Swaiman's Pediatric Neurology

1. Introduction - p. 58 2. The Peripheral Neural Code - p. 58.e1 3. Anatomy and Physiology of the Ear and Auditory System - p. 58.e2 4. The External Ear - p. 58.e2 5. The Middle Ear - p. 58.e2 6. The Inner Ear - p. 58.e3 7. The Cochlea: Partitions and Fluids - p. 58.e3 8. The Cochlear and Vestibular Aqueducts - p. 58.e3 9. The Organ of Corti - p. 58.e3 10. Mechanoelectrical Transduction - p. 58.e4 11. Cochlear Filtering and the Tonotopic Code: General Principles - p. 58.e4 12. Cochlear Filtering: The Tonotopic Code and the Cochlear Amplifier - p. 58.e4 13. The Ribbon Synapse and Temporal Code - p. 58.e4 14. The Cochlear Nerve: Innervation Pattern of the Cochlea - p. 58.e5 15. Efferent Innervation of the Cochlea: Physiological Role - p. 58.e5 16. The Central Auditory Nervous System - p. 58.e5 17. Parallel and Binaural Processing - p. 58.e6 18. Hierarchical Processing - p. 58.e6 19. Multimodal Organization of the Auditory Pathways - p. 58.e6 20. Sound Sources Reconstruction - p. 58.e7 21. Auditory Scene Analysis - p. 58.e7 22. Sound Sources Localization - p. 58.e9 23. Auditory Disorders and Localization - p. 58.e10 24. Binaural Hearing Evaluation - p. 58.e10 25. Auditory Processing Disorder - p. 58.e11 26. Hidden Hearing Loss - p. 58.e11 27. Effortful Listening - p. 58.e12 28. Hearing Loss - p. 58.e13 29. Consequences of Hearing Impairment - p. 59 30. Critical Periods - p. 60 31. Early Diagnosis and Intervention - p. 60 32. Evaluation of Auditory Function - p. 60 33. Behavioral Testing - p. 61.e1 34. Behavioral Testing: Suprathreshold Evaluations - p. 61.e2 35. Objective Methods - p. 61.e2 36. Middle Ear Evaluation - p. 61.e3 37. Objective Audiometry - p. 61.e4 38. Additional Otoacoustic Emission Applications - p. 61.e4 39. Auditory-Evoked Potentials - p. 61.e5 40. Auditory-Evoked Potentials - p. 61 41. Classification by Variation Rate - p. 61 42. Classification by Long-Term Time Course - p. 61 43. Classification by Dependency on Cognition - p. 61 44. Transient Auditory Brainstem Responses - p. 61 45. Transient Auditory Brainstem Responses Generators - p. 61 46. Transient ABRs: Click-ABR for Audiological Applications - p. 61.e6 47. The Chirp Stimulus - p. 61.e6 48. Click–Auditory Brainstem Response Latency-Intensity Function - p. 61.e6 49. Click–Auditory Brainstem Responses: Click Polarity Effects - p. 61.e8 50. Click-ABRs: Click Polarity Effects in High-Frequency Losses - p. 61.e8 51. Click-ABRs: Click Polarity Effects and the Cochlear Microphonic Potential - p. 61.e8 52. Electrophysiological Frequency-Specific Thresholds: Stimuli - p. 61.e9 53. Applications of Late Auditory-Evoked Potentials - p. 61.e11 54. Frequency-Following Response and Speech-Evoked Auditory Brainstem Responses - p. 61.e12 55. The Cross-Check Principle - p. 62 56. The Cross-Check Principle - p. 62.e1 57. Cross-Checking Examples - p. 63.e1 58. Critical Review of Auditory Brainstem Response Tracings - p. 63.e2 59. Criteria for Critical Reviewing of Auditory Brainstem Response Tracings - p. 63.e2 60. Erroneous Threshold Estimation Example - p. 63.e3 61. Imaging - p. 63.e3 62. Genetic Testing: Objectives and Methods - p. 63.e3 63. Hearing Impairment in the Pediatric Population - p. 63 64. Causes of Congenital and Infantile Sensorineural Hearing Impairment - p. 64 65. Environmental Causes - p. 64 66. Congenital Cytomegalovirus Infection and Sensorineural Hearing Impairment - p. 64.e1 67. Ototoxicity - p. 64.e1 68. Noise-Induced Hearing Loss - p. 64.e1 69. Traumatic Hearing Loss - p. 64.e1 70. Interactions Between Environmental Causes and Genetically Determined Susceptibility - p. 64.e1 71. Genetics of Deafness - p. 64.e1 72. Genetic Architecture of Sensorineural Isolated Deafness and Molecular Diagnosis - p. 65.e1 73. Syndromic Deafness Forms - p. 65.e1 74. Usher Syndrome: Three Clinical Subtypes and Their Causal Genes, the Need for Early Molecular Diagnosis and Underlying Pathogenic Mechanisms - p. 65.e1 75. Contributions of the Mitochondrial Genome to Aminoglycoside Ototoxicity, Isolated Sensorineural Deafness and Many Forms of Syndromic Deafness - p. 65.e3 76. Genetic Architecture of Auditory Neuropathy Spectrum Disorder - p. 65.e4 77. Pathogenic Mechanisms Underlying Genetic Forms of Isolated Sensorineural Deafness - p. 65.e7 78. Ongoing Research Into the Prevention and Cure of Hearing Impairment - p. 65.e7 79. The Long Journey from the Identification of a Causal Deafness Gene to a Clinical Trial for Gene Therapy: The Case of DFNB9, Caused by Defects of the OTOF Gene Encoding Otoferlin - p. 66.e1 80. Clinical Evaluation and Specialized Testing - p. 66.e2 81. Management of Hearing Loss - p. 66.e2 82. Cochlear Implants - p. 67 83. Cochlear Implant in Auditory Neuropathy Spectrum Disorder - p. 68.e2 84. Bilateral Cochlear Implants - p. 68.e2 85. Hybrid Cochlear Implants - p. 68.e2 86. Brainstem Implants - p. 68.e2 87. Constraints on Speech and Language Learning - p. 68.e3 88. Acknowledgments - p. 68.e3 89. Selected References - p. 68 90. References - p. 68.e1 91. 8. Vertigo - p. 69 92. 9. Taste and Smell - p. 76 93. 10. N­eu­ro­psychological Assessment - p. 84 94. Part II: Care of the Child With Neurologic Disorders - p. 92 95. 11. Counseling Children With Neurologic Disorders and Their Families - p. 92a 96. 12. Pediatric Neurorehabilitation Medicine - p. 97 97. 13. Pediatric Palliative Care, Pain, and Symptom Management - p. 108 98. 14. Practical Bioethics in Child Neurology - p. 118 99. 15. Transitional Care for Children With Neurologic Disorders - p. 126 100. 16. Practice Guidelines in Pediatric Neurology - p. 132 101. 17. Measurement of Health Outcomes in Pediatric Neurologic Disorders - p. 142 102. 18. Computer Resources, Artificial Intelligence, and Telemedicine - p. 149 103. 19. Education and Training of Child Neurologists and Workforce Issues - p. 155 104. Part III: Neurodiagnostic Testing - p. 163 105. 20. Cerebrospinal Fluid Examination - p. 163a 106. 21. Pediatric Neuroimaging - p. 169 107. 22. P­ed­ia­tric N­eu­rophysiologic Evaluation - p. 176 108. Part IV: Global Child Neurology - p. 189 109. 23. Regional and Global Implications for Children’s Brain Health - p. 189a 110. 24. Implementing Child Neurology Care in Resource-Limited Settings - p. 195 111. 25. Adaptation a­nd I­mp­lementation of Guidelines at the Local Level - p. 202 112. Part V: Neonatal Neurology - p. 208 113. 26. Neonatal Neuro-Intensive Care - p. 208a 114. 27. Provoked Neonatal Seizures and Neonatal Onset Epilepsy - p. 216 115. 28. Hypoxic-Ischemic Brain Injury in the Term Newborn - p. 226 116. 29. C­er­ebrovascular Disorders in the Newborn - p. 236 117. 30. Neonatal Nervous System Trauma - p. 245 118. 31. Injury to the Developing Preterm Brain: Intraventricular Hemorrhage and White Matter Injury - p. 251 119. Introduction - p. 251 120. Intraventricular Hemorrhage - p. 251 121. Vascular Genes - p. 257.e3 122. Acknowledgments - p. 264 123. Selected References - p. 264 124. References - p. 265.e1 125. 32. Perinatal Metabolic Encephalopathies - p. 266 126. Part VI: Environment and Brain Development - p. 274 127. 33. The Neural Exposome and Environmental Neuroscience - p. 274a 128. 34. Adverse Childhood Experiences - p. 285 129. 35. The Neurological Impact of Prenatal Substance Exposure - p. 293 130. 36. Environmental Pollutants - p. 303 131. 37. Malnutrition, Nutrition, and Dietary Toxins - p. 312 132. 38. Poisoning and Drug-Induced Neurologic Diseases - p. 319 133. Part VII: Congenital Structural Defects - p. 327 134. 39. Introduction to Human Brain Malformations - p. 327a 135. 40. Disorders of Neural Tube Development - p. 331 136. 41. Disorders of Forebrain Development - p. 341 137. 42. Disorders of Cerebellar and Brainstem Development - p. 353 138. 43. Microcephaly a­nd M­eg­alencephaly: Disorders of Brain Size - p. 364 139. 44. Malformations of Cortical Development - p. 375 140. 45. Hydrocephalus, Cysts, and Cystic Malformations - p. 384 141. 46. Congenital Anomalies of the Skull - p. 389.e1 142. 47. Prenatal Diagnosis of Structural Brain Anomalies - p. 402 143. Part VIII: Neurogenetics - p. 412 144. 48. Neurogenetics in the Genome Era - p. 412a 145. 49. Genetic Counseling in the Genomic Era - p. 422 146. 50. Chromosomes and Chromosomal Abnormalities - p. 429 147. 51. Single-Gene Abnormalities - p. 436 148. 52. N­eu­rocutaneous Disorders - p. 446 149. 53. Emerging Gene-Based P­at­hw­ays: C­hannelopathies (Epilepsy and Beyond) - p. 455 150. 54. Emerging Gene-Based Pathways: mTORopathies - p. 463 151. 55. Emerging Gene-Based Pathways: RASopathies - p. 473 152. 56. Emerging Gene-Based Pathways: Chromatin Remodeling Disorders - p. 479 153. 57. The Neuronal C­er­oid L­ip­ofuscinoses - p. 487 154. Part IX: Metabolic Disorders - p. 501 155. 58. Approach to the Patient With a Metabolic Disorder - p. 501a 156. 59. A­mi­noacidemias and Organic Acidemias - p. 514 157. 60. Urea Cycle Disorders - p. 530 158. 61. Diseases Associated With Primary Abnormalities in Carbohydrate Metabolism - p. 539 159. 62. Disorders of Glycosylation - p. 558 160. 63. Lysosomal Storage Diseases - p. 573 161. Overview and General Concepts - p. 573 162. Sphingolipidoses - p. 577 163. Multiple Sulfatase Deficiency (Austin Disease) - p. 586 164. Wolman Disease and Cholesteryl Ester Storage Disorder - p. 587 165. Mucopolysaccharidoses - p. 587 166. Glycoproteinoses - p. 589 167. Mucolipidoses - p. 590 168. Glycogen Storage Disease Type II (Pompe Disease) - p. 591 169. Danon Disease - p. 592 170. Sialic Acid Storage Disorders - p. 592 171. Cystinosis - p. 593 172. Neuronal Ceroid Lipofuscinoses - p. 593 173. Selected References - p. 594 174. References - p. 594 175. 64. Mitochondrial Diseases - p. 596 176. History of Mitochondrial Genetics - p. 596 177. Classification of Mitochondrial Diseases - p. 596 178. Classification of Primary Mitochondrial Disorders - p. 598 179. Defects of Pyruvate Metabolism and of the Krebs Cycle - p. 602 180. Genetics - p. 603 181. Acknowledgments - p. 606 182. Selected References - p. 606 183. References - p. 606 184. 65. Peroxisomal Disorders - p. 607 185. 66. Neurotransmitter-Related Disorders - p. 614 186. 67. Disorders of Vitamin Metabolism - p. 623 187. Part X: Neurodevelopmental Disorders - p. 636 188. 68. N­eu­ro­developmental Disabilities: Conceptual Framework - p. 636a 189. 69. I­nt­el­le­ctual D­ev­el­op­me­ntal Disorder and Global Developmental Delay - p. 642 190. 70. Regressive and Degenerative Genetic Neurological Disorders - p. 651 191. 71. D­ev­el­op­me­ntal E­nc­ephalopathies - p. 662 192. 72. D­ev­elopmental Language Disorders - p. 670 193. 73. Nonverbal Learning Disorders - p. 676 194. 74. Dyslexia - p. 681 195. 75. Attention-Deficit/Hyperactivity Disorder - p. 684 196. 76. Autism Spectrum Disorder - p. 696 197. 77. Cerebral Palsy - p. 712 198. 78. D­ev­elopmental Coordination Disorder - p. 721 199. 79. Treatment of Neurodevelopmental Disorders - p. 727 200. 80. Neuropsychopharmacology - p. 747 201. Part XI: Epilepsy - p. 759 202. 81. Overview of Seizures and Epilepsy in Children - p. 759a 203. 82. Principles of Management and Outcome - p. 764 204. 83. Pathophysiology of Seizures and Epilepsy - p. 770 205. 84. Epilepsy Genetics - p. 777 206. 85. Febrile Seizures - p. 787 207. 86. Generalized Seizures - p. 792 208. 87. Focal and Multifocal Seizures - p. 800 209. 88. Myoclonic Seizures - p. 807 210. 89. Infantile Epileptic Spasms Syndrome - p. 813 211. 90. Status Epilepticus - p. 821 212. 91. Electroclinical Syndromes: Neonatal Onset - p. 831 213. 92. Electroclinical Syndromes: Infantile Onset - p. 837 214. 93. Electroclinical Syndromes: Childhood Onset - p. 845 215. 94. Electroclinical Syndromes: Adolescent Onset - p. 853 216. 95. Focal Structural Epilepsy - p. 862 217. 96. Acquired Epilepsies: Trauma, Stroke, and Tumors - p. 869 218. 97. Inherited Metabolic Epilepsies - p. 874 219. 98. Antiseizure Medication Therapy in Children - p. 881 220. 99. Epilepsy Surgery in the Pediatric Population - p. 894 221. 100. N­eu­romodulation in Epilepsy - p. 909 222. 101. Ketogenic Diets - p. 920 223. 102. Behavioral, Cognitive, and Social Implications of Childhood Epilepsy - p. 926 224. 103. Mortality in Children With Epilepsy - p. 932 225. Part XII: Nonepileptiform Paroxysmal Disorders - p. 937 226. 104. Headache in Children and Adolescents - p. 937a 227. 105. Breath-Holding Spells and Reflex Anoxic Seizures - p. 945 228. 106. Psychogenic Nonepileptic Seizures and Psychiatric Disorders - p. 950 229. 107. Functional Neurological Symptom Disorder in Children and Adolescents - p. 956 230. 108. Syncope and Postural Orthostatic Tachycardia Syndrome - p. 963 231. 109. Brief Resolved Unexplained Events, Apparent Life-Threatening Events, and Sudden Infant Death Syndrome - p. 971 232. Part XIII: Disorders of Sleep - p. 979 233. 110. Restless Legs Syndrome and Periodic Limb Movement Disorder in Children and Adolescents - p. 979a 234. 111. Nocturnal Paroxysmal Disorders - p. 985 235. 112. Disorders of Excessive Sleepiness - p. 991 236. Part XIV: Disorders of Balance and Movement - p. 998 237. 113. The Cerebellum and the Hereditary Ataxias - p. 998a 238. 114. Movement Disorders: An Overview - p. 1011 239. Introduction - p. 1011 240. Characteristic Features of Pediatric Movement Disorders - p. 1011 241. Diagnosis of Movement Disorders - p. 1011 242. The Role of the Basal Ganglia in Movement Disorders - p. 1011 243. Etiologies of Movement Disorders in Children - p. 1011 244. Classification of Childhood Movement Disorders - p. 1012 245. Approach to Treatment - p. 1012 246. Chorea - p. 1012 247. Dystonia - p. 1014 248. Tremor - p. 1019 249. Parkinsonism - p. 1021 250. Myoclonus - p. 1022 251. Stereotypy - p. 1022 252. Other Movement Disorders - p. 1023 253. Functional Movement Disorders - p. 1023 254. Selected References - p. 1024 255. References - p. 1024.e1 256. 115. Paroxysmal Dyskinesias - p. 1025 257. 116. Movement Disorders of Infancy - p. 1031 258. 117. Drug-Induced Movement Disorders in Children - p. 1036 259. 118. Tics and Tourette Syndrome - p. 1043 260. Part XV: White Matter Disorders - p. 1049 261. 119. Genetic and Metabolic Disorders of the White Matter - p. 1049a 262. 120. Acquired Disorders Affecting the White Matter - p. 1064 263. Part XVI: Brain Injury and Disorders of Consciousness - p. 1072 264. 121. Impairment of Consciousness and Coma - p. 1072a 265. 122. Traumatic Brain Injury in Children - p. 1084 266. Introduction and Background - p. 1084 267. Pathophysiology of Traumatic Brain Injury - p. 1086 268. Patient History - p. 1087 269. Examination - p. 1087 270. Immediate Management - p. 1089 271. Acute Clinical Syndromes - p. 1089 272. Diagnostic Evaluation - p. 1091 273. Lumbar Puncture - p. 1091 274. Neurophysiological Testing - p. 1091 275. General Management Principles for Severe Pediatric Traumatic Brain Injury - p. 1092 276. General Management of Mild Traumatic Brain Injury/Concussion - p. 1093 277. Diagnosis of Concussion/Mild Traumatic Brain Injury - p. 1093 278. Prognostication for Concussion/Mild Traumatic Brain Injury - p. 1093 279. Treatment for Concussion/Mild Traumatic Brain Injury - p. 1093 280. Prognosis and Outcome: Moderate-to-severe Traumatic Brain Injury - p. 1093 281. Late Clinical Syndromes - p. 1094 282. Conclusions - p. 1096 283. Selected References - p. 1097 284. References - p. 1097 285. 123. Abusive Head Trauma - p. 1098 286. 124. H­yp­ox­ic­-I­sc­hemic E­nc­ephalopathy in Infants and Older Children - p. 1107 287. 125. Disorders of Intracranial Pressure - p. 1118 288. 126. Spinal Cord Injury - p. 1127 289. 127. Determination of Brain Death/Death by Neurologic Criteria in Infants and Children - p. 1138 290. Part XVII: Cerebrovascular Disease in Children - p. 1147 291. 128. Arterial Ischemic Stroke in Infants and Children - p. 1147a 292. 129. Sinovenous Thrombosis - p. 1161 293. 130. V­as­cu­lar M­al­formations, Intracerebral Hemorrhage, and Subarachnoid Hemorrhage in Infants and Children - p. 1169 294. 131. Cerebral Arteriopathies - p. 1176 295. 132. Coagulation Disorders a­nd C­er­ebrovascular Disease in Children - p. 1183 296. Part XVIII: Infections of the Nervous System - p. 1190 297. 133. Bacterial Infections of the Nervous System - p. 1190a 298. 134. Viral Infections of the Nervous System - p. 1199 299. 135. Fungal, Rickettsial, and Parasitic Diseases of the Nervous System - p. 1212 300. 136. Neurologic Complications of Immunization - p. 1227 301. Part XIX: Immune-Mediated Disorders of the Nervous System - p. 1236 302. 137. Diagnosis and Management of Pediatric Neuroimmunological Disorders - p. 1236a 303. 138. Autoimmune Encephalitis - p. 1244 304. 139. Autoimmune-Associated Epilepsies - p. 1252 305. 140. Sydenham Chorea, Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcus, and Pediatric Acute Neuropsychiatric Syndrome - p. 1260 306. 141. Immune-Mediated Cerebellar Disorders - p. 1268 307. 142. N­eu­ro­rheumatology - p. 1271.e1 308. Part XX: Pediatric Neuro-Oncology - p. 1279 309. 143. Pediatric Neuro-Oncology: An Overview - p. 1279a 310. 144. M­ed­ulloblastoma - p. 1284.e1 311. 145. Other Embryonal and Pineal Malignancies of the Central Nervous System - p. 1291 312. 146. Ependymoma - p. 1295.e1 313. 147. Pediatric-Type Diffuse High-Grade Glioma - p. 1302 314. 148. Pediatric Low-Grade Glioma - p. 1306.e1 315. 149. Diffuse Intrinsic Pontine Glioma and Diffuse Midline Glioma - p. 1312 316. 150. Atypical Teratoid/Rhabdoid Tumors - p. 1316 317. 151. Central Nervous System Germ Cell Tumors - p. 1321 318. 152. C­ra­ni­op­ha­ry­ng­iomas, Meningiomas, and S­ch­wannomas - p. 1328 319. 153. Pediatric Intradural Spinal Cord Tumors - p. 1334 320. 154. Systemic Cancers and Central Nervous System Involvement - p. 1340 321. 155. Treatment-Related Neurologic Sequelae of Pediatric Central Nervous System Tumors - p. 1346 322. Part XXI: Neuromuscular Disorders - p. 1353 323. 156. Muscle and Nerve Development in Health and Disease - p. 1353a 324. 157. Diagnostic Testing in Children With S­us­pe­cted N­eu­romuscular Disorders - p. 1370 325. 158. Clinical Assessment of P­ed­ia­tric N­eu­romuscular Disorders - p. 1377 326. 159. The Floppy Infant - p. 1385 327. 160. Classic Proximal Spinal Muscular Atrophy - p. 1392 328. 161. Other M­ot­or N­eu­ron Diseases o­f C­hi­ldhood - p. 1401 329. 162. Genetic Peripheral Neuropathies - p. 1411 330. 163. Acquired Peripheral Neuropathies - p. 1418 331. 164. Inflammatory Neuropathies - p. 1426 332. 165. Congenital Myasthenic Syndromes - p. 1433 333. 166. Acquired Disorders of t­he N­eu­romuscular Junction - p. 1440 334. 167. Duchenne and Becker Muscular Dystrophy - p. 1449 335. 168. Congenital, Limb-Girdle, and Other Muscular Dystrophies - p. 1459 336. Introduction - p. 1459 337. Dystrophinopathies (Duchenne and Becker Muscular Dystrophies and Clinical Variants) - p. 1459 338. Limb-Girdle Muscular Dystrophies - p. 1459 339. Emery-Dreifuss Muscular Dystrophy - p. 1466 340. Facioscapulohumeral Muscular Dystrophy - p. 1467 341. Oculopharyngeal Muscular Dystrophy - p. 1469 342. Congenital Muscular Dystrophies - p. 1469 343. Acknowledgments - p. 1473 344. Selected References - p. 1473 345. References - p. 1473.e1 346. 169. Congenital Myopathies - p. 1475 347. 170. Metabolic Myopathies - p. 1481 348. 171. Inflammatory Myopathies - p. 1494 349. 172. C­ha­nnelopathies: Myotonic Disorders and Periodic Paralysis - p. 1507 350. 173. M­ul­ti­di­sc­ip­linary Management of Children With N­eu­romuscular Conditions - p. 1517 351. Part XXII: Systemic and Autonomic Nervous System Diseases - p. 1528 352. 174. Endocrine Disorders of the Hypothalamus and Pituitary in Childhood and Adolescence - p. 1528a 353. 175. Disorders of the Autonomic Nervous System: Autonomic Dysfunction in Pediatric Practice - p. 1537 354. 176. Disorders of Micturition and Defecation - p. 1548 355. 177. Neurologic Disorders in Children With Heart Disease - p. 1554 356. 178. Neurologic Disorders Associated With Renal Diseases - p. 1568 357. Renal Diseases Secondarily Affecting the Nervous System - p. 1568 358. Diseases Affecting Both Kidney and Nervous System - p. 1574 359. Neurologic Drugs That May Affect Renal Function in Individuals With Normal Kidneys - p. 1576 360. Drug Therapy in Renal Disease - p. 1577 361. Acknowledgments - p. 1578 362. Selected References - p. 1578 363. References - p. 1579.e1 364. 179. N­eu­ro­lo­gic M­an­if­es­ta­tions and Disorders Associated With Gastrointestinal Diseases - p. 1580 365. Index - p. 1589