Additional Information
Book Details
Abstract
Examination Paediatrics is an essential guide for medical trainees undertaking paediatric clinical examinations.
Aligned with current practice and examination format, this new edition provides guidance on history taking, examination procedure, relevant investigations, and management for the majority of chronic paediatric clinical problems encountered in paediatric hospital practice and community paediatric practice.
- Extended cardiology focus with over 50 colour images
- Catchy mnemonics to aid recall
- 5 new long cases, including hypopituitarism, neurofibromatosis type 1 and Rett syndrome
- 8 new short cases, including lymphadenopathy, ataxia and nystagmus
- Tips on body language, attitude and the motivation needed to pass your clinical exams
Table of Contents
| Section Title | Page | Action | Price |
|---|---|---|---|
| Front Cover | cover | ||
| Inside Front Cover | ifc1 | ||
| Examination Paediatrics | i | ||
| Copyright Page | iv | ||
| Dedication | v | ||
| Table Of Contents | vii | ||
| Foreword to the fifth edition | xi | ||
| Preface | xii | ||
| Preface to the first edition | xiii | ||
| Acknowledgements/ Special thanks … | xiv | ||
| Reviewers | xiv | ||
| Abbreviations | xvi | ||
| Introduction | xxxiv | ||
| Basic training requirements | xxxiv | ||
| The written examination | xxxiv | ||
| The clinical examination | xxxv | ||
| The mini-clinical evaluation exercise (mini-CEX) | xxxv | ||
| Achievement psychology: the psychology of passing | xxxv | ||
| 1 Approach to the Examination | 1 | ||
| Positive mindset | 1 | ||
| Body language | 2 | ||
| Eye contact | 3 | ||
| Breath control | 3 | ||
| Dress and grooming | 3 | ||
| Speech training | 4 | ||
| Equanimity | 4 | ||
| Ability to summarise | 4 | ||
| Reasoning skills | 5 | ||
| Assessment of examiner | 5 | ||
| The clinical examination | 5 | ||
| Preparation | 5 | ||
| Equipment | 6 | ||
| 2 The Long Case | 8 | ||
| Obtaining the history | 8 | ||
| Physical examination | 9 | ||
| Preparation to meet the examiners | 9 | ||
| A long-case proforma | 10 | ||
| Opening statement | 10 | ||
| Details and history | 10 | ||
| Remaining history | 11 | ||
| Examination | 14 | ||
| 3 The Short Case | 16 | ||
| 4 Achievement Psychology | 19 | ||
| Positive mindset | 19 | ||
| Self-motivation | 19 | ||
| Commitment | 20 | ||
| Why do you do the things you do? | 20 | ||
| Goal-setting | 21 | ||
| Affirmation | 22 | ||
| Self-talk | 23 | ||
| Visualisation | 24 | ||
| Mental toughness | 25 | ||
| Failure | 26 | ||
| Further reading | 27 | ||
| 5 Behavioural and Developmental Paediatrics | 28 | ||
| Long Cases | 28 | ||
| Long case: Anorexia nervosa (AN) | 28 | ||
| Background information | 29 | ||
| History | 30 | ||
| Presenting complaint | 30 | ||
| Current status | 30 | ||
| Behavioural symptoms: the A to F of AN | 30 | ||
| Physical symptoms of AN | 31 | ||
| Complications of AN | 32 | ||
| Current management of AN for inpatients | 32 | ||
| Comorbid psychiatric diagnoses | 32 | ||
| Past history of AN | 32 | ||
| Social history | 33 | ||
| Disease impact on patient | 33 | ||
| Disease impact on parents | 33 | ||
| Disease impact on siblings | 33 | ||
| Social supports | 33 | ||
| Coping | 33 | ||
| Access | 33 | ||
| Family history | 33 | ||
| Immunisation | 33 | ||
| Examination for anorexia nervosa | 33 | ||
| Investigations | 33 | ||
| Monitoring of disease | 35 | ||
| Routine clinic visits | 35 | ||
| Documentation of disease progression | 35 | ||
| Management | 35 | ||
| Hospitalisation | 36 | ||
| Indications for admission: paediatric and adolescent | 36 | ||
| Indication for hospital admission: adult psychiatric | 37 | ||
| Indications for hospital admission: adult medical | 37 | ||
| Monitoring parameters | 38 | ||
| Food and eating | 38 | ||
| Bone disease | 39 | ||
| Long-term effects on physical health | 39 | ||
| Prognosis | 39 | ||
| Long case: Attention deficit hyperactivity disorder (ADHD) | 40 | ||
| Introduction | 40 | ||
| Background information | 41 | ||
| Developments in ADHD management | 45 | ||
| The raine study | 45 | ||
| The question of medication-induced cardiac effects | 46 | ||
| History | 47 | ||
| Presenting complaint | 47 | ||
| Current symptoms | 47 | ||
| Past history | 48 | ||
| Birth history | 48 | ||
| Developmental history | 48 | ||
| Family history | 48 | ||
| Current management | 48 | ||
| Social history | 48 | ||
| Understanding of problems and prognosis | 48 | ||
| Examination | 48 | ||
| Teacher report | 48 | ||
| Rating scales | 49 | ||
| Diagnosis of ADHD | 49 | ||
| Educational audiology assessment | 49 | ||
| Educational psychology assessment | 49 | ||
| Diagnostic interviews | 49 | ||
| Vigilance testing | 49 | ||
| EEG | 50 | ||
| Ophthalmology evaluation | 50 | ||
| Miscellaneous investigations | 50 | ||
| Management | 50 | ||
| School strategies (educational management principles) | 51 | ||
| Medication | 52 | ||
| Stimulants | 52 | ||
| Short acting: dexamphetamine, methylphenidate (MPH) | 52 | ||
| Long acting (8–12 hours): extended-release MPH tablets, long-acting MPH capsules, lisdexamfetamine dimesilate | 53 | ||
| Non-stimulants | 54 | ||
| Atomoxetine | 54 | ||
| Clonidine (an alpha-2 noradrenergic agonist) | 54 | ||
| Other medications previously used: tricyclic antidepressants (TCAs; imipramine, desipramine), bupropion, venlafaxine | 54 | ||
| Melatonin | 55 | ||
| Alternative treatments | 55 | ||
| Prognosis | 56 | ||
| Long case: Autism spectrum disorder (ASD) | 57 | ||
| Background information | 58 | ||
| Aetiology | 59 | ||
| History | 61 | ||
| Presenting complaint | 61 | ||
| Current symptoms | 61 | ||
| Past history | 63 | ||
| Birth history | 63 | ||
| Developmental history | 63 | ||
| Family history | 63 | ||
| Immunisation | 63 | ||
| Current management | 63 | ||
| Social history | 64 | ||
| Understanding of problems and prognosis | 64 | ||
| Examination | 64 | ||
| Diagnosis of autism | 64 | ||
| Screening tests and diagnostic instruments | 65 | ||
| Routine developmental surveillance | 65 | ||
| Autism-specific screening tests—younger children | 65 | ||
| Autism-specific screening tests—older children and adolescents | 65 | ||
| Diagnostic structured parental interviews | 65 | ||
| Diagnostic observational instruments | 66 | ||
| Investigations | 66 | ||
| Blood tests | 66 | ||
| Urine test | 66 | ||
| Neurophysiological testing | 66 | ||
| Ophthalmological assessment | 66 | ||
| Other | 66 | ||
| Educational psychology assessment | 67 | ||
| Teacher’s report | 67 | ||
| Management | 67 | ||
| School-based special education | 67 | ||
| Pharmacotherapeutic intervention | 67 | ||
| 1. ADHD-like behaviours | 68 | ||
| 2. Ritualistic/compulsive behaviours | 68 | ||
| 3. Sleep disturbances | 68 | ||
| 4. Difficult behaviours (e.g. aggression, self-injury, temper tantrums) | 69 | ||
| Education of, and support for, parents | 69 | ||
| Community supports | 69 | ||
| Intervention | 69 | ||
| Alternative treatments | 70 | ||
| Useful websites | 70 | ||
| Long case: Rett syndrome | 71 | ||
| Background information | 71 | ||
| Diagnostic criteria | 72 | ||
| Stages (mnemonic: DRUM) | 72 | ||
| Variant forms of RTT | 73 | ||
| Congenital variant (Rolando variant) | 73 | ||
| Preserved speech variant (Zappella variant) | 74 | ||
| Differential diagnoses | 74 | ||
| Epilepsy | 74 | ||
| Motor disturbances | 75 | ||
| Extrapyramidal motor findings | 75 | ||
| Hand stereotypies | 75 | ||
| Gait ataxia and apraxia | 75 | ||
| Musculoskeletal system | 75 | ||
| Scoliosis | 75 | ||
| Bone density and fractures | 76 | ||
| Hypoplastic cold hands and feet | 76 | ||
| Sleep and nocturnal behaviours | 76 | ||
| Autonomic dysfunction | 76 | ||
| Gastrointestinal manifestations | 76 | ||
| Feeding issues (nutrition, feeding impairment) | 76 | ||
| Gastro-oesophageal reflux disease (GORD) | 76 | ||
| Constipation | 76 | ||
| Aerophagia and abdominal bloating | 77 | ||
| Growth (suboptimal weight gain) and nutritional assessment | 77 | ||
| Cardiac abnormalities | 77 | ||
| Breathing dysfunction | 77 | ||
| Screaming episodes | 77 | ||
| Decreased sensitivity to pain | 78 | ||
| History | 78 | ||
| Presenting complaint | 78 | ||
| Evolution of symptoms (stages)/current symptoms/function (DRUMBEATS) | 78 | ||
| Birth history | 78 | ||
| Developmental history | 78 | ||
| Family history | 79 | ||
| Management | 79 | ||
| Social history | 79 | ||
| Understanding of problems and prognosis | 79 | ||
| Examination | 79 | ||
| Important signs in examination of the child with RTT | 79 | ||
| Management | 80 | ||
| Medications | 80 | ||
| Seizures | 80 | ||
| Dystonic spasms and rigidity | 80 | ||
| Drooling | 80 | ||
| Respiratory dysfunction | 80 | ||
| Sleep disorders | 80 | ||
| Cardiac dysfunction | 81 | ||
| Agitation | 81 | ||
| Gastrointestinal aspects | 81 | ||
| Musculoskeletal aspects | 81 | ||
| Reproductive aspects | 81 | ||
| Newer medications | 81 | ||
| Surgery | 81 | ||
| Surgical interventions for gastrointestinal/feeding problems | 81 | ||
| Surgical interventions for scoliosis | 82 | ||
| Therapies | 82 | ||
| Eye gaze and eye tracking technology | 82 | ||
| Prognosis | 82 | ||
| Useful websites | 82 | ||
| Short Cases | 82 | ||
| Short case: Suspected ADHD | 82 | ||
| Examination | 84 | ||
| Growth parameters | 84 | ||
| Upper limbs | 84 | ||
| Dysmorphology examination | 84 | ||
| Head | 84 | ||
| Eyes | 84 | ||
| Ears | 85 | ||
| Speech | 85 | ||
| Mouth | 85 | ||
| Neck | 85 | ||
| Skin | 85 | ||
| Neurological examination | 85 | ||
| Developmental assessment | 85 | ||
| Side effects of treatment | 86 | ||
| Short case: Suspected ASD | 86 | ||
| Examination | 87 | ||
| 1. Introduce self to parent and patient | 87 | ||
| 2. Quality of movement and posture | 87 | ||
| 3. Growth parameters | 87 | ||
| 4. Dysmorphology examination | 87 | ||
| 5. Eyes | 87 | ||
| 6. Ears | 87 | ||
| 7. Speech | 87 | ||
| 8. Skin | 87 | ||
| 9. Full neurological examination | 88 | ||
| 10. Developmental assessment | 88 | ||
| 11. Side effects of treatment | 88 | ||
| 12. Investigations | 88 | ||
| Short case: Rett syndrome (RTT) | 88 | ||
| Examination | 90 | ||
| 1. Introduce self to parent and patient (General observations) | 90 | ||
| 2. Quality of movement and posture (Gait) | 90 | ||
| 3. Growth parameters, nutritional assessment and Tanner staging (Growth) | 90 | ||
| 4. Dysmorphology examination (head and neck) (Grinding) | 90 | ||
| 5. Eyes (Gaze) | 90 | ||
| 6. Ears and hearing | 91 | ||
| 7. Speech (Gelastic) | 91 | ||
| 8. Cardiorespiratory system (Gasping, Gelastic) | 91 | ||
| 9. Full neurological examination (Gait, Gaze, Grasping) | 91 | ||
| 10. Developmental assessment (Gait, Gaze, Grasping) | 91 | ||
| 11. Abdominal examination (Gas; swallowed air) | 91 | ||
| 12. Side effects of treatment | 92 | ||
| 13. Investigations | 92 | ||
| Neuromuscular assessment | 92 | ||
| 6 Cardiology | 94 | ||
| Long Case | 94 | ||
| Long case: Cardiac disease | 94 | ||
| Background information | 94 | ||
| Important cardiac conditions | 94 | ||
| Cyanotic congenital heart defects (CCHDs) | 94 | ||
| Aortic disease: bicuspid aortic valve, aneurysmal aortic dilatation | 112 | ||
| History | 115 | ||
| Presenting complaint | 115 | ||
| Diagnosis | 115 | ||
| Initial treatment | 116 | ||
| Past history | 116 | ||
| Treatment | 116 | ||
| Current state of health | 116 | ||
| Other associated problems | 117 | ||
| Social history | 117 | ||
| Family history | 117 | ||
| Immunisations | 117 | ||
| Examination | 117 | ||
| Management issues | 117 | ||
| 1. General development, growth and nutrition | 117 | ||
| 2. Prophylaxis against subacute bacterial endocarditis (SBE) risk | 118 | ||
| Dental procedures and dental care | 118 | ||
| Genitourinary and gastroenterological surgery | 119 | ||
| Non-cardiac surgery | 119 | ||
| 3. Infection | 119 | ||
| Common infections | 119 | ||
| Cerebral abscess | 119 | ||
| Immunisation | 119 | ||
| 4. Social issues | 120 | ||
| Impact of disease | 120 | ||
| Schooling | 120 | ||
| Recommendations regarding sports participation and exercise | 120 | ||
| Adolescence | 121 | ||
| Pregnancy | 121 | ||
| Genetic counselling | 121 | ||
| Travel | 121 | ||
| 5. Specific problems | 122 | ||
| Drugs | 122 | ||
| Contraception | 122 | ||
| Specific syndromes: cardiac involvement | 122 | ||
| Marfan syndrome (MFS) | 122 | ||
| Management of MFS | 125 | ||
| Noonan syndrome (NS) | 126 | ||
| Non-RASopathies | 131 | ||
| Management of NS | 131 | ||
| 22q11.2 deletion syndrome (22q11.2DS): conotruncal defects | 132 | ||
| Williams syndrome (WS) | 135 | ||
| Management of WS | 136 | ||
| Supraventricular tachycardia (SVT) | 137 | ||
| Long QT syndrome (LQTS) | 139 | ||
| Brugada syndrome | 141 | ||
| Myocardial disease | 142 | ||
| Dilated cardiomyopathy (DCM)—familial dilated cardiomyopathy (FDC) and idiopathic dilated cardiomyopathy (IDC) | 142 | ||
| Familial hypertrophic cardiomyopathy (FHCM): also called hypertrophic obstructive cardiomyopathy (HOCM) and idiopathic hypertrophic subaortic stenosis (IHSS) | 143 | ||
| Congestive cardiac failure (CCF) | 144 | ||
| Cardiac transplantation | 145 | ||
| Telemedicine | 147 | ||
| Cardiac imaging | 148 | ||
| Short Case | 148 | ||
| Short case: The cardiovascular system | 148 | ||
| Chest X-ray (CXR) and electrocardiography (ECG) | 157 | ||
| CXR | 157 | ||
| ECG | 159 | ||
| Definitions of ventricular hypertrophy | 165 | ||
| Right-ventricular hypertrophy | 165 | ||
| Left-ventricular hypertrophy | 165 | ||
| Causes of atrial hypertrophy | 165 | ||
| QRS and Q wave abnormalities | 165 | ||
| Specific diagnosis by ECG | 166 | ||
| Reference | 166 | ||
| 7 Endocrinology | 167 | ||
| Long Cases | 167 | ||
| Long case: Congenital adrenal hyperplasia (CAH) | 167 | ||
| Background information | 167 | ||
| Diagnosis | 168 | ||
| High-risk pregnancies: prenatal diagnosis of 21-OHD CAH | 168 | ||
| Low-risk pregnancies: prenatal diagnosis of 21-OHD CAH | 169 | ||
| Preimplantation genetic diagnosis (PGD) of 21-OHD CAH | 169 | ||
| Neonatal diagnosis of 21-OHD CAH | 169 | ||
| Neonatal presentation of 21-OHD CAH at 1–4 weeks | 169 | ||
| Non-classic forms of 21-OHD CAH | 170 | ||
| CAH due to 11-beta-hydroxylase deficiency | 170 | ||
| Other forms of CAH | 170 | ||
| Mechanism of virilisation | 170 | ||
| Gold standard of diagnosis | 170 | ||
| History | 171 | ||
| Presenting complaint | 171 | ||
| Initial diagnosis | 171 | ||
| Progress of the disease | 171 | ||
| Current status | 172 | ||
| Social history | 172 | ||
| Family history | 172 | ||
| Immunisation | 172 | ||
| Examination | 172 | ||
| Management | 172 | ||
| Control of steroid requirements | 173 | ||
| Glucocorticoids | 173 | ||
| Mineralocorticoids | 173 | ||
| Non-salt-losing CAH | 173 | ||
| Other potential approaches to treatment | 173 | ||
| Prevention of acute complications | 174 | ||
| Optimum growth and development | 174 | ||
| Psychological support | 174 | ||
| Social supports | 175 | ||
| Routine follow-up | 175 | ||
| Types of corticosteroids | 175 | ||
| 21-OHD CAH prenatal diagnosis and intervention | 175 | ||
| Management of acute adrenocortical insufficiency (adrenal crisis) | 176 | ||
| Immediate management | 177 | ||
| Long case: Type 1 diabetes mellitus (T1DM) | 177 | ||
| Background information | 178 | ||
| Prevention of complications of T1DM | 180 | ||
| Diagnosis | 180 | ||
| History | 181 | ||
| Presenting complaint | 181 | ||
| Initial diagnosis | 181 | ||
| Progress of the disease | 181 | ||
| Current status | 182 | ||
| Social history | 182 | ||
| Family history | 182 | ||
| Immunisation | 182 | ||
| Associated diseases | 182 | ||
| Examination | 183 | ||
| Management | 183 | ||
| Age-specific aspects of control | 183 | ||
| Insulin therapy | 183 | ||
| Types of insulin/insulin analogue | 184 | ||
| Rapid-acting (or ultra-short-acting) insulin analogues (insulin lispro, insulin aspart, insulin glulisine) | 184 | ||
| Short-acting (clear) insulins (neutral/regular/soluble insulin) | 184 | ||
| Intermediate-acting insulins (isophane insulin) | 185 | ||
| Long-acting insulins (basal insulins) | 185 | ||
| Biphasic insulins | 185 | ||
| Modifying insulin dosages; self-titration bolus insulin | 185 | ||
| The glycaemic index (GI) | 185 | ||
| Other points about insulin | 186 | ||
| Specific problem areas | 186 | ||
| Intercurrent illness | 186 | ||
| Hypoglycaemic episodes | 186 | ||
| Alternative modes of insulin delivery | 187 | ||
| Insulin pumps | 187 | ||
| Diet | 188 | ||
| Exercise | 189 | ||
| Monitoring and control | 189 | ||
| Home BSL monitoring | 189 | ||
| Glycosylated haemoglobin (HbA1c) | 189 | ||
| Glycosylated albumin (fructosamine) | 190 | ||
| Ketones | 190 | ||
| Routine follow-up | 190 | ||
| Each outpatient visit | 191 | ||
| Complications | 191 | ||
| Microvascular complications | 191 | ||
| Retinopathy | 191 | ||
| Nephropathy | 192 | ||
| Neuropathy | 192 | ||
| Macrovascular complications | 193 | ||
| Coronary atherosclerosis | 193 | ||
| Peripheral vascular disease | 193 | ||
| Other complications | 193 | ||
| Limited joint mobility (LJM) | 193 | ||
| Requirement for psychological support | 193 | ||
| Eating disorders | 195 | ||
| Comorbid disorders | 195 | ||
| Social supports | 195 | ||
| Transition from paediatric to adult care | 195 | ||
| Pre-diabetes screening and intervention | 196 | ||
| Screening | 196 | ||
| Prevention | 196 | ||
| Acute management of diabetic ketoacidosis (DKA) | 196 | ||
| Some complications | 196 | ||
| Cerebral oedema (CO) | 196 | ||
| Hypoglycaemia (BSL < 3.9 mmol/L) | 197 | ||
| Hypokalaemia (serum K+ < 3.5 mmol/L; moderate hypokalaemia < 3.0; severe < 2.5) | 197 | ||
| Long case: Hypopituitarism | 197 | ||
| Craniopharyngioma | 198 | ||
| CHARGE syndrome | 199 | ||
| Combined pituitary hormone deficiency (CPHD) | 200 | ||
| Isolated pituitary hormone deficiencies | 200 | ||
| Radiotherapy | 201 | ||
| Acquired (traumatic) brain injury | 201 | ||
| Holoprosencephaly (HPE) | 202 | ||
| History | 203 | ||
| Presenting complaint | 203 | ||
| Current symptoms | 203 | ||
| Birth history | 203 | ||
| Past history | 204 | ||
| Current management | 204 | ||
| Social history | 204 | ||
| Family history | 204 | ||
| Understanding of disease | 205 | ||
| Examination | 205 | ||
| Management | 205 | ||
| Glucocorticoid hormone replacement therapy | 205 | ||
| Thyroid hormone replacement therapy | 207 | ||
| Growth hormone (GH) replacement therapy | 207 | ||
| Antidiuretic hormone (ADH) replacement therapy | 207 | ||
| Gonadotropin hormone replacement therapy | 208 | ||
| Induction of puberty in girls | 208 | ||
| Induction of puberty in boys | 208 | ||
| Short Cases | 209 | ||
| Short case: Disorders of sexual development (DSD) (ambiguous genitalia) | 209 | ||
| Examination for ambiguous genitalia | 210 | ||
| Differential diagnosis | 211 | ||
| Virilised female | 211 | ||
| Testicular failure (undervirilised males) | 211 | ||
| Important points | 212 | ||
| Investigations | 212 | ||
| Blood tests | 212 | ||
| Provocation tests | 212 | ||
| Imaging | 212 | ||
| Specialised tests | 212 | ||
| Short case: Type 1 diabetes mellitus (T1DM) | 212 | ||
| Examination | 212 | ||
| Short case: Short stature | 215 | ||
| Observation | 215 | ||
| Measurements | 215 | ||
| Interpretation of the US:LS ratio and arm span | 215 | ||
| Manoeuvres | 216 | ||
| Inspect from front | 216 | ||
| Inspect from the side | 216 | ||
| Inspect from the back | 217 | ||
| Examination | 217 | ||
| Investigations | 217 | ||
| Aetiologies | 217 | ||
| Alternative introduction to short stature—endocrine | 218 | ||
| Short case: Tall stature | 226 | ||
| Observation | 226 | ||
| Measurements | 226 | ||
| Manoeuvres | 227 | ||
| Investigations | 228 | ||
| Short case: Obesity | 233 | ||
| Observation | 233 | ||
| Examination | 236 | ||
| Short case: Normal puberty | 239 | ||
| Staging | 239 | ||
| Breast development | 239 | ||
| Pubic hair stages (for females and males) | 239 | ||
| Genital development in boys | 240 | ||
| Short case: Precocious puberty | 240 | ||
| Examination | 240 | ||
| Investigations | 241 | ||
| Blood tests | 241 | ||
| Imaging | 241 | ||
| Additional information | 241 | ||
| Short case: Delayed puberty | 245 | ||
| Examination | 246 | ||
| Investigations | 247 | ||
| Blood tests | 247 | ||
| Imaging | 252 | ||
| Short case: Disorders of sexual development (DSD) (virilisation in post-neonatal period) | 252 | ||
| Investigations | 257 | ||
| Provocation tests and other blood tests | 257 | ||
| Imaging | 257 | ||
| Short case: Thyroid disorders | 257 | ||
| Examination | 258 | ||
| Investigations | 260 | ||
| Hyperthyroidism | 260 | ||
| 8 Gastroenterology | 269 | ||
| Long Cases | 269 | ||
| Long case: Inflammatory bowel disease (IBD) | 269 | ||
| History | 270 | ||
| Presenting complaint | 270 | ||
| Gastrointestinal symptoms | 270 | ||
| Extraintestinal symptoms | 270 | ||
| Past history | 270 | ||
| Other relevant medical history | 270 | ||
| Treatment | 271 | ||
| Social history | 271 | ||
| 1. Impact on child | 271 | ||
| 2. Impact on family | 271 | ||
| 3. Social supports | 271 | ||
| Family history | 271 | ||
| Examination | 271 | ||
| Investigations | 271 | ||
| Stool | 273 | ||
| Blood | 273 | ||
| Imaging | 274 | ||
| Endoscopy | 275 | ||
| Other | 275 | ||
| Management | 276 | ||
| Crohn’s disease (CD) | 276 | ||
| Induction therapy for CD: exclusive enteral nutrition (EEN), steroids, biologics | 276 | ||
| CD maintenance: immunomodulators AZA, 6MP, MTX; biologics IFX, ADA | 278 | ||
| Ulcerative colitis (UC) | 279 | ||
| Mild disease/distal colitis | 279 | ||
| Moderate extensive disease | 280 | ||
| Severe disease/fulminant distal and extensive colitis/refractory disease | 280 | ||
| Colectomy | 281 | ||
| Growth and pubertal delay | 281 | ||
| Metabolic bone disease | 281 | ||
| Malignant potential | 282 | ||
| Long case: Chronic liver disease (CLD) | 282 | ||
| Cholestatic diseases | 282 | ||
| Extrahepatic biliary atresia (EHBA) | 282 | ||
| Alagille syndrome (ALGS) | 283 | ||
| Progressive familial intrahepatic cholestasis (PFIC) disorders | 283 | ||
| Metabolic disease | 284 | ||
| Chronic hepatitis | 286 | ||
| History for CLD | 287 | ||
| Presenting complaint | 287 | ||
| Past history (including initial presentation) | 287 | ||
| Gastrointestinal symptoms (interval and current) | 287 | ||
| Other symptoms | 287 | ||
| Treatment | 287 | ||
| Social history | 287 | ||
| Family history | 287 | ||
| Examination for CLD | 287 | ||
| Investigations | 287 | ||
| Principles of management of CLD | 288 | ||
| General | 288 | ||
| Nutrition | 288 | ||
| Salt and water retention/ascites | 289 | ||
| Hepatic encephalopathy (HE) | 289 | ||
| Portal hypertension, varices and variceal haemorrhage | 289 | ||
| Coagulopathy | 290 | ||
| Pruritus | 290 | ||
| Drugs | 290 | ||
| Sepsis | 290 | ||
| Other non-transplantation treatment options | 290 | ||
| Liver transplantation (LTx) | 291 | ||
| Timing of transplantation | 291 | ||
| Indications for LTx | 291 | ||
| Transplant surgery procedure | 292 | ||
| Complications of LTx | 292 | ||
| Graft rejection (60%) | 293 | ||
| Infection (50%) | 293 | ||
| Biliary complications (20%) | 293 | ||
| Hepatic vascular compromise (<10%) | 293 | ||
| Posttransplant lymphoproliferative disorder (PTLD) (EBV-driven B-cell proliferation; 5–25%) | 294 | ||
| De novo autoimmune hepatitis (uncommon) | 294 | ||
| Recurrence of primary disease (uncommon) | 294 | ||
| Chronic hepatitis (uncommon) | 294 | ||
| Primary non-function (PNF) (rare) | 294 | ||
| Retransplantation (Re-LTx) (10–20%) | 294 | ||
| Long-term toxicities of calcineurin inhibitors (CNIs): CSA and tacrolimus | 294 | ||
| Bowel perforation | 295 | ||
| Improved outcomes | 295 | ||
| Long case: Malabsorption/maldigestion | 295 | ||
| Aetiology | 296 | ||
| Mechanisms of malabsorption | 296 | ||
| Digestive factors | 297 | ||
| Absorptive factors | 297 | ||
| Coeliac disease/gluten-sensitive enteropathy (GSE) | 297 | ||
| History | 298 | ||
| Weight | 298 | ||
| Chronology of symptoms | 298 | ||
| Feeding | 299 | ||
| Stools | 299 | ||
| Symptoms of specific nutritional deficiencies | 299 | ||
| Specific diagnostic clues | 299 | ||
| Family history | 299 | ||
| Social history | 299 | ||
| Past medical history | 299 | ||
| Investigations thus far | 299 | ||
| Management | 299 | ||
| Examination | 299 | ||
| Investigations | 300 | ||
| Stool | 300 | ||
| Blood | 300 | ||
| Imaging | 301 | ||
| Small bowel biopsy | 301 | ||
| Sweat test | 301 | ||
| Others | 301 | ||
| Short Cases | 301 | ||
| Short case: Gastrointestinal system | 301 | ||
| Neurological assessment | 305 | ||
| Respiratory assessment | 306 | ||
| Cardiac assessment | 306 | ||
| Short case: The abdomen | 306 | ||
| Hepatomegaly | 307 | ||
| Causes of hepatomegaly | 310 | ||
| Causes of hepatomegaly (practical classification) | 311 | ||
| Infants | 311 | ||
| 9 Genetics and Dysmorphology | 336 | ||
| Long Cases | 336 | ||
| Long case: Down syndrome | 336 | ||
| Background information | 337 | ||
| Definitions | 337 | ||
| History | 337 | ||
| Presenting complaint | 337 | ||
| Diagnosis | 337 | ||
| Initial treatment | 337 | ||
| Past history | 337 | ||
| Past treatment | 338 | ||
| Current state of health | 338 | ||
| Current state of behaviour | 339 | ||
| Social history | 339 | ||
| Family history | 340 | ||
| Immunisations | 340 | ||
| Examination | 340 | ||
| Management issues | 344 | ||
| Cardiac disease | 344 | ||
| Hearing loss | 344 | ||
| Ophthalmological disorders | 344 | ||
| Developmental issues | 345 | ||
| Behavioural and psychiatric issues | 345 | ||
| Obesity | 345 | ||
| Dental problems | 346 | ||
| Thyroid disease | 346 | ||
| Coeliac disease | 346 | ||
| Obstructive sleep apnoea | 346 | ||
| Haematological disorders (including leukaemia) | 346 | ||
| Immunological manifestations | 347 | ||
| Seizures | 347 | ||
| Atlantoaxial instability (AAI) | 347 | ||
| Orthopaedic problems | 348 | ||
| Diabetes mellitus | 348 | ||
| Constipation | 348 | ||
| Unproven therapies | 348 | ||
| Long case: Turner syndrome | 349 | ||
| Definitions | 349 | ||
| History | 350 | ||
| Presenting complaint | 350 | ||
| Diagnosis | 350 | ||
| Initial treatment | 350 | ||
| Past history | 350 | ||
| Past treatment | 350 | ||
| Current state of health | 351 | ||
| Social history | 351 | ||
| Family history | 352 | ||
| Immunisations | 352 | ||
| Examination | 352 | ||
| Measurements | 352 | ||
| Manoeuvres | 352 | ||
| 1. Inspect from in front | 352 | ||
| 2. Inspect from the side | 353 | ||
| 3. Inspect from the back | 353 | ||
| Completing the examination | 353 | ||
| Specific complications and associations | 356 | ||
| Management issues | 356 | ||
| Cardiovascular disease | 356 | ||
| Lymphatic abnormalities | 358 | ||
| Growth | 358 | ||
| Induction of puberty | 358 | ||
| Renal and urinary tract anomalies | 359 | ||
| Hearing loss | 359 | ||
| Ophthalmological disorders | 359 | ||
| Obesity | 359 | ||
| Thyroid disease and autoimmunity | 359 | ||
| Craniofacial/dental problems | 360 | ||
| Gastrointestinal disease: coeliac disease, IBD and hepatic effects | 360 | ||
| Osteoporosis | 360 | ||
| Psychosocial aspects | 360 | ||
| Education | 360 | ||
| Short Cases | 361 | ||
| Short case: The dysmorphic child | 361 | ||
| Definitions | 361 | ||
| Examination | 361 | ||
| Further measurements | 362 | ||
| Manoeuvres | 363 | ||
| Inspect from in front | 363 | ||
| Inspect from the side | 364 | ||
| Inspect from the back | 364 | ||
| Skin | 364 | ||
| Completing the examination | 364 | ||
| Short case: Body asymmetry and hemihyperplasia | 370 | ||
| Examination procedure | 373 | ||
| 10 Haematology | 376 | ||
| Long Cases | 376 | ||
| Long case: Haemophilia | 376 | ||
| Background information | 377 | ||
| Definitions | 377 | ||
| Disease manifestations | 378 | ||
| Age-related presentation | 378 | ||
| Birth to 4 weeks | 378 | ||
| 4–6 months | 378 | ||
| 6–24 months | 378 | ||
| 3–4 years | 378 | ||
| Complications | 378 | ||
| Haemarthrosis | 378 | ||
| Neurological problems | 379 | ||
| Intracranial haemorrhage | 379 | ||
| Haemorrhage into vertebral canal | 379 | ||
| Peripheral nerve compression | 379 | ||
| Life-threatening haemorrhages | 379 | ||
| Retropharyngeal | 379 | ||
| Retroperitoneal | 379 | ||
| Intracranial | 379 | ||
| History | 379 | ||
| Presenting complaint | 379 | ||
| Past history | 379 | ||
| Current status | 380 | ||
| Social history | 380 | ||
| Family history and genetic aspects | 380 | ||
| Immunisation | 380 | ||
| Examination | 380 | ||
| General inspection | 380 | ||
| Directed examination for disease extent and complications | 381 | ||
| Available treatment modalities | 381 | ||
| Factor concentrates: standard half-life (SHL) | 381 | ||
| Factor concentrates: extended half-life (EHL) | 381 | ||
| EHL FVIII preparations | 381 | ||
| EHL FIX preparations | 381 | ||
| Pharmacokinetic (PK) profiles: personalised therapy | 382 | ||
| Antifibrinolytics | 382 | ||
| Desmopressin (1-deamino 8-D arginine vasopressin: DDAVP) | 383 | ||
| Corticosteroids | 383 | ||
| Fresh frozen plasma (FFP) | 383 | ||
| Management | 383 | ||
| Treatment of acute haemorrhage | 383 | ||
| 1. Control of specific bleeding problems | 383 | ||
| Clotting factors | 383 | ||
| FVIII replacement guide | 383 | ||
| FIX replacement guide | 384 | ||
| 2. Other treatments | 384 | ||
| Analgesia | 384 | ||
| Restoring normal function | 384 | ||
| Prevention of iatrogenic problems | 384 | ||
| Complications of medical treatment | 385 | ||
| Analgesic abuse | 385 | ||
| Chronic problems | 385 | ||
| Neurological sequelae | 385 | ||
| Joint involvement and synovectomy | 385 | ||
| Specific discussion areas | 386 | ||
| Home treatment | 386 | ||
| Prophylaxis | 386 | ||
| Primary prophylaxis | 386 | ||
| Secondary prophylaxis | 387 | ||
| Full-dose prophylaxis | 387 | ||
| Partial prophylaxis | 387 | ||
| Central venous access devices (CVADs or ‘ports’) | 387 | ||
| Elective surgery and continuous infusion of replacement factors | 387 | ||
| Inhibitors and immune tolerance induction (ITI) | 388 | ||
| Inhibitors: low- versus high-risk patients | 388 | ||
| Immune tolerance induction (ITI) | 388 | ||
| Risks associated with sporting activities | 389 | ||
| Immunisation | 389 | ||
| Dental care, including extractions | 390 | ||
| Genetic counselling | 390 | ||
| Preimplantation genetic diagnosis (PGD) | 390 | ||
| Progress | 390 | ||
| Long Cases | 391 | ||
| Long case: Sickle cell disease (SCD) | 391 | ||
| Background information | 391 | ||
| Basic defect | 391 | ||
| Definitions | 392 | ||
| Diagnosis | 393 | ||
| Sickle cell trait | 393 | ||
| Sickle cell anaemia (SCA): clinical course | 393 | ||
| Effects of α-thalassaemia | 393 | ||
| Major complications | 394 | ||
| Splenic sequestration crisis | 394 | ||
| Infection: overwhelming sepsis | 395 | ||
| Cerebral infarction (cerebrovascular accident) | 395 | ||
| Kidney involvement and hypertension | 396 | ||
| Lung disease: acute chest syndrome (ACS) and pulmonary hypertension (PH) | 397 | ||
| Eye involvement: proliferative sickle retinopathy (PSR) and vitreous haemorrhage | 398 | ||
| Crises (vaso-occlusive crises [VOC]; infarctive crises) | 398 | ||
| Erectile problems: priapism | 398 | ||
| Limb (bone and joint) involvement, including avascular necrosis (AVN) | 399 | ||
| Leg ulceration | 399 | ||
| Haemolysis and anaemia (chronic) | 399 | ||
| Haemolytic crisis | 400 | ||
| Haemolysis related to transfusion therapy | 400 | ||
| Hyperviscosity | 400 | ||
| Hand–Foot syndrome (dactylitis) | 400 | ||
| Hepatobiliary and abdominal involvement | 400 | ||
| Aplastic crisis | 400 | ||
| Anaesthetic considerations | 401 | ||
| Alloimmunisation and autoimmunisation | 401 | ||
| Accumulation of iron (transfusion haemosiderosis) | 401 | ||
| History | 401 | ||
| Presenting complaint | 401 | ||
| Past history | 401 | ||
| Current status | 402 | ||
| Social history | 402 | ||
| Family history | 402 | ||
| Immunisation | 402 | ||
| Examination | 402 | ||
| General inspection | 402 | ||
| Directed examination for complications | 403 | ||
| Upper limbs | 403 | ||
| Head and neck | 403 | ||
| Chest | 403 | ||
| Abdomen | 403 | ||
| Lower limbs | 403 | ||
| Management | 403 | ||
| 1. Management of acute complications | 403 | ||
| Acute transfusion therapy—simple transfusion and exchange transfusion | 403 | ||
| Acute crises—supportive measures | 404 | ||
| 2. Chronic transfusion therapy—prevention of primary manifestations | 404 | ||
| 3. Hydroxyurea—prevention of primary manifestations | 405 | ||
| 4. Avoiding known precipitants | 405 | ||
| 5. Elective surgery | 406 | ||
| 6. Complications of medical treatment | 406 | ||
| 7. Chronic problems | 406 | ||
| Related to intravascular sickling | 406 | ||
| Related to susceptibility to encapsulated organisms | 406 | ||
| Related to chronic haemolytic anaemia | 406 | ||
| 8. Specific discussion areas | 407 | ||
| Education | 407 | ||
| Issues of adolescence | 407 | ||
| Pregnancy | 407 | ||
| Genetic counselling | 407 | ||
| Neonatal screening—preventing early mortality: penicillin, immunisation, education | 408 | ||
| Pain | 408 | ||
| Haematopoietic stem cell transplantation (HSCT)—potential cure | 408 | ||
| Cure through stem cell transplantation | 409 | ||
| Transition to adult care and prognosis | 409 | ||
| Therapies being investigated | 410 | ||
| Long Cases | 410 | ||
| Long case: Thalassaemia—β-thalassaemia major (β-TM) | 410 | ||
| Background information | 410 | ||
| Basic defect (β-thalassaemia major) | 410 | ||
| Genetics | 410 | ||
| Diagnosis | 411 | ||
| Major complications | 411 | ||
| Excess erythropoiesis (causing bone marrow expansion) | 411 | ||
| Iron overload (causing parenchymal organ toxicity) | 411 | ||
| Endocrine failure (in order of frequency) | 412 | ||
| Cardiac involvement | 413 | ||
| Hepatic involvement | 413 | ||
| Chronic haemolysis | 413 | ||
| Alloimmunisation | 414 | ||
| Hypercoagulable state | 414 | ||
| Infection | 414 | ||
| History | 414 | ||
| Presenting complaint | 414 | ||
| Family history | 414 | ||
| Specific complications | 414 | ||
| Past history | 415 | ||
| Social history | 415 | ||
| Examination | 415 | ||
| Standard management principles | 415 | ||
| Blood transfusion | 415 | ||
| Chelation with deferasirox (DFS) | 416 | ||
| Chelation with desferrioxamine (DFO) | 416 | ||
| Splenectomy | 417 | ||
| Immunisation | 417 | ||
| Common management issues | 417 | ||
| When to start transfusions? | 417 | ||
| Which transfusion regimen? | 417 | ||
| When to chelate? | 418 | ||
| How to chelate? | 418 | ||
| Are there alternative chelators? | 418 | ||
| Curative therapies: haematopoietic stem cell transplantation (HSCT) | 418 | ||
| Chelation after bone marrow transplantation | 419 | ||
| Gene therapy | 419 | ||
| Fetal haemoglobin (Hb F) augmentation: HU, r-HuEPO, SCFAs | 419 | ||
| Hepatitis C | 419 | ||
| Prenatal diagnosis (PND) | 420 | ||
| Preimplantation genetic diagnosis (PGD) | 420 | ||
| Follow-up | 420 | ||
| Prognosis | 421 | ||
| The issue of further children | 421 | ||
| Summary | 421 | ||
| Short Cases | 422 | ||
| Short case: The haematological system | 422 | ||
| Anaemia | 428 | ||
| 1. Microcytic | 428 | ||
| 2. Normocytic | 428 | ||
| Extrinsic causes | 428 | ||
| Intrinsic causes | 429 | ||
| 3. Macrocytic | 429 | ||
| Bleeding | 429 | ||
| Short case: Thalassaemia | 429 | ||
| Short case: Lymphadenopathy | 430 | ||
| Causes of cervical lymphadenopathy | 432 | ||
| Causes of generalised lymphadenopathy | 433 | ||
| Causes of lymphadenopathy (cervical [Cx] or generalised *) | 433 | ||
| Lymphadenopathy: a very abbreviated list: | 433 | ||
| Background information | 433 | ||
| Cervical lymphadenopathy | 433 | ||
| Aspects of a lymph node/lump/swelling | 436 | ||
| SPECTRAL aspects to a lump/swelling | 437 | ||
| Physical characteristics of normal nodes | 438 | ||
| Physical characteristics of pathological nodes | 438 | ||
| Differential diagnosis of cervical nodes | 438 | ||
| Lateral neck lumps other than lymph nodes | 439 | ||
| Branchial cyst | 439 | ||
| Cystic hygroma | 439 | ||
| Vascular tumours | 439 | ||
| Sternomastoid tumour | 439 | ||
| Recurrent parotitis with sialectasis | 439 | ||
| Midline neck lumps other than lymph nodes | 440 | ||
| Thyroglossal cyst | 440 | ||
| Ectopic thyroid | 440 | ||
| Dermoid cyst | 440 | ||
| Important points | 440 | ||
| Epitrochlear lymphadenopathy | 441 | ||
| Axillary lymphadenopathy | 441 | ||
| Inguinal lymphadenopathy | 441 | ||
| Brief list of typical causes for typical locations of nodes | 442 | ||
| Examination procedure | 442 | ||
| Investigating lymphadenopathy | 443 | ||
| 11 Neonatology | 444 | ||
| Short Cases | 444 | ||
| Short case: The neonatal examination | 444 | ||
| Inspect: growth, colour, respirations, posture, movements, cry | 445 | ||
| Systematic examination: head to toe | 446 | ||
| Head, neck and upper limbs | 446 | ||
| Cardiorespiratory system | 447 | ||
| Abdomen and genitalia | 447 | ||
| Hip examination | 448 | ||
| Lower limbs | 448 | ||
| Nervous system and spine | 448 | ||
| Skin | 449 | ||
| Why 3 and 5 are the most useful numbers in neonatology | 450 | ||
| Complications of prematurity | 450 | ||
| Short case: The 6-week check | 451 | ||
| Short case: Vascular birthmarks | 451 | ||
| 12 Nephrology | 454 | ||
| Long Cases | 454 | ||
| Long case: Chronic kidney disease (CKD) | 454 | ||
| Background information | 455 | ||
| Aetiology | 455 | ||
| Glomerular filtration rate (GFR) and clinical correlates | 456 | ||
| Aide-mémoire for GFR | 457 | ||
| Useful calculations | 457 | ||
| Calculation of GFR | 457 | ||
| Assessment of rate of evolution of renal failure | 457 | ||
| History | 458 | ||
| Presenting complaint | 458 | ||
| Past history of underlying kidney disease | 458 | ||
| Current symptoms | 458 | ||
| Family history | 458 | ||
| Current management | 458 | ||
| Social history | 458 | ||
| Understanding of disease | 459 | ||
| Examination | 459 | ||
| Management | 459 | ||
| Electrolytes and fluids 1—control of serum potassium | 460 | ||
| Hyperkalaemia | 460 | ||
| Treatment of acute hyperkalaemia | 460 | ||
| Electrolytes and fluids 2—control of salt and fluid balance | 461 | ||
| Salt and fluid restriction | 461 | ||
| High salt and fluid intake | 461 | ||
| Hypertension | 461 | ||
| Acute hypertensive crisis | 462 | ||
| Acid–base balance | 463 | ||
| CKD-mineral and bone disorder (CKD-MBD) | 463 | ||
| Control of serum phosphate | 464 | ||
| Calcium supplementation | 464 | ||
| Vitamin D supplementation | 464 | ||
| X-ray bones annually | 465 | ||
| Stature (growth) | 465 | ||
| Recombinant human growth hormone (rhGH) | 466 | ||
| Mechanism | 466 | ||
| Intake: nutrition | 466 | ||
| Anaemia | 467 | ||
| Recombinant human erythropoietin (r-HuEPO) | 467 | ||
| Renal support and replacement | 468 | ||
| Dialysis | 468 | ||
| Renal transplantation (RTx) | 470 | ||
| Immunosuppressive therapy | 471 | ||
| Antiproliferatives | 471 | ||
| Biological agents | 472 | ||
| Management | 473 | ||
| Allograft loss | 474 | ||
| Recurrence rates in transplants (histological recurrence) | 474 | ||
| Social problems | 475 | ||
| Disease burden | 475 | ||
| Cardiovascular disease (CVD) | 475 | ||
| Minor issues | 476 | ||
| Congestive cardiac failure | 476 | ||
| Drugs | 476 | ||
| Other issues | 476 | ||
| Genetic counselling | 476 | ||
| Monitoring | 476 | ||
| Long case: Nephrotic syndrome | 476 | ||
| Background information | 477 | ||
| Definition | 477 | ||
| Aetiology | 478 | ||
| Minimal change disease (MCD) | 478 | ||
| Glomerulonephropathies other than MCD | 479 | ||
| Definitions used in INS | 479 | ||
| Differentiating between MCD and other glomerulonephropathies | 479 | ||
| Complications of NS | 479 | ||
| Infection | 479 | ||
| Complications of treatment | 480 | ||
| Oedema | 480 | ||
| Thrombosis and embolism | 480 | ||
| Hyperlipidaemia and cardiovascular disease risk | 481 | ||
| Growth disturbance | 481 | ||
| Hypocalcaemia | 481 | ||
| Hypothyroidism | 481 | ||
| Negative nitrogen balance | 481 | ||
| End-stage kidney disease (ESKD) | 481 | ||
| History | 482 | ||
| Presenting complaint | 482 | ||
| Current symptoms | 482 | ||
| Past history | 482 | ||
| 13 Neurology | 499 | ||
| Long cases | 499 | ||
| Long case: Cerebral palsy (CP) | 499 | ||
| Background information | 499 | ||
| Classification | 499 | ||
| Causes | 500 | ||
| Diagnostic assessment | 501 | ||
| History | 503 | ||
| Presenting complaint | 503 | ||
| Current symptoms/functioning | 503 | ||
| Birth history | 504 | ||
| Developmental history | 504 | ||
| Family history | 504 | ||
| Management | 504 | ||
| Social history | 504 | ||
| Understanding of problems and prognosis | 505 | ||
| Important signs in examination of the child with CP | 505 | ||
| General observations | 505 | ||
| Demonstration of signs of CP | 505 | ||
| Complications of CP | 506 | ||
| Investigations | 506 | ||
| Management | 506 | ||
| Role of the general paediatrician | 507 | ||
| General nursing care | 507 | ||
| Physiotherapy, occupational therapy, splints/orthoses | 507 | ||
| Three-dimensional (3-D) gait analysis: computerised gait laboratories | 508 | ||
| Management of spasticity | 508 | ||
| Botulinum toxin A (BTX-A) | 508 | ||
| Intrathecal baclofen (IT-BLF) | 509 | ||
| Selective dorsal rhizotomy (SDR) | 509 | ||
| Other treatments | 510 | ||
| Orthopaedic procedures | 510 | ||
| Single-event multilevel surgery (SEMLS) | 510 | ||
| Surgical procedures for spastic hip displacement | 510 | ||
| Other orthopaedic procedures | 510 | ||
| Gastrointestinal (GIT) problems: dysphagia and nutritional issues | 511 | ||
| Respiratory problems | 511 | ||
| Excessive salivation (sialorrhoea) | 512 | ||
| Speech therapy | 512 | ||
| Social implications | 512 | ||
| Sleep problems | 512 | ||
| Seizures | 512 | ||
| Cognition/learning and communication | 513 | ||
| Visual impairment | 513 | ||
| Hearing impairment | 513 | ||
| Dental issues | 513 | ||
| Pain | 513 | ||
| Schooling | 514 | ||
| Intervention programs—orthodox | 514 | ||
| Intervention programs—less orthodox/unorthodox | 514 | ||
| Drugs | 514 | ||
| Prognosis | 514 | ||
| Long case: Dystrophinopathies—Duchenne muscular dystrophy (DMD) | 515 | ||
| Background information: genetics of DMD | 515 | ||
| Molecular tests for DMD | 516 | ||
| Recent advances | 517 | ||
| History | 518 | ||
| Presenting complaint | 518 | ||
| Current problems | 518 | ||
| Past history | 518 | ||
| Current management | 519 | ||
| Social history | 519 | ||
| Family history | 519 | ||
| Understanding of disease | 519 | ||
| Examination | 519 | ||
| General inspection | 519 | ||
| Gait | 519 | ||
| Muscle power | 521 | ||
| Remainder of examination | 521 | ||
| Management | 521 | ||
| Medical management | 522 | ||
| Corticosteroids | 522 | ||
| Rehabilitation management: physiotherapy, occupational therapy and orthotics | 523 | ||
| Physiotherapy details | 523 | ||
| Occupational therapy details | 523 | ||
| Equipment details | 524 | ||
| Orthopaedic surgery | 524 | ||
| Scoliosis management | 524 | ||
| Bone health | 525 | ||
| Pubertal delay | 525 | ||
| Restrictive lung disease (RLD) and non-invasive ventilation (NIV) | 525 | ||
| Cardiac disease | 527 | ||
| Gastrointestinal and oral aspects | 528 | ||
| Nutritional issues | 528 | ||
| Urinary problems | 528 | ||
| Anaesthetic issues | 528 | ||
| Speech and language management | 529 | ||
| Psychosocial | 529 | ||
| Schooling, career prospects, lifestyle | 530 | ||
| Carrier females | 530 | ||
| Genetic counselling | 530 | ||
| Long case: Seizures and epileptic syndromes | 531 | ||
| Background information | 531 | ||
| Neonatal period | 533 | ||
| Infancy | 534 | ||
| Childhood | 536 | ||
| Adolescence–adult | 540 | ||
| Less-specific age relationship | 542 | ||
| Summary | 542 | ||
| SCN1A-related seizure disorders | 542 | ||
| Status epilepticus (SE) | 543 | ||
| Ketogenic diet (KD) | 544 | ||
| History | 545 | ||
| Examination | 546 | ||
| Investigations | 546 | ||
| Electroencephalogram (EEG) | 546 | ||
| Biochemical evaluation | 547 | ||
| Imaging: structural | 547 | ||
| Imaging: functional | 547 | ||
| Common management issues | 548 | ||
| Increasing frequency of seizures and intractable epilepsy | 548 | ||
| Question the diagnosis | 548 | ||
| Question the medication | 548 | ||
| Question an intercurrent problem | 548 | ||
| Are there unrecognised precipitating factors? | 548 | ||
| Is this form of epilepsy commonly a treatment problem? | 549 | ||
| Advice to parents (and schoolteachers) | 549 | ||
| Management during a seizure | 549 | ||
| Everyday childhood/adolescent activities: safety considerations | 549 | ||
| Strategies to avoid drowning | 549 | ||
| Strategies to prevent burns | 549 | ||
| Strategies to avoid significant/traumatic injuries | 549 | ||
| Strategies to avoid suffocation | 549 | ||
| Strategies to avoid abrasions, bruising or cuts | 549 | ||
| Strategies to avoid medication-related problems | 550 | ||
| Avoid overprotection | 550 | ||
| Driver’s licence | 550 | ||
| Avoid known precipitants | 550 | ||
| Rationale for treatment | 550 | ||
| Probable duration of treatment | 550 | ||
| Genetic counselling | 550 | ||
| Anticonvulsant medications | 551 | ||
| General aims | 551 | ||
| Which drugs can have serum levels measured? | 551 | ||
| Which drug is preferable in which type of seizure? | 551 | ||
| What side effects are likely? | 551 | ||
| Are any of the newer AEDs likely to be of use here? | 551 | ||
| Eslicarbazepine acetate (ESL) | 552 | ||
| Gabapentin (GBP) (infrequently used) | 553 | ||
| Lacosamide (LCM) | 553 | ||
| Lamotrigine (LTG) | 553 | ||
| Levetiracetam (LEV) | 554 | ||
| Oxcarbazepine (OXC) | 554 | ||
| Rufinamide | 554 | ||
| Stiripentol | 554 | ||
| Tiagabine (TGB) (rarely used) | 554 | ||
| Topiramate (TPM) | 554 | ||
| Vigabatrin (VGB) | 555 | ||
| Zonisamide (ZNS) | 555 | ||
| Sodium channel blockers | 555 | ||
| What to try in intractable seizures? | 555 | ||
| Surgical treatment | 555 | ||
| Management of the prolonged seizure | 556 | ||
| At home | 556 | ||
| In ambulance/at hospital | 557 | ||
| Management of the first non-febrile seizure | 557 | ||
| Psychosocial issues | 557 | ||
| Parents | 557 | ||
| Children | 558 | ||
| Long case: Spina bifida (SB)/myelomeningocele (MMC) | 558 | ||
| History | 559 | ||
| Current history | 559 | ||
| Specific medical problems | 560 | ||
| Past history | 560 | ||
| Social history | 560 | ||
| What assistance does the family receive? | 560 | ||
| Child’s adaptation to disability | 560 | ||
| Examination | 560 | ||
| Management | 561 | ||
| Major disabilities | 561 | ||
| Paralysis | 561 | ||
| Sphincter disturbance | 561 | ||
| Bladder and renal function | 561 | ||
| Bowel | 562 | ||
| Hydrocephalus | 563 | ||
| The Arnold–Chiari II malformation, syringomyelia and scoliosis | 564 | ||
| The tethered cord | 565 | ||
| Neurological disease progression in adolescence | 565 | ||
| Other significant disabilities (the six Ss) | 566 | ||
| Sleep-disordered breathing (SDB) | 566 | ||
| Spine (scoliosis, kyphosis)/Skeleton (hips, knees, ankles)/Fractures, Bone Health | 566 | ||
| Skin | 566 | ||
| Senses: vision (squint) and hearing | 567 | ||
| Size | 567 | ||
| Seizures | 567 | ||
| Other problems | 567 | ||
| Social issues | 567 | ||
| Transition to adult care | 568 | ||
| Sex education | 568 | ||
| Young women with MMC | 568 | ||
| Young men with MMC | 568 | ||
| Latex allergy | 569 | ||
| Genetic issues | 569 | ||
| Prognosis | 569 | ||
| Long case: Neurofibromatous type 1 (NF1) | 570 | ||
| Background | 570 | ||
| Age-related presentation | 570 | ||
| Diagnosis | 571 | ||
| Diagnostic criteria for NF1 | 571 | ||
| Skin manifestations: café-au-lait macules, freckling, neurofibromas | 571 | ||
| Vision | 572 | ||
| Neurological system, learning issues and behavioural problems | 572 | ||
| Musculoskeletal | 572 | ||
| Hypertension and vasculopathy | 572 | ||
| Cardiac | 573 | ||
| Growth | 573 | ||
| Tumours | 573 | ||
| Gastrointestinal features | 574 | ||
| Correlations between mutant alleles and clinical phenotypes | 574 | ||
| Dual diagnoses and specific phenotypes | 574 | ||
| History | 574 | ||
| Presenting complaint | 574 | ||
| Current symptoms | 574 | ||
| Past history | 575 | ||
| Current management | 576 | ||
| Social history | 576 | ||
| Family history | 576 | ||
| Understanding of disease | 576 | ||
| Examination | 576 | ||
| Management | 576 | ||
| Skin: discrete neurofibromas and plexiform neurofibromas | 576 | ||
| Vision and neurological sequelae | 577 | ||
| Learning and behavioural issues | 577 | ||
| Musculoskeletal issues | 577 | ||
| Hypertension, vasculopathy and cardiac issues | 578 | ||
| Recommended surveillance | 578 | ||
| Genetic counselling | 578 | ||
| Long case: Sturge-Weber syndrome (SWS) | 578 | ||
| Background | 578 | ||
| Classification | 579 | ||
| Skin manifestations | 580 | ||
| Seizures | 580 | ||
| Focal neurology | 581 | ||
| Vision | 581 | ||
| Cognitive, learning, behavioural and psychosocial aspects | 581 | ||
| Headache | 582 | ||
| Body asymmetry and overlap with other syndromes linked to Weber | 582 | ||
| Other anomalies: endocrine; ears, nose and throat (ENT); OSA | 582 | ||
| History | 583 | ||
| Presenting complaint | 583 | ||
| Current symptoms | 583 | ||
| Past history | 584 | ||
| Current management | 584 | ||
| Social history | 584 | ||
| Understanding of disease | 584 | ||
| Examination | 584 | ||
| Management | 585 | ||
| Skin manifestations | 585 | ||
| Seizures | 585 | ||
| Focal neurology | 585 | ||
| Vision | 585 | ||
| Cognitive, learning and behavioural aspects | 585 | ||
| Headache | 586 | ||
| Body asymmetry and overlap with other syndromes linked to Weber | 586 | ||
| Other anomalies: endocrine; ears, nose and throat; OSA | 586 | ||
| Current research | 586 | ||
| Long case: Tuberous sclerosis complex (TSC) | 586 | ||
| Background | 586 | ||
| Basic defect | 586 | ||
| Diagnosis | 587 | ||
| Mnemonics for diagnostic criteria | 588 | ||
| Age-related manifestations | 588 | ||
| Dermatological and dental | 589 | ||
| Ophthalmologic | 589 | ||
| CNS: cerebral structure, tumours, tubers and terminology | 589 | ||
| Epilepsy | 590 | ||
| Intellectual impairment | 590 | ||
| Behavioural and neuropsychiatric issues | 590 | ||
| Cardiovascular | 590 | ||
| Pulmonary | 590 | ||
| Renal | 591 | ||
| Endocrine, gastrointestinal and skeletal systems | 591 | ||
| History | 591 | ||
| Presenting complaint | 591 | ||
| Current symptoms | 591 | ||
| Past history | 592 | ||
| Current management | 592 | ||
| Social history | 592 | ||
| Family history | 592 | ||
| Understanding of disease | 592 | ||
| Examination | 593 | ||
| Management | 593 | ||
| Epilepsy | 593 | ||
| Brain manifestations: SEGA, hydrocephalus, MRI surveillance, TAND | 594 | ||
| Renal manifestations | 594 | ||
| Pulmonary manifestations | 594 | ||
| Dermatological, dental, cardiological and ophthalmological manifestations | 595 | ||
| Genotype—phenotype correlations | 595 | ||
| Short case: Developmental assessment | 595 | ||
| Short case: Eye examination—general | 598 | ||
| Background information: some important eye conditions | 598 | ||
| Lids | 598 | ||
| Ptosis (short for blepharoptosis) | 598 | ||
| Iris | 598 | ||
| Aniridia | 598 | ||
| Lens | 598 | ||
| Cataract | 598 | ||
| Ectopia lentis | 598 | ||
| Retina | 599 | ||
| Colobomata | 599 | ||
| Optic nerve hypoplasia | 599 | ||
| Retinopathy of prematurity (ROP) | 599 | ||
| Squint (strabismus) | 599 | ||
| Non-paralytic | 600 | ||
| Paralytic | 600 | ||
| Procedure | 600 | ||
| Visual acuity | 603 | ||
| Stages of visual development (in relation to clinically applicable testing) | 603 | ||
| Short case: Eye examination—nystagmus | 604 | ||
| Examination procedure | 605 | ||
| Short case: Eye examination—proptosis and exophthalmos | 606 | ||
| Thyroid eye disease (TED) | 608 | ||
| Examination procedure | 608 | ||
| Short case: Motor cranial nerves | 610 | ||
| Short case: Neurological assessment of the upper limbs | 612 | ||
| Inspection | 612 | ||
| Palpation | 613 | ||
| Tone | 613 | ||
| Power | 613 | ||
| Reflexes | 614 | ||
| Coordination | 614 | ||
| Sensation | 614 | ||
| Function | 614 | ||
| Summary | 614 | ||
| Short case: Gait | 616 | ||
| Short case: Neurological assessment of the lower limbs | 620 | ||
| Inspection | 620 | ||
| Palpation | 620 | ||
| Tone | 620 | ||
| Power | 621 | ||
| Reflexes | 621 | ||
| Coordination | 621 | ||
| Sensation | 622 | ||
| Summary | 622 | ||
| Short case: Cerebellar function | 622 | ||
| Short case: Large head | 623 | ||
| Background information | 623 | ||
| Examination | 624 | ||
| Infant | 624 | ||
| Older child | 627 | ||
| Short case: Small head | 628 | ||
| Background information | 628 | ||
| Craniosynostosis | 628 | ||
| Microencephaly | 628 | ||
| Examination | 629 | ||
| Investigations | 633 | ||
| Imaging | 633 | ||
| Blood tests | 633 | ||
| Urine | 633 | ||
| CSF | 633 | ||
| Examination procedure for craniosynostosis | 633 | ||
| Short case: Seizures | 634 | ||
| Recurrent seizures | 634 | ||
| Recent acute seizure | 635 | ||
| Short case: Facial weakness | 638 | ||
| Short case: Floppy infant | 639 | ||
| Short case: Hemiplegia | 647 | ||
| Cardiovascular causes | 648 | ||
| Traumatic causes | 648 | ||
| Infective causes | 648 | ||
| Systemic disorders | 648 | ||
| Examination | 648 | ||
| General observations | 648 | ||
| Gait (older child) or gross motor assessment (infant) | 648 | ||
| Lower limbs | 649 | ||
| Abdominal reflexes | 649 | ||
| Upper limbs | 649 | ||
| Head | 649 | ||
| Cardiovascular | 650 | ||
| Spine | 650 | ||
| Urinalysis | 650 | ||
| Short case: Intellectual impairment | 650 | ||
| Examination | 650 | ||
| Minimum investigations | 652 | ||
| Blood | 652 | ||
| Imaging | 653 | ||
| Neuropsychological assessment | 653 | ||
| Further investigations | 653 | ||
| Blood | 653 | ||
| Urine | 654 | ||
| CSF | 654 | ||
| Tissue biopsy and electron microscopy | 654 | ||
| Electrophysiological studies | 654 | ||
| Other | 654 | ||
| Short case: Involuntary movements | 654 | ||
| Background information | 654 | ||
| Examination | 655 | ||
| Short case: Neurofibromatosis type 1 (NF1) | 657 | ||
| Short case: Sturge-Weber syndrome (SWS) | 658 | ||
| Short case: Tuberous sclerosis complex (TSC) | 659 | ||
| Short case: Neuromuscular assessment | 661 | ||
| Short case: Scoliosis | 662 | ||
| Short case: Spina bifida (SB)/Myelomeningocele (MMC) | 665 | ||
| Examination | 666 | ||
| Short case: Ataxia | 669 | ||
| Examination procedure | 671 | ||
| Reference | 673 | ||
| 14 Oncology | 674 | ||
| Long Case | 674 | ||
| Long case: Oncology | 674 | ||
| History: an overview | 676 | ||
| Before diagnosis | 676 | ||
| Post-diagnosis phase | 677 | ||
| Current status of the patient | 677 | ||
| Other | 677 | ||
| Examination | 678 | ||
| Management plan | 678 | ||
| Discussion points | 678 | ||
| Relapse of primary disease | 678 | ||
| Growth and development | 678 | ||
| Cardiac toxicity | 679 | ||
| Fertility preservation | 679 | ||
| Bone health and low bone mineral density (BMD) | 679 | ||
| Metabolic syndrome and obesity | 680 | ||
| Thyroid dysfunction | 680 | ||
| Cognitive/psychosocial effects | 680 | ||
| Development of second tumour | 680 | ||
| Social issues | 680 | ||
| Schooling | 680 | ||
| Infection | 681 | ||
| The child on chemotherapy | 681 | ||
| The child off chemotherapy | 682 | ||
| Immunisation | 682 | ||
| Immunisation with standard dose chemotherapy | 682 | ||
| Immunisation with HSCT | 682 | ||
| Issues related to ongoing chemotherapy | 683 | ||
| Crisis intervention | 683 | ||
| Drug toxicities | 683 | ||
| Febrile neutropenic episodes | 683 | ||
| Pulmonary infections | 684 | ||
| Central venous access devices | 684 | ||
| Supportive care | 684 | ||
| Mouth care | 684 | ||
| Antiemetics | 684 | ||
| Haematopoietic stem cell transplantation (HSCT) | 684 | ||
| Allogeneic stem cell transplantation: selected haematological malignancies | 685 | ||
| HSCT: bone marrow transplantation (BMTx) | 685 | ||
| After BMTx/HSCT | 686 | ||
| Late effects post-BMTx/HSCT | 686 | ||
| Alternative transplantations: umbilical cord blood transplantation (UCBT) and haploidentical transplantation | 686 | ||
| Therapeutic modifications: risk-adapted therapy | 686 | ||
| Cardiopulmonary | 687 | ||
| Endocrine | 687 | ||
| Genitourinary | 687 | ||
| Neurological | 687 | ||
| Second malignancy | 687 | ||
| The dying child | 687 | ||
| Short Case | 688 | ||
| SHORT case: Late effects of oncology treatment | 688 | ||
| 15 The Respiratory System | 692 | ||
| Long Cases | 692 | ||
| Long case: Asthma | 692 | ||
| History | 693 | ||
| Presenting complaint | 693 | ||
| Symptoms | 693 | ||
| Pattern of episodes | 693 | ||
| Precipitants | 694 | ||
| Typical acute exacerbation | 694 | ||
| Social history | 694 | ||
| Past history | 694 | ||
| Family history | 694 | ||
| Management | 694 | ||
| Understanding of disease | 694 | ||
| Examination | 695 | ||
| General impression | 695 | ||
| Vital signs | 695 | ||
| Respiratory examination | 695 | ||
| General examination | 695 | ||
| Signs of life-threatening asthma | 695 | ||
| Diagnosis and investigations | 695 | ||
| Peak expiratory flow rate (PEFR) measurements and spirometry | 695 | ||
| Chest X-ray | 696 | ||
| Other investigations | 696 | ||
| Treatment | 696 | ||
| Acute | 696 | ||
| Preventative | 697 | ||
| 1. Modification/avoidance of precipitants | 697 | ||
| 2. Inhaled corticosteroids (ICS): fluticasone propionate (FP), budesonide (BUD), hydrofluoroalkane-beclomethasone dipropionate (HFA-BDP), ciclesonide (CIC), mometasone (MOM) | 698 | ||
| 3. Cromones: sodium cromoglycate, nedocromil sodium | 698 | ||
| 4. Leukotriene modifiers (LTMs) | 698 | ||
| 5. Long-acting beta-2 agonists (LABAs): salmeterol xinafoate, eformoterol fumarate dihydrate | 699 | ||
| 6. Combination therapies | 700 | ||
| 7. Theophylline | 700 | ||
| 8. Omalizumab | 700 | ||
| 9. Other treatments | 700 | ||
| Smoking | 700 | ||
| Delivery methods | 701 | ||
| Spacers | 701 | ||
| Nebuliser therapy | 701 | ||
| Dry powder inhalers (DPIs) | 701 | ||
| Pressurised metered dose inhalers (pMDIs) | 701 | ||
| Optimum management for the child | 702 | ||
| Common management issues | 702 | ||
| Is control optimal at home? | 702 | ||
| Are there any upper airway issues? | 702 | ||
| Is the crisis plan appropriate? | 703 | ||
| Is there adequate education of those involved? | 703 | ||
| What is the main worry of the parents? | 703 | ||
| Is there a problem with adherence to treatment? | 703 | ||
| Is there an inappropriate amount of school being missed? | 704 | ||
| Is this severe refractory asthma or difficult asthma? | 704 | ||
| Are social supports sufficient? | 704 | ||
| Is this a case for psychological assessment and family therapy? | 704 | ||
| Useful websites | 704 | ||
| Long case: NICU graduate—Chronic lung disease/bronchopulmonary dysplasia (CLD/BPD) | 705 | ||
| History | 707 | ||
| Presenting complaint | 707 | ||
| Past history | 707 | ||
| Current status | 707 | ||
| Social history | 708 | ||
| Immunisation | 708 | ||
| Examination | 708 | ||
| Management | 710 | ||
| Growth and development | 710 | ||
| Nutrition | 710 | ||
| Obstructive airways disease and bronchodilators | 711 | ||
| Fluid balance and diuretics | 711 | ||
| Immunisation and RSV immune prophylaxis | 711 | ||
| Avoidance of tobacco smoke | 711 | ||
| Social issues | 712 | ||
| Associated apnoea and bradycardia | 712 | ||
| Other problems | 712 | ||
| Prognosis | 712 | ||
| Long case: Cystic fibrosis (CF) | 713 | ||
| Genetics | 713 | ||
| History | 714 | ||
| Presenting complaint | 714 | ||
| Current status | 715 | ||
| Respiratory disease | 715 | ||
| Gastrointestinal disease | 715 | ||
| Other systems | 715 | ||
| Past history of CF | 716 | ||
| Social history | 716 | ||
| Disease impact on patient | 716 | ||
| Disease impact on parents | 716 | ||
| Disease impact on siblings | 716 | ||
| Disease impact on family unit | 717 | ||
| Social supports | 717 | ||
| Coping | 717 | ||
| Access | 717 | ||
| Family history and genetic aspects | 717 | ||
| Immunisation | 717 | ||
| Examination | 717 | ||
| Investigations | 720 | ||
| Diagnostic | 720 | ||
| Neonatal screening | 720 | ||
| Sweat testing | 720 | ||
| Other | 721 | ||
| Monitoring of disease | 721 | ||
| Other investigations as indicated | 721 | ||
| Management | 721 | ||
| Hospitalisation | 721 | ||
| Treatment of lung disease | 722 | ||
| CF microbiology: ‘old’ established and ‘new’ emerging pathogens | 722 | ||
| Antibiotics | 723 | ||
| Eradication of Pseudomonas aeruginosa | 724 | ||
| Chest physiotherapy: airway clearance techniques | 724 | ||
| Nebulised treatment | 725 | ||
| Bronchodilator treatment | 725 | ||
| Hydrator treatment | 725 | ||
| Disease-modifying therapy: CFTR modulators | 725 | ||
| Anti-inflammatory treatment | 726 | ||
| Mucolytic treatment: dornase alfa (recombinant human deoxyribonuclease 1) (Pulmozyme) | 726 | ||
| Unproven (not really ‘alternative’) therapies | 726 | ||
| Allergic bronchopulmonary aspergillosis (ABPA) | 726 | ||
| Haemoptysis | 727 | ||
| Pneumothorax | 727 | ||
| Cor pulmonale or right-heart failure | 727 | ||
| Lung transplantation | 727 | ||
| End-of-life care | 729 | ||
| Invasive respiratory support | 730 | ||
| Non-invasive positive pressure ventilation (NPPV) | 730 | ||
| Immunisation | 730 | ||
| Burkholderia cepacia infection | 730 | ||
| Sinonasal disease | 730 | ||
| Treatment of gastrointestinal disease | 731 | ||
| Pancreatic insufficiency (PI) | 731 | ||
| Nutrition | 731 | ||
| Vitamins | 732 | ||
| Salt | 732 | ||
| Other gastrointestinal problems | 732 | ||
| Meconium ileus | 733 | ||
| Meconium ileus equivalent—distal intestinal obstruction syndrome (DIOS) | 733 | ||
| Rectal prolapse | 733 | ||
| CF-associated liver disease (CFLD): liver and biliary tract disease | 734 | ||
| Small bowel bacterial overgrowth (SBBOG) | 734 | ||
| Protracted nausea | 735 | ||
| Abdominal pain | 735 | ||
| Loss of weight | 735 | ||
| Fibrosing colonopathy | 735 | ||
| Cystic fibrosis-related diabetes (CFRD) | 736 | ||
| Treatment of other complications | 736 | ||
| Cystic fibrosis-related bone disease (cfr-bd) | 736 | ||
| Growth and recombinant human growth hormone (rhGH) | 737 | ||
| Adolescence and fertility | 737 | ||
| Drug allergies | 738 | ||
| Common management issues | 738 | ||
| What should the patient know about the illness? | 738 | ||
| How much should school/peers be told? | 738 | ||
| When should the patient take responsibility for self-care? | 738 | ||
| When should the patient transfer to adult care? | 738 | ||
| Is modification of current medical treatments warranted? | 738 | ||
| Is lung transplantation an option for this patient? | 739 | ||
| Is the family coping at present? | 739 | ||
| Are the parents planning more children? | 739 | ||
| Prognosis | 739 | ||
| Long case: Obstructive sleep apnoea (OSA) | 740 | ||
| Background information | 740 | ||
| Diagnosis of OSA | 741 | ||
| History | 742 | ||
| Presenting complaint | 742 | ||
| Symptoms | 742 | ||
| Social history | 743 | ||
| Past history | 743 | ||
| Family history | 743 | ||
| Allergies | 743 | ||
| Management | 743 | ||
| Understanding of disease | 744 | ||
| Examination | 744 | ||
| General impression | 744 | ||
| Respiratory and cardiovascular examinations | 744 | ||
| Neurological examination | 745 | ||
| Management | 745 | ||
| Surgical procedures | 745 | ||
| Medical therapies | 746 | ||
| Mechanical ventilatory support | 746 | ||
| Short Cases | 746 | ||
| Short case: The respiratory system | 746 | ||
| Short case: The chest | 750 | ||
| Short case: Stridor | 750 | ||
| Short case: Chest X-rays | 752 | ||
| Reference | 754 | ||
| 16 Rheumatology | 755 | ||
| Long Cases | 755 | ||
| Long case: Juvenile idiopathic arthritis (JIA) | 755 | ||
| Current classification of JIA | 756 | ||
| Oligoarthritis (four or fewer joints involved within the first 6 months); oJIA | 756 | ||
| Persistent oligoarthritis | 756 | ||
| Extended oligoarthritis | 757 | ||
| Polyarthritis RF-negative (pJIA) | 757 | ||
| Polyarthritis RF-positive (pJIA) | 757 | ||
| Systemic JIA (sJIA) | 757 | ||
| Enthesitis-related arthritis (ERA) | 758 | ||
| Psoriatic JIA (psJIA) | 759 | ||
| Undifferentiated arthritis | 759 | ||
| Presentation of a long case with JIA | 759 | ||
| History | 759 | ||
| Presenting complaint | 759 | ||
| Current symptoms | 761 | ||
| Past history | 761 | ||
| Management | 761 | ||
| Social history | 761 | ||
| Family history | 762 | ||
| Examination | 762 | ||
| Diagnosis | 762 | ||
| Investigations | 762 | ||
| Blood tests | 763 | ||
| Haematology | 763 | ||
| Serology | 763 | ||
| Immunology | 763 | ||
| HLA typing | 763 | ||
| Imaging | 763 | ||
| Plain radiography | 763 | ||
| Orthopantomogram (OPG) | 763 | ||
| Ultrasound | 764 | ||
| Magnetic resonance imaging (MRI)—enhanced with gadolinium (gadopentetate dimeglumine) | 764 | ||
| Management | 764 | ||
| 1. Switch off inflammation | 764 | ||
| Local corticosteroid injections | 764 | ||
| Systemic corticosteroids | 764 | ||
| Non-steroidal anti-inflammatory drugs (NSAIDs) | 765 | ||
| Conventional disease-modifying anti-rheumatic drugs (DMARDs) | 765 | ||
| Methotrexate (MTX) | 765 | ||
| Sulfasalazine (SSZ) | 766 | ||
| Leflunomide (LEF) | 766 | ||
| Biological disease-modifying anti-rheumatic drugs (bDMARDs) | 766 | ||
| TNF Inhibitors (TNFI) | 767 | ||
| Adalimumab (ADA) (humanised monoclonal anti-TNF-α antibody) | 767 | ||
| Etanercept (ETN) (recombinant p75 soluble tumour necrosis factor receptor [sTNFR]: Fc fusion protein) | 767 | ||
| Infliximab (IFX) (chimeric monoclonal anti-TNF-α antibody) | 768 | ||
| IL antagonists | 768 | ||
| Anakinra (ANA) (recombinant IL-1 receptor antagonist) | 768 | ||
| Tocilizumab (TCZ) (humanised anti-interleukin-6 [IL-6] receptor antibody) | 768 | ||
| Cell-targeting agents | 768 | ||
| Abatacept (ABA; CTLA4-Ig)—T-cell targeting | 768 | ||
| Rituximab (RTX) (chimeric monoclonal antibody targeting cells with CD20 surface markers)—B-cell targeting | 768 | ||
| Monitoring disease activity | 769 | ||
| Sequence of drugs/agents | 769 | ||
| 2. Provide analgesia and treat stiffness | 770 | ||
| Pain | 770 | ||
| Morning stiffness | 770 | ||
| 3. Maintain joint function | 770 | ||
| 4. Prevent deformities | 770 | ||
| 5. Treat complications | 771 | ||
| Eye involvement | 771 | ||
| Infection | 771 | ||
| Amyloidosis | 771 | ||
| 6. Ensure optimal nutrition | 771 | ||
| 7. Rehabilitation | 771 | ||
| Occupational therapy | 771 | ||
| Physiotherapy | 772 | ||
| Family support | 772 | ||
| 8. Ensure optimal psychosocial health | 772 | ||
| 9. Educate parents and patient regarding disease | 772 | ||
| Prognosis | 772 | ||
| Long case: Juvenile idiopathic inflammatory myopathies (JIIMs)—juvenile dermatomyositis (JDM) | 773 | ||
| Background | 773 | ||
| History | 776 | ||
| Presenting complaint | 776 | ||
| Current symptoms | 776 | ||
| Past history | 777 | ||
| Management | 777 | ||
| Social history | 777 | ||
| Family history | 777 | ||
| Examination | 777 | ||
| Management | 780 | ||
| Goals of JDM management | 780 | ||
| First-line treatment | 780 | ||
| Methotrexate (MTX) | 781 | ||
| Biological disease-modifying anti-rheumatic drugs (bDMARDs) | 782 | ||
| Intravenous immunoglobulin (IVIG) | 782 | ||
| Azathioprine (AZA) | 782 | ||
| Cyclophosphamide (CPA) | 783 | ||
| Tacrolimus (TAC) | 783 | ||
| Cyclosporine (CSA) | 783 | ||
| Hydroxychloroquine (HCQ) | 783 | ||
| Mycophenolate mofetil (MMF) | 784 | ||
| Diltiazem | 784 | ||
| Prognostic predictors | 784 | ||
| Life-threatening disease (e.g. myocarditis, severe dysphagia) | 784 | ||
| Extramuscular disease | 784 | ||
| Calcinosis cutis (CC) | 784 | ||
| Skin disease/protection from ultraviolet A and B light (UVA and UVB) | 785 | ||
| Osteoporosis | 785 | ||
| Rehabilitation | 785 | ||
| Prognosis | 785 | ||
| Long case: Systemic lupus erythematosus (SLE) | 786 | ||
| Background information | 786 | ||
| History | 787 | ||
| Presenting complaint | 787 | ||
| Symptoms | 787 | ||
| Past history | 787 | ||
| Management | 787 | ||
| Social history | 788 | ||
| Understanding of disease | 788 | ||
| Examination | 788 | ||
| General observations | 788 | ||
| Skin, hair and mucous membrane | 788 | ||
| Joints and bones | 788 | ||
| Neurological and eyes | 789 | ||
| Gait and lower limbs | 789 | ||
| Upper limbs and/or cerebellar involvement | 789 | ||
| Cranial nerves | 789 | ||
| Cardiorespiratory | 789 | ||
| Abdomen | 789 | ||
| Diagnosis | 789 | ||
| Investigations | 790 | ||
| Simple screening tests | 790 | ||
| More specific tests for pSLE | 791 | ||
| Blood | 791 | ||
| Cerebrospinal fluid | 791 | ||
| Imaging | 791 | ||
| Neurophysiological testing | 792 | ||
| Urine | 792 | ||
| Other | 792 | ||
| Management | 792 | ||
| General measures | 792 | ||
| Specific measures | 793 | ||
| Main agents used | 793 | ||
| Corticosteroids (CS) | 793 | ||
| Non-steroidal anti-inflammatory drugs (NSAlDs) | 794 | ||
| Hydroxychloroquine (HCQ) | 794 | ||
| Disease-modifying anti-rheumatic drugs (DMARDs) | 794 | ||
| Biological disease-modifying anti-rheumatic drugs (bDMARDs) | 795 | ||
| Intravenous immunoglobulin (IVIG) | 795 | ||
| Medications used for varying activity/severity of disease in SLE | 795 | ||
| Approach to treatment of specific system involvement | 795 | ||
| Life-threatening systemic disease | 795 | ||
| Kidneys | 796 | ||
| Hypertension | 797 | ||
| Cardiovascular | 797 | ||
| Pulmonary | 797 | ||
| Neuropsychiatric SLE (NP-SLE)/CNS lupus | 797 | ||
| Joints | 798 | ||
| Skin | 798 | ||
| Other organ system involvement | 798 | ||
| Gastrointestinal, liver and spleen involvement | 798 | ||
| Endocrine involvement | 799 | ||
| Antiphospholipid (aPL) antibodies | 799 | ||
| Neonatal lupus | 799 | ||
| Prognosis | 799 | ||
| Short Case | 800 | ||
| Short case: Joints | 800 | ||
| Examination | 800 | ||
| Specific joints | 802 | ||
| Upper limbs | 802 | ||
| Hands and wrists | 802 | ||
| Elbows | 803 | ||
| Shoulders | 803 | ||
| Jaw and neck | 803 | ||
| Thoracolumbar spine | 804 | ||
| Sacroiliac joints | 804 | ||
| Lower limbs | 804 | ||
| Hips | 804 | ||
| Knees | 805 | ||
| Ankles and feet | 805 | ||
| References | 805 | ||
| Suggested reading | 806 | ||
| Medical Books | 806 | ||
| Medical Journals | 807 | ||
| Paediatric journals | 807 | ||
| Internal medicine journals | 807 | ||
| Other paediatric journals | 807 | ||
| Quick reference mnemonics | 808 | ||
| Chapter 5 | 808 | ||
| Behavioural and developmental paediatrics | 808 | ||
| Anorexia nervosa | 808 | ||
| ADHD | 808 | ||
| Index | 851 | ||
| A | 851 | ||
| B | 855 | ||
| C | 857 | ||
| D | 862 | ||
| E | 864 | ||
| F | 867 | ||
| G | 868 | ||
| H | 869 | ||
| I | 873 | ||
| J | 875 | ||
| K | 876 | ||
| L | 876 | ||
| M | 877 | ||
| N | 880 | ||
| O | 882 | ||
| P | 883 | ||
| Q | 886 | ||
| R | 886 | ||
| S | 888 | ||
| T | 892 | ||
| U | 895 | ||
| V | 896 | ||
| W | 897 | ||
| X | 897 | ||
| Y | 897 | ||
| Z | 897 |