Part 1 book “Paediatrics and child health” has contents: Nature and nurture, health care and child health promotion, children with long-term medical conditions, history taking and clinical examination, developmental assessment, investigations and their interpretation,… and other contents.
Paediatrics and Child Health To our children: Aaron and Rebecca Krom; Sophie, Jake, and Naomi Lee; Alysa, Katie, Ilana, Hannah and David Levene To our spouses: Michael, Sue, and Alison To those individuals who over the course of years have influenced our approach to children in health and disease: Ben Berliner, Victor Dubowitz, David Hall, Ze’ev Hochberg, Hugh Jolly, Jim Littlewood, Esther Rudolf, Hedva Steiner, Myron Winick Paediatrics and Child Health Third edition Mary Rudolf Consultant Paediatrician and Professor of Child Health Head of Studies, MSc in Child Health, University of Leeds NHS Leeds and University of Leeds Tim Lee Consultant in Paediatric Respiratory Medicine Organiser, MSc in Child Health, University of Leeds Leeds Teaching Hospital Trust and University of Leeds Malcolm Levene Emeritus Professor of Paediatrics and Child Health University of Leeds A John Wiley & Sons, Ltd., Publication This edition first published 2011 © 2011 by Mary Rudolf, Tim Lee and Malcolm Levene Blackwell Publishing was acquired by John Wiley & Sons in February 2007 Blackwell’s publishing program has been merged with Wiley’s global Scientific, Technical and Medical business to form Wiley-Blackwell Registered office: John Wiley & Sons Ltd, The Atrium, Southern Gate, Chichester, West Sussex, PO19 8SQ, UK Editorial offices: 9600 Garsington Road, Oxford, OX4 2DQ, UK The Atrium, Southern Gate, Chichester, West Sussex, PO19 8SQ, UK 111 River Street, Hoboken, NJ 07030-5774, USA For details of our global editorial offices, for customer services and for information about how to apply for permission to reuse the copyright material in this book please see our website at www.wiley.com/wiley-blackwell The right of the author to be identified as the author of this work has been asserted in accordance with the UK Copyright, Designs and Patents Act 1988 All rights reserved No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, electronic, mechanical, photocopying, recording or otherwise, except as permitted by the UK Copyright, Designs and Patents Act 1988, without the prior permission of the publisher Designations used by companies to distinguish their products are often claimed as trademarks All brand names and product names used in this book are trade names, service marks, trademarks or registered trademarks of their respective owners The publisher is not associated with any product or vendor mentioned in this book This publication is designed to provide accurate and authoritative information in regard to the subject matter covered It is sold on the understanding that the publisher is not engaged in rendering professional services If professional advice or other expert assistance is required, the services of a competent professional should be sought Library of Congress Cataloging-in-Publication Data Rudolf, Mary, author Paediatrics and child health / Mary Rudolf, Consultant paediatrician and Professor of Child Health NHS Leeds and University of Leeds, Tim Lee, Consultant in Paediatric Respiratory Medicine, Co-organiser MSc in Child Health West Yorkshire, Lead, Medicines for Children Research Network, Malcolm Levene, Leeds General Infirmary – Third Edition p ; cm Includes bibliographical references and index ISBN 978-1-4051-9474-7 (pbk : alk paper) Pediatrics Children–Health and hygiene I Lee, Tim, (Pediatrician), author II Levene, Malcolm I (Malcolm Irvin), author III Title [DNLM: Pediatrics Child Welfare WS 200] RJ45.R86 2011 618.92–dc22 2010047404 A catalogue record for this book is available from the British Library Set in 10/12 pt Adobe Garamond Pro by Toppan Best-set Premedia Limited Contents Preface to the third edition and acknowledgements How to get the best out of your textbook vii viii Part 1: About children Chapter Nature and nurture Chapter Health care and child health promotion 18 Chapter Children with long-term medical conditions 35 Part 2: A paediatric tool kit Chapter History taking and clinical examination 51 Chapter Developmental assessment 83 Chapter Investigations and their interpretation 90 Part 3: An approach to problem-based paediatrics Chapter The febrile child 107 Chapter Respiratory disorders 132 Chapter Gastrointestinal disorders 157 Chapter 10 Cardiac disorders 191 Chapter 11 Neurological disorders 202 Chapter 12 Development and neurodisability 225 Chapter 13 Growth, endocrine and metabolic disorders 252 Chapter 14 Musculoskeletal disorders 283 Chapter 15 Renal and urinary tract disorders 295 Chapter 16 Genitalia 311 Chapter 17 Dermatology and rashes 318 Chapter 18 Haematological disorders 342 Chapter 19 Emotional and behavioural problems 352 vi / Contents Chapter 20 Social paediatrics 362 Chapter 21 Emergency paediatrics 369 Chapter 22 The newborn 399 Chapter 23 Adolescence and puberty 433 Part 4: Your paediatric rotation and exams Chapter 24 Getting the most out of your paediatric rotation and achieving good marks 449 Chapter 25 Testing your knowledge 452 Index 474 Companion website This book is accompanied by a companion website: www.wiley.com/go/rudolf/paediatrics with: • Fully downloadable figures and illustrations Preface to the third edition Experience is the child of Thought, and Thought is the child of Action We cannot learn men from books Benjamin Disraeli Was Disraeli right? Are books a very limited resource? Certainly the only way to become competent as a doctor is to encounter children and their medical problems on the wards, in clinics and their homes It is only through these Experiences that Thought and understanding can lead you to the Action required to meet children’s needs But of course reading must accompany experience This book has always been seen of value in complementing your paediatric rotation and ensuring that you are well equipped for paediatric examinations as well as clinical practice As before, it aims first and foremost, to provide you with the necessary tools to arrive at a diagnosis and to care for children in the context of their family and school Unlike most medical textbooks which use diseases as their building blocks, this textbook uses symptoms and signs at its core Competences you must acquire are highlighted in each chapter, a logical approach to important presenting symptoms follows and the correct technique you need to develop for examining children is shown in the accompanying video The book ends with self assessment so you can test your knowledge and understanding This third edition has been fully revised so that it allows you to work through the curriculum organ system by organ system As before there are features that allow you to readily recognize the important, common or serious conditions that you must not miss An exciting development has been the provision of free access to a Desktop Edition so that you can view and interact with the book electronically, including videos on clinical examination A companion website allows you to download figures and illustrations The words of Benjamin Disraeli are a reminder that no book can substitute for clinical experience but we hope that this book can indeed ‘learn’ students, and help you get the most out of your paediatric experience, guiding you to appropriate Thought and Action Acknowledgements We are grateful to the following who have contributed illustrations: Dr Rosemary Arthur, Mr P.D Bull, Dr Tony Burns, Professor Martin Curzon, Dr Mark Goodfield, Dr Phillip Holland, Mr Tim Milward, Dr P.R Patel, Dr John Puntis, Mr Mark Stringer, Dr David Swirsky, Ms Clare Widdows, Dr Susan Wyatt and Dr Jane Wynne We would like to thank the Royal College of Paeditrics and Child Health and Harlow Printing for permission to reproduce their growth charts We would like to thank the following: Extract of ‘Henry King who chewed string and was cut off in dreadful Agonies’ from Cautionary Verses by Hilaire Belloc (Copyright © The Estate of Hilaire Belloc 1930) is reproduced by permission of PFD (www.pfd.co.uk) on behalf of the Estate of Hilaire Belloc Extract of ‘Rebecca who slammed doors for fun, and perished miserably’ from Cautionary Verses by Hilaire Belloc (Copyright © The Estate of Hilaire Belloc) is reproduced by permission of PFD (www.pfd.co.uk) on behalf of the Estate of Hilaire Belloc Extract from ‘Now We Are Six’ © A.A Milne Published by Egmont UK Limited, London and used with permission Published by Dutton’s Children’s Books, a division of Penguin Young Readers Group, a member of Penguin Group (USA) Inc, 345 Hudson Street, New York, NY 10014, and used with permission All rights reserved Extract from When We Were Very Young © A.A Milne Published by Egmont UK Limited, London and used with permission Published by Dutton’s Children’s Books, a division of Penguin Young Readers Group, a member of Penguin Group (USA) Inc, 345 Hudson Street, New York, NY 10014, and used with permission All rights reserved viii / How to get the best out of your textbook How to get the best out of your textbook Welcome to the new edition of Paediatrics and Child Health Over the next two pages you will be shown how to make the most of the learning features included in the textbook ▲ An interactive textbook For the first time, your textbook gives you free access to a Wiley Desktop Edition – a digital, interactive version of this textbook You can view your book on a PC, Mac, laptop and Apple mobile device, and it allows you to: Search: Save time by finding terms and topics instantly in your book, your notes, even your whole library (once you’ve downloaded more textbooks) Note and Highlight: Colour code highlights and make digital notes right in the text so you can find them quickly and easily Organize: Keep books, notes and class materials organized in folders inside the application Share: Exchange notes and highlights with friends, classmates and study groups Upgrade: Your textbook can be transferred when you need to change or upgrade your computer or device Link: Link directly from the page of your interactive textbook to all of the material contained on the companion website ▲ Video showing you how to examine children Simply log on to www.wiley.com/go/rudolf/paediatrics for full instructions on how to get started A unique feature of the textbook is a detailed video taking you step by step through the examination of the child Salient features are captured and the correct technique demonstrated for each organ system – essential for eliciting signs, coming to a diagnosis and showing your competence in OSCE examinations Chapter 12: Development and neurodisability / 237 Table 12.3 Causes of cerebral palsy Prenatal Cerebral malformations Congenital infection (p 233) Metabolic defects Perinatal Complications of prematurity Intrapartum trauma Hypoxic–ischaemic insult* (p 403) Postnatal (if incurred before 18 months of age) Non-accidental injury Head trauma (a) (b) Meningitis/encephalitis Cardiopulmonary arrest * In term babies this is an uncommon cause Cerebral palsy should not be attributed to these insults unless they were severe and followed by neurological problems in the neonatal period times in the developing brain The clinical picture resulting from these insults varies depending on the area of the brain involved Spastic cerebral palsy is the commonest form and results from damage to the cerebral motor cortex or its connections Dystonic (athetoid) cerebral palsy results from damage to the basal ganglia and is characterized by irregular and involuntary movements which may be continuous or occur on voluntary movement Ataxic cerebral palsy is rare and results from damage to the cerebellum It is characterized by hypotonia, incoordination and intention tremor Clinical features of spastic cerebral palsy Spastic cerebral palsy is classified according to the extremities affected (Figure 12.1) Clasp-knife hypertonia, brisk deep tendon reflexes, ankle clonus, and a Babinski response (extensor plantar) are found in the affected limbs Spastic hemiplegia In spastic hemiplegia (Figures 12.1a, 12.2), only one side of the body is affected, and the arm is often more involved than the leg During infancy there are decreased spontaneous movements on the affected (c) Figure 12.1 Types of cerebral palsy: (a) spastic hemiplegia, (b) spastic diplegia and (c) spastic quadriplegia side Walking is usually delayed until 18–24 months, and when it develops there is a characteristic gait The child often walks on tiptoes because of the increased tone, and the affected arm is held in a dystonic posture when running Spastic diplegia Spastic diplegia (Figure 12.1b) is the commonest type of cerebral palsy seen in survivors of severe prematurity Both legs are involved, and the arms are less affected, if at all The first indication of a problem often occurs when the baby starts to crawl and the legs tend to drag behind There is excessive adduction of the hips and the parents may find difficulty in putting on a nappy When the baby is suspended under the arms, the legs take up a scissoring posture Walking is delayed, and the gait is characteristic The feet are held in the equinovarus position and the child walks on tiptoes Spastic quadriplegia Spastic quadriplegia (Figure 12.1c) is the most severe form of cerebral palsy because of marked motor 238 / Part 3: An approach to problem-based paediatrics • • • • • speech disorders; behaviour disorders; feeding difficulties; undernutrition and poor growth; respiratory problems How cerebral palsy presents and the diagnosis is made Follow-up of babies who have suffered a cerebral insult perinatally is the commonest way in which cerebral palsy is diagnosed; others may be detected through child health surveillance In the neonatal period the diagnosis may be suspected if a baby has difficulty sucking, irritability, convulsions or an abnormal neurological examination However, many of these infants subsequently develop normally, so it is important that cerebral palsy is not mistakenly diagnosed too early The diagnosis is usually made late in the first year of life when the following features emerge: Figure 12.2 A child with left hemiplegia Note the flexed posture of the arm and circumduction of the leg impairment of all extremities and the high association with severe learning disabilities and fits Swallowing difficulties and gastro-oesophageal reflux are also common and often lead to aspiration pneumonia Microcephaly is common, and flexion contractures of the knees and elbows are often present by late childhood Associated disabilities, especially speech and visual problems, are particularly prevalent Associated problems Children with cerebral palsy commonly have additional problems, especially if they have the quadriplegic or severe hemiplegic form of the condition These problems include the following: • • • • • learning difficulties; epilepsy; visual impairment; squint; hearing loss; • Abnormalities of tone Initially the tone may be quite reduced, but eventually spasticity develops • Delays in motor development Marked head lag and delays in sitting and rolling over are usually found • Abnormal patterns of development Movements are not only delayed but also abnormal in quality • Persistence of primitive reflexes Primitive reflexes such as the Moro, grasp and asymmetric tonic neck reflex (see p 78) persist beyond the age at which they normally disappear The diagnosis is made on clinical grounds As the clinical picture takes time to evolve, repeated examinations are often required to establish the diagnosis Once made, a multidisciplinary assessment is needed to define the extent of the difficulties Investigations The aetiology of the cerebral palsy is often evident from the history Rarely, further investigation is required to rule out progressive disorders Computed tomography (CT) or magnetic resonance imaging (MRI) scans may be useful in demonstrating cerebral malformations, delineating the extent of structural lesions and ruling out very rare progressive or treatable causes such as tumours Management of cerebral palsy (see Box 12.1) The goals of managing cerebral palsy fall into two categories: those specific to cerebral palsy, and those Chapter 12: Development and neurodisability / 239 Box 12.1 Managing the child with cerebral palsy • Aim to minimize the effects of spasticity and development of contractures • Identify and manage any associated problems • Ensure the child is provided with appropriate support for their special educational needs • Ensure the family has adequate support: financial, practical and emotional • Try to maximize the child’s integration into society related to any child with a disability As regards cerebral palsy itself, the effects of spasticity and the development of contractures must be minimized by regular physiotherapy Providing the child with aids may help them to be independently mobile The associated problems that commonly occur in cerebral palsy must be actively sought and management provided As for any child with a disability, appropriate schooling and educational resources must be provided to meet any special educational needs One must ensure that the family are provided with adequate financial, practical and emotional support, and the child must be helped to integrate as much as possible into society Practical aspects of management Most children with cerebral palsy have multiple difficulties and require a multidisciplinary input This is best provided by a child development team, in order to ensure good liaison between professionals and parents, and to structure a coordinated programme of treatment to meet all the child’s needs Physiotherapy The role of the physiotherapist is crucial in the management of the child with cerebral palsy It is the physiotherapist who advises on handling and mobilization (Figure 12.3) The family must be taught how to handle the child in daily activities such as feeding, carrying, dressing and bathing in ways that will limit the effects of abnormal muscle tone They are also taught a series of exercises designed to prevent the development of deforming contractures The physiotherapist may also provide a variety of aids, such as firm boots, lightweight splints and walking frames for the child who is beginning to walk (a) (b) Figure 12.3 Holding a child with cerebral palsy (a) Incorrect technique (b) Correct technique Occupational therapy The occupational therapist’s role overlaps with the physiotherapist The occupational therapist is trained to advise on special equipment such as wheelchairs and seating, and also on play materials and activities that best encourage the child’s hand function Speech therapy The speech and language therapist is involved in advising on feeding and language In the early months advice may be required for feeding and swallowing difficulties Later, a thorough assessment of the child’s developing speech and language is often required and help given on all aspects of communication, including non-verbal systems when necessary Medication Drugs, other than anticonvulsants for epilepsy, have a limited role in cerebral palsy If spasticity is severe and causing pain, a drug to reduce muscle spasm (baclofen) is sometimes prescribed Orthopaedic surgery Even with adequate physiotherapy, orthopaedic deformities may develop as a result of long-standing muscle weakness or spasticity Dislocation of the hips 240 / Part 3: An approach to problem-based paediatrics Cerebral palsy at a glance Management • Multidisciplinary assessment and management • Phsyiotherapy is essential • Occupational and speech therapy • Special equipment needs must be met • Drugs and surgery have a limited place • Support for the family involving voluntary agencies and social services • Special educational needs – in mainstream school, if physical access and resources for learning difficulties are adequate Otherwise, special school for the physically or learning disabled Definition Cerebral palsy is a disorder of movement caused by a permanent, non-progressive lesion in the developing brain Epidemiology 2–3 per 1000 children Aetiology/pathophysiology Cerebral palsy is caused by pre-, peri- or postnatal insults to the brain Types include spastic (commonest), dystonic and ataxic cerebral palsy Clinical features of spastic cerebral palsy Hemiplegic, diplegic and quadriplegic forms occur Neurological signs in affected limbs • clasp-knife hypertonia (a) • brisk deep tendon reflexes (b) • ankle clonus (c) • Babinski response (extensor plantar) (d) a b c d How the diagnosis is made The diagnosis is clinical, based on findings of abnormalities of tone, delays in motor development, abnormal movement patterns and persistent primitive reflexes Diagnosis may be suspected in neonates, but can only be made months later Common associated problems Gastro-oesophageal reflux Learning disability (mild or severe) Epilepsy Visual impairment Hearing impairment Points for routine follow-up Monitor: • developmental progress • medical problems • development of contractures or dislocation • behavioural difficulties • nutritional status Each child needs a structured programme addressing all needs Liaison between professionals is important Prognosis Depends on degree and type of cerebral palsy, level of learning disability and presence of other associated problems Degree of independent living achieved relates to: • type and extent of cerebral palsy • degree of learning disability • presence of associated problems, e.g visual impairment, epilepsy Chapter 12: Development and neurodisability / 241 may occur as a result of spasticity in the thigh adductors, and fixed equinus deformity of the ankle as a result of calf muscle spasticity Both of these may require orthopaedic surgery Nutrition Undernutrition commonly occurs in children with cerebral palsy, and can reduce the chances of achieving physical and intellectual potential Food must be given in a form appropriate to the child’s ability to chew and swallow Energy-rich supplements and medical treatment for reflux, if present, may be needed If the child is unable to eat adequate amounts, a gastrostomy may need to be placed Issues for the family The family has to cope with all the difficulties facing any family with a child with disabilities (p 45) However, cerebral palsy, if severe, places particularly heavy demands on the family in terms of time and input Everyday tasks such as dressing and bathing take time, and feeding, in particular, may take hours each day The child also needs regular physiotherapy at home, and needs to attend for appointments, both for medical follow-up and therapy In view of this, the family is in need of support, which often goes beyond what family and friends can supply It is important that they are aware of the support offered by voluntary and social service agencies in terms of babysitting, respite care and benefits Very rarely cerebral palsy has a genetic basis In most cases parents need reassurance that the chance of recurrence is not substantially greater than that for the general population Issues for the school An important aspect of the child’s multidisciplinary assessment is advice about schooling Children with milder forms of cerebral palsy can cope at mainstream school, provided minor learning difficulties and physical access are addressed Children with more severe cerebral palsy will need special schooling either in a school for children with physical disabilities, or one for children with severe learning disabilities, depending on the degree of their difficulties Duchenne muscular dystrophy Duchenne muscular dystrophy is the commonest hereditary neuromuscular disease It is a progressive Figure 12.4 Gower’s sign: from lying down the boy uses his hands to ‘climb up’ his legs disorder resulting in death in the early twenties It is inherited as an X-linked recessive trait Clinical features Baby boys are normal at birth, and delayed walking is usually only identified retrospectively Symptoms appear between the ages of and years and are progressive They consist of frequent falls, a lordotic waddling gait and difficulty climbing stairs On examination the child has enlarged but weak calf muscles The Gower sign is characteristic (Figure 12.4); on rising from a lying position the boy uses his hands to ‘climb up’ his legs to get to an upright posture On investigation the creatine kinase level is elevated by at least 10 times the normal level Management The child needs physiotherapy, support and help through school Genetic counselling is extremely important for the family as 50% of sons will be affected Early detection by finding an elevated CPK level in boys late in starting to walk allows the family to plan future pregnancies, as prenatal diagnosis is now possible Prognosis Most of these boys are unable to walk by the age of 8–11 years and become confined to a wheelchair Chest muscles are also affected Respiratory insufficiency can be improved by oral steroids or overnight non-invasive breathing support Life expectancy is improving, but remains poor, with death precipitated by respiratory infections by the mid twenties and early thirties 242 / Part 3: An approach to problem-based paediatrics Duchenne muscular dystrophy at a glance Epidemiology Commonest hereditary neuromuscular disease Boys only affected Carrier female X Confirmatory investigations Elevated creatinine kinase EMG shows myopathic changes Muscle biopsy shows characteristic histology Normal male X X Y Aetiology X-linked recessive trait Dystrophin gene defect History Frequent falls Difficulty climbing stairs Delay in acquired walking* Differential diagnosis Other myopathies Normal female Normal male Carrier female Diseased male X-linked recessive inheritance of Duchenne muscular dystrophy (DMD) Management Physiotherapy Genetic counselling (prenatal diagnosis available) Molecular pathophysiology Physical examination Lordotic waddling gait Enlarged, weak calf muscles Positive Gower sign Basal lamina Sarcoglycan complex Laminin Sarcolemma Syntrophins Dystrophin (the missing protein in DMD) Actin Prognosis Progressive deterioration Confined to wheelchair by age 8–11 years Involvement of chest muscles – respiratory infections Death usually occurs in 20 s or early 30 s COOH NH2 Basal lamina NB *Signs and symptoms are variable Skeletal muscle fibre Learning disability The term ‘learning disabilities’ (or ‘difficulties’) has replaced the terms ‘mental retardation’ and ‘mental handicap’ Various degrees of learning difficulties occur and are classified into mild, moderate and severe according to intellectual limitations and the degree of independence anticipated or achieved Individuals with severe learning difficulties can learn minimal self care and simple conversation skills, and need much supervision throughout their lives Those with profound learning disability require total supervision, few become toilet trained and language development is generally minimal The prevalence of severe learning disability is about four children per 1000 Children with severe learning disabilities are spread throughout the social classes, and usually have an organic basis for their problem This contrasts with children with milder learning disabilities, where mostly no organic cause is found and where there is a predominance of children from lower socioeconomic classes Aetiology/pathophysiology In about one quarter of children with significant learning disability, no specific cause is identified However, this picture is changing as a result of advances in the field of genetics Diagnoses are now being made in children who in the past were thought to have idiopathic learning disabilities Where significant congenital anomalies and dysmorphic features are found, the diagnostic process has been helped by the development of computerized databases Chromosome disorders (predominantly Down’s syndrome and fragile X) are the commonest cause of severe learning disabilities (see Table 12.4) Fragile X is important as a genetic cause in boys The chromosomal anomaly consists of a ‘fragile site’ at the end of one of the long arms of the X-chromosome The diag- Chapter 12: Development and neurodisability Table 12.4 Causes of severe learning disability Chromosome disorders 30% Other identifiable syndromes 20% Cerebral palsy, infantile spasms, post-meningitis 20% Metabolic or degenerative diseases