Direct inhibitory effect on glycolysis in the liver and neurotransmission in the brain

Fomepizole inhibits the

production of toxic

metabolites; alcohol may also be used but has more adverse effects

Haemodialysis to remove toxic metabolites in severe cases

Monitor blood glucose and correct if necessary. Support ventilation if required

Blood alcohol levels may help to predict severity

Table 7.2 Some poisons and their treatment—cont’d Agent Iron

Hydrocarbons (e.g. paraffin, kerosene)

Clinical symptoms

Initial: vomiting,

diarrhoea,

haematemesis, melaena, acute gastric ulceration Latent period of

improvement

6–12 h later: drowsiness, coma, shock, liver failure with hypoglycaemia, and convulsi ons

Long term: gut strictures Pneumonitis

Coma

Organophosphorus pesticides

Cholinergic effects:

• salivation, lacrimation, urination, diarrhoea

and vomiting, muscle weakness, cramps and paralysis,

bradycardia. and

hypotension

Central nervous system effects:

• seizures and coma

NAPQI, N-acetylp-benzoquinone imine.

Mechanism

Local corrosive effect on gut mucosa

Disruption of oxidative phosphorylation in

mitochondria leads to free radical production, lipid peroxidation, and metab olic acidosis

Management

Serious toxicity if >75 mg/kg elemental iron ingested

Serum iron level 4 h after ingestion is the best

laboratory measure of severity Intravenous desferoxamine chelates iron and should be administered in cases of moderate-to-severe

toxicity

Low viscosity and high volatility makes aspiration easy, resulting in direct lung toxicity

Direct inhibitory effect on neurotransmission in the brain

Inhibition of

acetylcholinesterase

resulting in accumulation of acetylcholine

throughout the nervous system

No specific antidote – supportive treatment only

Supportive care

Atropine (often in large doses) as an anticholinergic agent Pralidoxime to reactivate ac etylcholinesterase

Table 7.3 Physical findings that may help identify different classes of drugs in overdose

Type of effect

Anticholinergic

(e.g. tricyclic

antidepressants,

antihistamines)

Opioid (e.g. morphine, codeine)

Sympathomimetic (e.g. cocaine,

amphetamines)

Sedative-hypnotic

(e.g. anticonvulsants, benzodiazepines)

Heart rate and blood pressure

Increased

Respiratory rate

No effect

Temperature Increased

Pupils Dilated

Sweating Reduced

Reduced Reduced Reduced Constricted Reduced

Increased Increased Increased Dilated Increased

Reduced Reduced Reduced No effect Reduced

107

Case history 7.2

A 14-year-old girl with vomiting and abdominal pain

Jemima, a 14-year-old girl, is brought to the emergency

department in the morning by her mother as she has been vomiting and complainin g of severe abdominal pain. On examination she has a

generally tender abdomen. Blood tests reveal an extremely high alanine transaminase concen tration, well above normal for her age. Her

clotting is also deranged with a prothrombin time of 17 seconds. An initial diagnosis of hepatitis is considered but on discussio n with the

consultant the lack of jaundice is considered atypical. On further direct qu estioning, Jemima admits to having taken 22 paracetamol

tablets (500 mg) the previous afternoon following an altercation with another girl at school. Je mima is commenced on N-acetylcysteine

and makes a full recovery.

This case highlights the need to consider a toxicological cause when the history, examination findings, and investigation results do not fit

together.

Summary

Accidental poisoning in children:

• is common in toddlers and young children

• most substances do not cause serious illness

• when an ingestion has occurred, identify the

agent and assess its toxicity to plan

management

• poisons potentially harmful in children include alcohol, acids and alkalis, bleach, digoxin, batteries, ir on, paracetamol, petroleum

distillates, salicylates, and tricyclic

antidepressants

• assess the social circumstances behind why it

happened.

Acknowledgements

We would like to acknowledge contributors to the

chapter on accidents and poisoning in previous editions, whose work we have drawn on: Jo Sibert (1st, 2nd, 3r d Edition, Environment),

Barbara Phillips (2nd edition, Environment), Ian Maconochie (3rd Edition, Environment), Rebecca Salter (4th Edition, Accidents,

Poisoning and Child Protection).

Further reading

Websites (Accessed November 2016)

Child Accident Prevention Trust (CAPT): Available at: www.capt.org.uk .

Making the link – working together for safer children: Available at: www.m akingthelink.net.

Paediatric Trauma Manual of the Royal Children’s Hospital Melbo urne: Available at: www.rch.org.au/

paed_trauma/manual/Paediatric_Trauma_Manual.

The Poison Review: Available at:

www.thepoisonreview.com.

Toxbase: Available at: www.toxbase.org. Requires password.

Child protection

Types of child abuse and neglect Prevalence of child maltre atment

110 111

Safeguarding children 113

Features of child protection are:

•

protecting children from harm is a duty of all health professionals

•

physical and sexual abuse may dominate the media, but it also encompasses neglect, emotion al abuse, sexual exploitation, fabricated

illness, and female genital mutilation

•

issues are often complex and difficult, so decisions usually require a multidisciplinary a pproach by specially trained, experienced

professionals.

Children and young people require parents or carers who love, look after, provide shelter, and protect them from harm. Unfortunately,

this is not the case for all children. Emotional, physical and sexual ab use and neglect of children by parents, carers and others continue to

blight the lives of children and young people as it has throughout history. Recent issues in the protection of vulnerable children and

adolescents have included harm from observing intimate partner violence, sexual exploitation, and fe male genital mutilation (FGM).

Maltreatment significantly decreases the likelihood that a child will reach his or her f ull potential, although this is not inevitable; some

resilient individuals manage despite very adverse circumstances.

Society, including the medical profession, was largely reluctant to accept that c hild maltreatment occurred until the second half of the

twentieth century, when attention was drawn by two American paediatricians to the ‘battered ch ild’. It is now accepted that child abuse

and neglect exist and legislation is in place making abuse a criminal offence.

The UN Convention on the Rights of the Child ( Box 8.1) specifically refers to the right of children to be protected from maltreatment,

both physical and mental. It gives governments the responsibility to ensure that children are properly cared for and protected from

violence, exploitation, abuse, and neglect.

In the UK, there has been a series of high-profile cases of child abuse, starting with Maria Colwell in 1973 and followed by Victoria

Climbie in 2000 and Peter Connelly (Baby P) in 2007, resulting in the death of the abused child with multiple injuries. This prompted

publication of reports and initiatives highlighting the need for better information sharing and coo perative working by health

professionals. More recently, there was the tragic case of Daniel Pelka (Box 8.2). The exp osure of systematic sexual abuse of vulnerable

young people, including abuse by a wide range of celebrity, political and other high-status figures, over many ye ars has further

highlighted the difficulties faced by all professionals with responsibility for the welfare of children. Social workers, teachers, police,

healthcare professionals, and those in many spheres of public life are more aware than ever of the need to recognize and respond

appropriately to the alerting signs of child abuse and neglect.

However, fear of missing child abuse has to be weighed against the damage of falsely accusing parents of abusing their children. This

requires sensible judgement, excellent communication with the parents, and a profe ssional culture in which any concern that a child is

being maltreated can be readily discussed with senior members of the team.

High-profile cases of child abuse:

• can make some doctors frightened to deal with child protection or become overly suspicious from fear of missing cases

• have led to improved multiagency guidelines and procedures

• have resulted in better, regularly updated child protection training for all hea lth professionals.

Box 8.1 Summary of the United Nations Convention on the Rights of the Child ( 1989)

1 Survival rights

The child’s right to life and to the most basic needs – food, shelter, and access to h ealthcare. 2 Developmental rights

To achieve their full potential – education, play, freedom of thought, conscience, and religion. Those with disabilities to receive special

services. 3 Protection rights

Against all forms of abuse, neglect, exploitation, and discrimination.

4 Participation rights

To take an active role in their communities and nations.

Summary

• Child maltreatment has existed for centuries but societies have been very slow to acknowledg e it as a problem.

• Children and young people are vulnerable and cannot protect themselves – the basis of ch ildren’s rights.

• Protecting children and young people from harm is a key role of parents o r carers and all involved with children.

• All healthcare professionals, social workers, teachers, police, and others have a du ty to ensure that they know what to do if they have

concerns that a child or young person may be being abused.

Box 8.2 A recent high-profile case of child abuse in the UK

Daniel Pelka, aged 4-years, died from a head injury in March 2012. In the months before his death he was denied food, force-fed salt,

held under the water in a bath until becoming unconscious, and regularly beaten and imprisoned in an unheated box room. Police

received 26 reports of domestic abuse at his home. Lack of rigorous questioning and po or record-keeping meant officials never got to the

bottom of what was going on. The serious case review into his death iden tified three main failures when the abuse could have been

stopped:

• professionals believed his parents’ story too

readily in 2011 that he broke his arm when he fell off a sofa

• his primary school failed to act on a pattern of injuries spotted during the 4 months b efore his death in 2012. Teachers watched him fish

half-eaten food from bins because he was so hungry. His mother convinced them that he had an eating disorder

• a paediatrician, just a month before he died, failed to spot child abuse as the key r eason for Daniel’s dramatic weight loss: he weighed

less than 11 kg when he died.

The report said professionals needed to have much more inquiring minds and to be focused and dete rmined in their intentions to address

concerns that would have offered greater protection for Daniel. What is striking and depressing is that no professional ever asked Daniel

how he was feeling and what was happening in his life that made him want to eat from bins. Talking to the child and seeking his or her

view is a key component of good safeguarding practice.

110

Types of child abuse and

neglect

Abuse and neglect are both forms of maltreatment of a child. Somebody may abuse or neglect a child by inflicting harm, or by failing to

act to prevent harm. Children may be abused in a family at home or in an institution o r community, usually by someone known to them

or, more rarely, by a stranger. They may be abused by one or more adults or another child or other chi ldren. Conventionally, child abuse

is categorized into:

• physical abuse

• emotional abuse

• sexual abuse, including sexual exploitation

• neglect

• fabricated or induced illness.

In addition to these categories, witnessing intimate partner violence is regarded as a form of child maltreatment. In the UK , the practice

of FGM is also regarded as a form of child abuse.

Physical abuse

Physical abuse may involve hitting, shaking, throwing, poisoning, burning or scalding, drown ing, suffocating, or otherwise causing

physical harm to a child.

Emotional abuse

Emotional abuse is the persistent emotional maltreatment of a child resulting in severe and persisten t adverse effects on the child’s

emotional development. It may involve conveying to children that they are worthless or unloved, inadequate, or valued only insofar as

they meet the needs of another person. It may feature developmentally inapprop riate expectations being imposed on children. These may

include interactions that are beyond the child’s deve lopmental capability, as well as overprotection and abnormal social interaction. It

may involve seeing or hearing the ill treatment of another child or person. It may als o involve serious bullying that causes children to feel

frightened or in danger, or the exploitation or corruption of children. Some level of emotional abuse is involved in all types of

maltreatment of a child, although it may occur alone.

Sexual abuse and sexual exploitation

Sexual abuse involves forcing or enticing a child or young person to take part in sexual activities, i ncluding prostitution, whether or not

the child is aware of what is happening. The activities may involve physical contact, including pene trative acts such as rape, buggery or

oral sex, and/or noncontact activities, such as involving children in looking at or prod ucing pornographic material or watching sexual

activities or encouraging children to behave in sexually inappropriate ways.

Sexual exploitation is a type of sexual abuse in which children are sexually exploited fo r money, power, or status. Children or young

people may be tricked into believing they are in a loving, consensual relationship . They might be invited to parties and given drugs and

alcohol. They may also be groomed online. Some children and young people are traffick ed into or within the UK for the purpose of

sexual exploitation. Sexual exploitation can also happen to young people in gangs.

Neglect

Neglect is the persistent failure to meet a child’s basic physical and/or psychological n eeds, likely to result in the serious impairment of

the child’s health or development. It may involve a parent or carer failing to provide:

• adequate food and clothing

•

shelter, including exclusion from home or abandonment

•

protection from physical and emotional harm or danger

•

adequate supervision, including the use of inadequate caregivers

• access to appropriate medical care or treatment.

It may also include neglect or unresponsiveness to a

child’s basic emotional needs.

Fabricated or induced illness

This is a broad term to describe a group of behaviours by parents (or carers ), but usually the mother (>80%), which cause harm to

children. It fulfils the parents (or carers) own needs. It may consist of:

verbal fabrication – parents fabricate (i.e. invent) symptoms and signs in the child, telling a false story to healthcare professionals,

leading them to believe the child is ill and requires investigation and treatmen t. Medical and nursing staff are used as the instrument to

harm the child through unnecessary interventions, including medication, hospital sta ys, intrusive tests, and surgery. In community

settings, the false stories may lead to medication, special diets, and a restric ted lifestyle or special schools

induction of illness – may involve:

•

suffocation of the child, which may present as an acute life-threatening event

• administration of noxious substances or poisons

•

excessive or unnecessary administration of ordinary substances (e.g. excess salt)

•

excess or unnecessary use of medication (prescribed for the child or others)

•

the use of medically provided portals of entry (such as gastrostomy buttons, centra l lines).

Organic illness may coexist with fabricated or induced illness in a child, thus making the fabrication more difficult to identify. It may

manifest as overprotection, imposing unwarranted restrictions, or giving treatme nt that is inappropriate or excessive.

The condition can be extremely difficult to diagnose, but may be suspected if the c hild has frequent unexplained illnesses and multiple

hospital admissions with symptoms that only occur in the carer’s presence and are not substan tiated by clinical findings. This disorder

can be very damaging to the child, as unnecessary investigations and potentially harmful treatment are likely to be given. The child also

learns to live with a pattern of illness rather than health. In induced poisoning, the diagnosis may be made by id entifying the drug in the

blood or urine.

Intimate partner violence

Observing violence between adults who are, or have been, intimate partners or fam ily members, irrespective of sex or sexuality, is also a

form of abuse. Threatening behaviour, violence, and abuse (psychological, physical, sexual, financial, or emotional) are recognized to

contribute to poor short-term and long-term outcomes for children and young p eople.

Female genital mutilation

This is defined by the WHO as ‘all procedures that involve partial or total removal of the external female genitalia, or other injury to the

female genital organs for nonmedical reasons’. It is recognized as a violation of the human rights of women and girls. Between 100–140

million women and girls are thought to be living with the consequences of FGM. It is nearly always c arried out on minors. In December

2012, the United Nations general assembly unanimo usly voted for its elimination throughout the world. In the UK, child protection

procedures are followed when there are concerns that a girl is likely to be subjected to or has undergone FGM (Fig. 8.1).

Prevalence of child

maltreatment

It is only possible to estimate the size of the problem in high-income countries where th ere are official statistics from agencies

investigating victims, e.g. child protection services or the police (investigating victims an d 111 offenders).

Normal Type I

Labia

minora

UrethraClitoris

Labia opening majora

8Vagina

A. Prepuce

removal only or

B. Prepuce

removal and partial or total removal of the clitoris

Posterior (a) (b)

Type II Type III

Removal of the clitoris plus part or all of the labia minora

Removal of part or all of the labia minora, with the labia majora

sewn together, covering the

urethra and

vagina and

leaving a small hole for urine and menstrual fluid

Table 8.1 Cumulative prevalence of abuse from self-reports (0–18 years) in high-incom e countries

Type of abuse Cumulative

prevalence

Sexual (all

Physical forms) Emotional 5–35% 15–30% for girls 4–9% 5–15% for boys

Witnessing intimate partner Neglect violence

6–12% 8–25%

From Gilbert R, Widom CS, Browne K, Fergusson D, Webb E, Janson S. Burden and consequences of child maltreatment in high-

income countries. Lancet 373:68–81, 2009.

According to the National Society for Prevention of Cruelty to Children in Englan d in 2013/2014:

•

there were over 11.5 million children under 18 years

•

almost 400 000 children received support from children’s services – about 3.5% of the tota l child population

•

over 48 000 children were identified as needing 112 protection from abuse – about 0.4% of the total

child population

•

over 62 000 children and young people talked to ChildLine about abuse

•

there are over 68 000 children in care (Source: http://www.nspcc.org.uk/services-and-resources / research-and-resources/statistics/).

They estimated that for every child identified as needing protection from abuse, another eight ar e suffering abuse. Studies based on self-

reports (Table 8.1) from victims who are old enough to comply with surveys, or studies based on parents reporting severe physical

punishment or patterns of care tend to confirm this. The discrepancy between ‘official’ agency data and those from self-reports

underlines the fact that only a few children who are maltreated receive official attention.

Furthermore, evidence from several studies suggests that children who are expos ed to one type of maltreatment are at high risk of other

types and of repeated exposure over time, and that the frequency of exposure is correlated with the severity of maltreatment. For a few

children, maltreatment is a chronic condition, not an event. Health professionals have a key ro le in helping children avoid the

devastatingly damaging effects of maltreatment and need to be alert to the possibility that the chi ld in front of them or the children of the

adult in front of them may be being maltreated.

Safeguarding children

Safeguarding is the term used in child protection processes and procedures in the UK. It means that not only should we intervene when

there are clear instances of child maltreatment as set out previously, but also vulnerabilities should be recognized and alerted to those

involved in looking after the child or young person. This includes the parents or carers, teachers , social workers and the police. Providing

early help is more effective in promoting the welfare of children than reacting later. The key princi ples of safeguarding children are:

•

safeguarding is everyone’s responsibility: for services to be effective each pr ofessional and organization should play their full part

•

child-centred approach: for services to be effective they should be based on a clear un derstanding of the needs and views of children.

Safeguarding is everyone’s responsibility

Risk factors

Child maltreatment occurs across socioeconomic, religious, cultural, racial, and ethnic groups. Alth ough no specific causes have been

definitively identified that lead a parent or other caregiver to abuse or neglect a c hild, research has recognized a number of risk factors

commonly associated with maltreatment (Box 8.3). Children within families and environments in which th ese factors exist have a higher

probability of experiencing maltreatment. It must be emphasized, however, that altho ugh certain factors are often present among families

where maltreatment occurs, this does not mean that the presence of these facto rs will always result in child abuse and neglect. For

example, there is a relationship between poverty and maltreatment, yet most people living in poverty do not harm their children.

Presentation

Child abuse and neglect

Child abuse may present with one or more of:

• physical symptoms and signs

• psychological symptoms and signs Box 8.3 Risk factors for child abuse

In the child:

• failure to meet parental expectations and aspirations, e.g. disabled, ‘wrong’ gender, ‘ difficult’ child

• born after forced, coercive, or commercial sex.

Parent/carer:

• mental health problems

• parental indifference, intolerance, or over-anxiousness

• alcohol, drug abuse.

In the family:

• step-parents

• domestic violence

• multiple/closely spaced births

• social isolation or lack of social support

• young parental age.

Environment:

• poverty, poor housing.

•

a concerning interaction observed between the child and the parent or carer

• the child may tell someone about the abuse

• the abuse may be observed.

Identification of child abuse in children with disabilities may be more difficult; disability is also a risk factor for child abuse.

In order to diagnose child abuse or neglect, a detailed history and thorough examination are crucial. In most instances where child abuse

is considered, seeking advice from colleagues, e.g. more experienced members of the team, paediatric radiologists and paediatric or

orthopaedic surgeons is essential.

Factors to consider in the presentation of a physical injury are:

• the child’s age and stage of development

•

the history given by the child (if they can

communicate)

•

the plausibility and/or reasonableness of the

explanation for the injury (Case History 8.1)

•

any background, e.g. previous child protection

concerns, multiple attendances to Accident

and Emergency department or general

practitioner

• delay in reporting the injury

• inconsistent histories from caregivers

•

inappropriate reaction of parents or caregivers

who are vague, evasive, unconcerned, or

excessively distressed or aggressive.

It is often not clear whether an injury is inflicted or non-inflicted. Table 8.2 gives ex amples of injuries and a guide as to the likelihood

that it is due to an inflicted injury. The context and observations of the family are very important in evaluating injuries that may be 113

inflicted.

Physical injuries that can be caused by child abuse

Case history 8.1

Severe child abuse
A 2-month-old boy was brought into the Accident 
8and Emergency department by ambulance, with sudden loss of consciousness. His mother
accompanying him appeared to have learning difficulties and could not explain what had happe ned. His father arrived soon after and said
that he had been changing the child’s nappy on the floor when suddenly he ‘went  all floppy and asleep’.
The child was unresponsive (U on AVPU) and had shallow breathing. His pupils were dilated.  He appeared well nourished and was
dressed only in a nappy. There were no obvious injuries seen.
Medical management was rapidly instituted. CT head scan showed subdural haemorrhages  (Fig. 8.2). A chest X-ray obtained following
intubation showed old posterior rib fractures (Fig. 8.3). Subsequent ophthalmological examin ation showed bilateral retinal haemorrhages
(Fig. 8.4).
The child was transferred to an intensive care unit, where he died. A postmortem  skeletal survey showed metaphyseal fractures (Fig.
8.5).
The parents maintained their story, despite the compelling evidence of inflicted head injury and shaking. The  case went to the criminal
court and both were sentenced on a number of charges.
Severe physical child abuse resulting in death gains considerable attention from the  media but is rare. Many more children suffer
permanent injury. Most have been seen previously by health professionals. Early recognition and res ponse to child protection concerns
could prevent severe injury.
Normal CSF density
Mixed density blood, either older subdural bleed
or active bleeding
Acute
blood in
subdural
space
114
Figure 8.2 Subdural haemorrhage. 
CSF = cerebrospinal fluid. 
Fracture lines with no healing (difficult to see)
Healed rib fracture Extensive callus around anterior rib fractures
Figure 8.3 Multiple rib fractures of different ages. 
Figure 8.4 Retinal haemorrhages from trauma to the head. (Courtesy of Clar e Roberts.)
Figure 8.5 Metaphyseal fracture of distal humerus. 
Table 8.2 Examples of injuries and a guide as to how likely it is due to an inflicted injury
Injury
Fractures
Bruises
Burns
More likely to be inflicted
Any fracture in a non-mobile child (excluding fragile bones)
Rib fractures
Multiple fractures (unless significant accidental trauma, e.g. road traffic accid ent)
Multiple fractures of different ages Bruising in the shape of a hand (Fig. 8.6a) or object
Bruises on the neck that look like attempted strangulation
Bruises around the wrists or ankles that look like ligature marks
Bruise to the buttocks in a child less than 2 years or any age without a good explanation
Any burn in a child who is not mobile A burn in the shape of an implement – cigarette, iron
A ‘glove or stocking’ burn consistent with forced immersion (Fig. 8.6b)
Bites Bruising in the shape of a bite thought unlikely to have been caused by  a young child (Fig. 8.6c)
May be inflicted accidental, or 
underlying disorder
Skull fracture in young child. 
Long bone fractures in a young but mobile child
Less likely or 
unlikely to be 
inflicted
Fracture in school-age child with witnessed trauma, e.g. fall from swing

Bruising to the trunk with a vague history Bruises on the shins of a mobile child

A burn to mobile

toddler with splash marks, a history of

pulling drink onto

himself – but may

indicate neglect in the form of poor

supervision

A witnessed biting of one toddler by another

(a)

(b)

(c)

Figure 8.6 (a) Bruising from finger trauma to a baby’s head; (b) scald with stock ing distribution including the soles from forced

immersion in hot water; and (c) a bite mark on an infant’s leg. Adult bite marks may be seen 115 in abuse, but bites from other children

are not uncommon.

Key features of bruising

• The age of a bruise cannot be accurately

estimated.

• Bruising is hard to detect on children

with dark skin.

• Mongolian spots can be mistaken

for bruises, as they may still be

present at several years of age (see

Fig. 10.14d).

Neglect

Consider the possibility of neglect when the child:

•

consistently misses important medical

appointments

•

lacks needed medical or dental care or

immunizations

• seems ravenously hungry

• is dirty

• is wearing inadequate clothing in cold weather

• is abusing alcohol or other drugs

• says there is no one at home to provide care.

Consider the possibility of neglect when the parent or other adult caregiver:

• appears to be indifferent to the child

• seems apathetic or depressed

• behaves irrationally or in a bizarre manner

• is abusing alcohol or other drugs.

Emotional abuse

This damaging form of abuse can be difficult to identify in a single brief healthcare interactio n with a child and carer (Case History 8.2)

but may be apparent when the observation period recurs or is longer, e.g. an inpatient or neonatal unit setting. Some clues may be found

by noting how the parent or caregiver perceives the child. Is the child:

• the ‘wrong’ gender

•

born at a time of parental separation or violence

• seen as unduly ‘difficult’?

There may be clues from the behaviour of the child. This depends on the child’s age:

•

babies:

–

apathetic, delayed development,

non-demanding

–

described by the mother as ‘spoiled, attention seeking, in control, not loving her’

•

toddlers and preschool children:

–

violent, apathetic, fearful

•

school children:

–

wetting, soiling, relationship difficulties, nonattendance, antisocial behaviour

•

adolescents:

–

self-harm, depression, oppositional, aggressive, and delinquent behaviour.

In addition to emotional abuse by a parent or carer, 116 bullying by other children is increasingly recognized

as an important form of emotional abuse. Every school should have a written bullying policy that needs to be implemented when

necessary.

Sexual abuse

In suspected sexual abuse, information from different sources needs to be pieced together (Fig. 8.7).

Recognition

The child or young person may:

• tell someone about the abuse

• be identified in pornographic material

•

be pregnant (by legal definition this is due to sexual abuse for a girl under the age of 13)

•

have a sexually transmitted infection with no clear explanation (but some sexually tr ansmitted infections can be passed from the mother

to the baby during pregnancy or birth).

Physical symptoms

• Vaginal bleeding, itching, discharge.

• Rectal bleeding.

Behavioural symptoms

•

Any of the symptoms outlined for emotional abuse in the previous section.

•

Unexpected awareness or acting out of sexualized behaviour beyond what wou ld be expected for age.

• Soiling, secondary enuresis.

•

Self-harm, aggressive or sexualized behaviours, regression, poor school performance.

Signs

There are few definitive diagnostic signs of sexual abuse on examination and nearly all exam inations after suspected sexual abuse show

no positive findings. This is because sexual abuse of children often comprises touching or kissing or other activi ties that do not involve

significant physical force. Furthermore, the genital area heals very quickly in y oung children, so signs may be absent even a few days

after significant trauma. Forensic material also decays rapidly. Examination of children suspected of having been sexually abused

requires a doctor with specific expertise and training, facilities for photographic documentation, sexually transmitted infection screening

and management and, where indicated, forensic testing (Fig. 8.7). Forensic testing of swabs from the child or his/her clothing/bedding

may reveal DNA from a body fluid of the perpetrator.

Investigation

In physical abuse, fractures in young children may not be detectable clinically and X-rays are required to identify them. Bruising

overlying a fracture is rarely seen on presentation. A full radiographic skeletal survey with oblique views of the ribs should be performed

in all children with suspected physical abuse under 30 months of age. Some lesions may be inconspicuous init ially but, if indicated,

become evident on a repeat X-ray 1–2 weeks later. Other medical conditions that

Case history 8.2

Is there emotional abuse or neglect?

A general paediatrician sees a 6-year-old boy for recurrent abdominal pain resulting in missing 20% of school this year.

The boy and his mother are accompanied by his 3 months old sister. The bo y is all over the clinic room – climbing onto the examination

couch, turning the ophthalmoscope on and off, crawling under the desk, trying to get hold of the computer keyboard and turning the

water tap of the handbasin on and off. The baby is crying, but her mother is holding her at arm’s length and not comforting her or taking

any notice of her son’s behaviour.

With the help of the clinic nurse, the boy is shown some toys and settles down and show s good ability to put a simple jigsaw puzzle

together. The baby keeps crying until the mother eventually gives her a bottle of formula from her bag. The mother’s affect is very flat

and is vague about the history of abdominal pain and why so much school has been missed.

Examination shows that he is on the 50th centile for weight and height. His mother says she has lost his personal child health record. He

is in school uniform and is clean but his hair is not brushed. He has dental cari es but mother cannot remember when he last saw the

dentist. The boy says that he cleans his teeth twice a day. He has some bruising to the shins but examination is otherwise normal.

From this description, what are the concerning features? What are the positive features (Table 8.3)?

What else do you need to know?

•

Who else is at home – partner, other children, others?

• What other support is available – family, friends?

•

Mother’s own health and health of others in the household?

• Social work involvement previously?

Who else would be helpful to involve in order to address the concerns raised?

The main concern is about mother’s flat affect – does she have significant mental health problems that are impairing her ability to be,

what the child psychiatrist Donald Winnicott called a ‘good enough’ parent?

The general practice, health visitor and school nurse would have additional information . Children’s social services need to be contacted

to see if the family is known to them. Is the child known to other hospitals? A professionals meeting could enable all those involved with

the family to obtain a more complete picture and plan appropriate support and mo nitoring.

This case history demonstrates:

•

concerns about any form of abuse – in this instance possible emotional abuse and n eglect – may arise in a number of settings

•

once possible concerns arise, the clinician needs to know what to do next. Arranging a meeting for information sharing to obtain a

detailed picture is a helpful first step

•

early intervention and appropriate support to families may prevent more sever e harm.

Table 8.3 Concerning and positive features relating to the family Concerning features

6-year-old boy

Has missed 20% of school

Very active, risky or inappropriate behaviour in clinic – does he have attention-deficit/h yperactivity disorder?

Hair is not brushed

Has dental caries

Baby

Crying most of the time

Mother

Affect seems very flat

Not intervening to stop inappropriate behaviour

Holding her baby at arm’s length and not comforting her Cannot remember when her son last saw the dentist Has lost the personal child

health record

Positive features

6-year-old boy

Shows good concentration

Is in a school uniform and is clean. Says that he cleans his teeth twice a day Growth is sa tisfactory

Mother

Has thought to bring along a bottle of formula for the baby

Has dressed the 6-year-old in a clean uniform

The assessment of sexual abuse

History from parent

Child’s history

Any

disclosure

Physical 8symptoms

Behaviour Bruises/ injury

Physical examinations

Sexually transmitted

diseases Forensic

Police inquiry Social work assessment Siblings

Figure 8.7 The assessment of sexual abuse is like a jigsaw puzzle. Many different pieces of information need to be pieced together to

make an informed opinion. (From Royal College of Paediatrics and Child Health: Child Protection Companion, 2005. After Hobbs CJ,

Wynne JM: The sexually abused battered child. Archives of Disease in Childhood 65:42 3–427, 1990. Reproduced with permission from

the BMJ Publishing Group.)

Figure 8.8 A thorough medical assessment is required in all children whe n non-accidental injury is suspected. This girl’s large bruise

followed what was said to be a minor bump. Non-accidental injury was suspe cted, but examination showed multiple bruises and

petechiae. She had immune thrombocytopenic purpura.

need to be considered and excluded in suspected child abuse are:

•

bruising – coagulation disorders (Fig. 8.8), Mongolian blue spots on the back or thighs

•

fractures – osteogenesis imperfecta, commonly referred to as brittle bone disease. The type common ly involved with unexplained

fractures is type I, which is an autosomal dominant disorder, so there may be a fam ily history. Blue sclerae are a key clinical finding and

there may be generalized osteoporosis and Wormian bones in the skull

118 (extra bones within skull sutures) on skeletal survey

•

scalds and cigarette burns – may be

misinterpreted in children with bullous impetigo or scalded skin syndrome.

Where brain injury is suspected all children require:

•

an immediate CT head scan followed later by a MRI head scan

• a skeletal survey to exclude fractures

•

an expert ophthalmological examination to identify retinal haemorrhages

• a coagulation screen.

Management

Abused children may present to doctors in the hospital or to medical or nursing staff in the community. The y may also be brought for a

medical opinion by social services or the police. In all cases, the procedures of the local safeguarding children board should be followed.

For children who are able to talk it is good practice to use a chaperone an d speak to children without parents present. The medical

consultation should be the same as for any medical condition, with a detailed history and full examination. It is usually most productive

when this is conducted in a sensitive and concerned way without being accusatory or condemning. Any injuries or medical findings

should be carefully noted, measured, recorded, and drawn on a body map and photographed (with consent). The height, weight and head

circumference (where appropriate) should be recorded and plotted on a centile cha rt. The interaction between the child and parents

should be noted. All notes must be meticulous, dated, timed, and signed on each page. Treatment of specific injuries should be instigated

and blood tests and X-rays undertaken.

If abuse is suspected or confirmed, a decision needs to be made as to whether the child needs immediate protection from further harm. If

this is the case, this may be achieved by admission to hospital, wh ich also allows investigations and multidisciplinary assessment. If

sympathetically handled, most parents are willing to accept medical advice for hospital admission for observation and investigation.

Occasionally, this is not possible and legal enforcement is required. If medical treatment is not necessary but it is felt to be unsafe for the

child to return home, a placement may be found with foster carers.

When dealing with any child suspected of having been abused, the safety of any other siblings or children at home must be considered.

The police and/or social services should be alerted to any concerns.

In addition to a detailed medical assessment, evaluation by social workers and other hea lth professionals will be required. A strategy

meeting and later a child protection conference may be convened in accordance with local procedures. Members may include social

workers, health visitors, police, general practitioner, paediatricians, teachers, a nd lawyers. Parents attend all or part of the case

conference. Details of the incident leading to the conference and the family backgr ound will be discussed. Good communication and a

trusting working relationship between the professionals are vital, as it can be extremely diffic ult to evaluate the likelihood that injuries

were inflicted deliberately and the possible outcome of legal proceedings. The conference w ill decide:

•

whether the child should be provided with a child protection plan and under what catego ry (see Case History 8.3)

Case history 8.3

Possible child abuse

Parents brought their 8-month-old daughter into the children’s emergency d epartment. They were worried that she had not been moving

her right arm for that day. The family remembered that at the evening meal two evenings before , her father was bringing dishes for the

family meal to a low corner coffee table in the sitting room. Mother was sitting with baby o n her knee, next to the table, trying to control

the older siblings, when father had accidentally dropped a heavy serv ing bowl of food. Mother automatically reached out to try to catch

it, dropping the baby in doing so and in the confusion, the serving bowl hit the baby’s arm. The baby cried very loudly for about 10

minutes or so but then seemed to settle. The next day she did not use the right arm but the family thought this was explained by the injury

causing a ‘strain’ as they could not see any bruising on the arm. An X-ray showed a fracture o f the right radius and ulna (Fig. 8.9).

Child protection concerns

• Baby under 1-year with fracture.

• Delayed presentation.

Positive features

• Plausible, consistent story.

•

Good parent–child interaction observed by medical and nursing staff.

• Well-nourished, well-cared-for appearance of baby.

• No other injuries on full examination.

• Skeletal survey showed no other fractures.

•

Personal child health record showed regularly weighed, thriving baby up to date with

immunizations.

•

No general practitioner or home visit concerns about the family.

•

Not previously known to local children’s social services.

Figure 8.9 X-ray of right arm showing fracture of the radius and ulna.

Outcome

•

Strategy meeting – no additional concerns identified. Decision – increased hea lth visitor contact and parents received advice about safety

in the home.

In child protection, conclusive evidence is often not available.

•

whether there should be an application to the Court to protect the child

• what follow-up is needed.

Why is child protection so difficult? Child protection:

• goes against the assumption that parents

usually have their children’s best interests at heart

• can involve confronting parents who may be manipulative or aggressive

• requires detailed evaluation of the history and examination to identify inconsis tencies and interpret subtle findings

• depends on genuinely good

multiprofessional teamwork and respect of colleagues.

Acknowledgements

We would like to acknowledge contributors to the child

protection section in previous editions, whose work we have drawn on: Jo Sibert, (1st, 2nd, 3rd Edition, in Environm ent), Barbara

Phillips (2nd Edition, Environment), Ian Maconochie (2nd, 3rd Edition, Environment), A ndrea Goddard (4th Edition, (Accidents,

Poisoning and Child Protection)).

Summary

Child abuse

• Child abuse is the responsibility of all doctors, and must not be avoided or ignored becau se it raises difficult issues and possible

appearance in Court.
• It takes various forms – physical abuse, emotional abuse, sexual abuse, neglect, fabrica ted or induced illness.
• The interests of the child should be kept uppermost to ensure protection from harm .
• In many instances it is uncertain whether or not the problem is one of child abuse. G ood communication with the parents and child is
vital.
Further reading
Royal College of Paediatrics and Child Health: Child Protec tion Companion, London, 2013. Available from
http://www.rcpch.ac.uk/improving-child-health/ child-protection/about-child-prote ction-companion/ about-child-protection-comp.
Websites (Accessed November 2016)
HM Government: Available at: https://www.gov.uk/ government/uploads/system/uploads/attachme nt
_data/file/419595/Working_Together_to_Safeguard _Children.pdf.
Working together to safeguard children A guide to interagency working to safeguar d and promote the welfare of children March 2015.
Laming Report: 2003, 2009. http://dera.ioe.
ac.uk/8646/1/12_03_09_children.pdf
Lancet Series: Child Maltreatment, 2008. http://www. thelancet.com/series/chi ld-maltreatment
NICE: NICE Guideline – Child Maltreatment, London, 2009, NICE. https://www.nice.org.uk/gu idance/cg89
9 
Genetics
  Chromosomal abnormalities  121
  Disorders of chromosome number  122
  Structural chromosome anomalies  126
  Mendelian inheritance  127
  Unusual genetic mechanisms  132
          Polygenic, multifactorial   or complex inheritance  134 D ysmorphology  135 Gene-based therapies 
137 Genetic services  138
Features of the genetic basis of diseases are:
•
the Human Genome Project resulted in the first publication of the human genome sequence  in 2001
•
it is now estimated that the human genome contains 20 000–25 000 genes, although the  function of many of them remains unknown.
Greater diversity and complexity at the protein level is achieved by alternative messenger RNA  splicing and post-translational
modification of gene products
•
microarray techniques and high-throughput sequencing are increasing the vol ume and speed of genetic investigations and reducing their
costs, leading to a greater understanding of the impact of genetics on health and disea se
•
access to genome browser databases containing DNA sequence and protein structure has  greatly enhanced progress in scientific research
and the interpretation of clinical test results (Fig. 9.1)
•
genetic databases are available on thousands of multiple congenital anomaly syndrome s, on chromosomal variations and disease
phenotypes, and on all Mendelian disorders
•
clinical application of these advances is available to families through specialist genetic centres  that offer investigation, diagnosis,
counselling and antenatal diagnosis for an ever-widening range of disorders
•
gene-based knowledge is entering mainstream medical and paediatric practice, esp ecially in diagnosis and therapeutic guidance, such as
for the treatment of malignancies.
Genetic disorders are:
•

common, with 2% of live-born babies having a significant congenital malformation and ab out 5% a genetic disorder

•

burdensome to the affected individual, family, and society, as many are associated with severe and permanent disability.

Genetically determined diseases include those resulting from:

• chromosomal abnormalities

• the action of a single gene (Mendelian disorders)

• unusual genetic mechanisms

•

interaction of genetic and environmental factors (polygenic, multifactorial, or comp lex disorders), which include epigenetic influences on

gene expression from early in life.

Chromosomal abnormalities

Genes are composed of DNA that is wound around a core of histone proteins and packaged into a succession of supercoils to form the

chromosomes. The human chromosome complement was co nfirmed as 46 in 1956. The chromosomal abnormalities in Down,

Klinefelter, and Turner syndromes were recognized in 1959 and thousands of ch romosome defects have now been documented.

Chromosomal abnormalities are either numerical or structural. They occur in approxim ately 10% of spermatozoa and 25% of mature

oocytes and are a common cause of early spontaneous miscarriage. The

Chromosome 22 p13 p11.2 q11.21 q12.1 q12.3 q13.1 q13.2 q13.31

Chromosomal area of interest

Alignment of genes along the forward

Chromosomal band

and reverse DNA strands

Chromosome bands

255.02 Kb Forward strand 19.75 Mb 19.80 Mb

q11.21

19.85 Mb 19.90 Mb 19.95 Mb Ensembl/Havana g...

Gene legend

SEPT5 > TBX1 > < GNB1L < C22orf29 AC000078.5 > COMT> < GP1BB > AC000089.3 > < TXNRD2

19.75 Mb 19.80 Mb

255.02 Kb

19.85 Mb 19.90 Mb 19.95 Mb

Reverse strand

Chromosome 22: 19,706,683 – 19,961,699

Merged Ensembl/Havana Pseudogene

Genes in the highlighted region (names given below each gene)

Figure 9.1 Ensembl genome browser. The image shows part of chromosome regi on 22q11, involved in 22q11 deletion syndrome

(DiGeorge syndrome). Although only part of the commonly deleted region is shown, t he image shows several genes that are deleted in

22q11 deletion syndrome. The online Ensembl browser can be used to ‘zoom in’ on spec ific areas, showing the genes present in different

chromosome regions, and can also be used to show the gene sequence itself.

estimated incidence of chromosomal abnormalities in live-born infants is about 1 in 150; they often cause multiple congenital anomalies

and cognitive difficulties. Acquired chromosomal changes play a significant role in carc inogenesis and tumour progression.

Disorders of

chromosome number

Down syndrome (trisomy 21)

This is the most common autosomal trisomy and the most common genetic cause of severe learning difficulties. The incidence (without

antenatal screening) in live-born infants is about 1 in 650, and increases with maternal age.

Clinical features

If not diagnosed antenatally, Down syndrome is usually suspected at birth because of the baby’s facial appearance. Most affected infants

are hypotonic and other useful clinical signs include a flat occiput, single pal mar creases, incurved fifth finger, and wide ‘sandal’ gap

between the big and second toes (Fig. 9.2a–c, Box 9.1). The diagnosis can be difficult to mak e when relying on clinical signs alone and a

suspected diagnosis should be confirmed by a senior paediatrician. Before blood is sent for an alysis, parents should be informed that a

test for Down syndrome is being performed. The results may take 1–2 days, using real-time PCR (rtPCR) or rapid fluorescence i n situ

hybridization (FISH) techniques.

122 Parents need information about the short-term and long-term implications of the diagnosis. They are also likely, at some stage in the

future, to appreciate the opportunity to discuss how and why the condition has arisen, the risk of recurrence, and the possibility of

antenatal diagnosis in future pregnancies.

It is difficult to give a precise long-term prognosis in the neonatal period, as there is great individual variation in the degree of learning

difficulty and the development of complications. Over 85% of infants with trisomy 21 survive to 1 year of age. Congenital heart disease

is present in about 40% and is a major cause of early mortality, particularly atrioventricular canal defects. Duodenal atresia is another

problem in the newborn period. However, in the UK, at least 50% of affected individuals live longer than 50 years. Parents also need to

know what assistance is available from both professionals and family support groups. Cou nselling may be helpful to assist the family to

deal with feelings of grief, anger, or guilt.

Child development services will provide or coordinate care for the parents. This will include regular review of the child’s development

and health. Children with Down syndrome should be screened periodically for im pairment of vision and hearing, hypothyroidism, coeliac

disease, and atlantoaxial instability.

Cytogenetics

The extra chromosome 21 may result from meiotic nond isjunction, translocation, or mosaicism.

Meiotic nondisjunction (94%)

In nondisjunction trisomy 21:

• most cases result from an error at meiosis

•

the chromosome 21 pair fails to separate, so that one gamete has two chromo some 21s and one has none (Fig. 9.3)

•

fertilization of the gamete with two chromosome 21s gives rise to a zygote with trisomy 21

•

parental chromosomes do not need to be examined.

The incidence of trisomy 21 due to nondisjunction is related to maternal age (Table 9.1). However, as the proportion of pregna ncies in

older mothers is small, most affected babies are born to younger mothers. Furthermore, meiotic nondisjunction can occur in

spermatogenesis so that the extra copy of chromosome 21 can be of pater nal origin. All pregnant women are now offered screening tests

measuring biochemical markers in blood samples and nuchal thickening on ultrasound (thickening of the soft tissues at the back of the

neck) to identify an increased risk of Down syndrome in the fetus. When an increased risk is identified, amniocentesis is offered to check

the fetal karyotype. Noninvasive prenatal testing (NIPT) is now possib le, in which cell-free fetal DNA is analyzed from maternal blood,

and is becoming part of routine screening in the UK. After having one child with trisomy 21 due to nondisjunction, the risk of recurrence

of Down syndrome is given as 1 in 200 for mothers under the age of 35 years, bu t remains similar to their age-related population risk for

those over the age of 35 years.

Down syndrome

Figure 9.2a Characteristic facies seen in Down syndrome. Her posture is due to hyp otonia.

Figure 9.2b Single palmar crease.

Figure 9.2c Pronounced ‘sandal’ gap with wide space and often a deep fissure betw een the big toe and second toe.

Box 9.1 Characteristic clinical manifestations of Down syndrome Typic al craniofacial appearance:

• round face and flat nasal bridge

• upslanted palpebral fissures

• epicanthic folds (a fold of skin running across the inner edge of the palpebral fissure)

• Brushfield spots in iris (pigmented spots)

• small mouth and protruding tongue

• small ears

• flat occiput and third fontanelle.

Other anomalies:

• short neck

• single palmar creases, incurved and short fifth finger, and wide ‘sandal’ gap betw een first and second toes

• hypotonia

• congenital heart defects (in 40%)

• duodenal atresia

• Hirschsprung disease (<1%).

Later medical problems:

• delayed motor milestones

• learning difficulties – severity is variable, usually mild to moderate but may be severe

• short stature

• increased susceptibility to infections

• hearing impairment from secretory otitis media (75%)

• visual impairment from cataracts (15%), squints, myopia (50%)

• increased risk of leukaemia and solid tumours (<1%)

• acquired hip dislocation and atlantoaxial instability

• obstructive sleep apnoea (50% to 75%)

• increased risk of hypothyroidism (15%) and coeliac disease

• epilepsy

• early-onset Alzheimer disease.

123

Inheritance of Down syndrome

Non-disjunction Chromosome 21s

Parents Parents

Non-disjunction at meiosis

Robertsonian translocation

Translocation carrier

21 14

Normal

Gametes Gametes

Not viable Offspring

Fertilization Offspring

Trisomy 21 Down syndrome

Normal Translocation carrier

Monosomy Trisomy 14 14

Not viable Not viable

MonosomyTranslocation 21 Down

Not viable syndrome

Figure 9.3 Nondisjunction Down syndrome. Figure 9.4 Translocation Down syndrome.

There is a Robertsonian translocation involving chromosomes 21 and 14, which has been inherited from a parent.

Translocation (5%)

When the extra chromosome 21 is joined onto another chromosome (usually chromosome 14, but occasionally chromosome 15, 22, or

21), this is known as a Robertsonian translocation. This may be present in a phenotypically normal carrier with 45 chromosomes (two

being ‘joined together’) or in someone with Down syndrome and a set of 46 chromosomes but with three copies of chromosome 21

material. In this situation, parental chromosomal analysis is recommended, because one of the parents may well carry the translocation in

balanced form (in 25% of cases; Fig. 9.4).

Table 9.1 Risk of Down syndrome (live births) with maternal age at delivery, prior to screening in pregnancy

Maternal age (years)

All ages

124 44

Risk of Down syndrome

1 in 650

1 in 1530

1 in 900

1 in 385

1 in 240

1 in 110

1 in 37

In translocation Down syndrome:

•

the risk of recurrence is 10–15% if the mother is the translocation carrier and about 2.5% if the father is the carrier

•

if a parent carries the rare 21 : 21 translocation, all the offspring will have Down s yndrome

•

if neither parent carries a translocation (75% of cases), the risk of recurrence is less than 1%.

Mosaicism (1%)

In mosaicism, some of the cells are normal and some have trisomy 21. This usually arises afte r the formation of the chromosomally

normal zygote by nondisjunction at mitosis but can arise by later mitotic nondisjunction in a trisomy 21 conception . The phenotype is

sometimes milder in Down syndrome mosaicism.

Summary

Down syndrome (trisomy 21)

• Natural incidence – about 1.5 per 1000 infants.

• Cytogenetics – nondisjunction (most common,

related to maternal age), translocation (one parent may carry a balanced translocation), or mosaicism (rar e).

• Presentation – antenatal screening, prenatal diagnosis, or clinical presentation; confirmed on chromosome analysis.

• Immediate medical complications – increased risk of duodenal atresia, congen ital heart disease.

• Clinical manifestations – see Box 9.1.

Edwards syndrome and Patau syndrome Box 9.2 C linical features of Edwards syndrome (trisomy 18)

• Low birthweight

• Prominent occiput

• Small mouth and chin

• Short sternum

• Flexed, overlapping fingers (Fig. 9.5)

• ‘Rocker-bottom’ feet

• Cardiac and renal

malformations

Figure 9.5 Overlapping of the

fingers in Edwards syndrome. Box 9.3 Clinical features of Patau syndrome (tr isomy 13)

• Structural defect of brain

• Scalp defects

• Small eyes

(microphthalmia) and other eye defects

• Cleft lip and palate

• Polydactyly

• Cardiac and renal

malformations.

Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13 )

Although rarer than Down syndrome (1 in 8000 and 1 in 14 000 live births respectively) , particular constellations of severe multiple

abnormalities suggest these diagnoses at birth; most affected babies die in infancy (Fig. 9.5, Boxes 9.2 and 9.3) but extended survival is

possible. The diagnosis is confirmed by chromosome analysis. Many affecte d fetuses are detected by ultrasound scan during the second

trimester of pregnancy and diagnosis can be confirmed antenatally by amniocentesis and chrom osome analysis. Can also be diagnosed

on non-invasive prenatal testing (NIPT). Recurrence risk is low, except when the tris omy is due to a balanced chromosome

rearrangement in one of the parents.

Turner syndrome (45, X)

Turner syndrome usually results in early miscarriage (>95%) and is in creasingly detected by ultrasound antenatally when fetal oedema of

the neck, hands, or feet or a cystic hygroma may be identified. In live-born females, the incidence is a bout 1 in 2500. Fig. 9.6 and Box

9.4 show the clinical features of Turner syndrome,

Turner syndrome

Figure 9.6 Turner syndrome. The woman on the left has marked short stature but no other clinical features; the adolescent female on the

right has neck webbing and has received growth hormone and is 150 cm in height. Box 9 .4 Clinical features of Turner syndrome

• Lymphoedema of hands and feet in neonate, which may persist

• Spoon-shaped nails

• Short stature – a cardinal feature

• Neck webbing or thick neck

• Wide carrying angle (cubitus valgus)

• Widely spaced nipples

• Congenital heart defects (particularly coarctation of the aorta)

• Delayed puberty

• Ovarian dysgenesis resulting in infertility, although pregnancy may be possible with in v itro fertilization using donated ova

• Hypothyroidism

• Renal anomalies

• Pigmented moles

• Recurrent otitis media

• Normal intellectual function in most cases

125

although short stature may be the only clinical abnormality in children.

Treatment is with:

• growth hormone therapy

•

oestrogen replacement for development of secondary sexual characteristics at the tim e of puberty (but infertility persists).

In about 50% of girls with Turner syndrome, there are

945 chromosomes, with only one X chromosome. The

other cases have a deletion of the short arm of one X chromosome, an isoch romosome that has two long arms but no short arm, or a

variety of other structural defects of one of the X chromosomes. The presence of a Y chromosome sequence may increase the risk of

gonadoblastoma. The incidence does not increase with maternal age and risk of recurrence is ve ry low.

Klinefelter syndrome (47, XXY)

This disorder occurs in about 1–2 per 1000 live-born males. For clinical features, see Bo x 9.5. Recurrence risk is very low.

Structural chromosome

anomalies

Reciprocal translocations

An exchange of material between two different chromosomes is called a reciprocal translocation. When this exchange involves no loss or

gain of chromosomal material, the translocation is ‘balanced’ and usually has no phenotyp ic effect. Balanced reciprocal translocations

are relatively common, occurring in 1 in 500 of the general population. A translocation that app ears balanced on conventional

chromosome analysis may still involve the loss of a few gen es or the disruption of a single gene at one of the chromosomal break points

and result in an abnormal phenotype, often including cognitive difficulties. Studying the break p oints in such individuals has been one

way of identifying the location of specific genes.

Unbalanced reciprocal translocations contain an ‘incorrect’ amount of chromosomal materia l and often impair both physical and

cognitive development, leading to dysmorphic features, congenital m alformations, developmental delay, and learning difficulties. When

recognized in a newborn baby, the prognosis is difficult to predict but the effect is usually severe. The parents’ chromosomes should be

checked to determine whether the abnormality has arisen de novo, or as a consequence of a parental rearrangement. Finding a bala nced

translocation in one parent indicates a recurrence risk for future pregnancies, so that antenatal dia gnosis by chorionic villus sampling or

amniocentesis should be offered as well as testing relatives who might be carriers.

Deletions

126 Deletions are another type of structural abnormality. Loss of part of a chromosome usu ally results in physical Box 9.5 Clinical

features of Klinefelter syndrome

• Infertility – most common presentation

• Hypogonadism with small testes

• Pubertal development may appear normal (some males benefit from testosterone the rapy)

• Gynaecomastia in adolescence

• Tall stature

• Intelligence usually in the normal range, but some have educational and psychological problems

abnormalities and cognitive impairment. The deletion may involve loss of the terminal or an interstitial part of a chromosome arm.

An example of a deletion syndrome involves loss of the tip of the short ar m of chromosome 5, hence the name 5p- or monosomy 5p.

Because affected babies have a high-pitched mewing cry in early infancy, it is also known as cri- du-chat syndrome. Parental

chromosomes should be checked to see if one parent carries a balanced chromosomal rea rrangement. The clinical severity varies greatly,

depending on the extent of the deletion. It is now possible to specify the genes involved in chromosomal de letions as molecular methods

are replacing standard cytogenetic investigations.

A deletion of band q11 on chromosome 22 (i.e. 22q11) can be associated with a range of phenotypes including both the DiGeorge

syndrome (Fig. 15.27) and the velocardiofacial syndrome. Williams syndrome is another example of a microdeletion syndrome due to

loss of chromosomal material at band q11 on the long arm of chromosome 7 (i.e. 7q11; Fig. 9.18, see also Box 9.12).

Duplications

Gain of structural material can also lead to congenital malformations and intellectual impair ment, although duplications are often better

tolerated than deletions.

An example of a duplication syndrome is partial trisomy of 17p. The duplication can range from being submicroscopic to being large

enough to be visible on a karyotype. If it involves duplication of the PMP22 gen e at 17p12, then the patient will have a form of Charcot–

Marie–Tooth disease (peripheral neuropathy) in addition to other features resulting from the abnormality.

Testing for submicroscopic copy

number variants

An increasing number of syndromes are now known to be due to chromosome deletions (or duplications) too small to be seen by

conventional cytogenetic analysis. Submicroscopic deletions can be detec ted by FISH studies using DNA probes specific to particular

chromosome regions. FISH studies are useful when a specific chrom osome deletion is suspected.

Newer techniques are beginning to supersede the karyotype and FISH (Tabl e 9.2, Fig. 9.7a). Array comparative genomic hybridization

(microarray) can be used to

Table 9.2 Cytogenetic analysis techniques

Karyotype

Fluorescence in situ hybridization (FISH) Comparative

genomic

hybridization array

Resolution 3 Mb

Specific to target

150 kB

Microscopic Submicroscopic Rearrangements

– +

+ +

(microarray)

+ –

Figure 9.7a Fluorescence in situ hybridization (FISH) demonstrating a microdeletion on chrom osome 22 associated with DiGeorge

syndrome. Hybridization signals are seen on one chromosome 22 but not on the other becaus e of the presence of a deletion (Courtesy of

L. Gaunt, St Mary’s Hospital, Manchester, UK.) check the chromosomes for structura l rearrangements larger than 150 kB in size (Fig.

9.7b).

The advantage of microarrays is that no specific target is required for the test to be effective. Many of the newly emerging

submicroscopic copy number variants have overlapping clinical features, and nontargeted testing is the most effective way to identify

these.

One disadvantage of array comparative genomic hybridization is that the informatio n provided can be unhelpful if the test reveals a copy

number variant of uncertain significance. In addition, microarrays only provide quantitative data, and cannot be used to check for

structural rearrangements, e.g. Robertsonian translocations. The information provided by mic roarray often requires discussion with a

clinical geneticist.

Mendelian inheritance

Mendelian inheritance, described by Mendel in 1866 from work on garden peas, is the transmission of inh erited traits or diseases caused

by variation in a single gene in a characteristic pattern. These Mendelian traits

22:51 305Kb

q13.33 q13.31 q13.2 q13.1 q12.3 q12.2 q12.1 q11.23 q11.21 q11.1 q11.1 q11.2 q12 q13

-1.20

-0.80

-0.40

-0.00

0.40

0.80

Figure 9.7b Array comparative genomic hybridization (microarray) result for a p atient with 22q11 deletion. There is a reduction in the

ratio of patient:control sequences from within band 22q11 on the long arm of 127 c hromosome 22.

Unaffected: Female, Male, Sex unknown

Affected: Female, Male, Sex unknown Mating with Abortion two offspring

Heterozygote (carrier) in autosomal

recessive inheritance

9Female heterozygote (carrier) in

X-linked inheritance

Dizygous Monozygotic twins twins

Deceased Index case

Mating

Consanguineous

mating

4 4 unaffected females

Figure 9.8 Examples of pedigree symbols.

or disorders are individually rare but collectively numerous and important: over 6000 have been described so far. For many disorders, the

Mendelian pattern of inheritance is known. If the diagnosis of a condition is uncertain, its pattern of inheritance may be evident on

drawing a family tree (pedigree), which is an essential part of genetic evaluation (Fig. 9 .8).

Autosomal dominant inheritance

This is the most common mode of Mendelian inheritance (Box 9.6). Autosomal dominant conditions are caused by alterations in only

one copy of a gene pair, i.e. the condition occurs in the hetero zygous state despite the presence of an intact copy of the relevant gene.

Autosomal dominant genes are located on the autosomes (chromosomes 1–22), and so males and females are equally affected. Each child

from an affected parent has a 1 in 2 (50%) chance of inheriting the abnormal gene (Fig. 9.9a,b). This appears to be straightforward, but

complicating factors include the following factors.

Variation in expression

Within a family, some affected individuals may manifest the disorder mildly and others mo re severely. This may be the result of

variation at other genes, environmental effects, or sheer chance.

Non-penetrance

Refers to the lack of clinical signs and symptoms in an individual who has inherited the abnormal gene. An example of this is

otosclerosis, in which only about 40% of gene carriers develop deafness (Fig. 9.10).

De novo mutation

A mutation is classed as de novo if it does not affect either parent. It may be due to:

•

a new mutation in one of the gametes leading to the conception of the affected perso n. This is the most common reason for absence of a

family

128 history in dominant disorders, e.g. about 80% of individuals with achondroplasia have unaffected parents. The risk of new single-

point mutations increases with paternal age

•

parental mosaicism – very occasionally a healthy parent harbours the mutation only in some of their cells, e.g. in their gonads. This can

account for recurrences of autosomal dominant disorders in siblings born to apparently unaffected parents. It has been described in

congenital lethal osteogenesis imperfecta

•

non-paternity – if the apparent father is not the biological father.

Homozygosity

In the rare situation where both parents are affected by the same autosomal dominant disorder, t here is a 1 in 4 risk that a child will be

homozygous for the altered gene. This usually causes a more severe phenotype, which may be lethal, as with achondroplasia.

Knudson two-hit hypothesis

Some autosomal dominant conditions related to cancer susceptibility follow Knudson two-hit hypothesis. Both copies of the gene need to

be mutated for a malignancy to occur. If a person is born with only one working copy of the gene in every cell in his/her body, then only

one further mutation event needs to occur for both copies of the gene to be inactivated . The chance of this happening is much greater

than the chance of two successive mutations occurring in someone who starts life with two functional copies of the gene. The

susceptibility to cancer is therefore inherited in a dominant fashion but the developm ent of cancer within a cell can be thought of as a

local event within the individual, so that not every person wh o inherits the susceptibility will necessarily develop a malignancy.

An example in paediatrics is mutation in the retinoblastoma (Rb) gene. If a child inherits the susceptibility, i.e. a mutation in one copy of

the Rb gene, then a tumour will occur if a second hit occurs on the w orking copy in a cell of the relevant type, so that the child inheriting

a mutation will often have a tumour in both eyes, but approximately 10% will escape with neither eye affected.

Autosomal dominant inheritance

Box 9.6 Examples of autosomal dominant disorders

• Achondroplasia

• Ehlers–Danlos syndrome (this is a family of disorders rather than a single condition)

• Familial hypercholesterolaemia

• Huntington disease

• Marfan syndrome

• Myotonic dystrophy

• Neurofibromatosis

• Noonan syndrome

• Osteogenesis imperfecta

• Otosclerosis

• Polyposis coli

• Tuberous sclerosis

Parents

Affected Normal

Offspring

Figure 9.9b Typical pedigree of an autosomal dominant disorder.

Affected Affected Normal Normal 50% 50%

Figure 9.9a Autosomal dominant inheritance.

Summary

Autosomal dominant inheritance:

• Most common mode of Mendelian

inheritance.

• Affected individual carries the abnormal gene on one of a pair of autosomes.

• There is 1 in 2 chance of inheriting the abnormal gene from affected parent, but the re may be variation in expression, nonpenetrance, no

family history (new mutation, parental mosaicism, non-paternity), or homozygo sity (rare).

I 1 2

II 1 2 3 4

III 1 2

Figure 9.10 Example of nonpenetrance. I1 and III2 have otosclerosis. II2 ha s normal hearing but must have the gene (a new mutation

event is most unlikely to arise independently for a second time in the family). T he gene is nonpenetrant in II2.

Autosomal recessive inheritance

An affected individual is homozygous for the mutant allele in the gene. Sometimes, th ere is a different mutation on each copy of the

gene, for example cystic fibrosis, and the affected individual is a compound heterozygote. In either situation, they will have inherited an

abnormal allele from each parent, both of whom will usually be unaffected heterozygous carriers (Box 9.7). For a couple with both

parents being carriers, the risk of any child being affected, male or female, is 1 in 4 (25%; Fig. 9.11a,b). All offspring of an affected

individual will carry the condition. If an affected individual has children with an unaffected carrier, then each has a 50% chance of being

affected.

Consanguinity

It is thought that we all carry six to eight abnormal 129 recessive gene s. Fortunately, our partners usually carry

Autosomal recessive inheritance

Box 9.7 Examples of autosomal recessive disorders

• Congenital adrenal hyperplasia

• Cystic fibrosis

• Friedreich ataxia

• Galactosaemia

• Glycogen storage diseases

• Hurler syndrome

• Oculocutaneous albinism

• Phenylketonuria

• Sickle cell disease

• Tay–Sachs disease

• Thalassaemia

• Werdnig–Hoffmann disease (SMA1).

Parents

Offspring

Figure 9.11b Pedigree to show autosomal recessive inheritance.

Affected 25%

Unaffected Normal carriers 25% 50%

Figure 9.11a Autosomal recessive inheritance.

Summary

Autosomal recessive inheritance

• Affected individuals are usually homozygous for the abnormal gene; each unaffected parent will be a heterozygous carrier.

• Two carrier parents have a 1 in 4 risk of having an affected child.

• Risk of these disorders varies between populations and is increased by

consanguinity.

• Autosomal recessive disorders often affect metabolic pathways, whereas autosomal dominant disorders often affect structural proteins.

different ones. Marrying a cousin or another relative increases the chance of both partners carryin g the same autosomal recessive gene

mutation. Cousins who marry have a modest increase in the risk of having a child with a serious recessive disord er: raising this for

discussion with families is often a very delicate matter as it may trigger feelin gs of guilt, blame, and intercultural disrespect.

The frequencies of disease alleles at recessive gene loci vary between population groups. W hen the gene occurs sufficiently often and the

gene or its effects can be detected, population-based carrier screening can be performed and antenatal diagn osis can be offered for high-

risk pregnancies where both parents are carriers. Disorders that have been screened for in this way for many years include sickle cell

disease in black Africans and African Americans, the thalassaemias in those from Mediterr anean or Asian populations, and

130 Tay–Sachs disease in Ashkenazi Jews. With developments in DNA-sequencing technologies, it is becoming possible for the range of

disorders being screened to increase dramatically. Wealthy countries that pra ctise customary consanguineous marriage are beginning to

use these technologies to identify the genetic basis of the recessive disorders prevalent in th eir communities and to screen for a broad

range of conditions.

X-linked inheritance

X-linked conditions are caused by alterations in genes found on the X chromosome. These may be inherited as X-linked recessive or X-

linked dominant traits but the distinction between these is much less cl ear than in autosomal traits because of the variable pattern of X

chromosome inactivation in females.

In X-linked recessive inheritance (Box 9.8, Fig. 9.12a,b):

• males are affected

• female carriers are usually healthy

X-linked recessive inheritance

Box 9.8 Examples of X-linked recessive disorders

• Colour blindness (red–green)

• Duchenne and Becker muscular dystrophies

• Fragile X syndrome

• Glucose-6-phosphate dehydrogenase deficiency

• Haemophilia A and B

• Hunter syndrome (mucopolysaccharidosis II)

Figure 9.12b Typical pedigree for X-linked (recessive) inheritance, showing Queen Victo ria, a carrier for haemophilia A, and her family.

It shows affected males in several generations, related through females, an d that affected males do not have affected sons (contrast with

autosomal dominant inheritance).

Parents

Carrier female Normal male

X X X Y

Offspring

X X X Y X X X Y Normal Normal Carrier Affected female male female male

Figure 9.12a X-linked (recessive) inheritance.

Queen Victoria

I Edward VII Leopold of Albany

II George V Leopold Maurice of Battenburg

III

George VI 4

Queen

Waldewar

III

George VI 4

Queen

Waldewar

IV Elizabeth

of Prussia

Henry of Prussia

Tsarevitch Rupert Alexis of

Russia

Alfonso of

Spain Gonzalo of Spain

Affected male

Charles Anne Andrew Edward Carrier female

•

occasionally a female carrier shows features of the disease

•

each son of a female carrier has a 1 in 2 (50%) risk of being affected

•

each daughter of a female carrier has a 1 in 2 (50%) risk of being a carrier

• daughters of affected males will all be carriers

•

sons of affected males will not be affected, because a man passes a Y chromosome to his sons.

The family history may be negative, because new mutations and (g onadal) mosaicism are fairly common in some conditions.

Identification of carrier females in a family requires interpretation of the pedigr ee, the search for mild clinical manifestations, and the

identification of carriers through specific biochemical or molecular tests. Identifying carriers is i mportant because a female carrier has a

50% risk of having an affected son regardless of who her partner is and X-linked recessive disorders can be very severe.

X-linked dominant disorders, where both males and females are affected, are unusual . An example is hypophosphataemic (vitamin D-

resistant) rickets. In some other X-linked dominant disorders, a female carryin g the mutation will be affected while the mutationcarrying

males have an even more serious condition. Thus, a mutation that causes Rett syndrome (a neurodegenerative d isorder) in a girl will

cause a lethal, neonatal-onset encephalopathy in males. Another reason why a sex-linked condition may predominantly affect females is

because it usually arises through mutations at spermatogenesis (e.g. Rett syndrome). As male offspring must inherit a Y chromosome

from their father, they will not inherit any mutations on the X 131 chromoso me that arise during spermatogenesis.

Summary

X-linked recessive inheritance:

• Males are affected; females can be carriers but are usually healthy or have mild disease.

• Family history may be negative – many arise from new mutations or gonadal mos aicism.

• Identifying female carriers is important to be able to provide genetic counselling.

• All the female offspring of affected males will be carriers, but none of the ma le offspring can inherit the mutation.

• Half of the male offspring of a female carrier will be affected and half of the female o ffspring will be carriers.

Y-linked inheritance

Y-linked traits are extremely rare. Y-linked inheritance would re sult in only males being affected, with transmission from an affected

father to all his sons. Y-linked genes determine sexual differentiation and spermatogenesis, and mutations are associated with infertility

and so are rarely transmitted.

Unusual genetic mechanisms Trinucleotide repeat

expansion mutations

This is a class of unstable mutations that consist of expansions of trinucleotide repeat sequences inherited in Mendelian fashion. Fragile

X syndrome, myotonic dystrophy, and Huntington disease are among the best known of these d isorders. They follow different patterns

of inheritance but share certain unusual properties due to the nature of the und erlying mutation. Trinucleotide repeat disorders exhibit a

phenomenom known as anticipation. The triplet repeat mutation is unstable and can expand between subsequent generations. In general,

a larger expansion causes a more severe form of the disease. This means that these co nditions can become more severe in successive

generations of the same family.

There are two major categories of triplet repeat disorder, depending on whether or not the tr iplet repeat is in the coding sequence of the

gene. When the triplet repeat expansion is in the coding sequence, as in Hun tington disease (and in a number of other neurodegenerative

disorders), proteins containing an excess of the amino acid, glutamine, are produce d. Glutamine can damage the cells in the central

nervous system when present in excess, leading to neurodegeneration. When the triplet repeat ex pansion is in other regions of the gene,

reduced quantities of the protein are produced. In these cases, the reduction in the amount

132 of the available protein leads to the symptoms of the condition. One such example is myoton ic dystrophy, which is described further

in Chapter 29. Neurological disorders.

Most of the triplet repeat disorders are autosomal dominant but there is o ne autosomal recessive disorder, Friedreich ataxia, and fragile X

syndrome, which is X linked.

Fragile X syndrome

The prevalence of significant learning difficulties in males due to fragile X syndrome is about 1 in 4000 (Fig. 9.13 and Box 9.9). This

condition was initially diagnosed on the basis of the cytogenetic appearance of an a pparent break (a fragile site) in the distal part of the

long arm of the X chromosome. Diagnosis is now achieved by molecular analysis of the trinucleotide repeat expansion in the relevant

gene.

Although it is inherited as an X-linked disorder, some 40% to 50% of female carriers have learning difficulties (usually mild to

moderate). More puzzling is the observation that ma les can be unaffected but transmit the condition through their daughters to their

grandsons. This is not possible in haemophilia or Becker muscular dystrophy, for example, where a male cannot inhe rit the condition

from his family and transmit the condition to his children without himself being affected. This can occur in fragile X because the trip let

repeat expansion varies in its nature with its size. The normal range of repeat numbers is up to about 45 repeats; when larger than that the

block of repeats becomes increasingly unstable but continues to permit fragile X gene expression until a ‘full mu tation’ is reached at

about 200 repeats. From 55 repeats to 200 repeats is known as the ‘premuta tion’ range, and a male can inherit a premutation and transmit

it to his daughters (who will all be carriers) while being intellectually nor mal and without the physical features of fragile X.

Because these full mutations always arise from expansion of premutations, and never directly from normal genes, the mothers of affected

males have to be carriers of a premutation or full mutation. Offering referral for genetic counselling is therefore appropriate for all fragile

X families, especially as there can be associated disorders for premutation carriers in adult life.

Fragile X syndrome is the second most common genetic cause of severe learnin g difficulties after Down syndrome

Mitochondrial or

cytoplasmic inheritance

Mitochondria are cytoplasmic organelles that function as a cellular compartment within which ma ny different metabolic pathways are

located, including most prominently the production of energy by oxidative phosphoryla tion. They contain their own DNA (mtDNA), but

most of the proteins involved in mitochondrial metabolic reactions are encoded in the nuclear genome. The mtDNA encodes proteins

involved in oxidative phosphorylation together with the RNA and proteins necessary for mitochondrial protein synthesis.

Fragile X

Figure 9.13 A child with fragile X syndrome. At this age, the main physical feature is of ten the prominent ears.

Box 9.9 Clinical findings in males in fragile X syndrome

• Moderate–severe learning difficulty (IQ 20–80, mean 50)

• Macrocephaly

• Macroorchidism – postpubertal

• Characteristic facies – long face, large everted ears, prominent mandible, and b road forehead, most evident in affected adults

• Other features – mitral valve prolapse, joint laxity, scoliosis, autism, hyperactivity

Each cell contains thousands of copies of the mitochondrial genome. Inherited disorders of mitochondrial function may result from

mutations in the nuclear genome or, less often, from mutations in the mitochondrial genome (mtDNA). In disorders of the mtDNA, the

mutation may be present in all or only some of the mitochondria, so that the tissues a ffected and the severity of the condition can be

highly variable. Mutations in mtDNA cause overlapping clusters of disease phenotypes, with high-energy tissues such as muscle, brain,

the heart, and the retina being more commonly affected (e.g. Leber hereditary optic neuropathy and various mitoch ondrial myopathies

and encephalopathies, such as MERFF, MELAS, NARP). These conditions are described in more detail in Chapter 27 – Inborn errors of

metabolism. Diseases caused by mutations in mtDNA show only maternal transmission, b ecause only the egg contributes mitochondria

to the zygote.

Imprinting and uniparental disomy

In the past, it was assumed that the activity of a gene is the same regardless of whether it is inherited from the mother or father. It has

been shown that the expression of some genes is influenced by the sex of the parent who transmitted it. This phenomenon is called

‘imprinting’. If one copy of a gene is said to be imprinted, that copy is switched off in at least some tissues.

An example involves Prader–Willi syndrome (PWS; hypotonia, devel opmental delay, hyperphagia, and obesity). The PWS

chromosomal region is found at 15q11–13 (i.e. at bands 11 to 13 on the long arm of chromosome 15). Both the paternal and the maternal

copies of this chromosomal region have to function for normal development. In th e absence of a (functioning) paternal copy of this

region, a child will develop PWS, as some genes are maternally imprinted. By contrast, th e failure to inherit a (functioning) maternal

copy of this chromosomal region results in an entirely different condition, Angelman syndrome, lea ding to severe cognitive impairment,

a characteristic facial appearance, ataxia, and epilepsy because of a lack of expression of the U BE3A gene and the paternal copy being