The Science of Paediatrics_ MRCPCH Mastercourse

779 Diuretics for heart failure, 354t for hypertension, 382t Diving reflex, 106–107 Dizygotic twins, 164, 165f DKA. see Diabetic ketoacidosis (DKA) DMARDs. see Disease-modifying antirheumatic drugs (DMARDs) DMD. see Duchenne muscular dystrophy (DMD) DMT1 receptor, iron and, 444 DNA. see Deoxyribonucleic acid (DNA) Dobutamine, for heart failure, 354t DOCK8 deficiency, 288t Doll’s head manoeuvre, 602 Domestic violence, developmental and emotional consequences of, 469b Domperidone, 272 Dopamine, 564 for heart failure, 354t Dopamine receptor antagonists, for gastro-oesophageal reflux disease, 69 Dornase alfa (DNAse), 338 Dot diagrams, 725, 725f Double effect, 667, 667b doctrine of, 674–675 Double-blind, placebo-controlled food challenge (DBPCFC), 303 Downbeat nystagmus, 603 Down’s syndrome (trisomy 21), 65–66, 142f, 143b, 145, 145b, 145t, 528t behavioural problems in, 466b hearing impairment and, 615 leukaemia in, 426 Dravet syndrome, 74 DRIs. see Dietary Reference Intakes (DRIs) Driver diagram, 764, 765f Drooling, 70 Drowning, 106–107 Drug(s) adherence to, 631b liver disease induced by, 415 maternal, affecting fetus, 168b, 170, 170t recreational, 634–635, 636t Drug clearance, 688–689 Drug disposition, disease and, 694, 694b Drug-drug interactions, 693 Drug excretion, 693–694 Drug-food interactions, 690 Drug hypersensitivity, 315–316, 315t Drug interactions, 696 Drug metabolism, 692–693, 692b, 692f altered, 695 effect of age on, 692–693 impaired, 695 pathways of, 693t Drug ototoxicity, 617–618 Drug toxicity, 694–696, 694b DRVs. see Dietary Reference Values (DRVs) DSD. see Disorders of sexual development (DSD) Duchenne muscular dystrophy (DMD), 68–69, 152b Duct-dependent cardiac lesions, 348b Ductus arteriosus, clubbing in, 36 Ductus venosus Doppler, 164 Duodenal atresia, 254–255 Duplex kidney, 372b, 373f Duplication, chromosomal, 142 partial, 146 Duplication cysts, 257 Duplication defects, as limb defects, 523 Dynamic scanning (99mTc-DTPA/MAG3), in urinary tract, 374 Dysdiadochokinesia, 42 Dysmetria, 42 Dysplasia, definition of, 165 Dyspnoea, 663–665, 663b, 665b assessment of, 664 causes of, 664f management of, 664–665 non-pharmacological approaches to, 664 pharmacological treatment of, 664–665 Dystonia, 63 Dystrophic epidermolysis bullosa, 492 Dystrophin, 68–69 E EAR. see Estimated average requirement (EAR) Ear anatomy of, 609–610 embryology of, 612–613 external, 609, 610f abnormalities of, 610b anomalies of, 613b embryology of, 613 inner, 610, 610f development of, 613f embryology of, 612–613 middle, 609–610, 610f abnormalities of, 610b embryology of, 613 structure and function of, 611–612 Early neonatal death, 582b Early phase response, in hypersensitivity reactions, 299 Eating disorders, 472–473, 473b 4Ps framework for, 473t EBM. see Evidence-based medicine (EBM) Eccrine glands, 485 ECG. see Electrocardiogram (ECG) Echinocandins, in antifungal therapy, 283 Echocardiography, 361 ECMO. see Extracorporeal membrane oxygenation (ECMO) Ectodermal dysplasia, 485 Eczema, 310–311, 492 Eczema herpeticum, treatment of, 749b Education, Health and Care Plan (EHCP), 62 Educational neglect, 133 Edwards syndrome (trisomy 18), 145, 528t EEG. see Electroencephalogram (EEG) Effectiveness, quality care and, 758 Efficacy, measurements of, 749, 749t–750t Efficiency, quality care and, 758 Electrical energy, converting sound into, 611–612 Electrocardiogram (ECG), 356–359 basics of, 356 components of, 356–359, 357f P wave, 357 PR interval, 357 Q waves, 357 QRS complexes, 357–358 QT interval, 358 R wave progression, 358, 358f ST segment, 358 T wave, 358 T wave axis, 357 U wave, 358–359 Electroencephalogram (EEG), 560b– 561b, 561 activation procedures in, 561 Electrolytes, 97, 206–209 balance, 208, 208t homeostasis of, 374–377 Electromyography, 562 Electronic media, children’s mental health and, 467 Electroretinogram, 562 Embden-Meyerhof pathway, in red cell metabolism, 442–443, 443f Embryogenesis, 167, 167t Embryonic stem cells, liver from, 420b Emergencies, paediatric, 79–100 Emergency Triage, Assessment and Treatment (ETAT) training course, 649 Emesis, induced, for poisoning, 111 Emollients, 489 Emotional abuse, 134–135 key indicators of, 134 Emotional development, 464–465 domestic violence in, 469b Emotional problems management of, 474–477 consistency in, 475 e-therapies in, 477 family therapy in, 476, 476b individual psychological therapy in, 476–477, 476b parenting in, 475–476 patience in, 475–476 positivity in, 475 responsivity in, 475 social/environmental, 474–475 structure in, 475 systemic intervention in, 476 pathways to, 469–473, 469t Enalapril, for heart failure, 354t Encephalitis, organisms associated with, 290t

780Index Encephalopathy(ies) acute non-traumatic, 94–95 infection treatment in, 95 resuscitation and stabilization of, 95 seizure control in, 95 bilirubin, 197–198 hypoxic-ischaemic, 210–214, 211b see also Hypoxic-ischaemic encephalopathy metabolic epileptic, 582b–583b neonatal, causes of, 211b neurointensive care for, 95 End-diastolic volume, increasing of, 350–351 Endocarditis, infective, in children, 362 Endochondrial ossification, 521 Endocrine axis, 499–500 Endocrine causes, of neonatal hepatitis, 409 Endocrine disorders impact on gastrointestinal tract, 274 short stature and, 222–223, 223b–224b Endocrine regulation of growth, 217–218, 218f of puberty, 225–226 Endocrinology, 499–519 End of life ethics at, 666–667, 666b practical therapeutics at, 668, 669b Endolymph, 612 Endoscopy, gastrointestinal, 271 Endothelial dysfunction, 564 Endotracheal intubation, in basic and advanced life support, 81–82, 81b–82b, 82f Energy intake, recommendations in infant and children, 239 Enterochromaffin-like cells, 259 Enterohepatic circulation, 199 Enzyme replacement therapy, 585 Enzymes phase 1, 692 phase 2, 692 Enzymes cyclo-oxygenase-1 (COX-1) and COX-2, 539f Eosinophilic diseases, 262–263 Eosinophilic oesophagitis, 262–263, 307 EPI. see Expanded programme of immunization (EPI) Epicutaneous route, in food allergy, 307b Epidemiological data, interpretation of, 15–17, 16b bias and, 16 chance occurrence, 15 confounding and, 16–17 Epidemiological studies, 13–14 disease frequency, measures of, 13–14 incidence and prevalence, interrelationship between, 14, 15f risk, 14, 14b–15b types of, 15, 15f Epidemiology definition of, 9 public health and, 9–25 uses of, 10b Epidermis anatomy of, 483–484, 484f development of, 479–481, 480f Epidermolysis bullosa, 482b, 492, 492b, 665b Epidermolytic hyperkeratosis, 491t Epigenetics, and child abuse, 121 Epigenome, 121 Epilepsy, 566–569 clinical practice of, 570b non-pharmacological treatment of, 569 pharmacological treatment of, 567–569, 567t, 568b E-portfolio, 753 Equity, quality care and, 758 Ergotamine, 565 Erosion, 488t Errors, 731 type 1, 731, 731b type 2, 731, 731b Erythema multiforme, 497 Erythema nodosum, 497–498 Erythrocyte sedimentation rate (ESR), 535 Erythroid/ megakaryocytic lineage, 441 ESR. see Erythrocyte sedimentation rate (ESR) Estimated average requirement (EAR), 238 ETAT training course. see Emergency Triage, Assessment and Treatment (ETAT) training course E-therapies, in emotional and behavioural problem management, 477 Ethics, 673–685 of care, 675 definition of, 673 at end of life, 666–667, 666b feminist, 675 issues in genetics, 155–156 paediatric, 673 research, 683–684 textbooks, 673 virtue, 675 see also Medical ethics Ethosuximide, 568 Ethylene glycol poisoning, 115, 115b, 115f Eukaryotes, 280 European Clinical Trials Database (EudraCT number), 715b European Working Time Directive, 760 Evidence, research, synthesis of, 4 Evidence-based medicine (EBM), 739, 740f altruistic reasons for, 740 applicability of, 751 benefits and harms of, 752–753 ‘current best evidence’ in, 743–744 levels of, 743–744 definition of, 739–741 five steps of, 741–753, 741t acquiring information/evidence, 742–746 applying of patient in, 751–753, 752t appraising information in, 745t, 746–751, 747b asking question, 741–742 assessing performance in, 753 GRADE in, 744–746, 746t recommendations in, 745 guidelines in, 755 importance of, 749 misconceptions of, 739, 740b personal reasons for practising, 740 practising, 740, 754–755 searching, 746b sources of, 755b Evidence-based paediatrics, 739–755 Evidence-based presentations, 754 Ewing’s sarcoma, 430, 440b Excisional biopsy, 489b Excoriation, 488t Exercise, children’s mental health and, 467 Exomphalos, 255 Expanded programme of immunization (EPI), for Tomoka’s health, 647–648, 648f, 649b Experimental medicine (EM), 705–706, 721–722 Experimental studies, 15 Expressed donor milk, 183 for preterm infants, 244–245 External ear, 609, 610f abnormalities of, 610b anomalies of, 613b embryology of, 613 External genitalia female abnormalities of, 401–402, 401b development of, 393 male abnormalities of, 398–401, 398b development of, 395 Extracorporeal membrane oxygenation (ECMO), for respiratory failure, 89, 89b Extradural haematomas, 102–103 Extrapulmonary (right-to-left) shunts, 194 Extravascular haemolysis, 447–448 Extremely preterm infant, 676b–677b guidelines for providing intensive care in, 678b see also Preterm infants Eye applied anatomy of, 591–593 applied embryology of, 589–591 congenital and developmental conditions, 594b, 595–597 childhood cataract, 595 childhood glaucoma, 595–596 congenital cataract, 595

781 management of childhood cataract, 595 retinal dystrophies, 597 retinal pathology due to nonaccident head injury, 596–597, 596f developed, 591–592, 592f development of, 589, 590f abnormal, 590–591 innervation of, 600–601, 601f laws of, 600 motility of, 600–601 movement of, supra-nuclear control of, 602 normal refractive state of, 599 pharmacology and, 605–606 drugs used for diagnosis, 605–606 prematurity and, 593–595 F Fabricated or induced illness, 135 Facial pain, headache and, 566 Factor IX deficiency, 455b Faecal elastase, 269 ‘False belief test’, 465 Familial adenomatous polyposis (FAP), 156 Familial Mediterranean fever, 541t Familial neurohypophyseal diabetes insipidus, 512b Familial retinoblastoma, 426 Family therapy, in emotional and behavioural problem management, 476, 476b Fanconi anaemia, 453b–454b, 454t gene therapy in, 454b Fanconi syndrome, 366–368 FAP. see Familial adenomatous polyposis (FAP); Functional abdominal pain (FAP) FASD. see Fetal alcohol spectrum disorder (FASD) Fat, absorption of, in small intestine, 260–261 Fatigue chronic, 473–474, 474t in chronic pain syndromes, 634 Fatty acid metabolism, 581–582 biochemistry of, 581 disorders of, 582t clinical presentation of, 581–582 diagnosis of, 582 Fatty acid oxidation, 581f Fatty liver disease, non-alcoholic, 418 Feasibility of clinical research, 710, 712b–713b, 714f in evidence-based medicine, 753 Febrile neutropenia, 434t Feeding, 206–209 artificial or formula, 209 infants, 239–242 guidelines for, evidence-based, 239–242, 240t UK recommendations in, 240–242 preterm infants, 243–245 expressed donor milk for, 244–245 formulas for, 245 human milk for, 244 human milk fortifiers for, 245 parenteral nutrition for, 243–244 recommendations for, 245, 245b problems, complex, 470–471 4Ps framework for, 471t requirements, 207, 207t Feet position, 530–531, 530t Female genital mutilation (FGM), 137 Feminist ethics, 675 Femoral neck, persistent anteversion of, 530 Ferritin, 444 Fetal alcohol spectrum disorder (FASD), 171, 171f, 171t short stature and, 221 Fetal blood sampling, 162f Fetal circulation, 174–176, 174b, 175f Fetal endoscopic tracheal occlusion (FETO), 162 Fetal growth, poor, relationship in health in adult life, 3 Fetal haemoglobin (HbF), 175–176, 194–195 Fetal medicine, 161, 162f Fetal surgery, 161–162 Fetal toxicity, 696 FETO. see Fetal endoscopic tracheal occlusion (FETO) α-fetoprotein (AFP), 418 Fetoscopic laser therapy, 162, 162f Fever, 34–35, 290 value of, in clinical assessment, 34–35 FFP. see Fresh frozen plasma (FFP) FGM. see Female genital mutilation (FGM) Filaggrin gene (FLG), 493 polymorphisms, 301 FISH. see Fluorescence in situ hybridization (FISH) FLAIR. see Fluid attenuated inversion recovery (FLAIR) Fluid, homeostasis of, 374–377, 374f Fluid attenuated inversion recovery (FLAIR), 558 Fluid balance, neonatal, factors affecting, 207 Fluid distribution, neonatal, 206–207, 207f Fluid management, 95–97 Fluid refractory shock, 92 inotropes for, 92t Fluid (feed) requirements, neonatal, 207, 207t Fluid resuscitation, 649b Fluid therapy maintenance, 96–97, 96t rehydration, 97 Fluorescein, 605 Fluorescence in situ hybridization (FISH), 143–144 Fluorodeoxyglucose, 560 FOE. see Fractional oxygen extraction (FOE) Folic acid for sickle cell disease, 453 supplementation of, in pregnancy, 160 Fomepizole, 115 Food allergy, 302–308, 303f, 307b diagnosis of, 306b, 306f IgE-mediated, 303–305, 305f management of, 305–307 non-IgE-mediated, 307–308 prognosis of, 305–307 Food protein-induced enterocolitis syndrome (FPIES), 307–308, 308b Forbidden actions, in deontology, 674 Forced expiratory braking, 323 Forced expiratory flow (FEF25-75), 325 Formal operations stage, of cognitive development, 464 Formula of the end in itself, 674 Formula of the universal law, 674 Formulas amino acid, 247 partially and extensively hydrolysed, 247 for preterm infants, 245 soya protein, 247–248 for special situations, 246–248, 247b for term infants, 246–248, 246b, 247t Fortifiers, human milk, for preterm infants, 245 4Ps framework, 469t for behavioural sleep problems, 470t for complex feeding problems, 471t for disruptive behaviour, 472t Fovea, of retina, 592–593 FPIES. see Food protein-induced enterocolitis syndrome (FPIES) Fractional oxygen extraction (FOE), 194 Fractures, physical abuse and, 128–130, 128b, 128t, 130b, 130f femoral, 129 humeral, 129 imaging of, 129–130 metaphyseal, 129 patterns of, 129 skull, 130 Fragile X syndrome, 152 Fragmented red cells, haemolysis and, 448 Framing questions, in evidence-based medicine, 741–742, 741b Frank-Starling law, in preload, 350 Free fatty acids, 500 Frequency distributions, 726–727, 727f Fresh frozen plasma (FFP), transfusion of, 460 From neurons to neighborhoods, 466 Full blood count, 535 Functional abdominal pain (FAP), 474 Fundamental (or basic) research, 704–705, 705f Fundus, methods of visualizing, 593

782Index Fungi, 280 Fused kidney, 372b, 373f G G cells, 259 G6PD deficiency. see Glucose-6- phosphate dehydrogenase (G6PD) deficiency GABA. see Gamma-aminobutyric acid (GABA) Gain-of-function mutations, 147 Gait development of, 530, 530t examination of, 557b Galactosaemia, 411b–412b, 586 Gall bladder, 404 functions of, 260 GALT. see Gut-associated lymphoid tissue (GALT) Gamma-aminobutyric acid (GABA), 64, 568–569 Gamma-glutamyl transferase (GGT), 406 Gap junctions, in cardiac conduction, 353–354 Gas dilution, 327, 327f Gas exchange, 321–322, 322t assessment of, 196 in mechanical ventilation, 88 Gastric lavage, 111 Gastric motility, 258–259, 258f Gastric secretions, 259 Gastritis, 263 Gastroenteritis antibiotics or probiotics for, 266 causes of, 265, 265t management of, 265–266 oral rehydration for, 261, 261f, 265–266 organisms associated with, 290t pathophysiology of, 265 refeeding following, 266 Gastroenterology, 253–275 Gastrointestinal system, examination of, 39–41, 39b Gastrointestinal tract abnormalities, arising from abnormal embryological development, 254–257 cellular function in, 262–263 components of, functions of, 258–262 development of, 167–168 disease in genetic and environmental factors in, 263–264 liver and, 419 embryology and anatomy of, 253–254, 254f histopathology of, 262–263 homeostasis and, 264–267 investigations of, 268–271, 268b normal function of, 257–258 pharmacology of, 271–273 secretions, 257 system disorders impact on, 273–275 acute illness/trauma, 274–275 endocrine, 274 immune system, 273–274 respiratory system, 274 Gastro-oesophageal reflux disease, 69, 263, 318b acid-reducing medications for, 271–272 feed thickeners for, 271 H2-receptor antagonists for, 271 prokinetic agents for, 272 proton pump inhibitors for, 271–272 Gastropathy, traumatic, 274–275 Gastroschisis, 255 GAVI (Global Alliance for Vaccines and Immunization), 643 GBS. see Streptococcus, group B (GBS) GeneChip Project, 409b Genes, structure and function of, 147 Genetic disorders autosomal dominant, 148–150, 149b, 149f autosomal recessive, 150–151, 150f, 150t, 151b prenatal care and, 161 X-linked dominant, 152 X-linked recessive, 151–152, 151f Genetic mutation classes of, 147 in pituitary development, 217, 218b Genetic polymorphisms, in spina bifida, 545 Genetic testing, 147–148 conventional techniques for, 147–148 for mitochondrial disorders, 153 Genetics, 141–156 cancer and, 430 ethical issues in, 155–156 functional abdominal pain and, 474 mental health and, 466, 466b of metabolic disease/disorders, 583 of musculoskeletal disorders, 528–529 Genitalia development of female, 393 genetic aspects of, 391 male, 394–395, 394f disorders of, 391–402 embryology of, 391–395, 392f examination of, sexual abuse and, 132 see also External genitalia; Internal genitalia Gentamicin, 691 Germ cell tumours, gonadal, incidence of, 423 GFR. see Glomerular filtration rate (GFR) GGT. see Gamma-glutamyl transferase (GGT) GH. see Growth hormone (GH) Gilbert’s syndrome, 200–201, 417b Gitelman syndrome, 368–369 GJB2 gene, 615 Glanzmann thrombasthenia, 458 Glaucoma childhood, 595–596 drugs used for, 606 primary congenital, 596 secondary, 596 Global developmental impairment, 72 ‘Global’ peroxisomal disorders, 66 Global Polio Eradication Initiative, 648 Glomerular filtration rate (GFR), 207, 373 Glomerulonephritis acute, 384 causes of, 384b anti-neutrophil cytoplasmic antibody (ANCA)-associated, 385 membranoproliferative (mesangiocapillary), 385 post-infectious, 384 Glucocorticoid deficiency, 517 Gluconeogenesis, 576t Glucose biochemistry of, 576–577 homeostasis, 205–206 metabolism of, 576–578, 577f definitions in relation to, 576t Glucose-6-phosphate dehydrogenase (G6PD) deficiency, 200, 442–443, 446b–447b, 449, 449t Glucuronidation, paracetamol and, 415 Glutamate receptors, medications acting at, 569 Glycerol, 500 Glycogen biochemistry of, 578 metabolism, 576–578, 577f definitions in relation to, 576t Glycogen storage disorder I (GSD-I), 578 Glycogen storage disorder V (GSD-V), 578, 578b Glycogen storage disorders (GSDs), 578 classification of, 578t Glycogenesis, 576t, 578 Glycogenolysis, 576t, 578 Glycolysis, 576t Glycopeptides, therapeutic drug monitoring for, 691, 691b GMFCS scale. see Gross Motor Function Classification System (GMFCS) scale Goitre, 508b Gonadal dysgenesis, 398 Gonadal germ cell tumours, incidence of, 423 Gonadogenesis, hormonal control of, 394b Gonadotrophin-independent precocious puberty, 228 Good Childhood Index, 13 Gower’s sign, 557 GPCRs. see G-protein coupled receptors (GPCRs)

783 G-protein coupled receptors (GPCRs), 499 GRADE system. see Grading of Recommendation, Assessment, Development, and Evaluation (GRADE) system Grading of Recommendation, Assessment, Development, and Evaluation (GRADE) system, 744–746 Graft-versus-host disease, in gastrointestinal tract, 274 Grammar, 52 Gram-negative bacteria, 279, 279t Gram-positive bacteria, 279, 279t Granulocyte/macrophage lineage, 441 Granulomatous disease, chronic, in gastrointestinal tract, 273–274 Grasp reflex, 46 Graves’ disease, 172, 508, 509b Gravitational sedimentation, 335 Great vessels, of heart, 342 ‘Greatest happiness principle’, 674 Grief, 669–671, 669b models of, 670b Griffiths Mental Development Scales, 54 Gross Motor Function Classification System (GMFCS) scale, 63 Grotthuss mechanism, 85 Groups (statistics) looking at relationships between, 734–735 testing differences between, 732–734, 733b Growth, 217–231 body composition and, 233–236 change in neurology with, 46–47 constitutional advance, 224 constitutionally delayed, 220 endocrine regulation of, 217–218, 218f faltering, nutrient requirements for, 250 impaired/disorders, 220–223 examination of, 219–220 history of, 218–219 investigations of, 220 monitoring, 233–234 normal, 217–220 physiology of, 218, 219f Growth hormone (GH), 217, 218f bile and, 409 deficiency of, 222–223 Growth restriction fetus in, monitoring of, 163 intrauterine, 162–164 patterns of, 163 Grunting, 323 GSDs. see Glycogen storage disorders (GSDs) Guedel airway, 81 Guillain-Barré syndrome, 67 Guinea-worm disease, 655 Gut microbiome, 263 Gut-associated lymphoid tissue (GALT), 262 H H2-receptor antagonists, for gastrooesophageal reflux disease, 69 HAART. see Highly active antiretroviral therapy (HAART) Haematological disease, liver and, 419 Haematology, 441–461 Haematoma extradural, 102–103 subdural, 102–103 Haematopoiesis definitive, 441 development of, 441 disorders of, 444–455 physiology of, 441–444, 442f primitive, 441 Haematopoietic stem cells (HSCs), 441 Haematuria, 382–385 causes of, 382b Haemochromatosis, neonatal, 411 Haemodynamics, of patent ductus arteriosus, 184 Haemoglobin, 442 developmental changes in, 442t Haemoglobinopathies, 450 diagnosis of, 452t Haemolysis, 447–448, 447b, 447t Haemolytic disease of newborn (HDN), 200–201, 460b Haemolytic transfusion reaction, 460–461 Haemolytic uraemic syndrome (HUS), 388 Haemophilia A, 456–457 Haemophilia B, 456–457 Haemorrhagic disease, of newborn, 457 Haemosiderin, 444 Haemostasis, 455–459, 455f Hair, 485 clipping, 488 disorders, 486t Hair shaft anomalies, 486t Half-life, 689–690, 689b, 690f Hallucinogens, 636t Harlequin ichthyosis, 491t Harm definition of, 676, 760 higher risk of, 760–761 measurement of, 760 HbF. see Fetal haemoglobin (HbF) HbSC disease, 452 HCAIs. see Healthcare-associated infections (HCAIs) HDN. see Haemolytic disease of newborn (HDN) Head and neck, development of, 168 Head injury, 102–103 management of, 103, 103b mild, 103 non-accidental, retinal pathology due to, 596–597, 596f outcomes of, 103 primary, 102–103, 102t secondary, 103 severe brain injury, 103 Head tilt/chin lift manoeuvre, 81 Headache, 562, 563f international classification of, 563t secondary, 565–566, 566t HEADSSS psychosocial screening tool, 629, 629t Health, surveillance of, 19–20 Health needs assessment, 19–20, 21b undertaking of, 20 Health professionals, role of, and maltreatment, 138 Health Research Authority (HRA), 684 Health services for children, 761 major quality issues facing, 758 youth-friendly, 638–639, 639b Healthcare improvement of, 761–764, 762b– 763b, 763f, 764t, 765f, 766b quality in concept of, 757 problems facing children, 759 variation in, 758b Healthcare professionals child-centred care and, 761 ethics and, 673 Healthcare service provision, variations in, 759–760 in choice of care interventions, 759 in delivery of effective care, 759–760 services design, 759 Healthcare-associated infections (HCAIs), 291 Healthy Child Programme, 20b, 58–59 Hearing, 49–50, 609–626 in children with special needs, 71–72 disorders/impairment, 612b neonatal, 616b loss, 615b, 619b assessment of, 620–621, 622f at birth, 614b consequences and measurement of, 619–623 environmental causes of, 616–618 functional consequences of, 619–620 genetic causes of, 614–616 investigation of, 619, 619f neonatal causes of, 617–618 non-syndromic, 615 screening, 20b, 25b, 621–623 syndromes in, 614t treatment of, 624–626 process of, 611–612 Heart anatomy of, 341–343, 342f embryology of, 343–347, 343b, 344f–345f innervation of, 350f Heart block, 360 Heart disease aetiology of, genetic and environmental factors in, 348, 348t–349t congenital, embryology and, 343–347, 345b–348b

784Index Heart failure, 351–353, 351b causes of, 352t chronic, pathophysiology of, 352–353 compensatory changes in, 353, 353f treatment of, 353b, 354t Heart murmurs, 38f innocent, 38–39, 39t pathological, 37–38, 37t, 39t Heart rate, 33, 33f, 349–350, 350f, 350t Heart sounds, abnormal, 37–38, 38f Hedonist, 674 Height-for-age, malnutrition and, 651 Height velocity, 219, 219f Helminthiasis, 655 Helminths, 280 infections, associated with malnutrition, 650–651 Henderson-Hasselbalch equation, 85 limitation of, 85 Henoch-Schönlein purpura, 498 Hepatic congestion, 419 Hepatitis autoimmune, 414 immunization for, 415t neonatal, endocrine causes of, 409 viral, 415, 415b, 416t Hepatitis A, 415, 416t Hepatitis B, 415, 416t Hepatitis C, 415, 415b, 416t Hepatitis E, 415, 416t Hepatobiliary system, embryology of, 403–404 Hepatoblastoma, 418 Hepatocellular carcinoma, 418 Hepatology, 403–420 Hepatomegaly, 39 Hepatorenal syndrome, 413 Hepcidin, 444, 444f Hereditary angioedema, 310, 310b Hereditary motor and sensory neuropathy (HMSN) type 1a, 67 Hereditary spherocytosis, 448b–449b Hering’s law, 600 Hermaphroditism, true, 398 Hernia(s) congenital diaphragmatic, 192–193 inguinal, 399, 399f, 400b Herpes simplex virus infection, neonatal, 205 Herpesviruses, pharmacology for, 282 HFOV. see High frequency oscillatory ventilation (HFOV) Hiccough, 665 HIDS. see Hyperimmunoglobulin D syndrome (HIDS) Hierarchical searches, evidence and, 742–743, 743f, 744t–745t High frequency oscillatory ventilation (HFOV), 88 Highly active antiretroviral therapy (HAART), for HIV, 646 High-performance liquid chromatography (HPLC) for β-thalassaemia diagnosis, 451b–452b, 452t for haemoglobinopathies diagnosis, 452t HINARI, 746b Hip developmental dysplasia of, 523 subluxation and dislocation of, 71 Hirschsprung’s disease, 257 History-taking, 27–43 anatomy of, 29–31, 30f family and social history in, 31 general enquiry and systems review in, 30, 30f, 30t past medical history in, 30–31 presenting problem in, 30 settings for, 28t HIV-1, pharmacology for, 282 Homeostasis gut role in, 264–267 liver and, 406 Homovanillic acid (HVA), as tumour marker, 428 Horizontal gaze, 602 centre, 602 Hormonal compensatory changes, in heart failure, 352–353 Hormones, regulation of, 499–500 Horner pupil, 606 Host defence mechanisms, 283–285 HPLC. see High-performance liquid chromatography (HPLC) HSCs. see Haematopoietic stem cells (HSCs) β-human chorionic gonadotrophin (β-HCG), as tumour marker, 428 Human immunodeficiency virus (HIV), 287–289, 645–646, 645b proviral polymerase chain reaction (PCR) for, in infants, 645 transmission of, mother-to-child, 645b Human milk, for preterm infants, 244 Human milk fortifiers, for preterm infants, 245 HUS. see Haemolytic uraemic syndrome (HUS) Hydrocephalus communicating, 551 non-communicating, 551 Hydrocortisone, for congenital adrenal hyperplasia (CAH), 396–397 Hydrogen breath tests, 268 Hydrogen peroxide, 506–507 Hydronephrosis, 371 Hydroxycarbamide, for sickle cell disease, 453 11β-Hydroxylase deficiency, 397 21-Hydroxylase deficiency, 396 11β-Hydroxysteroid dehydrogenase, 499–500 5-Hydroxytryptamine (5-HT) receptor, 564 Hygiene hypothesis, 301 Hymen, imperforate, 401 Hyperammonaemia, 574–575 differential diagnosis of, 575t presentation of, 575 Hyperbilirubinaemia causes of, 199b conjugated, 407 hearing loss and, 617 Hypercalcaemia, 514 Hyperchloraemic acidosis, 85 Hyperglycaemia, 501–503 diseases of blood glucose regulation and, 502–503 examination for, 501 history of, 501 investigations for, 501–502 Hyper-IgE syndrome-type 1, 288t Hyperimmunoglobulin D syndrome (HIDS), 541t Hyperinsulinism, congenital, 505, 506b Hyperkalaemia, 375–376 causes of, 376t treatment of, 376b–377b Hyperkalaemic periodic paralysis, 527b–528b Hypermetropia, 599 Hypernatraemia, 375 in infant, 207b Hypernatraemic dehydration, 96–97 Hyperoxaemia, 83–84 Hyperparathyroidism, 514 Hyperpigmentation, post-inflammatory, 496 Hypersensitivity reactions, allergy and, 297–299, 298f–299f, 298t drug for, 315–316, 315t Hypertension, 378–382 children with, first-line investigations in, 381b management of, 380–381, 382t pulmonary. see Pulmonary hypertension severe acute, 381–382 Hyperthermia, 34 Hyperthyroidism, 508–509 with cardiac involvement, 364t gastrointestinal manifestations of, 274 maternal, 172 Hypertonic saline infusion test, 511 Hyperventilation, 85 EEG recording and, 561 Hyperviscosity syndrome, 434t, 435b Hypoalbuminaemia, acute liver failure and, 413 Hypoaldosteronism, 518 Hypocalcaemia, 513, 514b–515b Hypoglycaemia, 205–206, 504–505, 576t, 577 associated with reduced glucose availability, 505 causes of, 206t diagnostic guide for, 577f due to increased glucose consumption, 505 examination for, 504 history of, 504 investigations for, 504–505 persistent or symptomatic, 206 tests for, 577t treatment for, 505

785 Hypogonadism, primary, 230–231 Hypokalaemia, 376–377 causes of, 376t Hypoketotic hypoglycaemia, 581 Hypomelanosis of Ito, 479–480 Hyponatraemia, 375 acute liver failure and, 413 Hyponatraemic dehydration, 96–97 Hypoparathyroidism, 514 Hypospadias, 399–400, 400f Hypotension, acute liver failure and, 413 Hypothermia, therapeutic, 84, 711b, 716b, 749t–750t Hypothyroidism acquired, 508 with cardiac involvement, 364t congenital, 508, 508b as growth failure cause, 223 maternal, 172 Hypotonia, central, 65–66, 65b Hypotrichosis, congenital, 486t Hypovolaemia, 99 Hypoxia clubbing and, 36 neonatal, physiology of, 177, 178f oxygen supplementation and, 322t Hypoxic-ischaemic encephalopathy, 210–214, 211b amplitude modulated EEG (aEEG) for, 212–213 cerebral function monitor for, 212–213 clinical assessment of, 212–213 cranial ultrasound for, 213 fetal responses to, 211 magnetic resonance imaging, 213 mechanisms of brain injury in, 211 supportive treatment for, 213 therapeutic hypothermia and, 213–214, 711b, 716b TOBY trial, 716b, 749t–750t I Ichthyoses, 490, 491t Ichthyosis vulgaris, 491t ICP. see Intracranial pressure (ICP) Idiopathic intracranial hypertension (IIH), 565–566 Idiopathic scoliosis, 524 IFALD. see Intestinal failure-associated liver disease (IFALD) IgA deficiency, 286t, 289b selective, gastrointestinal tract and, 273 IgA nephropathy, 384–385 IgE-mediated food allergy, 303–305, 303f, 304b, 305f diagnosis of, 303–305 features of, 308t IIH. see Idiopathic intracranial hypertension (IIH) ILD. see Interstitial lung disease (ILD) ILVEN. see Inflammatory linear verrucous epidermal naevus (ILVEN) Imaging biomarkers, 705b in fetal medicine, 162f IMCI. see Integrated management of childhood illness (IMCI) Immune mediated disease, maternal, 172–173, 172b Immune response, steroids and, 414 Immune system, 277–295 adaptive, 284–285 development and maturation of, 285–289 disorders in, impact on gastrointestinal tract, 273–274 effector phase of, 285 innate, 283–284, 284t structure of, 283, 284f Immune thrombocytopenic purpura (ITP), 458b treatment of, 459b Immunization active, 292, 648f childhood, evolution of, 293t ethical issues, 678–679 passive, 292 principles of, 292–294, 294b successful, of population, 293, 293t Immunodeficiency disorders, 285–289 Immunoglobulin, intravenous for bleeding disorders, 458 for jaundice, 202 Immunopharmacology treatment, for inflammatory musculoskeletal disorders, 538–539, 538b–539b Impaired drug metabolism, 695 Imperforate hymen, 401 Imprinting disorders, 153–155 causes of, 153–154, 154f testing for, 154 Inborn errors of metabolism, 586t Incidence, 13 and prevalence, interrelationship between, 14, 15f Incisional biopsy, 489b Incomitant squints, 601 Incontinentia pigmenti, 479–480 Indium-111 white blood cell scans, of gastrointestinal tract, 270–271 Inertial impaction, 335 Infant-directed speech, 52 Infantile acne, 494 Infantile haemangioma, 482, 482b, 482f Infantile nystagmus, 603 Infantile spasms, 560 Infants acute liver failure in, 409–411 dehydration in, 95 energy intake in, recommendations for, 239 feeding, 239–242 guidelines for, evidence-based, 239–242, 240t UK recommendations in, 240–242 large-for-gestational-age, 164 mortality rate of, 10–11 by age and sex, 629t neurological examination of, 553, 553b nutrient requirements for, 237–239, 237f, 238t perinatal hypoxia effect on, 177–178 screening for, 24 small-for-gestational-age, nutrient requirements for, 249 ventilated, monitoring of, 196–197 Infections, 277–295 cancer from, 425–426 of central nervous system, 290–291 of childhood, 289–292 central nervous system, 290–291 host response to, 289–290 classification of, 277–280 congenital, 173–174 of liver, 409 features of, 277–280 host response to, 289–290 neonatal, 202–205 early-onset of, 203–204 herpes simplex virus, 205 late-onset of, 204–205 organisms associated with, 290t in preterm infants, 184–185, 184b, 185f in respiratory system, 329–331, 329b chronic, 332–334 skin, 494–495, 495b Infective endocarditis, in children, 362 Inferior vena cava (IVC), formation of, 346–347 Inflammation, 698 Inflammatory bowel disease, 262 dietary therapy for, 273 drugs for, 272–273, 273b genetic/environmental interaction in, 263 liver disease and, 419 Inflammatory diseases, CNS, 552 Inflammatory linear verrucous epidermal naevus (ILVEN), 481b Inflammatory states, in respiratory system, 331–332 Inflammometry, in exhaled nitric oxide, 338–339 Influenza, pharmacology for, 282 Information bias, 16 Information needs, meeting of, 740–741 Information sharing, in clinical trial, 712–714 Inguinal hernias, 399, 399f, 400b Inhalation injury, 106 carbon monoxide poisoning in, 106 Inhaled medications, principles of, 334–335 Innate immune system, 283–284 Inner ear, 610, 610f development of, 613f embryology of, 612–613 Innervation, of eye, 600–601 laws of, 600 Inotropes, for shock, 92, 92t Inotropic factors, in heart rate, 350t

786Index Insect venom, allergy and, 316 Insertion, chromosomal, 142 Inside-out development, of central nervous system, 543–544 Institute of Medicine, six dimensions to quality care, 758 Insulin aspart, 502 Insulin detemir, 502 Insulin glargine, 502 Insulin injections, for type 1 diabetes, 502 Insulin lispro, 502 Insulin-like growth factors, 217–218 Integrated management of childhood illness (IMCI), 649–650, 650f Intention to treat analysis, for bias reduction, 749 Interim analyses, in clinical trial, 718, 718b Interim guidelines, 718 Internal genitalia, female abnormalities of, 402 development of, 393, 393f International child health programmes, 643 role of, 643 Interquartile range, 728 Interstitial lung disease (ILD), 332 Intervention studies, 15 Intestinal failure-associated liver disease (IFALD), 419 Intestine, absorption and secretions, 260 In-toeing, 530 Intracranial pressure (ICP) monitoring, for encephalopathy, 93 raised, 434t Intrauterine growth restriction, 162–164 Intrauterine infections, 617b hearing loss and, 616 Intrauterine shunting, 162 Intravascular haemolysis, 447 Intravascular thrombosis, in sepsis, 99 Intravascular volume, 374b–375b Intravenous edrophonium (Tensilon) testing, 68 Intravenous lipid emulsion therapy, 112 Intussusception, 257 Invasive prenatal testing, 161 Inversion, chromosomal, 142 INVOLVE, 7 Ion channels, 547 IPEX (immune dysfunction, polyendocrinopathy, enteropathy, X-linked), 274 IREs. see Iron response elements (IREs) Iris coloboma, 591f Iron, 411 absorption of, 444, 444f metabolism of, 443–444 poisoning, 115–116, 115b Iron regulatory proteins (IRPs), 444 Iron response elements (IREs), 444 IRPs. see Iron regulatory proteins (IRPs) Irritable bowel syndrome, variant of childhood, 267 Islets of Langerhans, 500, 500f ITP. see Immune thrombocytopenic purpura (ITP) Ivacaftor, 338 IVC. see Inferior vena cava (IVC) J James Lind Library, 7 Jarman Index, 18 Jaundice, 39 conjugated neonatal, 408 neonatal, 197–202, 197b clinical assessment of, 201 exchange transfusion for, 202 from G6PD deficiency, 449 hearing loss, 617 investigations for, 201 monitoring for, 201, 201b pathogenesis of, 199 pharmacological treatment of, 202 phototherapy for, 202 physiological, 199–200 sulphonamides, 2b treatment for, 201–202 Jaw thrust manoeuvre, 81 Jerger classification, 623f Jervell syndrome, 614t JIA. see Juvenile idiopathic arthritis (JIA) Job syndrome, 288t Joint defects, 524 formation, 522, 522f infection in, organisms associated with, 290t problems, 526 swelling, 534b Jugular venous pulse, 39 Junctional epidermolysis bullosa, 492 Justice, 676, 740 Juvenile dermatomyositis, 527b Juvenile idiopathic arthritis (JIA), investigations of suspected, 537b–538b K K+ gradient, in cardiac conduction, 354 Kallmann syndrome, 48 Kant, Immanuel, 674 Kaplan-Meier curves, 736 Kartagener syndrome, 338b Karyotyping, 142 Kasai portoenterostomy, 408 Kawasaki disease, in children, 362 Keratinocytes, 483–484 Ketogenic diet, 569, 586–587 Ketone synthesis, 581–582 biochemistry of, 581 Ketosis chronic, 569 insulin deficiency and, 502–503 Kidney anatomy of, 365–366, 367f–368f anomalies of congenital, 371t developmental, 372b, 373f embryology of, 370f functions of, 366f physiology of, 365–366, 369f Klinefelter’s syndrome (47, XXY), 146, 528t Koilonychia, 486t Krebs cycle, 578–580, 579f biochemistry of, 579–580 Kwashiorkor, 651b L LABAs. see Long-acting β2 receptor agonists (LABAs) Labial adhesions, 401 Labour, before onset of, cause of death, 11 Lacosamide, 568 β-Lactams, 315, 316f, 701 Lactase, in food allergy, 302–303 Lactate blood levels of, 194 raised, causes of, 572t Lactic acidosis, 572, 572t Lactulose, 272 Lamellar ichthyosis, 491t Lamotrigine, 568 Landau-Kleffner syndrome, 73 Lange-Nielsen syndrome, 614t Langerhans cells, 484 Lanugo, 485 Laplace’s law preload and, 351, 351f respiratory distress syndrome and, 181, 182f Large-for-gestational-age infants (LGA), 164 Laryngeal mask airway, 81, 81f Laser therapy, as skin treatment, 490 Late phase response, in hypersensitivity reactions, 299 Laxatives, stimulant, for constipation, 70, 272 Lay language, in research ethics, 684 LCI. see Lung clearance index (LCI) Lead poisoning, 116–117, 116b, 117f Lean six sigma methodology, 762b Learning disability, 72 Leg alignment, 530–531, 530t pains and poor growth, 533b Legg-Calvé-Perthes, 524 Leukocyte adhesion deficiency type 1, 288t Leukodystrophy, 73 Leukotriene receptor antagonist (LTRA), 336 Levetiracetam, 569 Lichenification, 488t Li-Fraumeni syndrome, 426 Limb defects, 523 environmental causes of, 523–524 amniotic tissue/constricted uterus, 523–524 drug teratogens, 523 Limb dysplasia, 523

787 Limping child, 531–534, 531t–532t normal blood tests and, 533b Line diagrams, 725, 726f Lisinopril, for heart failure, 354t Listeria infection, in pregnancy, 160 Live attenuated vaccines, 292 Liver, 403 anatomy of, 404, 405f bilirubin conjugation in, 199 biochemical tests for, 406, 406b blood supply of, 404 development of, 403–404, 404f–405f from embryonic stem cells, 420b functions of, 260, 406, 406t genetic diseases affecting, 410t radiology of, 406–407 transplant, timing of, 418–419 tumours of, 418 venous drainage of, 404 Liver cells, bilirubin uptake by, 199 Liver cirrhosis, ascites in, 40 Liver disease autoimmune, 414 cardiac disease and, 419 chronic, clinical manifestations and complications of, 413–414 cystic fibrosis-associated, 417 drug-induced, 415 gastrointestinal disease and, 419 haematological disease and, 419 liver transplant for, timing of, 418–419 mitochondria and, 412 neonatal, 407–409 in older child, 413–418 as part of multi-system disease, 419–420 renal disease and, 419 veno-occlusive disease and, 419–420 logMAR (logarithmic minimal angle of resolution), 48 Logrank test, 736 Long QT syndrome (LQTS), 361, 361t Long-acting β2 receptor agonists (LABAs), 336 Long-lasting insecticide-treated bed nets, for malaria prevention, 644 Loop diuretics, 617 Lorazepam, 569 Loss-of-function mutations, 147 Loudness, frequency and, 620f Low-birth-weight baby, 652b Lower limb examination, 556b–557b LQTS. see Long QT syndrome (LQTS) LTRA. see Leukotriene receptor antagonist (LTRA) Lumbar puncture, 204 Lumps, in groin, infants with, 393b–394b Lung anatomy of, 319 capacities of, 321, 322f development of, phases of, 317, 318f Lung clearance index (LCI), 327–328 Lunula, 485 Lupus anticoagulant, 457–458 Lymph nodes, examination of, 41, 41b, 41f Lymphoma, incidence of, 423 Lysosomal storage disorders, 586t classification of, 585t M Macrolides, 702 Macrophages, suppression of, steroids in, 414 Macrosomia, 164 Macule, 488t Magnesium, 564 Magnesium sulphate, for threatened preterm delivery, 180 Magnetic resonance angiography (MRA), 560 Magnetic resonance imaging (MRI) cranial, 558, 558b–560b functional, 560b of gastrointestinal tract, 270 for medulloblastoma, 438, 438f musculoskeletal, 537 overview of appearances of, 558t Magnetic resonance spectroscopy (MRS), 560 Magnitude of effect, in power calculation, 711 Malaria, 292, 644 Malignancy, hearing loss and, 618 Malignant tumour, 421 Malnutrition, 650–652, 651f–652f Malrotation, midgut, 256, 256b, 256f Maltreatment child with suspicion or allegation of, assessment of, 124–126 consent in, 124 diagnosis/opinion in, 125–126 documentation of, 125 examination in, 125 general approach to, 124 history-taking in, 124 investigations in, 125 management and communication in, 126 timescales in, 124 in England, 119–121, 120f prevalence of, and relationship with medical conditions, 122, 122t recently recognized issues in, 135–138 adolescence, 135 bullying in, 136–137 female genital mutilation in, 137 self-harm in, 136 sexual exploitation, 137, 137b unaccompanied asylum seekers in, 138 recognition and response in difficulty in, 122 importance of, 121–122 resilience in, 124 risk in, 123, 123t vulnerability, 123–124, 123f, 124t worldwide, 119 Mann-Whitney U test, 734 Manometric studies, for gastrointestinal tract, 270 Marble bone disease, 525 Marfan’s syndrome, 149, 224, 528b with cardiac involvement, 364t Masking, 749 Maternal diseases, 172–173 Maternal love, 122 Maternal red blood cell alloimmunization, 172 Maternal substance misuse, as teratogens, 171 Maturity-onset diabetes of the young (MODY), 503 Mayer-Rokitansky syndrome, 401 May-Hegglin anomaly, 458 MCAD deficiency, 583 McCune-Albright syndrome, 228, 499 MCH. see Mean cell haemoglobin (MCH) M-CHAT™. see Modified Checklist for Autism in Toddlers (M-CHAT™) MCRN. see Medicines for Children Research Networks (MCRN) MCUG. see Micturating cystourethrogram (MCUG) MCV. see Mean cell volume (MCV) Mean, 727–728, 733 Mean cell haemoglobin (MCH), anaemia and, 445t Mean cell volume (MCV), anaemia and, 445t Measles, 647 Measuring National Well-being programme, 12, 12b Mebeverine, 272 Mechanical ventilation, 85–89 gas exchange in, 88 principles of, 195–196, 195b for shock, 92 Mechanoreceptors, 50 Meckel’s diverticulum, 255–256, 255f Meconium aspiration syndrome, 191, 191b Meconium ileus, 257 Meconium-stained amniotic fluid, 191, 191b MECP2 duplication syndrome, 73 Medial tibial torsion, 530 Median, 727–728, 728f Medical ethics definition of, 673 four principles of, 675–676 Medical neglect, 133 Medical research, 704 abuse of human subjects for, 683 Medication errors, 697, 697b–698b, 697t Medications commonly used, 697–702 with teratogenic effects, avoiding, 160 Medicines for Children Research Networks (MCRN), 684 Medicines for Human Use (Clinical Trials) Regulations 2004 (SI 2004/1031), 684

788Index Medulloblastomas, 438f Megakaryocytes, and clubbing, 36 Melanin, 591 Melanocytes, 479, 484 Melanosomes, 495–496 Melatonin, 71 Membranoproliferative (mesangiocapillary) glomerulonephritis, 385 Meningitis, 291b, 551–552 diagnosis of, 552t hearing loss and, 618, 618b organisms associated with, 290t Meningococcal septicaemia, 380b Mental health, child and adolescent, 463–478, 655 determinants of, 465–469 attachment as, 467–468 cellular mechanisms as, 468–469 environmental influences as, 466 genetic influences as, 466, 466b neurological level as, 468 psychological characteristics as, 468 social influences as, 466–467 involvement of paediatricians in, 463–464, 478b as predictor of adult life-satisfaction, 463 Mental health disorders, prevalence of, 463 6-Mercaptopurine, for inflammatory bowel disease, 273 Merkel cells, 484 ‘MeSH’, 742 Mesoderm, 521 Meta-analysis cumulative, 4, 4b as evidence synthesis tool, 4 Metabolic acidosis, 85, 85t, 571, 572t Metabolic diseases/disorders developmental regression and, 74 genetics of, 583 inherited, liver transplantation for, 419 investigation of suspected, 584–585, 584t modes of inheritance in, 583t newborn screening for, 583–584 pharmacological treatment of, principles of, 585, 585t Metabolic epileptic encephalopathy, 582b–583b Metabolic medicine, 571–587 Metalloporphyrins, for jaundice, 202 Metatarsus varus, 530 Metformin, 503 Methotrexate (MTX), 539 for inflammatory bowel disease, 273 Methylation, 121–122 defect, 154, 154f testing of, for imprinting disorders, 154 Methylenetetrahydrofolate reductase (MHTFR), 545 Methylphenidate, for ADHD, 75 Metoclopramide, 272 MHTFR. see Methylenetetrahydrofolate reductase (MHTFR) Microarray-CGH, for global developmental impairment, 73b Microbial chemical pathways, interruption of, 281 Microphthalmos, 590 Microvilli, 262 Micturating cystourethrogram (MCUG), in urinary tract, 374 Middle cerebral artery Doppler, 164 Middle ear, 609–610, 610f abnormalities of, 610b embryology of, 613 Midgut malrotation, 256, 256b, 256f Midline defects, 544 Migraine, 562–565 diagnosis of, International headache society criteria for, 564t pathophysiology of, 563–564 pharmacological therapy for, 565 prophylaxis of, 565 treatment of, 564–565 Miller blade, 82, 82f Milrinone, 92 for heart failure, 354t ‘Mind-mindedness’, 464 Mineralocorticoid abnormalities, 517–518 Minute volume, 321, 322f MIT. see Monoiodotyrosine (MIT) Mitochondria genetics, 583 liver disease and, 412 Mitochondrial disease testing, 585 Mitochondrial disorders, 152–153, 153f, 529, 580 clinical diagnosis of, 153 clinical features of, 153 clinical presentation of, 580, 580t developmental regression and, 74 diagnosis and management of, 580 genetic testing for, 153 Mitochondrial genome (mtDNA), 583 Mitochondrial respiratory chain, 578–580, 579f biochemistry, 580 Mixed gonadal dysgenesis, 398 Mixed hearing loss, 622f Mixed venous saturation, 194 Model for Improvement, 761–763, 763b, 763f Modified Checklist for Autism in Toddlers (M-CHAT™), 54 MODY. see Maturity-onset diabetes of the young (MODY) Monoamine neurotransmitter disorders, 552 Monoclonal antibodies, for inflammatory bowel disease, 273 Monoiodotyrosine (MIT), 506–507 Mononuclear phagocytic system (MPS), 40 Monozygotic twins, 164, 166f Monro-Kellie doctrine, 93, 93f Moral development, 464–465 Moral theories, 673–675 practical application of, 673 Morality, 674 Morbidity, data on, collection of, 11b Moro reflex, 46 Morphine analgesia, 661f, 662–665, 667 common fears and myths in, 662b metabolism of, 699–700 Morphoea, 498 Mortality in adolescence, 629b, 629t child, major causes of, 641–642, 642f data on, collection of, 11b under five year, 12 see also Death Mosaicism, 144, 149 ‘Motherese’, 52 Mother-to-child transmission (PMTCT) interventions, prevention of, in HIV, 645, 645b Motility gastrointestinal, 258 agents affecting, 272 studies, 269–270 ocular, 600–601 Motor development, and developmental problems, 62 Motor neuron lesions lower, 42 upper, 42, 42t developmental problems and, 63–65, 63b Motor system, examination of, 42 Moulds, 280 Mourning, 669–671, 669b Mouth, functions of, 258 Movicol, 272 MPS. see Mononuclear phagocytic system (MPS) MRA. see Magnetic resonance angiography (MRA) MRI. see Magnetic resonance imaging (MRI) MRS. see Magnetic resonance spectroscopy (MRS) mTor inhibitors, 483b MTX. see Methotrexate (MTX) Mucolysis, for cystic fibrosis (CF), 338 Mucopolysaccharidoses, 529 Mucous neck cells, 259 ‘MUDPILES’ mnemonic, for elevation of anion gap metabolic acidosis, 110 Multicentre Growth Reference Study, 233–234 Multi-channel intraluminal impedance, in motility studies, 269–270 Multicystic dysplastic kidneys, 372b, 373f Multiple births, 164, 164b, 165f Multiple comparisons procedures, 733 Multiple kidneys, 372b Multiple sclerosis (MS), 559

789 Muscles histology and physiology of, 526–527, 526f problems in, 68–69 Muscular dystrophy, with cardiac involvement, 364t Muscular ventricular septal defect, 346b Musculoskeletal disorders, 521–541 clinical assessment of, 531 common chromosomal conditions with, 528t congenital, 522–524, 522b genetics of, 528–529 investigations of, 535–537, 535b in clinical practice, 537 inflammatory markers, 535–536 laboratory, 535–537 radiological examination of, 537 single gene with, 529t treatment of inflammatory conditions, 538–540 immunopharmacology, 538–539 understanding applied science in, 531–534 Musculoskeletal system embryology of, 521–522 endochondrial ossification, 521 joint formation, 522, 522f primary ossification, 522 skeletal muscle, 522 examination of, 41–42 normal development, 530–531 gait development, 530, 530t leg alignment and feet position, 530–531, 530t skeletal development and pathology of, 524–527 Mutation, genetic classes of, 147 in pituitary development, 217, 218b Myasthenia, 68 MYCN gene, 430 Mycobacterial disease, Mendelian susceptibility to, 288t Myelin, 73 Myocardial dysfunction, in sepsis, 99 Myocarditis, in children, 363 Myopia, 599 Myotonic dystrophy, 150 with cardiac involvement, 364t congenital, 68 N NAC. see N-acetylcysteine (NAC) N-acetylcysteine (NAC), 113–114 N-acetyl-p-benzoquinoneimine (NAPQI), 113, 415 Naevoid hypopigmentation, 479–480 Naevus epidermal, 479–480, 480b, 481f sebaceous, 481b, 481f, 486t NAFLD. see Non-alcoholic fatty liver disease (NAFLD) NAHR. see Nasal airway hyperresponsiveness (NAHR) Nail anatomy of, 485 clipping of, 488 systemic diseases and, 486t Nail plate, 485 Na+ /K± ATPase, in tubular disorders, 366–370 NAPQI. see N-acetyl-pbenzoquinoneimine (NAPQI) Narcotic misuse, in pregnancy, 171, 171t Narrow complex tachycardia, 359–360, 359f NAS. see Neonatal abstinence syndrome (NAS) Nasal airway hyper-responsiveness (NAHR), 313–314 Nasal portion, of airway, 318–319 Nasopharyngeal airway adjunct, 81 Nasopharynx, 610 National Institute for Health and Care Excellence (NICE), on head injury, 103, 103b National Institute for Health Research, 7 National Service Framework for Children, 761 Nausea, 662–663, 662b–663b Nebulization, 335, 335f Necrotizing enterocolitis, 185–186, 185f Negative desires, 675 Negative predictive value (NPV), in population screening, 22–23, 22b Neglect, 133–134, 133b in children’s well-being, 468 clinical features of, 133–134 dental, 133 educational, 133 medical, 133 nutritional, 133, 134b, 134f physical, 133 types of, 126 Neglected tropical diseases (NTDs), 655, 655b Nematodes, 280 Neonatal abstinence syndrome (NAS), 171 Neonatal acne, 494 Neonatal and Infant Close Monitoring chart (NICM), 233 Neonatal care, centralized tertiary, advantages and disadvantages of, 179, 180b Neonatal health, 652–654 Neonatal medicine, 179–215 central nervous system in, 209–214 fluid, electrolytes, feeding, and nutrition in, 206–209 glucose homeostasis and hypoglycaemia in, 205–206 infection in, 202–205 jaundice in, 197–202 preterm infant in, 179–189, 180t preterm infant, ethical issues, 676–677, 678b respiratory system in, 189–197 seizures in, 214–215, 214t Neonatal period, liver disease in, 407–409 Neonates death of, 653 neurological examination of, 553, 553b Nephroblastoma, 438b–439b Nephrocalcinosis, 386b Nephrolithiasis, 386b Nephrology, 365–389 Nephrons, 365–366, 368f transport sites across, 369f Nephropathic cystinosis, Fanconi syndrome and, 366–368 Nephrotic syndrome, 382–384 acute management of, 383–384 definition of, 383t proteinuria in, 382–383 Nerve conduction studies, in neurophysiological investigations, 562 Nervous system anatomy and physiology of, 550–552 cerebrospinal fluid, 550–552 history and examination of, 552–553 imaging of, 558–562 Neural tube defects, 544–545 spina bifida and, 545 Neuroblastoma, assessment of, 425b Neurocutaneous syndromes, 482, 483t Neurodisability, children with, medical issues common to, 69–71 Neurofibromatosis, 483t type 1 (NF1), 149, 426 Neurohypophysis, 509 Neurointensive care, 93f for encephalopathies, 95 Neurological disease, acquired nystagmus due to, 603–604 Neurological examination, of older children, 553 Neurological system, examination of, 42 Neurology, 543–570 change in, with growth, 46–47 Neuromuscular disorders, 66–69 Neuromuscular junction, problems in, 67–68 Neuronal plasticity, 548–549, 548f, 549b Neurons, 545 Neuropathy, auditory, 618 Neurophysin, 510 Neurophysiological investigations, 561 electroencephalogram, 561, 561b electromyography of, 562 electroretinogram, 562 nerve conduction studies of, 562 visual evoked potentials, 562 Neurophysiology, peripheral, 561–562 Neurotransmitter disorders, CSF, 552 Neutropenia, severe congenital, 288t Neutropenic enterocolitis, 434t Neutrophils, suppression of, steroids in, 414 New Zealand Cot Death Study, 9

790Index Newborn dying of, 653–654, 654t haemorrhagic disease of, 457 hearing test, 24, 25b screening for, 24 for metabolic disease/disorders, 583–584 Newborn Hearing Screening Programme, 49 national, 621 Newborn infant, respiratory distress syndrome. see Respiratory distress syndrome, neonatal Next generation sequencing, 148, 148f NF1. see Neurofibromatosis, type 1 (NF1) NICE. see National Institute for Health and Care Excellence (NICE) NICM. see Neonatal and Infant Close Monitoring chart (NICM) Niemann-Pick disease, 410t Nissen’s fundoplication, 69 Nitric oxide, 564 exhaled, measurement of, 338–339, 338b, 339t inhaled, for respiratory failure, 88–89 Nitroprusside, for heart failure, 354t NNT. see Number needed to treat (NNT) Nociceptors, 50 Nodule, 488t Nominal data, 724 Non-alcoholic fatty liver disease (NAFLD), 418 Non-allergic food hypersensitivity, 302–303, 303f Non-disjunction, 144 Non-Hodgkin’s lymphoma, diagnosis of, 436b, 436f Non-IgE-mediated food allergy, 303f, 307–308, 308t Non-immunized child, 678b–679b Non-invasive prenatal testing, 161, 162f Non-maleficence, 676, 740 Non-pacemaker action potential, 354–355, 354f Non-parametric tests, 727, 733–734, 734t Non-steroidal anti-inflammatory drugs (NSAIDs), 539, 698 Noonan’s syndrome, 619 short stature and, 221 Noradrenaline, 89–90 Normality, tests of, 727 Novel therapeutic targets, 705 NPV. see Negative predictive value (NPV) NSAIDs. see Non-steroidal antiinflammatory drugs (NSAIDs) NTDs. see Neglected tropical diseases (NTDs) Nuclear medicine, in urinary tract, 374 Nucleic synthesis, inhibitors of, 702 Nuffield Council of Bioethics guidelines, for extremely premature neonates, 676b–678b Null hypothesis, 710, 730–731 Number needed to treat (NNT), 750t Numerator, 10 as measure of disease frequency, 13 Numeric data, 723 Numerical abnormalities, chromosomal, 141, 142f Nutrient requirements for children, 237f, 238t for growth faltering, 250 for infants, 237–239, 237f, 238t for obesity, 249–250 for overweight, 249–250 for preterm infants, 242–245, 243t for sick children, 249–250 for small-for-gestational-age infants, 249 for toddlers, 249 for undernutrition, 250 Nutrition, 206–209, 233–251 brain development and, 469 physiological basis of, 237–239 of preterm infant, 183–184 scientific basis of, 236–237 Nutritional neglect, 133, 134b, 134f Nutritional programming, 236–237 Nystagmus, 603–604 acquired due to neurological disease, 603–604 vestibule, 604 descriptive terms used, 603 infantile, 603 pathological, 603–604 physiological, 603 O OAE. see Otoacoustic emission (OAE) Obesity childhood, health inequalities and, 18–19, 19b patterns of, 19t definition of, 249–250, 250f nutrient requirements for, 249–250 Obligatory actions, in deontology, 674 Observer bias, 16 Obsessive/compulsive behaviours, Down’s syndrome and, 466b OCA1(A), 496 OCA1(B), 496 Ocular albinism, 496 Ocular bobbing, 604 Ocular coherence tomography, 593 Ocular findings, abnormal, 600b Ocular inflammation, drugs used for, 606 Ocular misalignment, 49 Ocular toxicity, drugs causing, 606 Oculocutaneous (OCA) albinism, 496 Odds, 750t Odds ratio (OR), 750t Oedema, in children, 652 Oesophageal manometry, 270 Oesophagitis, 263 eosinophilic, 307 Oesophagus, functions of, 258 Office for National Statistics (ONS), 11 Measuring National Well-being programme and, 12, 12b Oligodendrocytes, 546 Omalizumab, 336–337 Omenn severe combined imunodeficiency, 287t Oncogenes, 423, 423f Oncology, 421–440 role of clinical trials in, 424–425 One-sample t-test, 733 ONS. see Office for National Statistics (ONS) Onycholysis, 485, 486t Onychomycosis, 485 Ophthalmic screening, paediatric conditions which require, 606–607 Ophthalmology, 589–607 Opioids, 661f, 662–665, 667, 698–700 constipation from, 665 mechanism of action of, 699, 699f, 700t Oppositional behaviour, Down’s syndrome and, 466b Oppositional defiant disorder, 76 Opsoclonus, 604 Opsoclonus-myoclonus-ataxia syndrome, 427, 427b Optic nerve hypoplasia, 591 Optics, 599–600 Optimism, emotional resilience and, 468 OR. see Odds ratio (OR) Oral rehydration solution (ORS), for diarrhoea, 261, 261f, 644 Orbit, cranial nerves supplying, 600t Ordinal data, 723 Organ donation, 682b–683b cadaveric, 682b–683b Organic acid disorders, 573b Organogenesis, primary defects of, 167–168 ORS. see Oral rehydration solution (ORS) Osmotic diarrhoea, 264–265 Osmotic laxatives, for constipation, 70, 272 Ossification endochondrial, 521 primary, 522 Osteochondroses, cause of, 524–525 Osteogenesis imperfecta, 525b Osteomalacia, 525 Osteopenia, of prematurity, 187–188 Osteopetrosis, 525 Osteoporosis primary, 525 secondary, 525 Osteosarcoma, 439f, 440b Otoacoustic emission (OAE), 49, 621 Ototoxicity, drug, 617–618, 617b Out-toeing, 530 Ovarian cystic lesions, 402 Overweight, nutrient requirements for, 249–250

791 Oxcarbazepine, 568 Oxygen in blood, 322 dissociation curve, 322, 323f in post-resuscitation care, 83–84 for respiratory failure, 86–87, 86b for shock, 92 saturation monitoring, 5b, 32, 32b, 32f, 718 saturation routine newborn screening, 745t Oxygenation of blood, 322 indices of, 195 positioning and, 321 P P wave, in electrocardiogram (ECG), 357 Pacemaker cells, 355–356, 355t site of, 355f Pachyonychia congenita, 485 Paediatric early warning scores (PEWS), 768b Paediatric investigation plan (PIP), 3, 715b Paediatric research studies, consent for, 684 Pain, 660–662, 660b assessment of, 660–661, 660b in chronic pain syndromes, 634 management of, 661–662 non-pharmacological measures of, 661 reversible causes of, 661 Pain ladder, 661–662, 661b, 661f Pain neuro-matrix, 634 Pain sensitivity, 474 Palliative care, 659b–660b, 671b Palliative medicine, 659–672 emergencies in, 666 philosophy of, 659–660, 659b Pancreas in blood glucose regulation, 500 functions of, 260 Pancreatic lipase, 260 Pancytopenia, 453b–454b Paneth cells, 262 Papilloedema, 566 Papule, 488t Paracetamol, 698 liver disease induced by, 415, 416b metabolism of, 113, 113f poisoning, 112–114, 113b–114b Paramedian pontine reticular formation (PPRF), 602 Parametric tests, 727 Paraneoplastic phenomena, 427 Parathyroid gland, 512–514 anatomy of, 512 diseases and disorders of, 514 embryology of, 512 history and examination of, 513–514 investigations for, 514 physiology of, 513, 513f Parathyroid hormone (PTH), 513 Paraxial mesoderm, 521 Parenchymal diseases, of respiratory system, 332 Parenteral nutrition, for preterm infants, 243–244 Parenting, in emotional and behavioural problem management, 475–476 Parents, research and, 7, 7b Parents’ Evaluation of Developmental Status (PEDS), 54 Parietal cells, 259 Parkland formula, 105 Paronychia, 485 Parvovirus B19, 174 Passive immunization, 292 Patau syndrome (trisomy 13), 145, 528t Patch, 488t Patent ductus arteriosus (PDA), 184 Patience, in emotional and behavioural problem management, 475–476 Patient(s) centeredness, quality care and, 758 research and, 7, 7b safety concepts of, quality improvement and, 758b definition of, 760 key challenges for, 760 quality care and, 758 PDA. see Patent ductus arteriosus (PDA) PDL. see Pulsed dye laser (PDL) PDSA cycle. see Plan Do Study Act (PDSA) cycle Peak expiratory flow rate (PEFR), 325 Pediculosis, 495 Pedigree autosomal dominant inheritance, 149f autosomal recessive inheritance, 150f construction of, 149b, 149f mitochondrial inheritance, 153f X-linked recessive inheritance, 151f PEDS. see Parents’ Evaluation of Developmental Status (PEDS) PEEP. see Positive end-expiratory pressure (PEEP) PEFR. see Peak expiratory flow rate (PEFR) Pelka, Daniel, 120, 120b–121b Pelvic kidney, 372b Pendred syndrome, 614, 614t Penicillin(s), 701 prophylaxis, for sickle cell disease, 453 Peppermint oil, 272 Perampanel, 569 Percentages, 733 Percutaneous absorption, 695 Perforation, traumatic, 275 Pericardium, anatomy of, 342–343 Perimembranous ventricular septal defect, 346b Perinatal alloimmune thrombocytopenia, 173 Perinatal care, centralized tertiary, advantages and disadvantages of, 179, 180b Perinatal hypoxia, effect on infant, 177–178 Perinatal medicine, 157–178 definitions and epidemiology in, 157–158, 158b, 158f, 158t Perinatal stroke, 214–215 Periodic alternating nystagmus, 603 Periodic fever syndromes, 540, 540b–541b, 541t Peripheral blood vessels, 342, 343f Peripheral nerve, problems with, 67 Peripheral neurophysiology, 561–562 Peripheral pulmonary arterial stenosis murmur, 38 Periventricular-intraventricular haemorrhage, 186–187, 186b–187b, 187f Permanent conductive hearing losses, 624–625, 625f Permissible actions, in deontology, 674 Peroxisomal disorders, 66 Persistent ductus arteriosus, 347 Persistent pulmonary hypertension of the newborn (PPHN), 191–192 Personal development/examinations, in evidence-based medicine, 740 Personal reasons, for practising evidence-based medicine, 740 Personality theory, in children’s mental health, 468 Personalized medicine, 721, 721b Perthes disease, 524 Pes cavus, 530–531 Peyer’s patches, 262 pGALS (paediatric gait, arms, legs, spine) assessment, 41 PGD. see Pre-implantation genetic diagnosis (PGD) pH definition of, 84–85 monitoring, 269 Phaeochromocytoma, 518 Pharmacodynamics, 281b Pharmacokinetics, 281b, 687–690 biomarkers, 705b Pharmacology, 687–702 antibiotics and, 280–283 antimicrobial, key concepts in, 280–282 definitions of, 281b Pharmacotherapy, for allergy, 312–313, 313f Pharmacovigilance, 715b Pharyngeal muscles, loss of control of, 319 Phenobarbitone, 568 for jaundice, 202 Phenoxymethylpenicillin (penicillin V), 701 Phenylketonuria, 583–584 Phenytoin, 568

792Index Philadelphia chromosome, 430 Phonology, 52 Phosphodiesterase III inhibitor, for heart failure, 354t Photic stimulation, EEG recording and, 561 Phototransduction cascade, 597 Physical abuse, 126–130 abusive head trauma in, 130 bite marks and, 127–128 bruising as, 126–127, 127b, 127f burns and scalds in, 128 fractures in, 128–130, 128b, 128t, 130b, 130f Physical development, integrating through neuroscience, during adolescence, 632, 632b, 632f Physical examination, of children, 31–35 determining ‘normality’ in physical signs, 33–35 pulse oximetry, 32, 32b, 32f system-based approach to, 35–42 ‘the first step forward is a step backwards’, 31–32 upside-down and outside-in approach to, 33 Physical mind, 473–474 Physical neglect, 133 Piaget, Jean, 50, 50b PICO questions, 741–742, 741b converting into searchable terms, 742, 742t PIDs. see Primary immunodeficiency disorders (PIDs) Pie charts, 724, 724f Pierre Robin sequence, 165 Pigmentation, disorders of, 495–496 Pilocarpine, 606 PIP. see Paediatric investigation plan (PIP) Pitting, nail, 486t Pituitary gland, embryology of, 217, 218b Pizotifen, 565 Placenta embryology of, 158–159, 159f function of, 158 physiology of, 158–159, 159f immunity, 159 metabolism and homeostasis, 159 transport, 158–159 Plan Do Study Act (PDSA) cycle, 763f Plaque, 488t Plasmodium falciparum, in malaria, 644 Platelet transfusion, for bleeding disorders, 458 Platelets, transfusion of, 460 Pleasure, hedonist and, 674 Plethysmography, whole body, 327, 328f Plicae circularis, 262 Pneumonia, 644 organisms associated with, 290t treatment, 747t Poisoning, 101–117, 109b aspirin, 114, 114b management of, 110–112 activated charcoal in, 110–111 antidotes for, 111t, 112 gastric lavage in, 111 induced emesis in, 111 intravenous lipid emulsion therapy in, 112 reduction of absorption and enhancement of elimination in, 110 urinary alkalinization in, 112 whole bowel irrigation in, 111–112 prevention of, 112 recognition and evaluation of poisoned child, 109b Policy level, healthcare, 759 Polio, 648 Polychromasia, haemolysis and, 448 Polycystic kidney disease, 387 autosomal dominant (ADPKD), 387 autosomal recessive (ARPKD), 387 Polycythemia, 36 Polydactyly, 523 Polydipsia, 386 Polyenes, in antifungal therapy, 282–283 Polymorphisms in eczema, 310 in paediatric allergy, 300 Polyuria, 386 POMC. see Proopiomelanocortin (POMC) Population at risk, 13 Population screening, 20–23 accuracy in, 23, 23t definition of, 20–21 importance of relationship between sensitivity, specificity, predictive values and prevalence, 23, 23t, 24b positive and negative predictive values in, 22–23, 22b sensitivity and specificity in, 22 terms, 21–22, 22b Port wine stains, 490 Portal hypertension, 413 Positioning, oxygenation and, 321 Positive end-expiratory pressure (PEEP), 88 Positive predictive value (PPV), in population screening, 22–23, 22b Positivity, in emotional and behavioural problem management, 475 Positron emission tomography, 560 Postaxial hand polydactyly, 523 Posterior fossa tumour, 437b–438b Posterior pituitary, 509–512 anatomy of, 509 diseases and disorders of, 511–512 embryology of, 509 examination of, 510 history of, 510 investigations for, 510–511 physiology of, 509–510 Post-inflammatory hyperpigmentation, 496 Potassium, serum, abnormalities of, 375–377, 376b Potter’s sequence, 165–166 Poverty, malnutrition and, 650–651 Power (statistics), 731 calculation, 710–711, 713b PPHN. see Persistent pulmonary hypertension of the newborn (PPHN) PPRF. see Paramedian pontine reticular formation (PPRF) PPV. see Positive predictive value (PPV) PR interval, in electrocardiogram (ECG), 357 Prader-Willi syndrome, 66, 154–155 Pragmatics, 53 Pre-clinical modelling, of clinical research, 710, 711b Predictive biomarkers, 705b–706b Predictive genetic testing, 155–156, 155b Prednisolone, oral, for viral-induced wheeze, 704b Pre-implantation genetic diagnosis (PGD), 162f Preliminary statistics, in clinical research, 710–711, 713b Preload, increasing of, 350–351, 351f Premature thelarche, 229 pREMS (paediatric regional examination of the musculoskeletal system), 42 Prenatal care, 160–162 Preoperational stage, of cognitive development, 464 Pre-pregnancy care, 160, 160b Prepuce, 400–401 Pre-screening Developmental Questionnaire (PDQ II), 54 Pressure control ventilation, 87, 87f Preterm delivery, threatened, management of, 180–181 Preterm infants, 179–189, 180t bronchopulmonary dysplasia in, 188 ethical issues, 676–677, 678b feeding, 243–245 expressed donor milk for, 244–245 formulas for, 245 human milk for, 244 human milk fortifiers for, 245 parenteral nutrition for, 243–244 recommendations for, 245, 245b infection on, 184–185, 184b, 185f necrotizing enterocolitis in, 185–186, 185f nutrient requirements for, 242–245, 243t nutrition of, 183–184 osteopenia in, 187–188 outcomes in, 188–189, 189f overview of, 181, 181t

793 patent ductus arteriosus in, 184 patterns of development in, 57–58 periventricular-intraventricular haemorrhage in, 186–187, 186b–187b, 187f periventricular leukomalacia, 187, 187b respiratory distress syndrome in, 181–183, 181b, 182f retinopathy in, 188 Prevalence, 13 and incidence, interrelationship between, 14, 15f Primary ciliary dyskinesias, 334, 334f Primary immunodeficiency disorders (PIDs), 285–286 child with suspected, 285–286 classification of, 285, 286t–288t management of, 286 Primary ossification, 522 Primary outcome measures, in clinical research, 710 Primitive reflexes, 46–47, 46b, 46t Probiotics, in allergic disease, 301 Prognostic biomarkers, 705b Progressive familial intrahepatic cholestasis, 410t Proopiomelanocortin (POMC), 515 Propionibacterium acnes, 494 Propofol, 696 Proportion(s), 10, 733 Proportionate review, in research ethics, 684 Propranolol, 565 Protein synthesis inhibition of, 281 inhibitors of, 701–702 Protein-displacing effect, on bilirubin, 695 Proteinuria, 382–385 causes of, 383b in nephrotic syndrome, 382–383 Proton-pump inhibitors, for gastrooesophageal reflux disease, 69 Proto-oncogenes, 423, 423f Protozoa, 280 Pruritus, 665 Pseudohypoaldosteronism, 517–518, 518b Pseudohypoparathyroidism, 514, 514b–515b Psoriasis, 493, 494b Psychological development, integrating through neuroscience, during adolescence, 632, 632b, 632f Psychological therapy, individual, in emotional and behavioural problem management, 476–477, 476b Psychopharmacology, for children’s mental health, 477 Psychosocial deprivation, short stature and, 222 PTA. see Pure tone audiometry (PTA) PTH. see Parathyroid hormone (PTH) Pubertal assessment, 630 Pubertal development, early, 228–229, 229b Pubertal timing, 632t Puberty, 217–231 constitutional advance, 224 constitutionally delayed, 220 delayed, 229–231, 231b centrally, 230 examination of, 230 history of, 229 investigations of, 230 management of, 230 primary hypogonadism and, 230–231 endocrine regulation of, 225–226 normal development of, 225–226 precocious, 226–229 androgen-mediated, 227–228 causes of, 228f examination of, 227 gonadotrophin-independent, 228 history of, 227 investigations of, 227 true central, 227 Tanner staging of, 226, 226f Public health, epidemiology and, 9–25 Public understanding, of research, 7, 7b Publication bias, 4 Public-private partnerships, role in child health programmes, 643 Pulmonary flow murmur, 38 of newborns, 38 Pulmonary function tests, 325–326, 325b Pulmonary hypertension, in children, 363, 364t treatment of, 364b Pulmonary hypoplasia, 194 Pulmonary surfactant, in respiratory distress syndrome, 182–183 Pulmonary tuberculosis, initial, 646 Pulse oximetry, 32, 32b, 32f, 195, 718, 745t Pulse oxygen saturation, 195 Pulsed dye laser (PDL), 490 Punch biopsy, 489b Pupil abnormalities, investigation of, 606 parasympathetic innervation of, 604 sympathetic innervation of, 604 Pupil light responses, 604 afferent pathway in, 604 efferent pathway in, 604 Pure tone audiometry (PTA), 623 Purkinje network, 356 Pursuit eye movements, voluntary, 602 Pustule, 488t p-values, 15, 730–731, 731b, 750t Pyloric stenosis, 259b Pyogenic arthritis, pyoderma, gangrenosum and acne (PAPA) syndrome, 541t Pyruvate dehydrogenase complex, biochemistry of, 579 Pyruvate kinase deficiency, 449–450 Q Q waves, in electrocardiogram (ECG), 357 QRS complexes, in electrocardiogram (ECG), 357–358 Q-switched lasers, 490 QT interval, in electrocardiogram (ECG), 358 Qualitative data, 723 Qualitative research, 707–708, 707b, 709b Qualitative study, 707b Quality care, Institute of Medicine six dimensions to, 758 Quality improvement, in healthcare, 757–769 measurement of, 764–766, 765b and patient safety concepts, 758b projects for, 767b, 769b Quantitative data, 723, 724f Quantitative fluorescent PCR (QF-PCR), 144 Quinolone, 702 R R wave progression, in electrocardiogram (ECG), 358, 358f Radiation, cancer from, 425 Radiological investigation, of gastrointestinal tract, 270–271 colonic transit studies, 271 contrast studies, 270 indium-111 white blood cell scans, 270–271 magnetic resonance imaging, 270 ultrasound scan, 270 Radiology for cancer, 428, 428t of liver, 406–407 Radiotherapy, for cancer, 432–433 Randomization, in clinical trial, 716–717, 716b Randomized controlled trials (RCTs), 716 in infant feeding, 239–240 Range, 728 Ranitidine, for gastro-oesophageal reflux disease, 271 Rape, 132–133 examination for, 132–133 Rate, 10 Rathke’s pouch, 217 Ratio, 10 RCPCH. see Royal College of Paediatrics and Child Health (RCPCH) RCTs. see Randomized controlled trials (RCTs) RDA. see Recommended daily allowance (RDA) Ready-to-use therapeutic foods (RUTFs), for malnutrition, 652 Recall bias, 16

794Index Receiver operating characteristic (ROC) curves, 735–736, 736f β2 receptor agonists long-acting, 336 short-acting, 335–336 Recessive dystrophic epidermolysis bullosa, 492 Recessive X-linked ichthyosis, 491t Reciprocal chromosome translocations, 144 Recommended daily allowance (RDA), 238 Recreational drugs, physiological effects of, during adolescence, 636t Rectal atresia, 168, 169f Red blood cells alloimmunization, maternal, 172 enzyme defects in, 449–450 lifespan of, 443 membrane of, 443 metabolism of, 442–443, 443f physiology of, 442–443 transfusion of, 460 Red cell antigens, 459–460, 460b Red cell aplasia, 445–446 Reduction defects, as limb defects, 523 Reflexes, primitive, 46–47, 46b, 46t Refraction, 605 Refractive error, 599 optics of eye with, 598f Refractive state, of eye, normal, 599 Refusal of participation, in clinical trial, 716 Regression, 734–735 to the mean, 730, 730b Regulatory approval, in clinical research, 711–712, 714t, 715b Rehydration fluid therapy, 97, 97b Relative risk (RR), as statistical term, 750t Relative risk reduction (RRR), 750t Relevance, evidence-based medicine and, 746, 747t Renal clearance, 688 Renal disease, liver and, 419 Renal dysfunction, consequences of, 366f Renal failure, 389 Renal function investigation of, 372–373 maturation of, 689, 693 Renal hypoplasia, 372b Renal transplantation, 389 Renal tubular acidosis (RTA), 369–370 Renal tubular disorders, 366–370 causes of, 366t Renin-angiotensin system, 90 Renin-angiotensin-aldosterone system, 381f Research acquiring skills for, 6–7, 6b–7b ethics, 683–684 evidence for, synthesis of, 4 involving healthy children, 3 involving vulnerable children, 3 knowledge gaps in, identification of, 4 in paediatrics, 1–8 importance of, 2 relevance of, 1–3, 2b parents, patients, and public in, 7, 7b see also Clinical research Research hypothesis, defining, 710, 712b Research question, 709 Research skills log, 6–7, 7b Residual volume (RV), 328 Resilience, adolescent medicine and, 629, 630b Resistance, antimicrobial, 282 Respiratory complications, in neurodisability, 69–70 Respiratory distress in newborn infant, 190, 190b, 190t with spinal muscular atrophy, 67 Respiratory distress syndrome fluid balance in, 207 neonatal, 190, 190t in preterm infant, 181–183, 181b, 182f diagnosis in, 183 management of, 183 prevention, 4b, 748b pulmonary surfactant in, 182–183 Respiratory failure, 85–86, 86b, 194–195, 194f supportive therapy in, 86–89 type 1, 86 type 2, 86 Respiratory signs, 322–325, 323b cough, 323–324 crackles, 324–325, 324f forced expiratory braking, 323 grunting, 323 normal breath sounds, 324–325, 324f rate, 33, 33f, 322–323 stridor, 324–325, 324f wheeze, 324–325, 324f Respiratory support, 85–89 Respiratory syncytial virus (RSV), 329 Respiratory system, 189–197 anatomy of, 318–319, 319f developmental anomalies in, 192–194 disorders of, impact on gastrointestinal tract, 274 embryology of, 317, 318f examination of, 35–37, 35b infections in, 329–331, 329b chronic, 332–334 inflammatory states, 331–332 investigations of, 325–328 medicine for, 317–339 anti IgE therapy and, 336–337 anticholinergics in, 336 corticosteroids in, 336, 337f in cystic fibrosis (CF), 337–338 inhaled medications in, 334–335, 335f leukotriene receptor antagonists (LTRA) and, 336 long-acting β2 receptor agonists (LABAs) and, 336 pharmacology of, in children, 334–338 short-acting β2 receptor agonists (SABAs) and, 335–336 theophyllines in, 337 in paediatrics, advances in, 338–339 parenchymal diseases of, 332 physiology of, 319–325 Response biomarkers, 705b Responsivity, in emotional and behavioural problem management, 475 Resuscitation acute, for acute non-traumatic encephalopathies, 95 care after, 83–84 duration of, 83 management after, and monitoring, 79–80 outcomes of, 84 Retcam, 592–593, 594f Retina structure of, 592–593 vascularization of, 593 Retinal dystrophies, 597 Retinal ganglion cells (RGCs), 592–593 Retinal pathology, due to non-accident head injury, 596–597, 596f Retinal pigment epithelium (RPE), 592 Retinoblastoma, familial, 426 Retinoblastoma tumour suppressor gene (RB1), 426 Retinoids, for acne, 494 Retinopathy, of prematurity, 188, 593–595 stages and zones in, 594f Rett syndrome, 73–74, 152 Reye’s syndrome, 2 RGCs. see Retinal ganglion cells (RGCs) Rh incompatibility, 200–201, 460b Rhabdomyosarcoma, assessment of, 425b RhD, 459–460 Rhesus D alloimmunization, 200 Rhesus haemolytic disease, 172, 460b Rhesus system, 459–460 Rheumatic disease, cytokine modulators in, 540t Rheumatic fever, in children, 362–363 Rheumatoid factors, 536 Rhinovirus, 329 Ribonucleic acid (RNA), 147 Rickets, 246b, 525 vitamin D deficiency, 534b Ring, chromosome, 142 Risk epidemiological studies and, 14, 14b–15b maltreatment and, 123 as statistical term, 750t Risk management, 760 Risk stratification, for cancer, 430 Risks ratio, as statistical term, 750t RNA. see Ribonucleic acid (RNA) Road traffic collisions (RTCs), 101 Robertsonian translocations, 144 in Down’s syndrome, 145t Robustness, 727

795 ROC curves. see Receiver operating characteristic (ROC) curves Rods, of retina, 592–593 Roll Back Malaria Partnership, 644 Rooting reflex, 46 Rotational testing, vestibular eye movements and, 602 Rotavirus vaccine, for diarrhoea, 644 Royal College of Paediatrics and Child Health (RCPCH), 759 RPE. see Retinal pigment epithelium (RPE) RR. see Relative risk (RR) RRR. see Relative risk reduction (RRR) RTA. see Renal tubular acidosis (RTA) RTCs. see Road traffic collisions (RTCs) Rubella, 173t, 174 congenital, maternal immunization for, 160 Rufinamide, 568 Run charts, for quality improvement projects, 766, 766b, 767f Russell-Silver syndrome, short stature and, 221 RUTFs. see Ready-to-use therapeutic foods (RUTFs) RV. see Residual volume (RV) S S β-thalassaemia, 452 SA node. see Sinu-atrial (SA) node SABAs. see Short-acting β2 receptor agonists (SABAs) Saccadic eye movements, voluntary, 602 SAEs. see Serious adverse events (SAEs) Safety monitoring, in clinical trial, 717 Salicylic acid, for acne, 494 ‘Sally-Anne test’, 465 Sanger sequencing, 147, 147f SARC. see Sexual abuse referral centre (SARC) Sarcomas, assessment of, 425b Scabies, 495 Scala media, 610 Scala tympani, 610 Scalds, 104–105 pathophysiology of, 104–105 in physical abuse, 128 risk factors, 104 Scales, 488t Scar, 488t Scatterplots, 725–726, 726f School feeding programmes, for malnutrition, 652 SCID. see Severe combined immunodeficiency (SCID) Science, in paediatrics relevance of, 1–2, 2b role of, 1–8 Science Media Centre, 7 Scientific evidence, fundamental, 710 Scleroderma, localized, 498 Scoliosis congenital, 524 idiopathic, 524 Screening, for prenatal care, 161 Screening, criteria, 25b Screening, for ophthalmic problems, 606 Screening, newborn biochemical, 583 Screening, newborn and infant and children, 24 Screening, newborn hearing, 25b, 621 SD. see Standard deviation (SD) SDR. see Selective dorsal rhizotomy (SDR) Search filters, 743 Searchable terms, converting PICO questions into, 742, 742t Sebaceous glands, 484 Secondary immunodeficiency, 286–289 Secondary outcome measures, in clinical research, 710 Secretory diarrhoea, 265 See-saw nystagmus, 603 Seizure(s) control of, in encephalopathies, 95 febrile, 752t neonatal, 214–215, 214t trial management of, 697b Selection bias, 16 Selective dorsal rhizotomy (SDR), 65 Self-harm, and maltreatment, 136 Self-preservation, in evidence-based medicine, 740 Semantics, 52 Sense of self, 465 Senses, in child development, 47–50 hearing, 49–50 smell, 47–48, 47b taste, 47 touch, 50 vision, 48–49, 48f, 48t Sensitivity, in population screening, 22 Sensorimotor stage, of cognitive development, 464 Sensorineural hearing loss, 622f, 625–626 Sepsis bacterial, systemic inflammatory response in, 98 GBS, neonatal, 203–204, 203t microvascular injury in, 98–99, 100b and increased vascular permeability, 99 intravascular thrombosis in, 99 myocardial dysfunction in, 99 vasoconstriction and vasodilation in, 99 pathophysiology of, 98–99, 98t Septic arthritis, 532–533, 532b Septicaemia, organisms associated with, 290t Sequence, in congenital abnormalities, 165–166 Sequestration, bronchopulmonary, 193 Serious adverse events (SAEs), in clinical trial, 717 Serotonin, 564 Serum ferritin, 535 Severe acute malnutrition, definition of, 651 Severe combined immunodeficiency (SCID), 273, 287t, 289b Severe congenital neutropenia, 288t Severe malnutrition, definition of, 651 Severe myoclonic epilepsy of infancy (SMEI), 74 Sex chromosome aneuploidies, 146 Sexual abuse, 131–133, 131b–132b incidence of, 131 investigations in, 131 presentation of, 131 allegation in, 131 emotional/behavioural changes in, 131 physical symptoms in, 131 psychosomatic, 131 rape and sexual assault in, 132–133 achieving best evidence interview in, 132 examination in, 132–133 Sexual abuse referral centre (SARC), 131 Sexual assault, 132–133 examination for, 132–133 Sexual exploitation, and maltreatment, 137, 137b Sexual health, in adolescence, 637–638, 637b Sexually transmitted infections, in UK, 637, 637b–638b ‘Shaken baby syndrome’, 130 Shamroth’s sign, 35 Shave biopsy, 489b Sherrington’s law of reciprocal innervation, 600 Shock cardiac and circulatory physiology of, 89–90 aldosterone, 90 antidiuretic hormone (ADH), 90 baroreceptors and chemoreceptors in, 90 hormonal/neural control in, 89–90 renin-angiotensin system in, 90 cardiac output in, 89 extracardiac mechanism, 89 intracardiac mechanism, 89, 89f causes of, 90t compensated, 91 definition of, 90–91, 91f and dehydration, 95–96 fluid refractory, 92, 92t irreversible, 91 management of, 91–93, 92t uncompensated, 91 Short stature, 220–223 chronic disease and, 222 endocrine disorders and, 222–223, 223b–224b psychosocial deprivation and, 222 syndromic, 221–222 fetal alcohol spectrum disorder in, 221 Noonan’s syndrome in, 221 Russell-Silver syndrome, 221 skeletal dysplasias, 221–222 Turner’s syndrome, 221

796Index Short-acting β2 receptor agonists (SABAs), 335–336 Shwachman-Diamond syndrome, 454, 454t SIADH. see Syndrome of inappropriate antidiuretic hormone secretion (SIADH) Sick children, recognition and treatment of, 649 Sickle cell anaemia, 452 with cardiac involvement, 364t Sickle cell disease, 452–453 diagnosis of, 452t liver disease and, 419 stroke prevention in, 453b Sickle-shaped cells, haemolysis and, 448 SIDS. see Sudden infant death syndrome (SIDS) Sight impairment, definitions of, 590b Significance level in power calculation, 711 of statistical test, 731 Single gene disorders, 146–147 Single gene mutation, in imprinting disorders, 154 Sinu-atrial (SA) node, 355b firing rate of, factors influencing, 355t Sinus tachycardia, supraventricular tachycardia (SVT) versus, 359t SIRS. see Systemic inflammatory response syndrome (SIRS) ‘Six grave violations’, 656 SJS. see Stevens-Johnson syndrome (SJS) Skeletal development, 524–527 Skeletal dysplasias, 525–526 short stature and, 221–222 Skeletal muscle, 522, 526f Skin anatomy of, 483–485, 484f clinical evaluation of, 487–488 examination in, 487–488 history in, 487 congenital disorders of, 490–492 embryogenesis of, 479–483, 480f dermal development in, 482 development of skin appendages in, 483 epidermal development in, 479–481, 480f infections in, 487b, 494–495, 495b organisms associated with, 290t inflammatory disorders of, 492–494 investigations for, 488–489 physiology of, 485 pigmentation of, disorders of, 495–496 premature, newborn and adult, features of, 487t scraping, 488, 488b symptoms in, 665–666, 665b systemic disease, manifestations of, 497–498 treatment antibiotics as, 489 antifungals as, 489 bath additives as, 489 calcineurin inhibitors as, 490 emollients as, 489 laser therapy for, 490 principles of, 489 soap substitutes as, 489 steroids as, 489–490 topical, 489 wet wraps and bandages for, 490 Skin appendages, development of, 483, 483b Skin biopsy, 489 Skin diseases/disorders allergic, 310–311 inflammatory, 486t Skin prick testing (SPT), 488–489 for allergic rhinitis, 314 in food allergy, 303, 304f Skin swab, 488, 488b Skull, fracture of, in physical abuse, 130 Sleep deprivation, EEG recording and, 561 desaturation during, 321b diaphragm and, 321 difficulties in, 70–71 mental health and, 467 Sleep disturbance, in chronic pain syndromes, 634 Sleep problems, behavioural, 470, 470b 4Ps framework for, 470t Slipped capital femoral epiphysis (SCFE), 524 SMA. see Spinal muscular atrophy (SMA) Small for gestational age, short staure and, 220–221 Small intestine, functions of, 260–261, 261b, 261f ‘Small test of change’, 761–763, 763b Small-for-gestational-age infants, nutrient requirements for, 249 SMEI. see Severe myoclonic epilepsy of infancy (SMEI) Smell, 47–48, 47b Smoking cancer from, 426 in pregnancy, 160 Snellen vision, 48 Soap substitutes, 489 Social care, abuse suspicion and, 138, 138f Social development, 464–465 Social relationships, in children’s well-being, 468 Socratic concept, in paediatric ethics, 673 Sodium, serum, abnormalities of, 375 Sodium valproate, 569 Soft tissue, infection in, organisms associated with, 290t Solute, absorption of, in small intestine, 261 Somites, 521 Sotos syndrome, 224 Sounds, frequency and, 620f Spasmus nutans, 603–604 Spasticity, 42, 63 drug management of, 64–65, 64f Specialist burns unit, referral to, 105b Specificity, in population screening, 22 Speech developmental disorders in, 71–72 and language, development of, 52–53, 52b Spherocytes, haemolysis and, 448 Spider naevi, 413 Spina bifida, 544–545, 545b surgical correction of, 162 Spina bifida cystica, 545 Spina bifida occulta, 545 Spinal cord compression, 434t injury to, 103–104 Spinal deformity, 71 Spinal muscular atrophy (SMA), 67 apnoea with, 679b–680b with respiratory distress, 67 type 1, ventilatory support in, 681b Spinal nerves, 552f Spinal tumours, incidence of, 423 Spine defects, 524 Spirometry, 325–326, 325b, 326f Spironolactone, for heart failure, 354t Spleen, 40 Splenomegaly, 39–40 causes of, 40t portal hypertension and, 413 Splinter haemorrhages, 486t Spondylolysis, 630 SPT. see Skin prick testing (SPT) Squints clinical investigation of, 601 concomitant, 601 incomitant, 601 management of, 601 SSEN. see Statement of Special Education Needs (SSEN) ST segment, in electrocardiogram (ECG), 358 Standard deviation (SD), 728 Standard error, 729–730, 729b Standard score, 728 Staphylococcal scalded skin syndrome, 495b Starling’s law of the capillary, 40 Statement of Special Education Needs (SSEN), 61 Static scanning (99mTc-DMSA), in urinary tract, 374 Statins, development of, 3b Statistical process control (SPC) charts, 766, 768b, 768f Statistical significance, clinical significance versus, 737 Statistical terms, 754b Statistical tests, 731–735, 732f appropriate application of, 737 in clinical trial, 719 Statistics, 723–737 in epidemiology, 735–736 presenting, to patients, 753 understanding limits of, 737

797 Steatosis, 418 Stenosis duodenal, 254–255 pyloric, 259b Stercobilin, 407b Steroids antenatal, 4b for preterm birth, 751b for threatened preterm delivery, 180 for bleeding disorders, 458 immune response and, 414 topical, 489–490 side effects of, 497 Stevens-Johnson syndrome (SJS), 497 Still’s (vibratory) murmur, 38 Stimulants central nervous system, 636t motility, 272 Stomach, functions of, 258–259, 258f Stool tests, 268–269, 269t Stopping rules, in clinical trial, 718, 718b STOP-TB Partnership, 647 Stratified medicine, 721, 721b Strawberry birthmarks, 482 Street children, 656, 656b causes of, 656 definition of, 656 Streptococcus, group B (GBS), neonatal early-onset infection of, 203–204, 203b, 203t late-onset infection of, 204–205 sepsis, 203–204, 203t Stress gastropathy, 274 Stridor, 324–325, 324f, 329–330, 330b, 330f Stroke, perinatal, 214–215 Structural abnormalities, chromosomal, 141–142, 142f Stubbornness, Down’s syndrome and, 466b ‘Student’s t-test’, 733, 734b Sturge-Weber syndrome, 483t Subdural haematomas, 102–103 Substance misuse, mental health and, 467 Substance use, 635b during adolescence, 634–635 Subunit vaccines, 292 Sucking reflex, 46 Sudden infant death syndrome (SIDS), 107–108, 108f multiple, 108, 108b prevention of, 2b, 9 Sudden unexpected death in infancy, 107–108, 107b Suicide, mental health and, 655 Sulfasalazine, 272–273 Sulfate conjugation, paracetamol and, 415 Sulphisoxazole, 695 Sulphonamides, 695, 702 introduction of, 2b Supererogatory actions, in deontology, 674 Superior vena cava (SVC) formation of, 346–347 obstruction of, 434t Supraclavicular bruit, 38 Supraventricular tachycardia (SVT), 359–360, 359f sinus tachycardia versus, 359t treatment of, 360 Sure Start Local Programmes, 51 Surgery, for cancer, 433 Survival analysis, 736, 736b, 736f SUSARs. see Suspected unexpected serious adverse reactions (SUSARs) Suspected unexpected serious adverse reactions (SUSARs), in clinical trial, 718 Sustainable Development Goals, 656 SVC. see Superior vena cava (SVC) SVT. see Supraventricular tachycardia (SVT) Sweat glands, 485 Sympathetic uveitis, 592 Sympathomimetics, 605 Symptomatic hypercalcaemia, 666 Synaptogenesis, 546–547 Syncope, in children, 362 Syndrome of inappropriate antidiuretic hormone secretion (SIADH), 96, 512 Syndromes, definition of, in congenital abnormalities, 166 Synovial fluid, 526 Synovial joint, formation of, 522f Syphilis, congenital, 174 Systematic review, as research evidence synthesis tool, 4 Systemic antibiotics, for measles, 647 Systemic diseases cardiac involvement in, 364, 364t skin manifestations of, 497–498 Systemic inflammatory response syndrome (SIRS), 98 acute liver failure and, 412–413 Systemic intervention, in emotional and behavioural problem management, 476 Systemic lupus erythematosus, maternal, 173 Systemic sclerosis, autoantibodies in, 537 T T cells, suppression of, steroids in, 414 T wave, in electrocardiogram (ECG), 358 T wave axis, in electrocardiogram (ECG), 357 T1 sequence, in magnetic resonance imaging, 558 T2 sequence, in magnetic resonance imaging, 558, 559f TA. see Truncus arteriosus (TA) Tables, 724 Tacrolimus, for autoimmune hepatitis, 414 Talipes equinovarus, 523 Tall stature, 224, 225b endocrine causes of, 224 syndromic, 224 Beckwith-Wiedemann syndrome in, 224 Marfan’s syndrome in, 224 Sotos syndrome in, 224 Tanner staging, of puberty, 226, 226f TAR syndrome. see Thrombocytopenia with absent radii (TAR) syndrome Targeted/precision therapies, 721, 721b Taste, 47 TDM. see Therapeutic drug monitoring (TDM) TEC. see Transient erythroblastopenia of childhood (TEC) Telogen effluvium, 486t Temperamental sensitivity, 474 Temperature dysregulation, 70 Temporary conductive hearing losses, 624 Temporary middle ear congestion, 623 TEN. see Toxic epidermal necrolysis (TEN) Teratogens, 168–171, 170f, 523 Term infants complementary foods for, 248–249, 248b formulas for, 246–248, 246b, 247t nutritional requirements for, 245–249 Terminal hair, 485 Terminal seizures, 666 Testis abnormally descended, classification of, 399 development of, 394–395 Testosterone metabolism of, defects of, 397 production of, failure of, 397 Testotoxicosis, 228 Tetanus, neonatal, 653–654 TEWL. see Transepidermal water loss (TEWL) TfR1. see Transferrin receptor 1 (TfR1) α-Thalassaemia, 451 β-Thalassaemia, 445, 450b–452b, 451 Thalassaemias, 450b, 451 Thalidomide, 2b, 523 for morning sickness, 696 Thelarche, premature, 229 Theophyllines, 337 Theory of mind, 465 Therapeutic drug monitoring (TDM), 690–691, 690b for aminoglycosides, 691 for glycopeptides, 691, 691b Therapeutic hypothermia, in postresuscitation care, 84 Therapeutics, 687–702 Thiazides, 511 Thompson scoring system, 212, 213t Thoracic air leaks, in neonates, 191 Thrombocytopenia in children, 458, 458b causes of, 458t in neonatal period, 459

798Index Thrombocytopenia with absent radii (TAR) syndrome, 454, 454t Thrombosis, in children, 459 Thyroid cancer, 509 Thyroid gland, 506–509 anatomy of, 506 diseases and disorders of, 508–509 embryology of, 506 examination of, 507 history of, 507 investigations for, 507 physiology of, 506–507 Thyroid hormone, bile and, 409 Thyroid stimulating hormone (TSH), 506–507 Thyrotoxicosis, 509b Thyrotropin-releasing hormone (TRH), 506–507 Thyroxine, 507, 508b Tiagabine, 568 Tidal breathing, 320–321 spirograph tracing of, 322f Tidal volume, 321, 322f Tinea capitis, 486t Tissue hypoxia, 194 Tissue oxygenation, monitoring of, 195 Tizanidine, for spasticity, 64 Tobramycin, 337–338, 691 Toddlers, nutrient requirements for, 249 Toe walking, 530 Topical anaesthetics, for eye conditions, 605 Topical therapy, 489 Topiramate, 565, 569 Total body clearance, 688 Touch, 50 Townsend Index, 18 Toxic epidermal necrolysis (TEN), 497 Toxic substrate, accumulation of, prevention of, 586 Toxidrome, 109–110, 110t Toxoplasmosis, congenital, 173t, 174 Trachea, anatomy of, 319 Tracheobronchial tree, branching of, in airway resistance, 319 Tracheomalacia, 193 Tracheo-oesophageal fistula, 193, 193f Trachoma, 655 TRALI. see Transfusion-related acute lung injury (TRALI) Transaminases, in liver, 406 Transcutaneous systems, 624–625 Transepidermal water loss (TEWL), 207 Transferrin receptor 1 (TfR1), iron and, 444 Transfusion. see Blood transfusions Transfusion-related acute lung injury (TRALI), 461 Transient erythroblastopenia of childhood (TEC), 446 Diamond-Blackfan anaemia versus, 447t Transient neonatal diabetes mellitus, 155 Transient neonatal myaesthenia, 173 Transient synovitis, 533 Transient tachypnoea of the newborn, 190 Transitional changes, after birth, 176–177 Translational research, 705 Translocation, chromosome, 141, 144 reciprocal, 144 Robertsonian, 144 Transplant, liver, timing of, 418–419 TRAPS. see Tumour necrosis factor alpha receptor-1 associated syndrome (TRAPS) Trauma, 102–107 abdominal injury, 104 burns and scalds, 104–105 drowning, 106–107 head injury, 102–103 hearing loss and, 618 impact on gastrointestinal tract, 274–275 inhalation injury, 106 spinal cord injury, 103–104 Traumatic extra-axial bleeds, 102–103 Traumatic nail injury, 485 Treacher Collins syndrome, 614t, 619 Trematodes, 280 Trendelenburg’s sign, 557 TRH. see Thyrotropin-releasing hormone (TRH) Trial design, 706, 707b, 708t children and young people in, 712 monitoring, 717–718 registration of, 712, 715b validity of, 748, 748b Tricarboxylic acid cycle, 578–579 Trichotillomania, 486t Trigeminal neuralgia, 566 Trigeminovascular system, 563 Triglycerides, 500 Triplet repeat expansion mutations, 147 Triptans, 565 Trisomy 21. see Down’s syndrome (trisomy 21) Trophoblast, placental, 159 True central precocious puberty, 227 True hermaphroditism, 398 Truncus arteriosus (TA), development of, 346 Trypsinogen, 260 TSH. see Thyroid stimulating hormone (TSH) T-tests, 733 Tuberculosis, in children, 291, 646–647, 647b Tuberous sclerosis, 150, 483t Tuberous sclerosis complex (TSC), 483b Tumour lysis syndrome, 434t, 435b Tumour markers, 428 Tumour necrosis factor alpha receptor-1 associated syndrome (TRAPS), 541t Tumour suppressor genes, 423 Tunica adventitia, 342 Tunica intima, 342 Tunica media, 342 Turner’s syndrome (45, X), 144, 146, 528t short stature and, 221, 231b 22q11 deletion syndrome (DiGeorge or velocardiofacial syndrome), 146 Twin transfusion syndrome, 164 Two-sample t-tests, 733 Tympanometry, 623, 623f Typhilitis, 434t Tyrosinaemia type 1, 410t Tyrosine kinase, 499 Tyrosyl, 506–507 U U wave, in electrocardiogram (ECG), 358–359 UK Healthy Child Programme, 19, 20b Ulcer, 488t Ulcerative colitis, as inflammatory bowel disease, 262 Ultrasound cranial, 558 of gastrointestinal tract, 270 musculoskeletal, 537 for periventricular-intraventricular haemorrhage, 187b for prenatal care, 161 of urinary tract, 373–374 Umami, 47 Umbilical artery Doppler, 163, 163f Umbilical system, development of, 346 UNCRC. see United Nations Convention of Rights of the Child (UNCRC) Undernutrition, 650 aetiology of, 650–651 nutrient requirements for, 250 Unilateral congenital cataracts, 595 Uniparental disomy (UPD), 154, 154f testing for, 154 United airways disease, 311, 311f United Nations Convention of Rights of the Child (UNCRC), 119 Upbeat nystagmus, 603 UPD. see Uniparental disomy (UPD) Upper limb examination, 556b Urea breath tests, 268 Urea cycle, 574–575, 574f biochemistry of, 574–575 disorders/defects of, 576b clinical, 575 diagnosis of, 575, 575t management of, 575 presentation of, 575 Urinary alkalinization, 112 for aspirin overdose, 114 Urinary stasis, UTI and, 377 Urinary tract congenital anomalies of, 371t embryology of, 370–372, 370f, 371b imaging of, 373–374 major components of, 367f Urinary tract infection (UTI), 377–378 atypical, 378b organisms associated with, 290t recurrent, 378b Urine examination of, 372–373, 372b formation of, 372

799 Urobilinogen, 407b Urolithiasis, 385–386, 385b, 385f Urticarias, 310, 312b Usher syndrome, 614t UTI. see Urinary tract infection (UTI) Utilitarianism, 674 Uveitis, sympathetic, 592 V Vaccination, 292, 647–648 schedules of, 292, 648, 648f Vaccine(s) design for, 292–293 inactivated, 292 live attenuated, 292 safety and adverse events of, 293–294 Vaginal agenesis, 401 Vaginal bleeding, 402 Vaginal discharge, 132b, 401 Vagus nerve stimulation, 569 VALI. see Ventilator-associated lung injury (VALI) Validity bias reduction and, 748–749 of common trial designs, 748, 748b evidence-based medicine and, 746–749 of study, in statistics, 737 Vanillylmandelic acid (VMA), as tumour marker, 428 Variable angle squint, 49 Variance, 728 Varicella zoster virus (VZV) infection, 174 Vascular permeability, increased, in sepsis, 99 Vascular ring, anatomy of, 330f Vasoconstriction, 34 in sepsis, 99 Vasodilation, in sepsis, 99 Vasodilator, for hypertension, 382t Vellus hair, 485 Velocardiofacial syndrome, 146 Veno-occlusive disease, following liver transplantation, 419–420 Venous hum, 38 Venous system, development of, 346–347 Ventilation breaths, for cardiopulmonary arrest, 83 Ventilation-perfusion (V/Q) mismatch, 194 Ventilator-associated lung injury (VALI), 87–88 avoiding, 88 Ventilatory support for respiratory failure, 87–88 indications for, 87b invasive, 87–88 non-invasive, 87 support modes of, 88 for SMA type 1, 681b Ventricles, anatomy of, 342 Ventricular septal defect (VSD), 346b Ventricular tachycardia (VT), 360–361 Ventriculo-peritoneal shunt, 681b–682b VEPs. see Visual evoked potentials (VEPs) Vernix caseosa, 479 Vertical gaze, 602, 603b Vesicle, 488t Vesico-ureteric reflux (VUR), 378 Vestibular aqueducts, widened/enlarged, 616 Vestibular eye movements, 602 Vestibular system, 610, 611b, 611f balance and, 612 Vigabatrin, 569 Viral infection, allergy and, 311 Viral-induced wheeze, use of oral prednisolone in, 704b Virtue ethics, 675 Virtues, definition of, 675 Viruses, 277–278, 278f Vision, 48–49, 48f, 48t disorders of, 612b impairment in, in children with special needs, 71 Visual evoked potentials (VEPs), 48–49, 562 Visual pathway, 597–598, 597f anterior, 597–598 dorsal and ventral streams of visual processing, 598 posterior, 598 Visual reinforcement audiometry, 49, 621–623 Vital signs, 33, 33f Vitamin, absorption of, in small intestine, 260–261 Vitamin A, for measles, 647 Vitamin B1 (thiamine) disorders, 583t Vitamin B2 (riboflavin) disorders, 583t Vitamin B6 (pyridoxal phosphate) disorders, 583t Vitamin B6 (pyridoxine) disorders, 583t Vitamin B7 (biotin) disorders, 583t Vitamin B9 (folic acid) disorders, 583t Vitamin B12 (hydroxycobalamin) disorders, 583t Vitamin D deficiency of, 246b rickets, 534, 534b supplementation of, in pregnancy, 160 for term infants, 245 Vitamin E, 583t Vitamin responsive disorders, 583t Vitelline system, development of, 346 Vitiligo, 496, 496b–497b, 496f Vitreo-retinal dysplasia, 591 VMA. see Vanillylmandelic acid (VMA Vocational readiness, in adolescence, 631 Voltage-dependent sodium channels, medications acting at, 568 Volume control (VC) ventilation, 88f Volume of distribution (Vd), 688, 688b Vomiting, 267, 267t, 662–663, 662b–663b von Willebrand disease, 457 von Willebrand factor (VWF), 457 VSD. see Ventricular septal defect (VSD) VT. see Ventricular tachycardia (VT) Vulnerability, and maltreatment, 123–124, 123f Vulnerable children, 655–656 Vulvovaginitis, 401 VWF. see von Willebrand factor (VWF) W Waardenburg (WS) syndrome, 614t Wandering/running off, Down’s syndrome and, 466b Water, absorption of, in small intestine, 261 Water deprivation test, 510–511 Website resources, 742b Weight loss and gain, neonatal, 208 measurement of, dehydration and, 96 Well-being of children, 467b measures of, in children, 12–13, 12b–13b Werdnig-Hoffmann disease, 67 Wet wraps, 490 Wheal/weal, 488t Wheeze, 324–325, 324f Whole bowel irrigation, 111–112 Wilcoxon matched paired test, 734 Williams syndrome, 146 Wilms’ tumour, 438b–439b syndromes associated with, 426 Wilson’s disease, 417 Wiskott-Aldrich syndrome, 274, 287t Withdrawing treatment, withholding life-sustaining treatment versus, 667 Withholding life-sustaining treatment, withdrawing versus, 667 Workload, reduce, in evidence-based medicine, 740 World Health Organization (WHO) criteria for population screening by, 21 in pneumonia and diarrhoea, 644 Wounds, 665–666 X X-linked agammaglobulinaemia, 286t gastrointestinal tract and, 273 X-linked dominant disorders, 152 X-linked hyper-IgM syndrome, 287t X-linked lymphoproliferative syndrome, 287t X-linked recessive inheritance, 151–152, 151f Y Yeast, 280 Yoke muscles, 600, 601f Z Z scores, 728 Zonisamide, 568

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