Examination Paediatrics 4th edition This page intentionally left blank           Examination Paediatrics 4th edition Wayne Harris MBBS, MRCP (UK), FRACP Senior Staff Specialist in Paediatrics, West Moreton South Burnett Health Service District Senior Lecturer, Department of Paediatrics and Child Health, University of Queensland, Brisbane Sydney Edinburgh London New York Philadelphia St Louis Toronto Churchill Livingstone is an imprint of Elsevier Elsevier Australia ACN 001 002 357  (a division of Reed International Books Australia Pty Ltd)  Tower 1, 475 Victoria Avenue, Chatswood, NSW 2067 This edition © 2011 Elsevier Australia This publication is copyright Except as expressly provided in the Copyright Act 1968   and the Copyright Amendment (Digital Agenda) Act 2000, no part of this publication   may be reproduced, stored in any retrieval system or transmitted by any means (including   electronic, mechanical, microcopying, photocopying, recording or otherwise) without prior   written permission from the publisher Every attempt has been made to trace and acknowledge copyright, but in some cases this   may not have been possible The publisher apologises for any accidental infringement   and would welcome any information to redress the situation This publication has been carefully reviewed and checked to ensure that the content is as   accurate and current as possible at time of publication We would recommend, however, that   the reader verify any procedures, treatments, drug dosages or legal content described in this   book Neither the author, the contributors, nor the publisher assume any liability for injury   and/or damage to persons or property arising from any error in or omission from this publication National Library of Australia Cataloguing-in-Publication Data _ Author: Harris, Wayne Title: Examination paediatrics / Wayne Harris Edition: 4th ed ISBN: 9780729539401 (pbk.) Notes: Includes index Subjects: Pediatrics Pediatrics Examinations, questions, etc Dewey Number: 618.92 _ Publisher: Sophie Kaliniecki Developmental Editor: Neli Bryant Publishing Services Manager: Helena Klijn Project Coordinators: Geraldine Minto & Mohanambal Natarajan Edited by Geoffrey Palmer Proofread by Ian Ross Index by Annette Musker Cover design by Stan Lamond from Lamond Art & Design Internal design adapted by Stan Lamond from Lamond Art & Design Typeset by TNQ Books and Journals Pvt Ltd Printed by China Translation & Printing Services Ltd Dedication To the late Steve Irwin, the ‘Crocodile Hunter’ (22.2.1962–4.9.2006), The original Wildlife Warrior, a remarkable larger-than-life father, husband and superhero Steve Irwin was world famous for his remarkably enthusiastic efforts to educate our planet about the importance of wildlife and conservation His honours included: 1997, discovery of new species of turtle, Elseya irwini; 2000, Honorary Senior Fellowship (University of the Sunshine Coast); 2001, Centenary Medal (for global conservation); 2002, Queensland Museum Medal; 2003, Queenslander of the Year; and—posthumously—2007, baby gorilla named after Steve (Rwandan government); 2007, Adjunct Professorship (University of Queensland School of Integrative Biology); 2009, Australian Land Snail named Crikey steveirwini I will always remember Steve as my friend I was privileged to get to know him, initially as a fellow parent, where our daughters attended the same preschool and became best friends I  was always impressed with Steve: his unparalleled devotion to his family; giving freely of his time to launch a fund-raising charity month supporting the local children’s ward, appearing on local radio and giving free entry to over 150 chronic paediatric patients from my hospital to his Australia Zoo; and opening the magnificent wildlife hospital I respected his intelligence, his passion for his cause and his genuine compassion for sick children, but most of all I was touched by what a fantastic father and husband he was His enthusiasm touched the lives of, and inspired, everyone he met He is greatly missed v This page intentionally left blank           Contents Dedication  v Foreword  ix Preface  xi Preface to the first edition  xiii Acknowledgements  xv Abbreviation  xvii Introduction  xxxiii 1  2  3  4  5  Obesity  157 Normal puberty  163 Precocious puberty  164 Delayed puberty  169 Disorders of Sexual Development (virilisation in the post-­ neonatal period)  177 Thyroid disorders  182 Thyroid disorders in infants  186 Approach to the examination  The long case  The short case  14 Achievement psychology  17 Behavioural and developmental paediatrics  25 Long Cases Anorexia nervosa  25 Attention deficit hyperactivity disorder (ADHD)  35 Autistic disorder (autism)  49 Short Cases Child suspected of having ADHD  61 Child with possible autism/autistic spectrum disorder (ASD)  64 8  Gastroenterology  190 Long Cases Inflammatory bowel disease  190 Chronic liver disease (CLD)  200 Malabsorption/maldigestion  212 Short Cases Gastrointestinal system  217 The abdomen  222 Jaundice  229 Nutritional assessment  236 Failure to thrive  244 Poor feeding  246 Weight loss—older child/­ adolescent  246 6  Cardiology  67 Long Case Cardiac disease  67 Short Case The cardiovascular system  91 9  Genetics and dysmorphology  253 Long Cases Down syndrome  253 Turner syndrome  265 Short Case The dysmorphic child  277 7  Endocrinology  107 Long Cases Congenital adrenal ­hyperplasia  107 Diabetes mellitus  116 Short Cases Disorders of Sexual Development (ambiguous genitalia)  132 Diabetes  135 Short stature  136 Tall stature  150 10  Haematology  287 Long Cases Haemophilia  287 Sickle cell disease (SCD)  297 Thalassaemia: β-thalassaemia major  311 Short Cases The haematological system  321 Thalassaemia  329 vii viii Contents 11  Neonatology  332 Short Cases The neonatal examination  332 The 6-week check  337 12  Nephrology  338 Long Cases Chronic kidney disease (CKD)  338 Nephrotic syndrome  356 Short Cases Renal examination  365 Hypertension  369 Oedema  374 13  Neurology  377 Long Cases Cerebral palsy  377 Dystrophinopathies: ­Duchenne muscular dystrophy (DMD)  391 Seizures and epileptic ­syndromes  403 Spina bifida  420 Short Cases Developmental assessment  430 Eye examination  432 Motor cranial nerves  438 Neurological assessment of the ­upper limbs  439 Gait: a short-case approach  443 Neurological assessment of the lower limbs  444 Cerebellar function  447 Large head  447 Small head  450 Seizures  459 Facial weakness  462 Floppy infant  464 Hemiplegia  469 Intellectual impairment  472 Involuntary movements  475 Neurofibromatosis, type ­(NF-1)  477 Neuromuscular assessment  479 Scoliosis  480 Spina bifida  482 14  Oncology  487 Long Case Oncology  487 Short Case Late effects of oncology ­treatment  498 15  The respiratory system  503 Long Cases Asthma  503 Neonatal intensive care unit graduate: chronic lung disease/ bronchopulmonary dysplasia (CLD/BPD)  513 Cystic fibrosis (CF)  521 Obstructive sleep apnoea (OSA)  546 Short Cases The respiratory system  552 The chest  556 Stridor  556 Chest X-rays  558 16  Rheumatology  561 Long Cases Juvenile idiopathic arthritis (JIA)  561 Juvenile idiopathic inflammatory myopathies (JIIMs): juvenile dermatomyositis (JDM)  577 Systemic lupus erythematosus (SLE)  587 Short Case Joints  598 Suggested reading  604 Quick Reference Mnemonics  607 Picture Credits  623 Index  625 Foreword The fourth edition of Examination Paediatrics by Dr Wayne Harris updates this widely used text to assist paediatric trainees undertaking the current clinical examinations as part of their vocational training and qualifications Examination candidates in Australia, New Zealand, South-East Asia, the United Kingdom and North America have benefited from the previous editions over the last 18 years Next to extensive experience and practice in assessing children in clinical situations, this book equips candidates with a systematic approach to both the long- and short-case elements used in examinations The first four chapters outline the general approach to examination procedures, including interaction with examiners and practical preparation for the differing objectives of short- and long-case examinations The chapter on achievement psy­ chology is of particular relevance to those who find examination settings and experi­ ence extremely difficult Subsequent chapters highlight each of the different areas of paediatrics by subspeciality organ system As in previous editions, there is extensive use of mnemonics to assist candidates with recalling the significant issues in examining patients or discussing conditions Although the book is primarily intended for paediatric trainees, it will also be of use for others undertaking clinical examination of children, including medical students or general practice trainees The comprehensive coverage of conditions given in the text assists examination candidates to review the scope of their experience and knowledge, and identify areas where more experience or practice is needed Dr Harris (and his two co-authors of the previous first and second editions of Examination Paediatrics) has an extensive involvement in general paediatrics and examination experience, on which this book is based In this new edition, he has provided updates in important areas where understanding of causation of disease and/or treatment have changed in the last years This latest edition will prove to be an invaluable asset to those preparing for and undertaking paediatric clinic examinations, especially those in paediatric generalist or specialist vocational training Professor Allan Carmichael, OAM, MBBS (Monash), M.D (Melb), FRACP Professor of Paediatrics and Child Health Dean, Faculty of Health Science University of Tasmania ix 626 Index antiproliferatives, 353 aplastic crisis, 304 appearance, importance of, Arnold–Chiari II malformation (ACM), 425–426 arthritis see juvenile idiopathic arthritis Aspergillus in cystic fibrosis, 530 assessment of examiner, asthma, 503–513 acute treatment, 506–507 diagnosis, 505–506 examination, 505 family history, 504 history, 503–504 investigations, 505–506 management issues, 511–513 optimum management, 511 treatment, 506–511 athetosis, 475 atlanto-axial instability and Down syndrome, 264 atomoxetine, 46–47 atrial hypertrophy, 98 attention deficit hyperactivity disorder (ADHD), 35–49 alternative treatments, 48–49 background information, 35–38 behaviour in autism, 58 diagnosis, 42–43 diagnostic interviews, 43 Down syndrome and, 255 educational assessment, 42–43, 58 EEG, 43 examination, 42, 61–64 history, 41–42 introduction, 35 management, 38–41 ophthalmology evaluation, 43 prognosis, 48 rating scales, 42 short case, 61–62 treatment side effects, 64 vigilance testing, 43 see also attention deficit hyperactivity ­disorder management attention deficit hyperactivity disorder ­management medication, 45–48 non-stimulants, 46–48 school strategies, 44–45 stimulants, 45–46 auscultation, primary areas of, 93f autistic disorder (autism), 49–61 aetiology, 51–52 alternative treatments, 60 background information, 50–51 diagnosis, 54–57 diagnostic instruments, 56 autistic disorder (Continued) examination, 54, 64–66 history, 52–54 investigations, 56–57 management, 57–61 pharmacotherapeutic intervention, 58–59 screening tests, 56 short case, 64–66 treatment side effects, 66 autosomal-dominant nocturnal frontal lobe epilepsy (ADNFLE), 407 autosomal-dominant partial epilepsy with ­auditory features (ADPEAF), 408 azathioprine (AZA), 353 in Crohn’s disease, 197–198 in juvenile dermatomyositis (JDM), 585 Bardet–Biedl syndrome, 157 Barlow’s test, 336 basiliximab, 353 Beckwith–Wiedemann syndrome, 87 beclomethasone diproprionate, 507–508 behaviour management in autism, 59 in Down syndrome, 262 benign epilepsy with centrotemporals spikes (BECTS), 406 benign familial neonatal seizures (BFNS), 404 benign familial neonatal–infantile seizures, 404 benign infantile seizures, 404 benign rolandic epilepsy, 406 beta-2 agonists, 506, 509 beta-thalassaemia major, 311–321 background information, 311–314 blood transfusion, 315–316 chelation, 316–317 diagnosis, 312 examination, 315 gene therapy, 319 genetics, 312 haematopoietic cell transplantation (HCT), 310–311, 318–319 history, 314–315 management, 315–317 management issues, 317–321 preimplantation genetic diagnosis (PGD), 320 prenatal diagnosis, 319 prognosis, 320–321 splenectomy, 317 biliary tract disease in cystic fibrosis, 540–541 biological agents for chronic kidney disease, 353 for juvenile dermatomyositis (JDM), 585 for juvenile idiopathic arthritis, 572–573 birth asphyxia, 378 bladder function in spina bifida, 423–424 Blalock–Taussig shunt, 106f bleeding, 329 Index 627 blepharoptosis see ptosis blood tests ambiguous genitalia, 135 anorexia nervosa, 29 autism, 56–57 beta thalassaemia, 320 chronic hepatitis, 203 cystic fibrosis, 528 delayed puberty, 176–177 for nephrotic syndrome, 362 hyperthyroidism, 184 hypothyroidism, 185 juvenile idiopathic arthritis, 568 precocious puberty, 167 small head, 458 blood transfusion in sickle cell anaemia, 315–316 body language, body mass index (BMI), 158f bone density assessment (DEXA) in IBD, 195 bone disease anorexia nervosa, 34 chronic kidney disease – mineral and bone disorder (CKD-MBD), 346–347 Duchenne’s muscular dystrophy, 399–400 bone examination in systemic lupus ­erythematosus, 589, 591–592 bone marrow transplantation (BMTx), 496 bones, large, 448 botulinum toxin A (BTX-A), 384–385 bowel function and spina bifida, 424 bradycardia, 82–83, 521 brain, large, 448 breast development, 164 breath control, bronchodilators in asthma, 519 in cystic fibrosis, 532 bronchopulmonary dysplasia (BPD), 513–521 Brugada syndrome, 84–85 BSL monitoring, 126 budesonide (BUD), 507–508 bupropion, 48 Burkholderia cepacia infection, 536 calcineurin inhibitors, 353–354 calcinosis, 578–580, 586 calcium supplementation in chronic kidney disease, 347 cardiac assessment, 222 cardiac cycle, 97f cardiac disease, 67–91 beta-thalassaemia major and, 313 Duchenne’s muscular dystrophy and, 401 examination, 69 hemiplegia and, 469 management issues, 69–91 history, 67–69 nephrotic syndrome and, 360 cardiac disease (Continued) systemic lupus erythematosus, 595–596 see also cardiac disease management; ­cardiovascular system examination cardiac disease management, 69–91 Down syndrome and, 260–261 infection, 71 social issues of, 71–73 specific problems, 73–91 subacute bacterial endocarditis risk, 70–71 transplantation, 88–90 Turner’s syndrome and, 273–274 cardiac imaging, 91 cardiac transplantation, 88–90 cardio-facial-cutaneous (CFC) syndrome, 77 cardiomyopathy dilated, 85–86 hypertrophic, 72, 75, 86–87, 92–93 cardiopulmonary therapeutic modifications, 497 cardiorespiratory examination neonatal, 335 for systemic lupus erythematosus, 590 cardiovascular disease see cardiac disease cardiovascular system examination, 91–99, 95f, 96t chest X-ray, 94 electrocardiography, 94–99 in obstructive sleep apnoea, 550 cataract, 433 central venous access devices (CVADs), 295, 494 cerebellar function assessment, 447 in systemic lupus erythematosus, 589 cerebral abscess, 71 cerebral infarction and sickle cell disease, 301 cerebral oedema and DKA, 131–132 cerebral palsy (CP), 377–390 background information, 377–380 causes, 377–378 classification, 377 diagnostic assessment, 378–380 examination, 381–382 history, 380–381 investigations, 382–383 management, 381, 383–390 prognosis, 390 spasticity management, 384–386 cerebrospinal fluid screening in systemic lupus erythematosus, 591 Charcot–Marie–Tooth disease, 443, 480–481 chelation with deferasirox (DFS), 316–317 with desferrioxamine, 316 with dimercaptosuccinic acid (DMSA), 60 628 Index chemotherapy, 491–492 antiemetics and, 495 ongoing, 493 chest examination, 556 chest physiotherapyin cystic fibrosis, 531–532 chest roentgenography, 559f chest X-ray (CXR) in cardiac disease, 94 in asthma, 505 in irritable bowel disorder, 196–197 childhood absence epilepsy (CAE), 407 cholestatic diseases, 201 chorea, 475 chromosome 22q11.2 Deletion Syndrome, 78–79 chronic active hepatitis, 190–191, 208, 221, 593 chronic haemolytic anaemia, 228, 308–309 chronic hepatitis, 203–204 chronic kidney disease (CKD), 338–339 background information, 339–340 examination, 342, 365–366 genetic counselling, 356 glomerular filtration rate (GFR), 340 history, 341–342 rate of evolution, 341 spina bifida and, 424 stature (growth), 347–352 chronic kidney disease management, 342–356 acid–base balance, 346 allograft loss, 355 bone disease and, 346–347 immunosuppressive therapy, 352–355 monitoring, 356 salt–fluid balance control, 344–346 serum potassium control, 343–344 transplantation (RTx), 351–352 chronic liver disease (CLD), 200–212, 205f cholestatic, 201 chronic hepatitis, 203–204 cystic fibrosis and, 540–541 examination, 204 history, 204 investigations, 205 management, 205–207 metabolic, 201–203 see also liver transplantation chronic lung disease (CLD), 513–521 examination, 516, 517t–518t growth and development, 519 history taking, 515–516 management, 516–521 nutrition, 519 prognosis, 521 chronic myeloid leukaemia (CML), 496 Chvostek’s sign, 244 ciclesonide, 507–508 clinical examination equipment, clinical examination preparation, 5–6 clonidine, 47 coagulopathy, 207 Cobb angle, 483f coeliac disease, 214 Down syndrome and, 263 Turner’s syndrome and, 276 cognitive/learning and communication in cerebral palsy, 388–389 colobomata, 433 colour, neonatal examination and, 333–334 commitment, 18 congenital adrenal hyperplasia (CAH), 107–116 acute adrenocorticol insufficiency, 115–116 background information, 107–108 diagnosis, 108–110 examination, 111 history, 110–111 management, 111–114 neonatal diagnosis, 109 preimplantation genetic diagnosis, 109 prenatal diagnosis/intervention, 108–109, 114–115 congestive cardiac failure (CCF), 87–88 and chronic kidney disease, 356 congestive cardiac failure, 69, 71, 72, 73 constipation in anorexia nervosa, 28 in Down syndrome, 265 continuous positive airway pressure (CPAP), 507 continuous spike-and-wave during sleep (CSWS) epilepsy, 407 contraception and cardiac disease, 73 contraceptive pills, 593 contrast-enhanced ultrasound in, 198 coordination lower limb, 446 upper limb, 442 cor pulmonale, 533 cord blood transplantation (CBT), 496–497 coronary artery disease, 89 coronary atherosclerosis and IDDM, 129 corticosteroids in asthma, 506–508 in congenital adrenal hyperplasia, 112–114 in Crohn’s disease, 196–197 in haemophilia, 292 in juvenile dermatomyositis (JDM), 581–584 in juvenile indiopathic arthritis, 569–572 in nephrotic syndrome, 362–363 in systemic lupus erythematosus, 593 Costello syndrome, 77 COX-2 inhibitors in juvenile idiopathic ­arthritis, 570 cranial nerves, 438–439 in systemic lupus erythematosus, 589 craniofacial problems in Turner’s syndrome, 276 Index 629 craniosynostosis, 453–454, 458 Crohn’s disease (CD), 190, 196–198, 217 cromolyns, 507 cromones, 508 cry, neonatal, 333–334 Cushing’s syndrome, 135 cyclophosphamide (CPA) in juvenile dermatomyositis (JDM), 585 cyclosporine (CSA) in juvenile dermatomyositis (JDM), 585 in ulcerative colitis, 199 cystic fibrosis (CF), 203, 521–545 adolescence, 543 end-of-life care, 536 examination, 524–528, 525t–527t fertility and, 543 gastrointestinal disease, 523 gastrointestinal disease treatment, 537–542 genetics, 521–522 growth, 543 history, 522–524 hospitalisation, 529 investigations, 528–529 lung disease treatment, 529–537 lung transplantation option, 533–536, 545 management, 529–545 management issues, 544 microbiology, 529–530 monitoring, 528 musculoskeletal complications, 542 prognosis, 545 respiratory disease, 522–523 cystic fibrosis-associated liver disease (CFLD), 540–541 cystic fibrosis related bone disease (CFR-BD), 542–543 cystic fibrosis related diabetes (CFRD), 521, 529, 538 cytotoxic drugs in systemic lupus ­erythematosus, 594 dactylitis, 302–303 death, 497–498 deferasirox (DFS), 316–317 delayed puberty, 169–177, 172f examination, 171–176 investigations, 176–177 ulcerative colitis and, 199–200 deletions, 75f dental problems in cerebral palsy, 389 in Down syndrome, 262 in haemophilia, 297 in heart disease, 70 in Turner’s syndrome, 276 desferrioxamine, 316 desipramine, 47–48 desmopressin for haemophilia, 291–292 developmental assessment, 430–432 for attention deficit hyperactivity disorder, 63 for autistic disorder (autism), 65–66 dexamphetamine, 45–46, 58 diabetes mellitus, 116–132 background information, 116–117 complications, 117, 127–129 diagnosis, 118 examination, 119, 135–136, 137f history, 118–119 monitoring and control, 126–127 screening and intervention, 131 diabetes mellitus management, 119–132 diet and, 125 Down syndrome and, 265 exercise and, 125–126 glycaemic index (GI), 122 insulin therapy and, 120–121 problem areas, 122–123 diabetic ketoacidosis (DKA), 131–132 diagnostic interviews for attention deficit ­hyperactivity disorder, 43 dialysis, 350–351 see also chronic kidney disease DIDMOAD test, 135 diet see nutrition dilated cardiomyopathy (DCM), 85–86 disease modifying antirheumatic drugs (DMARDs), 570–571 diuretics, 520 dolichostenomelia, 74–75 Doose syndrome, 406 Dornase alfa, 532 double-contrast barium enema in IBD, 196–198 Down syndrome (DS), 253 background information, 254 diagnosis, 254 examination, 256, 257t–260t history, 254–256 management issues, 256–265 Dravet syndrome, 405 dress, drug allergies in cystic fibrosis, 543 drug toxicity, 494 Duchenne’s muscular dystrophy (DMD), 391–403 background on genetics of, 391–394 carrier females, 402–403 equipment for, 398–399 examination, 395–397 genetic counselling, 403 history, 394–395 living with, 402 management, 397–399 medical problems, 399–402 therapies, 398–399 630 Index dying child, 497–498 dysmorphic child, 277 definitions, 277 examination, 278–280, 281t–286t manoeuvres for, 279–280, 281t–286t measurements for, 278–279, 281t–286t skin evaluation, 280 dysmorphology examination, 277, 280, 281t–286t for attention deficit hyperactivity disorder, 62 for autistic disorder (autism), 65 dysphagia in cerebral palsy, 387 in juvenile dermatomyositis, 578–579, 581–584, 586 dystonia, 475 ear examination for attention deficit hyperactivity disorder, 63 for autistic disorder (autism), 65 see also hearing impairment early myoclonic encephalopathy (EME), 404 ectopia lentis, 433 education asthma and, 512 attention deficit hyperactivity disorder and, 37–38, 42–43 autism and, 57–59 cardiac disease and, 72 cerebral palsy and, 388–390 chronic kidney disease, 342, 355 cystic fibrosis and, 544 Duchenne’s muscular dystrophy and, 402 epilepsy and, 402, 414–415 Marfan’s syndrome and, 73 oncology and, 491 Turner’s syndrome and, 277 eformoterol fumarate dihydrate, 509 elbow examination, 601 electrocardiography, 94–99 electroencephalogram (EEG) in epilepsy, 412 embolism and nephrotic syndrome, 360 encephalopathy, 206 epileptic, 407 end-stage renal disease (ESRD), 361 endocarditis, 70 endocrine failure in beta-thalassaemia, 313 endocrine involvement in systemic lupus ­erythematosus, 597 endocrine therapeutic modifications, 497 endoscopy, 195 enthesitis-related arthritis (ERA), 564 epilepsy, 403–420 adolescence–adult, 408–409 background information, 403–409 biochemical evaluation, 412 childhood, 405–407 electroencephalogram (EEG), 412 epilepsy (Continued) examination, 412 genetic counselling, 403 history, 410–412 infancy, 404–405 intractable, 413–414, 418 investigations, 412–413 neonatal period, 404 psychosocial issues, 420 spina bifida and, 428 see also epilepsy management epilepsy management, 413–420 anticonvulsant medications, 415–418 first non-febrile, 419–420 intractable, 418 prolonged seizure, 419 surgical treatment, 418–419 with generalised tonic–clonic seizures alone, 408 equanimity, equipment, clinical examination, erectile problems, 303 erythrocytapheresis, 306 erythropoiesis, excess, in beta-thalassaemia, 312 erythropoietin, 319 etanercept (ETN) in juvenile idiopathic ­arthritis, 572–573 examination approach, 1–6 clinical, 5–6 physical, examiner assessment, examiners, preparation to meet, 8–9 exclusive enteral nutrition in Crohn’s disease, 196–197 exercise and cardiac disease, 72 and haemophilia, 297 and insulin, 125–126 extrahepatic biliary atresia (EHBA), 201 extramuscular disease, 586 eye, 432–434 in attention deficit hyperactivity disorder, 43, 63 in autistic disorder (autism), 57, 65 in cerebral palsy, 389 in Down syndrome, 261 examination, 432–438 in juvenile idiopathic arthritis, 575 in systemic lupus erythematosus, 589 in Turner’s syndrome, 275 eye contact, 2–3 facial weakness, 462–464 failure, 23–24 failure to thrive, 244–246 Fallot tetraology, 105f familial dilated cardiomyopathy, 85–86 familial hypertrophic cardiomyopathy, 86–87 febrile neutropenic episodes, 494 Index 631 feeding, poor, 246 feet examination, 603 fertility and cystic fibrosis, 543 fetal haemoglobin augmentation, 319 fibrosing colonoscopy, 542 floppy infant, 464–469, 465f, 466t–467t, 468f fluid balance and chronic lung disease, 520 fluoroscopic barium studies in IBD, 194 fluticasone propionate (FP), 507–508 fresh frozen plasma (FFP), 292 Friedreich’s ataxia, 135 Fröhlich’s syndrome, 157 functioning neuro-imaging, 413 gabapentin, 418 gait analysis, 443–444 for cerebral palsy, 384 for hemiplegia, 470 for muscular dystrophy, 395–396 for systemic lupus erythematosus, 589 Galant reflex, 431 gastroenterological surgery, 70 gastrointestinal disease in cerebral palsy, 387 in cystic fibrosis and, 523, 537–542 in systemic lupus erythematosus and, 597 in Turner’s syndrome and, 276 gastrointestinal system examination, 217–222, 218f, 219t–221t gene therapy, 311, 319 generalised epilepsy with FS+, 405 genetic counselling cardiac disease, 72 chronic kidney disease, 356 Duchenne’s muscular dystrophy, 403 epilepsy, 415 haemophilia, 297 sickle cell disease, 309 genetics beta-thalassaemia major, 312 cystic fibrosis, 521–522 Down syndrome (DS), 254 epilepsy, 403 spina bifida, 429 Turner’s syndrome, 265–277 genital development in boys, 164 genital examination in neonates, 335 genitourinary therapeutic modifications, 497 glomerular filtration rate, 340 glomerulonephropathies, 358 see also nephrotic syndrome glucocorticoids in congenital adrenal ­hypoplasia, 112 gluten, 60 glycaemic index (GI), 122 glycosylated albumin (fructosamine), 126 glycosylated haemoglobin, 126 goal-setting, 19–20 gonadarche, 163 Gowers sign, 396f graft-versus-host disease (GVHD), 492–493, 495 Graves’ disease, 183–184, 186, 276 grooming, gross motor assessment, 63, 65–66, 430, 470, 558 growth and development attention deficit hyperactivity disorder and, 62 autistic disorder (autism), 65 chronic kidney disease and, 347–352 chronic lung disease and, 519 cystic fibrosis, 543 heart disease, 69–70 neonatal examination, 333–334 nephrotic syndrome and, 360 oncology, 490–491 Turner’s syndrome and, 274–275 growth hormone deficiency, 496 haemangiomata, 337 haemarthrosis, 289 haematological assessment, 323f, 324t–328t haematological disorders and Down syndrome, 263–264 haematological examination, 321–322 haematopoietic stem cell transplantation (HSCT), 310–311, 318–319, 495 haemolytic anaemia, 308–309 haemolytic crisis, 303 haemophilia, 287 age-related presentation, 288–289 complications, 289 definitions, 287–288 examination, 290–291 history, 289–290 immunisation and, 290, 297 manifestations, 288 treatment modalities, 291–292 haemophilia management, 292–297 analgesic abuse, 293 central venous access devices (CVADs), 295 elective surgery, 295–296 home treatment, 294–297 inhibitors and immune tolerance therapy, 296 joint involvement and synovectomy, 293–294 neurological sequelae, 293 prophylaxis, 294–295 haemopoietic stem cell transplantation, ­autologous (HSCT), 573 haemoptysis, 533 haemorrhage acute, 292 variceal, 206–207 hair examination in systemic lupus ­erythematosus, 589 hand examination, 600–601 632 Index hand–foot syndrome, 302–303 haploidentical transplantation, 496–497 Hashimoto’s thyroiditis, 183 head examination attention deficit hyperactivity disorder, 62 hemiplegia, 470–471 large head, 447–450, 449f, 451t–452t neonatal, 334–335 small head, 454–457, 455t–457t hearing impairment cerebral palsy and, 389 Down syndrome and, 261 Turner’s syndrome and, 275 hemiballismus, 476 hemiplegia, 469–471 hepatic vascular compromise, 210 hepatitis C, 319 hepatomegaly, 223–227 hepatosplenomegaly, 227 hereditary fructose intolerance (HFI), 203 hip examination, 602 history taking, 7–8 history taking prompts, 12t HIV, 321 home BSL monitoring, 126 hydrocephalus, 424–425 hydroxychloroquine in systemic lupus ­erythematosus, 594 hydroxyurea, 307–308, 319 hyperkalaemia, 343–344 hyperlipidaemia and nephrotic syndrome, 360 hyperparathyroidism, 346–347 hypertension cardiac disease, 89–90 chronic kidney disease and, 344–345 examination, 373f nephrotic syndrome and, 364 renal disease and, 369–374, 370t–372t systemic lupus erythematosus and, 595 hyperthyroidism, 186–189 hypertrophic cardiomyopathy, 72, 75, 86–87, 92–93 hypertrophic obstructive cardiomyopathy, 86–87 hypertrophic pulmonary osteoarthropathy (HPOA) in cystic fibrosis, 542 hypocalcaemia and nephrotic syndrome, 360 hypoglycaemic episodes, 122–123, 132 hypokalaemia, 28, 71, 82, 132, 197 hypopituitarism, 157, 170–171, 452–454, 490 hypothyroidism, 183 infants, 112, 186 investigations, 185–186 nephrotic syndrome, 360 short stature, 183 hypoxic ischaemic encephalopathy, 378 idiopathic dilated cardiomyopathy, 85–86 idiopathic generalised epilepsy, 408 idiopathic hypertrophic subaortic stenosis, 86–87 idiopathic inflammatory myopathies (IIMs) see juvenile dermatomyositis idiopathic nephrotic syndrome, 358–359 see also nephrotic syndrome imipramine, 47–48 immune tolerance therapy, 296 immunisation autism and, 54 beta-thalassaemia major and, 317 cardiology and, 29 chronic lung disease and, 520 cystic fibrosis and, 524, 536 diabetes mellitus, 119 Down syndrome and, 256 haemophilia and, 290, 297 nephrotic syndrome and, 363 oncology and, 492–493 sickle cell disease and, 301 Turner’s syndrome, 268 immunoglobulin, 492, 505–506, 568, 584 immunosuppressive therapy for chronic renal failure, 352–355 infant gross motor assessment, 470 infarctive crises, 302 infection beta-thalassaemia and, 314 cardiac disease and, 71 chemotherapy and, 491–492 juvenile idiopathic arthritis, 576 liver transplantation and, 209–210 nephrotic syndrome and, 359 oncology and, 491–492 inflammation control in arthritis, 569–574 inflammatory bowel disease (IBD), 190 examination, 191 history, 190–191 imaging, 194–195 investigations, 193–195 management, 195–200 Turner’s syndrome and, 276 Infliximab, 573 in Crohn’s disease, 196–198 inhaled corticosteroids (ICS), 507–508 inhalers, power, for asthma, 510 insulin, 120–121 insulin-dependent diabetes mellitus (IDDM) see type diabetes mellitus insulin pens, 125 insulin pumps, 123–125 insulin types, 121–122 intellectual impairment, 472–475 intervention and autism, 59–60 intervention programs and cerebral palsy, 390 intrathecal baclofen (IT-BLF), 385 intrauterine infection, 61, 64–65 intravascular sickling, 308 intravenous immunoglobulin (IVIG) in juvenile dermatomyositis (JDM), 585 Index 633 intravenous methylprednisolone pulses (IVMP), 581–584 involuntary movements, 475–477 iris conditions, 433 jaundice, 229–236 in infants, 229–232, 230f, 233t–234t in older children, 232–236, 237t–239t jaw examination, 601–602 Jervell and Lange–Nielsen syndrome, 83–84 Johanson–Blizzard syndrome, 212 joint examination, 598–603 for systemic lupus erythematosus, 589, 596 juvenile absence epilepsy, 408 juvenile dermatomyositis (JDM), 577–586 background, 577–579 examination, 581, 582t–584t extramuscular disease, 586 history, 579–581 life-threatening disease, 586 management, 581–586 prognosis, 586 juvenile idiopathic arthritis (JIA), 561–577 analgesia, 574 complications, treatment of, 575–576 current classification, 562–565 deformity prevention, 575 diagnosis, 567 enthesitis-related arthritis (ERA), 564 examination, 567 extended oligoarthritis, 562 history, 565–567 investigations, 568–569 joint function maintenance, 574–575 management, 569–576 measures, 561 nutrition, 576 oligoarthritis, 562 patient education, 576 persistent oligoarthritis, 562 polyarthritis RF-negative, 562–563 polyarthritis RF-positive, 563 presentation of long case, 565 prognosis, 577 psoriatic arthritis (JPsA), 564–565 psychosocial health, 576 rehabiliation, 576 systemic, 563 undifferentiated, 565 juvenile idiopathic inflammatory myopathies (JIIMs), 577–586 background, 577–579 examination, 581 extramuscular disease, 586 history, 579–581 life-threatening disease, 586 management, 581–586 prognosis, 586 juvenile myoclonic epilepsy, 408 Kallmann’s syndrome, 150, 160–163, 170–171 kidneys and sickle cell disease, 301 Klinefelter’s syndrome, 170–171 knee examination, 603 kyphosis, 427 in cystic fibrosis, 542 lamotrigine (LTG), 417 Landau reflex, 431–432 Landau–Kleffner syndrome, 407 large head, 447–450, 449f, 451t–452t leflunomide in juvenile idiopathic arthritis, 571 left-ventricular outflow tract obstruction (LVOTO), 92 Lennox–Gastuat syndrome, 406–407 Leopard syndrome, 77 leukaemia and Down syndrome, 263–264 leukotriene modifiers (LTMs), 508–509 levamisole in nephrotic syndrome, 363 levetiracetam (LEV), 417 liver disease see chronic liver disease liver function test (LFT) in anorexia nervosa, 30 in chronic hepatitis, 203 in cystic fibrosis, 529 in inflammatory bowel disease, 193 in jaundice, 236 in juvenile idiopathic arthritis, 570 in malabsorption, 216 liver involvement in systemic lupus ­erythematosus, 597 liver transplantation (LTx), 207–212, 297 long case, 7–13 obtaining history, 7–8 physical examination, preparation for examiners, 8–9 proforma, remaining history, 10–13 long QT syndrome (LQTS), 67, 82 lower limb examination, 602–603 hemiplegia, 470 neonata, 336 neurological, 444–446 Lown–Ganong–Levine (LGL) syndrome, 82 lung disease sickle cell disease, 302 treatment, 529–537 lung transplantation and cystic fibrosis, 533–536 lymphatic abnormalities and Turner’s ­syndrome, 274 lymphoproliferative disease, 209, 535 macrocytic anaemia, 329 macrovascular complications and IDDM, 129 Mahaim-type SVT, 82 malabsorption/maldigestion, 212–217 aetiology, 212–213 coeliac disease, 214 examination, 215 634 Index malabsorption/maldigestion (Continued) history, 214–215 investigations, 215–217 mechanisms of, 213 Mantoux test, 195 Marfan’s syndrome, 73–75, 74f, 110 McCune–Albright syndrome, 150, 165 mechanical ventilation, 507 in obstructive sleep apnoea, 552 meconium ileus, 540 meconium ileus equivalent, 540 melatonin, 59 menarche, 150–151, 163 mental toughness, 23 mesial temporal lobe epilepsy with hippocampal sclerosis, 409 metabolic bone disease and ulcerative colitis, 200 methotrexate (MTX) in Crohn’s disease, 197–198 in juvenile dermatomyositis (JDM), 584–585 in juvenile idiopathic arthritis, 571 methylphenidate (MPH), 45–46, 58 microcytic anaemia, 328 microencephaly, 453–454 microvascular complications in cystic fibrosis, 538 in diabetes mellitus, 127–128 migrating partial seizures of infancy, 404 mindset, 1–2, 17 see also achievement psychology mineralocorticoids in congenital adrenal ­hypoplasia, 112 minimal change disease (MCD), 358 mixed salts amphetamine (ER), 46 molecular tests for Duchenne muscular ­dystrophy, 392 mometasone, 507–508 monoclonal antibodies, 353 Moro reflex, 431–432, 470 motor cranial nerves, 438–439 mouth care in cancer, 494 mouth examination for attention deficit ­hyperactivity disorder, 63 MR enterography (MRE) in IBD, 195 MRSA (methicillin-resistant Staphylococcus aureus) in cystic fibrosis, 530 mucolytic treatment in cystic fibrosis, 532 mucous membrane examination in systemic lupus erythematosus, 589 muscle power in Duchenne’s muscular ­dystrophy, 396 muscular dystrophy see Duchenne’s muscular dystrophy musculoskeletal complications in cystic fibrosis, 542 mycophenolate mofetil (MMF), 90, 352–353, 594 in nephrotic syndrome, 363 myelodysplastic syndrome (MDS), 495 myocardial disease, 85–87 myocarditis, 563, 581–584, 595–598 myoclonic absence epilepsy (MAE), 406 myoclonic encephalopathy in non-progressive disorders, 404 myoclonic epilepsy in infancy (MEI), 404 myoclonus, 476 nausea in csytic fibrosis, 541 nebuliser therapy in asthma, 506, 510 in cystic fibrosis, 532 neck examination, 334–335, 601–602 in attention deficit hyperactivity disorder, 63 nedrocromil sodium, 508 negativism, 17 neonatal diagnosis of congenital adrenal ­hyperplasia (CAH), 109 neonatal examination, 332–333 6-week, 337 abdomen, 335 cardiorespiratory system, 335 colour, 333–334 cry, 333–334 genitalia, 335 growth, 333–334 head, 334–335 hips, 335–336 lower limbs, 336 movements, 333–334 neck, 334–335 nervous system, 336 posture, 333–334 respirations, 333–334 sickle cell disease, 309–310 skin, 337 spine, 336 systematic (head to toe), 334–337 systematic, 334–337 upper limbs, 334–335 neonatal lupus, 587, 591, 593, 597–598 neoplasia, 90 nephropathy and IDDM, 128 nephrotic syndrome, 9, 10t, 356–365 aetiology, 357–358 complications of, 359 definitions, 357 examination, 361 history, 361 idiopathic, 358 management, 361–365 investigations, 361–362 prognosis, 365 treatment, 362–365 nervous system neonatal examination, 336 neural tube defects (NTDs), 420 neurofibromatosis type (NF1), 477–479 neurofibromatosis—Noonan syndrome, 77 Index 635 neurological assessment, 221–222 attention deficit hyperactivity disorder, 63 autistic disorder (autism), 65 lower limbs, 440t obstructive sleep apnoea, 550 systemic lupus erythematosus, 589 upper limbs, 439–443 neurological therapeutic modifications, 497 neuromuscular assessment, 479–480 neuropathy and IDDM, 128 neurophysiological studies, 43, 57, 475, 592 neuropsychiatric systemic lupus erythematosus, 596 non-cardiac surgery, 71 non-salt-losing congenital adrenal hypoplasia, 112 non-steroidal anti-inflammatory drugs (NSAIDs) for cystic fibrosis, 542 for juvenile idiopathic arthritis, 570 for sickle cell pain, 310 for systemic lupus erythematosus, 594 Noonan’s syndrome (NS), 67, 75–77 normocytic anaemia, 328–329 nutrition anorexia nervosa, 34 assessment, 236–244, 240f, 241t–243t attention deficit hyperactivity disorder, 49 autism, 60 cerebral palsy and, 387 chronic liver disease and, 206 chronic lung disease and, 519 gastrointestinal disease and, 538–539 in chronic kidney disease, 348–349 juvenile idiopathic arthritis and, 576 nephrotic syndrome, 365 nystagmus, 436 obesity, 159f Down syndrome and, 262 Duchenne’s muscular dystrophy and, 402 examination, 157–163, 160t–163t observation for, 157 Turner’s syndrome and, 276 obstructive airways disease, 519 obstructive sleep apnoea (OSA), 546–552 background information, 546–547 diagnosis, 547–548 Down syndrome and, 263 examination, 550–551 history, 548–550 management, 551–552 medical therapies, 552 surgical procedures, 551–552 occupational therapy cerebral palsy, 383–384 Duchenne’s muscular dystrophy, 398 juveile idiopathic arthritis, 576 oedema examination, 374–376, 375f nephrotic syndrome and, 359, 364 oesophageal varices, 206–207 Ohtahara syndrome, 404 oligoarthritis, 562 omalizumab, 510 oncology, 487–502 examination, 489 febrile neutropenic episodes, 494 growth and development, 490–491 history, 488–489 immunisation, 492–493 infection, 491–492 late effects of, 498, 499t–502t management plan, 489–498 ongoing chemotherapy, 493 relapse of primary disease, 490 second tumour development, 491 social issues, 491 optic nerve hypoplasia, 433 orthopaedic problems in Down syndrome, 264 orthopaedic procedures for cerebral palsy, 386 for Duchenne’s muscular dystrophy, 399 orthopantomogram (OPG) in juvenile idiopathic arthritis, 569 orthoses for cerebral palsy, 383–384 Ortolani’s test, 336 osteoporosis, 90 in juvenile dermatomyositis (JDM), 586 Turner’s syndrome and, 276 oxcarbazepine (OXC), 417 Paediatric Crohn’s Disease Activity Index (PCDAI), 196 pain in cerebral palsy, 389–390 palpation lower limb, 449f upper limb, 441 pancreatic insufficiency (PI), 537–538 papilloedema, 436 parachute reflex, 382, 431–432, 470 paralysis, 422–423 paralytic strabismus, 434 peak expiratory flow (PEF), 505 peripheral vascular disease, 129 phosphate, control serum, 346–347 physical examination, long case, physiotherapy cerebral palsy, 383–384 Duchenne’s muscular dystrophy, 576 juvenile idiopathic arthritis, 576 plain radiography in IBD, 195 in juvenile idiopathic arthritis, 568–569 pMDIs, 511 pneumothorax, 533 636 Index polyarthritis RF-negative, 562–563 polyarthritis RF-positive, 563 polyclonal antibodies, 353 poor feeding, 246 portal hypertension, 206–207 positive mindset, 1–2, 17 positron emission tomography (PET) in IBD, 195 post-transplant lymphoproliferative disease (PTLD), 209 posture, neonatal examination, 333–334 power inhalers for asthma, 510 power lower limb, 445–446 upper limb, 441 Prader–Willi syndrome, 157 precocious puberty, 164–169, 166f examination for, 127t, 173t–176t investigations, 167–169 pre-emptive transplantation (PET), 351 pregnancy and cardiac disease, 72 and sickle cell disease, 309 preimplantation genetic diagnosis (PGD), 320 of congenital adrenal hyperplasia (CAH), 109 prenatal diagnosis, 319 of congenital adrenal hyperplasia (CAH), 108–109, 114–115 pretransplantation native nephrectomy, 352 priapism, 303 professional presentation, 18 prognostic predictors in juvenile dermatomyositis (JDM), 586 progressive familial intrahepatic cholestasis disorders (PFIC), 201 progressive myoclonus epilepsies (PME), 408 prosthetic heart valves, 70, 73 pruritus, 207 Pseudomonas aeruginosa in cystic fibrosis, 529, 531 psoriatic arthritis (JPsA), 564–565 psychiatric issues in Down syndrome, 262 psychological support in congenital adrenal hypoplasia, 113–114 in diabetes mellits, 129–130 psychology see achievement psychology psychosocial aspects of Turner’s syndrome, 276–277 ptosis, 432 pubarche, 163 puberty normal, 163–164 Tanner staging, 111, 114, 164–165, 223 Turner’s syndrome and, 275 see also delayed puberty; precocious puberty pubic hair, 170 pulmonary adventitious sounds, 92 pulmonary atresia with intact ventricular septum, 103f pulmonary infections oncology and, 494 systemic lupus erythematosus and, 596 pulmonary stenosis, 77f purpose, 18 QRS and Q wave abnormalities, 99 Rasmussen syndrome, 33 reasoning skills, recombinant human erythropoietin and chronic kidney disease, 349–350 recombinant human growth hormone (rhGH) in chronic kidney disease, 348 in cystic fibrosis, 543 rectal prolapse, 540 reflexes lower limb, 446 upper limb, 442 renal enlargement, 228–229 renal examination, 365–366, 366t–367t, 368f renal function and cardiac disease, 90 and spina bifida, 423–424 and systemic lupus erythematosus, 594–595 and Turner’s syndrome, 275 see also chronic kidney disease renal osteodystrophy in chronic kidney disease, 346–347 in spina bifida, 424 renal transplantation (RTx), 351–352 respiratory assessment, 222 neonatal, 333–334 respiratory problems in cerebral palsy, 387 respiratory system examination, 552–553, 555t–556t in obstructive sleep apnoea, 550 restrictive lung disease (RLD), 400–401 retina conditions, 433–434 retinopathy and diabetes, 127–128, 436 and sickle cell disease, 302 retinopathy of prematurity (ROP), 433–434 rickets, 346–347 risk adapted therapy, 497 risperidone, 59 Rituximab, 573 roentgenography, chest, 559f Romano–Ward syndrome, 83 Romberg’s sign, 244, 444 RSV immune prophylaxis, 520 Russell–Silver syndrome, 139, 141, 165 sacroiliac joint examination, 602 salivation, excessive, 387–388 salmeterol xinofoate, 509 salt balance in chronic liver disease, 206 in cystic fibrosis, 539 Scedosporium apiospermum in cystic fibrosis, 530 Index 637 SCH1A-related seizure disorders, 409–410 schooling see education Schwachman–Diamond syndrome, 217 scoliosis Duchenne’s muscular dystrophy, 399 examination, 480–482 spina bifida, 425, 427 screening autism, 56 coeliac disease, 127 congenital adrenal hyperplasia, 109–168 cystic fibrosis, 528 diabetes mellitus, 131 hypothyroidism, 186–189 lipid disorders, 127 nephropathy, 128 retinopathy, 128 systemic lupus erythematosus, 590–591 thyroid disease, 127 second malignancy, 497 seizures cerebral palsy, 388 Down syndrome, 264 examination for, 459–460 recurrent, 459–460, 459f, 460t–462t see also epilepsy selective dorsal rhizotomy (SDR), 386 selective serotonin reuptake inhibitors (SSRIs), 58–59 self-injury and autism, 59 self-motivation, 17 self-talk, 20–21 sensation lower limb, 446 upper limb, 442 sepsis in CLD, 207 in sickle cell anaemia, 300–301, 310 serotonin syndrome, 58–59 serum phosphate control, 346–347 severe myoclonic epilepsy in infancy (SMEI), 405 sexual development disorders, 177–182 see also puberty short case, 14–16 short stature, 136–149, 143t–149t aetiologies, 141 endocrine system and, 149 examination, 139, 140f investigations, 140–141, 143t manoeuvres, 138–139, 152t measurements, 138, 142f, 152t observation, 136–138, 140f, 142f shoulder examination, 601 Shwachman–Diamond syndrome, 212, 245, 247 sialorrhoea, 387–388 sickle cell anaemia (SCA), 299 sickle cell disease, 297–311 background information, 298–304 basic defect, 298 definitions, 298–299 diagnosis, 299 examination, 305 history, 304–305 management, 306–311 sinonasal disease in cystic fibrosis, 536–537 sirolimus, 353 skin in attention deficit hyperactivity disorder, 63 in autistic disorder (autism), 65 in dysmorphic child, 280 in juvenile dermatomyositis (JDM), 586 in neonatal, 337 in spina bifida, 427–428 in systemic lupus erythematosus, 589, 596–597 sleep disordered breathing (SDB), 427 sleep disorders in autism, 59 in cerebral palsy, 388 slipped capital femoral epiphysis (SCFE), 160–163 small bowel bacterial overgrowth (SBBOG) in cystic fibrosis, 541 small head, 450–458 craniosynostosis, 453–454, 453t, 458 examination, 454–458, 455t–457t investigations, 458 microencephaly, 453–454 sodium cromoglycate, 508 spacing devices for asthma, 510 spasticity management, 384–386 special management strategy for autism, 57 see also autistic disorder (autism) speckle tracing echocardiography (STE), 67 speech examination for attention deficit hyperactivity disorder, 63 for autistic disorder (autism), 65 speech therapy and cerebral palsy, 388 speech training, sphincter disturbance, 423 spina bifida, 420–429, 485f–486f examination, 422, 482–484, 486t genetic issues, 429 history, 421–422 management, 422–429 prognosis, 429 social issues of, 428 see also spina bifida disabilities spina bifida disabilities Arnold–Chiari malformation (ACM), 425–426 bladder function, 423–424 bowel function, 424 hydrocephalus, 424–425 638 Index spina bifida disabilities (Continued) kyphosis, 427 latex allergy, 429 paralysis, 422–423 renal function, 423–424 renal osteodystrophy, 424 scoliosis, 425 seizures, 428 size, 428 skin, 427–428 sleep disordered breathing (SDB), 427 sphincter disturbance, 423 syringomyelia, 426 tethered cord, 426–427 urinary tract infection, 423–424 vision, 428 hearing, 428 spinal examination for hemiplegia, 471 neonatal, 336 spirometry, 505 spleen in systemic lupus erythematosus, 597 splenectomy, 317 splenic sequestration crisis, 300 splenomegaly, 228 splints for cerebral palsy, 383–384 squint, 434 and spina bifida, 428 Steinberg thumb sign, 75f Stenotrophomonas maltophilia in cystic fibrosis, 530 steroids see corticosteroids steroid-resistant nephrotic syndrome, 364 strabismus see squint stridor, 556–558 subacute bacterial endocarditis (SBE), 70–71, 92, 322 sulphasalazine (SSZ) in juvenile idiopathic arthritis, 571 summarising, 4, 13 supraventricular tachycardia (SVT), 80–82 sweat test for cystic fibrosis, 528 synovectomy, 293–294, 575 syringomyelia, 426 systemic arthritis, 563 systemic lupus erythematosus (SLE), 587–598 agents, 593–594 background information, 587 cardiovascular manifestations, 595–596 diagnosis, 590 examination, 588–590 history, 587–588 hypertension, 595 investigations, 590–592 joints, 596 management, 588, 592 neuropsychiatric, 596 prognosis, 598 systemic lupus erythematosus (Continued) pulmonary infections, 596 renal involvement, 594–598 skin management, 596–597 social history, 588 symptoms, 587–588 understanding of disease, 588 tacrolimus, 353–354 tall stature, 156f examination, 150–151, 152t–155t investigations, 151 manoeuvres to assess, 151, 152t measurements, 150–151 observation, 150 Tanner staging, 111, 114, 223 telemedicine, 90–91 temper tantrums and autism, 59 temporal lobe epilepsy, 408 testicular failure, 134 tethered cord, 426–427 Tetralogy of Fallot, 105f thalassaemia, assessment, 329–331, 330f see also beta-thalassaemia major thalidomide, 574 thelarche, 163 theophylline, 510 therapeutic modifications, 497 thoracolumbar spine examination, 602 three-dimensional echocardiography (3DE), 67 thrombosis and nephrotic syndrome, 360 thyroid disorders, 182–186, 185f in Down syndrome and, 263 examination for, 183–184, 186t–189t in hyperparathyroidism, 346–347 in hyperthyroidism, 184–186 in hypothyroidism, 185–186 in infants, 186–189 in Turner’s syndrome and, 276 investigations, 184–186 tiagabine (TAB), 418 tics, 45–46, 47, 476 tissue Doppler imaging (TDI), 67 tobacco smoke, 520 tocilizumab, 573 tone lower limb, 445 upper limb, 441 topiramate (TPA), 417 Tourette syndrome, 47, 58, 476 tracheostomy in obstructive sleep apnoea, 552 travel and cardiac disease, 72–73 tremor, 58–59, 62, 472, 475–476 in asthma, 505, 511 in hyperthyroidism, 151 in hypoglycaemic episode, 122 neonatal examination, 333–334 tricuspid atresia, 104f tricyclic antidepressants (TCAs), 47–48 Index 639 truncus, 78f tumours see oncology Turner’s syndrome, 265–277 definitions, 266 diagnosis, 266 examination, 268–269, 270t–273t history, 266–268 management issues, 269–277 manoeuvres for, 268–269 measurements for, 268 short stature, 149 type diabetes mellitus, 116 see also diabetes mellitus management tyrosinaemia type 1, 202–203 ulceration, leg, 303 ulcerative colitis (UC), 190, 198–200 ultrasound in inflammatory bowel disease, 197–200 in juvenile idiopathic arthritis, 569 umbilical cord blood transplantation (UCBT), 496–497 undifferentiated arthritis, 565 upper limb examination, 439–443, 600–601 for attention deficit hyperactivity disorder, 62 for hemiplegia, 470 neonatal, 334–335 for systemic lupus erythematosus, 589 urinalysis in diabetes mellitus, 126 in hemiplegia, 471 in nephrotic syndrome, 361 in systemic lupus erythematosus, 592 urinary problems in Duchenne’s muscular dystrophy, 402 in spina bifida, 423–424 in Turner’s syndrome, 275 uveitis, 575 variceal haemorrhage, 206–207 vascular malformations, 337 vaso-occlusive crises (VOC), 300, 302 venlafaxine, 48 ventilation, 507 ventricular septal defect, 101f vigabatrin (VBT), 417–418 vigilance testing for attention deficit ­hyperactivity disorder, 43 virilisation, 179t–181t female, 134 investigation, 182 in post-neonatal period, 177–182 visual acuity, 436 visual development, 436–438 visualisation, 21–23 vitamin D supplementation, 347 vitamin deficiency, 236, 539 Walker–Murdoch wrist sign, 76f Watanabe–Vigevano syndrome, 404 Watson syndrome, 77 weight loss in cystic fibrosis, 542 in older child/adolescent, 246–247, 247t–252t Werdnig–Hoffmann disease, 246, 432, 464–467 West syndrome, 405 Williams syndrome, 79–80, 81f Wilson’s disease, 201–202 Wolff–Parkinson–White (WPW) syndrome, 69, 81 Wolfram syndrome, 135 wrist examination, 600–601 X-rays in cardiac disease, 94 chest (CXR), 94, 505, 558–559 in chronic kidney disease management, 347 Zellweger syndrome, 222, 472 uploaded by [stormrg] This page intentionally left blank           [...]... candidates in passing clinical examinations in paediatrics, particularly at the postgraduate level The first edition was found helpful in many countries with many different clinical examination scenarios, although it was specifically designed to tackle the clinical section of the FRACP Part 1 Examination in Paediatrics and the MRCP (now the MRCPCH) Part 2 examination Written examinations, which must be... the FRACP examination comprises six written examinations, and six clinical examinations (including two ‘extra time’ cases), and for the MRCP, one clinical examination This broad coverage of most conceivable contingencies ensures that many of the approaches have been tested (successfully) in the actual examination settings by the authors, while others have been tested by our peers in their examinations... College of Physicians (Part 1) Examination in Paediatrics It is also intended to assist candidates preparing for the Membership of the Royal College of Physicians (Part 2) Examination in Paediatrics It was inspired by Talley and O’Connor’s book Examination Medicine, written to assist in the preparation for the Royal Australasian College of Physicians’ Internal Medicine (Part I) Examination We have tried... written in 1992 to assist candidates preparing for the Fellowship of the Royal Australasian College of Physicians (Part 1) Examination in Paediatrics, or for the Membership of the Royal College of Physicians (Part 2) Examination in Paediatrics, inspired by Talley and O’Connor’s book Examination Medicine The second edition came out in 2002, and the third in 2006 Much to my amazement, it has continued to... The best preparation for any written examination involves doing as many past examination questions as possible, and extensive reading of major texts and journals The most useful textbooks and journals are listed under Suggested Reading at the end of the book There are no set curricula specified for most paediatric examinations The college regularly releases previous examination papers These are essential... discusses the psychological aspects of the preparation for, and performance in, the examination This is a very important area that should not be overlooked Chapter 1 Approach to the examination Positive mindset All paediatric clinical examinations test the following aspects: 1 Clinical skills—history taking, physical examination, interpretation of findings, construction of a diagnosis or differential... questions assessing investigational material, clinical paediatrics and therapeutics, and lasts three hours It is held annually In the UK, the MRCPCH Part I examination lasts two and a half hours, and comprises 60 multiple-choice questions (MCQs), 15 of which are common to the MRCPCH and the MRCP(UK) The written component of the MRCPCH Part II examination comprises three short-answer papers: the first... structured and comprehensive approach to the clinical examination of the paediatric patient in a way that is particularly relevant for the postgraduate degrees of the FRACP (Part 1) and the MRCP (Part 2) Approaches are presented for most of the common -examination long and short cases This book is not designed to be the ‘Einstein Encyclopaedia of Paediatrics As a supplement to the major texts and journal... racp.edu.au/paed/index.htm • Membership of the Royal College of Paediatrics and Child Health (MRCPCH): http://www.rcpch.ac.uk/rcpch/index.htm • Fellowship of the Royal College of Physicians of Canada (FRCPC): http://rcpsc medical.org/english/index (click on ‘Residency Education’ for this one) The written examination In Australia, the written component of the FRACP examination comprises two papers taken on the same... high-resolution CT health-related quality of life hippocampal sclerosis haematopoietic stem cell transplantation herpes simplex encephalitis Henoch–Schönlein purpura hepatosplenic T-cell lymphoma xxiv Examination paediatrics HSV HUS HVZ Hx Hz IA-2 IAA IBD IBW IC ICA ICD ICD-10 ICE-GTC ICH ICP ICS ICSI ICU ID IDDM IEM IGF IGFBP Ig IHH IHH IIMs ILAE ILAR IM IMP INCS INR INS IPTAS IQ IRT ITT IU IUGR IV IVH IVIG .. .Examination Paediatrics 4th edition This page intentionally left blank           Examination Paediatrics 4th edition Wayne Harris MBBS, MRCP (UK), FRACP Senior Staff Specialist in Paediatrics, ... Physicians (Part 1) Examination in Paediatrics, or for the Membership of the Royal College of Physicians (Part 2) Examination in Paediatrics, inspired by Talley and O’Connor’s book Examination Medicine... of the FRACP Part Examination in Paediatrics and the MRCP (now the MRCPCH) Part examination Written examinations, which must be passed in most countries before any clinical examination can be