BOOK
Swaiman's Pediatric Neurology - E-Book
Kenneth F. Swaiman | Stephen Ashwal | Donna M Ferriero | Nina F Schor
(2011)
Additional Information
Book Details
Abstract
Swaiman’s Pediatric Neurology, by Drs. Kenneth Swaiman, Stephen Ashwal, Donna Ferriero, and Nina Schor, is a trusted resource in clinical pediatric neurology with comprehensive, authoritative, and clearly-written guidance. Extensively updated to reflect advancements in the field, this fifth edition covers new imaging modalities such as pediatric neuroimaging, spinal fluid examination, neurophysiology, as well as the treatment and management of epilepsy, ADHD, infections of the nervous system, and more. The fully searchable text is now available online at www.expertconsult.com, along with downloadable images and procedural videos demonstrating intraventricular hemorrhage and white matter injury, making this an indispensable multimedia resource in pediatric neurology.
- Gain a clear visual understanding from the numerous illustrations, informative line drawings, and summary tables.
- Tap into the expertise of an authoritative and respected team of editors and contributors.
- Get comprehensive coverage of all aspects of pediatric neurology with a clinical focus useful for both the experienced clinician and the physician-in-training.
- Access the fully searchable text online at www.expertconsult.com, along with 16 additional online-only chapters, downloadable images, videos demonstrating intraventricular hemorrhage and white matter injury, and links to PubMed.
- Stay current on recent developments through extensive revisions: a new chapter on paraneoplastic syndromes in children; a new section on congenital brain malformations written by leading international authorities; and another one on cutting-edge pediatric neuroscience concepts relating to plasticity, neurodegeneration of the developing brain, and neuroinflammation.
- Apply the latest information on diagnostic modalities, including pediatric neuroimaging, spinal fluid examination, and neurophysiology
Table of Contents
| Section Title | Page | Action | Price |
|---|---|---|---|
| Front Cover | Cover | ||
| Swaiman’s Pediatricn Neurology: Principles and Practice Volume 1 | iii | ||
| Swaiman’s Pediatric Neurology: Principles and Practice Volume 2 | i | ||
| Copyright | iv | ||
| Contents | v | ||
| Video Table of Contents | ix | ||
| Preface to the First Edition | xi | ||
| Preface to the Fifth Edition | xiii | ||
| Contributors | xv | ||
| Acknowledgments | xxiii | ||
| Part I: Clinical Evaluation | 1 | ||
| Chapter 1: General Aspects of the Patient's Neurologic History | e1 | ||
| Chapter 2: Neurologic Examination of the Older Child | e15 | ||
| Observation | e15 | ||
| Screening Gross Motor Function | e15 | ||
| Physical Examination | e15 | ||
| Deep Tendon Reflexes | e15 | ||
| Other Reflexes | e17 | ||
| Cerebellar Function | e17 | ||
| Cranial Nerve Examination | e17 | ||
| Olfactory Nerve: Cranial Nerve I | e17 | ||
| Optic Nerve: Cranial Nerve II | e17 | ||
| Oculomotor, Trochlear, and Abducens Nerves: Cranial Nerves III, IV, and VI | e18 | ||
| Trigeminal Nerve: Cranial Nerve V | e20 | ||
| Facial Nerve: Cranial Nerve VII | e20 | ||
| Auditory Nerve: Cranial Nerve VIII | e21 | ||
| Glossopharyngeal and Vagus Nerves: Cranial Nerves IX and X | e21 | ||
| Spinal Accessory Nerve: Cranial Nerve XI | e22 | ||
| Hypoglossal Nerve: Cranial Nerve XII | e22 | ||
| Sensory System | e22 | ||
| Skeletal Muscles | e23 | ||
| Muscle Testing | e23 | ||
| Gait evaluation | e32 | ||
| Chapter 3: Neurologic Examination after the Newborn Period until 2 Years of Age | e33 | ||
| Approach to the Evaluation | e33 | ||
| Evaluation of the Patient | e33 | ||
| Stage 1 | e33 | ||
| Head | e34 | ||
| Cranial Nerves | e35 | ||
| Motor Evaluation | e35 | ||
| Sensory Testing and Cutaneous Examination | e37 | ||
| Stage 2 | e38 | ||
| Motor Performance Instruments | e38 | ||
| Developmental Reflexes | e38 | ||
| Stage 3 | e41 | ||
| Stage 4 | e41 | ||
| General Considerations | e42 | ||
| Chapter 4: Neurologic Examination of the Term and Preterm Infant | e43 | ||
| The Term Infant | e43 | ||
| Observation | e43 | ||
| Cranial Vault Evaluation | e45 | ||
| Developmental Reflexes | e45 | ||
| Motor Function | e47 | ||
| Cranial Nerve Examination | e47 | ||
| The Preterm Infant | e49 | ||
| General Examination | e49 | ||
| Electrophysiologic Assessment | e49 | ||
| Neurologic Examination | e50 | ||
| Environmental Interaction | e50 | ||
| Formal Scale of Gestational Assessment | e50 | ||
| Deep Tendon Reflex Assessment | e51 | ||
| Body Attitude | e52 | ||
| Muscle Tone | e52 | ||
| Cranial Nerves | e55 | ||
| Developmental Reflexes | e56 | ||
| Assessment of Head Growth Patterns | e58 | ||
| Chapter 5: Muscular Tone and Gait Disturbances | e60 | ||
| Pathology | e60 | ||
| Evaluation of the Patient | e61 | ||
| History | e61 | ||
| Examination | e61 | ||
| Diagnosis | e63 | ||
| Clinical Laboratory Studies | e63 | ||
| Gait Impairment | e64 | ||
| Physiologic Considerations | e65 | ||
| Evaluation of the Patient | e66 | ||
| Differential Diagnosis | e67 | ||
| Spastic Hemiplegic Gait | e67 | ||
| Spastic Paraplegic Gait | e67 | ||
| Cerebellar Gait | e67 | ||
| Acute Cerebellar Ataxia | e68 | ||
| Sensory Ataxia | e68 | ||
| Extrapyramidal Gait | e68 | ||
| Other Dyskinetic Gaits | e68 | ||
| Steppage Gait | e69 | ||
| Hip Weakness Gait | e69 | ||
| Gait Apraxia | e69 | ||
| Antalgic Gait (Painful Gait) | e69 | ||
| Conversion Reaction Gait | e69 | ||
| Chapter 6: Vision Loss | e71 | ||
| Visual Development | e71 | ||
| Assessment and Quantification of Visual Acuity | e71 | ||
| Vision Assessment in Infancy | e71 | ||
| Vision Assessment in Children | e72 | ||
| Assessment of Color Vision | e72 | ||
| Assessment of Visual Fields | e73 | ||
| Assessment of Ocular Motility | e73 | ||
| Clinical Features Associated with Vision Loss | e73 | ||
| Examination of Children with Vision Loss | e75 | ||
| Vision Loss in Infants | e75 | ||
| Clinical Manifestations | e75 | ||
| Differential Diagnosis of Vision Loss in Infants | e75 | ||
| Structural Anomalies | e76 | ||
| Retinopathy of prematurity | e76 | ||
| Congenital cataracts | e76 | ||
| Corneal opacity | e76 | ||
| Ocular coloboma | e77 | ||
| Congenital glaucoma | e77 | ||
| Retinal dysplasia | e77 | ||
| Optic nerve hypoplasia | e78 | ||
| Aniridia | e78 | ||
| Ocular or oculocutaneous albinism | e78 | ||
| Leber's congenital amaurosis | e78 | ||
| Vision Loss Due to Cortical Visual Impairment | e79 | ||
| Structural Cerebral Anomalies Causing Cortical Visual Impairment | e80 | ||
| Hydrocephalus | e80 | ||
| Structural brain anomalies | e80 | ||
| Vision loss due to epilepsy | e80 | ||
| Delayed visual maturation | e80 | ||
| Diagnostic Evaluation of Infants with Poor Vision | e80 | ||
| Vision Loss in Children | e81 | ||
| Symptoms and Signs of Vision Loss | e81 | ||
| Differential Diagnosis of Vision Loss in Children | e81 | ||
| Amblyopia | e81 | ||
| Ocular Anomalies Causing Vision Loss | e81 | ||
| Eyelid abnormalities: ptosis | e81 | ||
| Corneal anomalies | e82 | ||
| Anomalies of the iris | e82 | ||
| Anomalies of the retina | e82 | ||
| Retinitis pigmentosa | e82 | ||
| Neurometabolic retinal dysfunction | e82 | ||
| Optic Nerve Disorders | e83 | ||
| Papilledema | e83 | ||
| Pseudopapilledema | e83 | ||
| Optic neuritis | e84 | ||
| Optic atrophy | e84 | ||
| Cerebral Vision Impairment | e85 | ||
| Nystagmus in Infancy | e86 | ||
| Nystagmus Caused by Visual Deprivation | e86 | ||
| Nystagmus Due to Cerebral Disease | e86 | ||
| Congenital Motor Nystagmus | e86 | ||
| Transient Episodic Vision Loss in Children | e86 | ||
| Chapter 7: Hearing Impairment | e89 | ||
| Anatomy and Physiology of the Ear and Auditory System | e89 | ||
| Embryology and Anatomy | e89 | ||
| The external ear | e89 | ||
| The middle ear | e89 | ||
| The inner ear | e89 | ||
| Central auditory pathway | e91 | ||
| Physiology | e92 | ||
| Classification of Hearing Losses | e93 | ||
| Classification of Hearing Loss by Clinical Features | e93 | ||
| Unilateral Hearing Loss | e93 | ||
| Conductive Hearing Loss | e93 | ||
| Sensorineural (Endocochlear) Hearing Loss | e93 | ||
| Sensory hearing loss | e94 | ||
| Hearing loss due to pathology in spiral ganglion neurons: ``auditory neuropathy´´ | e94 | ||
| Central Auditory (Retrocochlear) Hearing Loss | e95 | ||
| Brainstem hearing loss | e95 | ||
| Cortical deafness | e95 | ||
| Classification by Severity and Shape of Hearing Loss | e95 | ||
| Classification by Age at Onset of the Hearing Loss | e96 | ||
| Classification by the Course of the Hearing Loss | e96 | ||
| Syndromic Versus Nonsyndromic Hearing Loss | e96 | ||
| Pathology | e98 | ||
| Etiology | e98 | ||
| Genetic Causes | e99 | ||
| Syndromic Genetic Hearing Loss | e99 | ||
| Nonsyndromic Genetic Hearing Loss | e101 | ||
| Malformations | e101 | ||
| Acquired Causes | e102 | ||
| Middle Ear Effusion | e102 | ||
| Congenital Infections | e102 | ||
| Prematurity | e103 | ||
| Neonatal Hyperbilirubinemia | e103 | ||
| Acquired Infections | e103 | ||
| Ototoxicity | e103 | ||
| Trauma | e103 | ||
| Neoplasms | e104 | ||
| Clinical Evaluation and Laboratory Tests | e104 | ||
| Patient and Family Histories | e104 | ||
| Physical, Developmental, and Otolaryngologic Evaluations | e104 | ||
| Screening in Neonates and Infants | e104 | ||
| Assessments of Vestibular Function and Vision | e105 | ||
| Types of Hearing Tests | e105 | ||
| Behavioral hearing tests | e106 | ||
| Behavioral Tests of Conductive Hearing | e106 | ||
| Office Behavioral Screening Tests | e106 | ||
| Formal behavioral audiometry | e106 | ||
| Behavioral Tests of Central Auditory Function | e107 | ||
| Electrophysiologic hearing tests | e107 | ||
| Acoustic Immittance and Middle Ear Reflexes | e107 | ||
| Otoacoustic Emissions (OAEs) | e108 | ||
| Electrocochleography and Cochlear Potentials | e108 | ||
| Brainstem Auditory-Evoked Responses/Auditory Brainstem Responses (BAER/ABR) | e109 | ||
| Subcortical and Cortical Tests | e110 | ||
| Imaging of the Ear | e110 | ||
| Miscellaneous Blood, Urine, and Other Tests | e110 | ||
| Genetic Testing and Counseling | e111 | ||
| Psychologic Evaluation | e111 | ||
| Brain, Language, and Intellectual Consequences of Auditory Deprivation | e112 | ||
| Management | e113 | ||
| Amplification and Hearing Aids | e113 | ||
| Cochlear Implants | e113 | ||
| Reconstructive Surgery | e114 | ||
| Education | e114 | ||
| Genetic Counseling in Hearing Loss | e116 | ||
| Outcome | e116 | ||
| Consequences of Hearing Loss for Overall Development | e116 | ||
| Acknowledgments | e117 | ||
| Conflicts of Interest | e117 | ||
| Chapter 8: Vertigo | e118 | ||
| Introduction | e118 | ||
| Physiologic Basis of Balance | e118 | ||
| Evaluation of Patients with Dizziness | e118 | ||
| History | e119 | ||
| Chief Complaint | e119 | ||
| Physical Examination | e119 | ||
| Videonystagmography | e119 | ||
| Caloric Testing | e121 | ||
| Rotational Testing | e121 | ||
| Computerized Dynamic Platform Posturography | e122 | ||
| Posturography and Vestibular Disorders - Results from the Medical Literature | e122 | ||
| Vestibular-Evoked Myogenic Potentials | e122 | ||
| Disorders Producing Vertigo | e123 | ||
| Acute Nonrecurring Spontaneous Vertigo | e123 | ||
| Head Trauma | e123 | ||
| Vestibular Neuritis | e123 | ||
| Recurrent Vertigo | e123 | ||
| Migraine-Related Dizziness | e124 | ||
| Ménière's Disease | e124 | ||
| Seizure Disorders | e124 | ||
| Familial Periodic Ataxia | e124 | ||
| Nonvertiginous Dysequilibrium | e124 | ||
| Bilateral Peripheral Vestibular Loss | e124 | ||
| Central Nervous System Disorders | e124 | ||
| Drug-Induced Dizziness | e125 | ||
| Non-Neurotologic Disorders | e125 | ||
| Chapter 9: Taste and Smell | e126 | ||
| Chemical Senses | e126 | ||
| Taste, Smell, and Flavor | e126 | ||
| Clinical Disorders of Taste and Smell | e127 | ||
| The Ontogeny of Taste Perception and Preferences | e131 | ||
| Fetus and Preterm Infants | e131 | ||
| Newborns, Infants, and Young Children | e132 | ||
| Sweet Taste | e132 | ||
| Umami Taste | e133 | ||
| Sour Taste | e133 | ||
| Bitter Taste | e133 | ||
| Salty Taste | e134 | ||
| Early Experiences and Preferences for Salt Taste during Childhood and Adolescence | e134 | ||
| Clinical Significance | e135 | ||
| The Ontogeny of Olfactory and Flavor Perception | e135 | ||
| Fetus | e136 | ||
| Newborn | e136 | ||
| Infants and Retronasal Perception of Flavors | e137 | ||
| Young Children | e137 | ||
| Clinical Significance of Olfaction | e138 | ||
| Summary | e139 | ||
| Acknowledgments | e139 | ||
| Part II: Neurodiagnostic Testing | 2 | ||
| Chapter 10: Spinal Fluid Examination | e140 | ||
| History | e140 | ||
| Cerebrospinal Fluid Formation, Flow, and Absorption | e140 | ||
| Cerebrospinal Fluid Function | e143 | ||
| Diagnostic Sampling of Cerebrospinal Fluid | e143 | ||
| Indications | e143 | ||
| Contraindications and Cautions | e143 | ||
| Procedure | e143 | ||
| Complications | e145 | ||
| Cerebrospinal Fluid Analysis | e146 | ||
| Appearance | e146 | ||
| Cells | e146 | ||
| Microorganisms | e147 | ||
| Glucose | e147 | ||
| Protein | e148 | ||
| Immunologic Analysis | e149 | ||
| Neurometabolic Studies | e150 | ||
| Chapter 11: Pediatric Neuroimaging | e151 | ||
| Cranial Ultrasound | e151 | ||
| Computed Tomography | e154 | ||
| Magnetic Resonance Imaging | e157 | ||
| Magnetic Resonance Spectroscopy | e166 | ||
| Spectral Metabolites Using Proton Magnetic Resonance Spectroscopy | e167 | ||
| Diseases Studied with Proton Magnetic Resonance Spectroscopy | e167 | ||
| Diffusion-Weighted Imaging | e170 | ||
| Diffusion Tensor Imaging | e173 | ||
| Perfusion Magnetic Resonance Imaging | e177 | ||
| Susceptibility-Weighted Imaging | e178 | ||
| Functional Magnetic Resonance Imaging | e178 | ||
| Magnetic Source Imaging | e181 | ||
| Spinal Imaging | e182 | ||
| Angiography | e182 | ||
| Single-Photon Emission Computed Tomography and Positron Emission Tomography | e183 | ||
| Acknowledgment | e184 | ||
| Chapter 12: Pediatric Neurophysiologic Evaluation | e185 | ||
| Utility of Pediatric Neurophysiological Studies | e185 | ||
| Training in Clinical Neurophysiology | e186 | ||
| Instrumentation and Recording Techniques | e186 | ||
| Polarity Localization | e186 | ||
| Instrumental Control Settings | e187 | ||
| Sensitivity Settings | e187 | ||
| Filter Settings | e187 | ||
| Paper Speed | e187 | ||
| Physiologic Noncerebral Channels | e187 | ||
| Artifact Recognition | e187 | ||
| Recording Setting | e187 | ||
| Neurophysiological Basis for Electroencephalography | e189 | ||
| Potential Fields and Neuronal Networks | e192 | ||
| Neurophysiologic Basis of Abnormal Electrical Patterns | e192 | ||
| Abnormal Suppression or Slowing of Electroencephalographic Activity | e193 | ||
| Significance of Normal Variation in Electroencephalography: Maturational Patterns | e195 | ||
| Guidelines for Interpretation | e195 | ||
| Newborn Electroencephalographic Patterns | e195 | ||
| Ontogeny of Electroencephalographic Features | e195 | ||
| Gestational Age of Younger than 28 Weeks | e196 | ||
| Gestational Age of 28-31 Weeks | e200 | ||
| Gestational Age of 32-34 Weeks | e201 | ||
| Gestational Age of 34-37 Weeks | e201 | ||
| Gestational Age of 38-42 Weeks | e202 | ||
| Normal Electroencephalographic Patterns in Infancy through Adolescence | e203 | ||
| Waking Patterns | e203 | ||
| Mu Rhythm | e204 | ||
| Beta Activity | e204 | ||
| Theta and Delta Slowing | e204 | ||
| Lambda Waves | e205 | ||
| Hyperventilatory Response | e205 | ||
| Photic Stimulation | e205 | ||
| Drowsy Patterns | e206 | ||
| Sleep-Activation Procedures | e206 | ||
| Sleep Patterns | e207 | ||
| Electroencephalographic Neonatal Sleep as an Ultradian Rhythm | e207 | ||
| Infant and Childhood Sleep | e208 | ||
| Vertex Waves and Sleep Spindles | e208 | ||
| Occipital Sharp Transients | e209 | ||
| Frequency Distribution during Sleep | e209 | ||
| Arousal Patterns | e209 | ||
| Patterns of Uncertain Significance | e209 | ||
| Abnormal Electroencephalographic Patterns | e210 | ||
| Abnormal Neonatal Electroencephalographic Patterns | e210 | ||
| Assessment of Prognosis | e211 | ||
| Focal Abnormalities | e211 | ||
| Neonatal Seizures | e213 | ||
| Focal Periodic Patterns | e215 | ||
| Spikes and Sharp Waves | e216 | ||
| Epileptiform Abnormalities | e216 | ||
| Generalized Epileptiform Patterns | e217 | ||
| Spike-and-wave patterns | e217 | ||
| Sharp-wave and slow-wave complexes | e218 | ||
| Hypsarrhythmia | e218 | ||
| Generalized periodic discharges | e219 | ||
| Secondary bilateral synchrony | e219 | ||
| Focal Epileptiform Patterns | e219 | ||
| Rolandic spikes | e219 | ||
| Occipital spikes | e220 | ||
| Other Idiopathic Partial Epilepsies of Childhood | e220 | ||
| Temporal Spikes and Sharp Waves | e220 | ||
| Multiple Independent Spike Foci | e221 | ||
| Spike Discharges Associated with Specific Neurologic Conditions | e221 | ||
| Periodic Discharges | e221 | ||
| Abnormal Nonepileptiform Patterns | e222 | ||
| Role of Pediatric Electroencephalography in Specific Neurologic Situations | e222 | ||
| Febrile Seizures | e222 | ||
| Head Trauma | e223 | ||
| Headaches | e223 | ||
| Prognosis after Hypoxic-Ischemic Insults | e223 | ||
| Determination of Brain Death | e223 | ||
| Central Nervous System Infections | e224 | ||
| Degenerative Diseases | e224 | ||
| Reye´s Syndrome | e225 | ||
| Nonepileptic Paroxysmal Disorders | e225 | ||
| Monitoring Strategies and Computer Analyses of Electrographic Data | e226 | ||
| Synchronized Video-Electroencephalographic Recordings | e226 | ||
| Pediatric Neurointensive Care | e226 | ||
| Electroencephalography and Functional Neuroimaging | e227 | ||
| Magnetoencephalography | e227 | ||
| Computer Strategies for Electroencephalographic Sleep Analyses | e227 | ||
| Evoked Potential Analysis | e228 | ||
| Auditory-Evoked Potentials | e229 | ||
| Visual-Evoked Responses | e231 | ||
| Electroretinography | e231 | ||
| Somatosensory-Evoked Potentials | e232 | ||
| Event-Related Potentials | e233 | ||
| Part III: Neurodiagnostic Testing | 3 | ||
| Chapter 13: Brain Plasticity and its Disorders | 3 | ||
| Introduction | 3 | ||
| Basic Mechanisms for Plasticity in the Developing Brain | 5 | ||
| Mechanisms of Synaptic Plasticity | 5 | ||
| Plasticity of Dendrites and Dendritic Spines | 7 | ||
| Intracellular Signaling Cascades and Gene Transcription | 8 | ||
| Adaptive Plasticity | 8 | ||
| Plasticity and Epilepsy in Children | 9 | ||
| Plasticity in Older Children and Adults | 10 | ||
| Facilitating Adaptive Plasticity with Therapy Programs | 10 | ||
| Brain Stimulation and Adaptive Plasticity | 10 | ||
| Impaired Plasticity due to Genetic or Acquired Disorders | 11 | ||
| Impaired Plasticity in Fragile X and Rett's Syndromes | 11 | ||
| Summary and Conclusion | 12 | ||
| Chapter 14: Neurodegeneration in the Neonatal Brain | 13 | ||
| Introduction | 13 | ||
| Types of Cell Death | 13 | ||
| Necrosis | 14 | ||
| Apoptosis | 16 | ||
| Autophagy | 17 | ||
| Molecular and Cellular Regulation of Apoptosis | 17 | ||
| Bcl-2 Family of Survival and Death Proteins | 18 | ||
| Caspases: Cell Demolition Proteases | 19 | ||
| Inhibitor of Apoptosis Protein Family | 20 | ||
| Apoptosis Inducing Factor | 21 | ||
| Cell Surface Death Receptors | 21 | ||
| p53 Family of Tumor Suppressors | 21 | ||
| Excitotoxic Cell Death | 22 | ||
| The Cell Death Continuum | 23 | ||
| Programmed Cell Necrosis | 25 | ||
| The Cell Death Matrix | 26 | ||
| Effects of Hypothermia on Neuronal Cell Death Following HIE | 26 | ||
| Conclusion | 27 | ||
| Dedication | 28 | ||
| Acknowledgments | 28 | ||
| Chapter 15: Neuroinflammation | 29 | ||
| Introduction | 29 | ||
| Inflammation and the developing brain | 29 | ||
| Perinatal Brain Damage | 29 | ||
| Systemic Inflammation and Perinatal Brain Damage | 29 | ||
| Sensitizing Effect | 29 | ||
| Disruption of Brain Programming | 29 | ||
| Blood-Brain Barrier | 30 | ||
| Crosstalk between the Periphery and the CNS | 30 | ||
| Glial Cells | 30 | ||
| Individual Inflammatory and Cell Signaling Molecules | 31 | ||
| Cytokines and Chemokines | 31 | ||
| Intracellular Reactive Oxidant Metabolism | 31 | ||
| Intracellular Inflammatory Signaling Pathways | 32 | ||
| Anti-Inflammatory Strategies and Neuroprotection | 32 | ||
| Conclusions and Areas of Future Development | 32 | ||
| Part IV: Perinatal Acquired and Congenital Neurologic Disorders | 33 | ||
| Chapter 16: Neonatal Seizures | 33 | ||
| Epidemiology | 33 | ||
| Pathophysiology | 34 | ||
| Enhanced Excitability of the Neonatal Brain | 34 | ||
| Decreased Efficacy of Inhibitory Neurotransmission in the Immature Brain | 36 | ||
| Ion Channel Configuration Favors Depolarization in Early Life | 36 | ||
| A Role for Neuropeptides in the Hyperexcitability of the Immature Brain | 36 | ||
| Enhanced Potential for Inflammatory Response to Seizures in the Immature Brain | 36 | ||
| Selective Neuronal Injury in the Developing Brain | 37 | ||
| Seizure-Induced Neuronal Network Dysfunction: Potential Interaction Between Epileptogenesis and Development of Neurocognitive D | 37 | ||
| Diagnosis | 37 | ||
| Etiology | 38 | ||
| Acute Metabolic Abnormalities | 39 | ||
| Rare Inborn Errors of Metabolism and Genetic Disorders | 40 | ||
| Benign Familial Neonatal Convulsions | 41 | ||
| Infection | 41 | ||
| Hypoxic-Ischemic Encephalopathy | 41 | ||
| Cerebrovascular Disorders | 41 | ||
| Congenital Heart Disease | 41 | ||
| Developmental Disorders | 41 | ||
| Treatment | 42 | ||
| Metabolic Therapies | 43 | ||
| Chronic Therapy | 43 | ||
| The Interaction Between Anticonvulsants and the Developing Brain | 43 | ||
| Prognosis | 44 | ||
| Future Directions | 45 | ||
| New Therapeutic Targets | 45 | ||
| Chapter 17: Hypoxic-Ischemic Brain Injury in the Term Newborn | 47 | ||
| Scope of the Problem | 47 | ||
| Etiology of Brain Injury in the Term Newborn | 47 | ||
| Clinical Syndromes and Natural History | 47 | ||
| Clinical Syndromes | 47 | ||
| Neonatal Encephalopathy | 47 | ||
| Subtle Neonatal Syndromes | 49 | ||
| Management of Neonatal Encephalopathy | 49 | ||
| Clinical Management | 49 | ||
| Brain Imaging of Newborns with Encephalopathy | 49 | ||
| Advanced MR Techniques | 50 | ||
| Magnetic resonance spectroscopy imaging | 50 | ||
| Diffusion imaging | 50 | ||
| Patterns of Brain Injury | 50 | ||
| Progression of Neonatal Brain Injury | 51 | ||
| Outcomes | 51 | ||
| Motor Function | 51 | ||
| Vision and Hearing | 52 | ||
| Cognition | 52 | ||
| Brain Imaging and Outcome | 52 | ||
| Pathophysiology of Neonatal Hypoxic-Ischemic Brain Injury | 52 | ||
| Cerebral Blood Flow and Energy Metabolism | 53 | ||
| Excitotoxicity | 53 | ||
| Oxidative Stress | 54 | ||
| Inflammation | 55 | ||
| Apoptosis | 56 | ||
| Brain Protection | 56 | ||
| Neuroprotection | 56 | ||
| Neurotrophic Factors | 57 | ||
| Stem Cells | 58 | ||
| Future Directions | 58 | ||
| Conclusions | 58 | ||
| Chapter 18: Neonatal Brain Injury | 59 | ||
| Perinatal Arterial Ischemic Stroke | 59 | ||
| Definitions and Epidemiology | 59 | ||
| Pathophysiology and Risk Factors | 60 | ||
| Maternal Risk Factors | 60 | ||
| Antepartum Risk Factors | 60 | ||
| Intrapartum Risk Factors | 60 | ||
| Postnatal Risk Factors | 60 | ||
| Prothrombotic risk factors | 60 | ||
| Other neonatal risk factors | 61 | ||
| Pais in the preterm infant | 61 | ||
| Perinatal Hemorrhagic Stroke | 61 | ||
| Clinical Presentation and Diagnosis | 61 | ||
| Imaging | 61 | ||
| Management/Treatment | 62 | ||
| Acute Period | 62 | ||
| Outcomes | 63 | ||
| Motor Effects | 63 | ||
| Sensory Deficits | 64 | ||
| Cognitive Effects | 64 | ||
| Epilepsy | 64 | ||
| Recurrence | 64 | ||
| Predictors of Outcomes | 64 | ||
| Vascular territory | 64 | ||
| Neonatal seizures and early electroencephalogram | 65 | ||
| Prothrombotic coagulation factors | 65 | ||
| Rehabilitation | 65 | ||
| Neonatal Cerebral Sinovenous Thrombosis | 65 | ||
| Epidemiology | 65 | ||
| Pathophysiology and Risk Factors | 65 | ||
| Clinical Presentation and Diagnosis | 66 | ||
| Management/Treatment | 66 | ||
| Outcomes | 67 | ||
| Motor Effects | 67 | ||
| Cognitive Effects | 67 | ||
| Epilepsy | 67 | ||
| Rehabilitation | 67 | ||
| Perinatal Birth Trauma | 67 | ||
| Definition and Epidemiology | 67 | ||
| Risk Factors | 67 | ||
| Clinical Presentation and Management by Diagnosis | 68 | ||
| Extracranial Injury | 68 | ||
| Cranial Injuries | 69 | ||
| Intracranial Injuries | 69 | ||
| Pathogenesis | 69 | ||
| Epidural hematomas | 70 | ||
| Subdural hematomas | 71 | ||
| Subarachnoid hemorrhage | 73 | ||
| Cranial Nerve Injuries | 74 | ||
| Spinal Cord Injuries | 74 | ||
| Brachial Plexus Injury | 75 | ||
| Chapter 19: Injury to the Developing Preterm Brain | 77 | ||
| Introduction | 77 | ||
| Intraventricular Hemorrhage | 77 | ||
| Pathophysiology | 78 | ||
| Intraventricular Hemorrhage is a Complex Disorder | 78 | ||
| Anatomic Factors are Permissive for Hemorrhage | 79 | ||
| Alterations in Cerebral Blood Flow Contribute to IVH | 80 | ||
| Candidate Genes for IVH | 81 | ||
| Thrombophilia and coagulation genes | 81 | ||
| Mutations in vascular stability genes | 82 | ||
| Mutations in proinflammatory cytokines | 82 | ||
| Neuropathology | 82 | ||
| Neuroimaging | 83 | ||
| Intraventricular Hemorrhage | 83 | ||
| Intraparenchymal Echodensities | 83 | ||
| Porencephaly | 84 | ||
| Clinical Findings | 84 | ||
| Incidence | 84 | ||
| Timing of IVH | 84 | ||
| Clinical Manifestations | 86 | ||
| Cerebrospinal Fluid Studies | 86 | ||
| Neonatal Outcome | 86 | ||
| Posthemorrhagic hydrocephalus | 86 | ||
| Long-Term Outcome | 88 | ||
| Cerebral Palsy | 88 | ||
| Cognitive Outcome in Neonates with Intraventricular Hemorrhage | 88 | ||
| Alterations in Brain Development | 88 | ||
| Prevention of Intraventricular Hemorrhage | 89 | ||
| Environmental Prevention Strategies | 89 | ||
| Pharmacologic Prevention | 89 | ||
| Antenatal corticosteroid exposure | 89 | ||
| Indomethacin | 89 | ||
| Activated factor VII | 90 | ||
| Erythropoietin | 90 | ||
| Other pharmacologic prevention strategies | 90 | ||
| Combined Environmental and Pharmacologic Strategies | 90 | ||
| Cerebellar Hemorrhage | 91 | ||
| White Matter Injury of the Premature Newborn | 91 | ||
| Neuropathology | 91 | ||
| Pathogenesis | 92 | ||
| Hypoxia-Ischemia | 92 | ||
| Inflammation/Infection | 93 | ||
| Vulnerability of Immature White Matter, Particularly Immature Oligodendrocytes | 93 | ||
| Additional Risk Factors | 94 | ||
| Intraventricular hemorrhage | 94 | ||
| Postnatal corticosteroid use | 94 | ||
| Nutrition | 94 | ||
| Clinical and EEG Findings | 94 | ||
| Neuroimaging | 95 | ||
| Ultrasound | 95 | ||
| Magnetic Resonance Imaging | 96 | ||
| Recommendations for Imaging the Preterm Neonate and Child Born Preterm | 97 | ||
| Outcome | 97 | ||
| Cognitive | 98 | ||
| Social/Behavioral | 98 | ||
| Motor | 98 | ||
| Visual | 99 | ||
| Epilepsy | 99 | ||
| Prevention | 99 | ||
| Acknowledgments | 99 | ||
| Chapter 20: Perinatal Metabolic Encephalopathies | 100 | ||
| Introduction | 100 | ||
| General Approach | 100 | ||
| Correctable Disturbances of Glucose and Salt Balance | 103 | ||
| Hypoglycemia | 103 | ||
| Disturbances of Sodium Balance | 104 | ||
| Hyponatremia | 105 | ||
| Hypernatremia | 105 | ||
| Inborn Errors of Metabolism | 106 | ||
| Acute Fulminant Metabolic Diseases | 107 | ||
| Maple Syrup Urine Disease | 107 | ||
| Organic Acidopathies due to Defects in Branched Chain Amino Acid Metabolism | 109 | ||
| Primary Lactic Acidosis due to Defects in Oxidative Phosphorylation | 110 | ||
| Glutamine Synthetase Deficiency | 112 | ||
| Fructose-1,6-Biphosphatase Deficiency | 112 | ||
| Fatty Acid Oxidation Defects | 112 | ||
| Urea Cycle Disorders | 113 | ||
| Subacute Epileptic Encephalopathies | 113 | ||
| Glycine Cleavage Defects | 113 | ||
| Pyridoxine and Pyridoxal Phosphate Dependency Epileptic Encephalopathies | 114 | ||
| Sulfite Oxidase and Molybdenum Co-factor Deficiency | 115 | ||
| Menkes' disease | 116 | ||
| Glucose Transporter Defects | 116 | ||
| Serine Biosynthesis Defects | 117 | ||
| Purine Biosynthesis Defects | 117 | ||
| l-Amino Acid Decarboxylase Deficiency | 117 | ||
| Chronic Encephalopathies without Multi-Organ Involvement | 118 | ||
| Hyperphenylalaninemia | 118 | ||
| Succinic Semialdehyde Dehydrogenase Deficiency | 118 | ||
| Glutaric Aciduria | 118 | ||
| Chronic Encephalopathies with Multi-Organ Involvement | 119 | ||
| Congenital Disorders of Glycosylation | 119 | ||
| Peroxisomal Disorders | 119 | ||
| Cholesterol Biosynthesis Defects (Smith-Lemli-Opitz Syndrome) | 119 | ||
| Part V: Congenital Structural Defects | 120 | ||
| Chapter 21: Overview of Disorders of Brain Development | 120 | ||
| Introduction | 120 | ||
| Epidemiology | 120 | ||
| Classification | 120 | ||
| Brain Imaging Recognition | 121 | ||
| Relationships to Other Neurologic Disorders | 122 | ||
| Relationship to Environmental Factors | 122 | ||
| Genetic Counseling | 123 | ||
| Chapter 22: Disorders of Neural Tube Development | 125 | ||
| Introduction | 125 | ||
| Anatomy and Embryology | 125 | ||
| Formation of the Neural Tube | 125 | ||
| Molecular Patterning of the Neural Tube | 127 | ||
| Epidemiology and Pathogenesis | 128 | ||
| Incidence | 128 | ||
| Complex Genetic Contributions | 128 | ||
| Gene-Environment Interactions Influencing Neural Tube Defects | 129 | ||
| Gene-Diet Interactions in Neural Tube Defects: Role of Metabolism of Folic Acid and Other Nutrients | 129 | ||
| Teratogens | 130 | ||
| Classification of Neural Tube Defects | 130 | ||
| Nomenclature | 130 | ||
| Embryologic Classification of Neural Tube Defects | 131 | ||
| Myelomeningocele | 131 | ||
| Antenatal Diagnosis | 131 | ||
| Prevention | 132 | ||
| Clinical Features | 133 | ||
| Secondary Abnormalities | 133 | ||
| Central Nervous System Complications | 133 | ||
| Bladder and Bowel Dysfunction | 133 | ||
| Orthopedic Problems | 133 | ||
| Chiari II Malformation | 134 | ||
| Classification | 134 | ||
| Pathophysiology | 134 | ||
| Clinical features | 135 | ||
| Management | 135 | ||
| Fetal Repair of Myelomeningocele | 135 | ||
| Management in the Newborn Period | 135 | ||
| Treatment of Chiari II Malformation | 136 | ||
| Outcome | 136 | ||
| Counseling | 137 | ||
| Anencephaly | 137 | ||
| Pathogenesis | 137 | ||
| Differential Diagnosis | 137 | ||
| Pathology | 137 | ||
| Encephalocele | 137 | ||
| Etiology | 138 | ||
| Clinical Characteristics | 138 | ||
| Management | 139 | ||
| Occult Forms of Spinal Dysraphism | 139 | ||
| Spinal Cord Lipoma | 140 | ||
| Dermal Sinus Tract | 140 | ||
| Spina Bifida Occulta | 140 | ||
| Meningocele | 140 | ||
| Split Cord Malformations | 141 | ||
| Embryology | 141 | ||
| Clinical Characteristics | 142 | ||
| Disorders of Secondary Neurulation | 142 | ||
| Fibrofatty Filum Terminale | 142 | ||
| Sacral Agenesis | 142 | ||
| Chapter 23: Disorders of Forebrain Development | 145 | ||
| Introduction | 145 | ||
| Prosencephalon Patterning | 145 | ||
| Prosencephalic Cleavage | 145 | ||
| Holoprosencephaly | 145 | ||
| Historical Background | 145 | ||
| Epidemiology | 146 | ||
| Definition and Subtypes of Holoprosencephaly | 146 | ||
| Neuropathological Findings | 148 | ||
| Etiology | 148 | ||
| Clinical Manifestations and Outcomes | 149 | ||
| Management | 150 | ||
| Prenatal Diagnosis and Imaging | 150 | ||
| Genetic Counseling and Testing | 150 | ||
| Agenesis of the Corpus Callosum | 150 | ||
| Historical Background | 150 | ||
| Epidemiology | 152 | ||
| Prenatal Diagnosis and Prediction of Outcomes | 152 | ||
| Development of the Corpus Callosum | 152 | ||
| Imaging and the Corpus Callosum | 153 | ||
| Etiology | 155 | ||
| Genetic | 155 | ||
| Nongenetic | 157 | ||
| Clinical Manifestations | 157 | ||
| Association of Agenesis of the Corpus Callosum with Autism and Related Neurodevelopmental Disorders | 157 | ||
| Management | 157 | ||
| Septo-Optic Dysplasia | 157 | ||
| Definition and Subtypes | 158 | ||
| Epidemiology | 158 | ||
| Etiology | 158 | ||
| Clinical Manifestations | 158 | ||
| Management | 158 | ||
| Isolated Septum Pellucidum Dysplasias | 158 | ||
| Absence of the Septum Pellucidum | 158 | ||
| Cavum Septum Pellucidum | 159 | ||
| Chapter 24: Disorders of Cerebellar and Brainstem Development | 160 | ||
| Chiari I Malformation | 160 | ||
| Pathophysiology | 160 | ||
| Clinical Characteristics | 160 | ||
| Management | 160 | ||
| Cerebellar Hypoplasia | 161 | ||
| Pathophysiology | 162 | ||
| Clinical Characteristics | 162 | ||
| Differential Diagnosis | 162 | ||
| Management | 163 | ||
| Joubert's Syndrome and Related Disorders | 163 | ||
| Clinical Characteristics | 163 | ||
| Pathophysiology | 163 | ||
| Differential Diagnosis | 164 | ||
| Management | 164 | ||
| Dandy-Walker Malformation | 165 | ||
| Clinical Characteristics | 165 | ||
| Pathophysiology | 165 | ||
| Differential Diagnosis | 165 | ||
| Management | 165 | ||
| Pontocerebellar Hypoplasia | 166 | ||
| Clinical Characteristics | 166 | ||
| Pathophysiology | 166 | ||
| Differential Diagnosis | 166 | ||
| Part VI: Genetic, Metabolic, and Neurocutaneous Disorders | 277 | ||
| Chapter 30: Introduction to Genetics | 277 | ||
| Molecular Basis of Heredity | 277 | ||
| Structure and Function of DNA | 277 | ||
| Structure and Function of RNA | 279 | ||
| Ribosomal RNA | 280 | ||
| Transfer RNA | 280 | ||
| Messenger RNA | 280 | ||
| Small Nuclear RNA | 280 | ||
| Small Nucleolar RNA | 280 | ||
| MicroRNA | 280 | ||
| Structure and Function of Polypeptides and Proteins | 280 | ||
| Transcription | 281 | ||
| Translation | 281 | ||
| Gene Structure and Organization | 281 | ||
| Genes | 281 | ||
| Regulatory Regions | 282 | ||
| RNA Processing | 282 | ||
| Imprinting and X-Inactivation | 283 | ||
| Imprinting | 283 | ||
| X-Inactivation | 283 | ||
| Cell Cycle and Chromosomal Basis of Heredity | 283 | ||
| Cell Cycle | 284 | ||
| Mitosis | 284 | ||
| Meiosis | 284 | ||
| Chromosomal Basis of Heredity | 284 | ||
| Chromosome Structure | 284 | ||
| Specialized Regions | 285 | ||
| Chromosome Number | 285 | ||
| Chromosome Identification | 286 | ||
| Organization of the Human Genome | 286 | ||
| The Nuclear Genome | 286 | ||
| Genes and Conserved Noncoding DNA | 286 | ||
| Repetitive DNA | 286 | ||
| Low Copy Repeats | 287 | ||
| Polymorphisms | 287 | ||
| Minisatellites | 287 | ||
| Microsatellites | 287 | ||
| Single-Nucleotide Polymorphisms | 287 | ||
| Mitochondrial Genome | 288 | ||
| Human Genome Project | 288 | ||
| Technology of Cytogenetics | 288 | ||
| Chromosome Analysis | 288 | ||
| Fluorescence In Situ Hybridization | 289 | ||
| Chromosome Microarrays | 289 | ||
| Technology of Molecular Genetics | 290 | ||
| DNA Clones | 290 | ||
| Restriction Enzymes | 290 | ||
| Polymerase Chain Reaction | 291 | ||
| Methods of General Mutation Detection | 291 | ||
| DNA Sequence Analysis | 291 | ||
| Sanger sequencing | 291 | ||
| High-throughput sequencing | 292 | ||
| Mutation Scanning | 292 | ||
| Single-stranded conformational polymorphism | 292 | ||
| Denaturing gradient gel electrophoresis | 292 | ||
| Denaturing high-performance liquid chromatography | 293 | ||
| Protein truncation test | 293 | ||
| Southern blot analysis | 293 | ||
| Methods for Detecting Specific Sequence Changes (Genotyping) | 293 | ||
| Allele-Specific Oligonucleotide Hybridization | 293 | ||
| Single-Base Extension | 293 | ||
| DNA Arrays | 294 | ||
| Restriction Enzyme Analysis | 294 | ||
| DNA Methylation Analysis | 294 | ||
| Clinical Cytogenetics | 294 | ||
| Abnormalities of Chromosome Number | 294 | ||
| Triploidy and Tetraploidy | 294 | ||
| Aneuploidy | 294 | ||
| Abnormalities of Chromosome Structure | 295 | ||
| Mechanisms | 295 | ||
| Balanced and Unbalanced Chromosomal Rearrangements | 295 | ||
| Specific Types of Chromosome Rearrangements | 296 | ||
| Deletions and Duplications | 296 | ||
| Inversions | 296 | ||
| Reciprocal Translocations | 297 | ||
| Robertsonian Translocations | 297 | ||
| Insertions | 297 | ||
| Rings | 298 | ||
| Isochromosomes and Dicentrics | 298 | ||
| Cytogenetic Nomenclature | 298 | ||
| Mutations and Genetic Diseases | 298 | ||
| Classes of Mutations | 299 | ||
| Genome and Chromosome Mutations | 299 | ||
| Gene Mutations | 299 | ||
| DNA Replication Errors | 299 | ||
| Mutation Rate | 299 | ||
| Specific Types of Gene Mutations | 299 | ||
| Nucleotide Substitutions | 299 | ||
| Deletions, Duplications, and Insertions | 299 | ||
| Effects of Mutations on Gene Function | 300 | ||
| Missense Mutations | 300 | ||
| Nonsense (Chain Termination) Mutations | 300 | ||
| RNA Splicing Mutations | 300 | ||
| Frameshift Mutations | 300 | ||
| Transcriptional Control Mutations | 301 | ||
| Principles of Medical Genetics | 301 | ||
| Patterns of Inheritance | 301 | ||
| Autosomal-Dominant Inheritance | 302 | ||
| Autosomal-Recessive Inheritance | 302 | ||
| X-Linked Inheritance | 302 | ||
| Genomic Imprinting | 303 | ||
| Uniparental Disomy | 304 | ||
| Mosaicism | 304 | ||
| Complex Inheritance | 304 | ||
| Mitochondrial Inheritance | 304 | ||
| Genetic Counseling | 305 | ||
| Standard of Care | 305 | ||
| Responsibility to Relatives | 305 | ||
| Relevance for Pediatric Neurology | 305 | ||
| Genetic Risk | 305 | ||
| Prenatal Diagnosis | 305 | ||
| Genetics and Medicine | 306 | ||
| Chapter 31: Chromosomes and Chromosomal Abnormalities | 307 | ||
| Methods of Chromosome Analysis | 307 | ||
| Chromosome Prepraration | 307 | ||
| Chromosome Banding | 308 | ||
| Molecular Cytogenetics | 308 | ||
| Chromosomal Abnormalities | 309 | ||
| Numerical Abnormalities | 309 | ||
| Structural Abnormalities | 310 | ||
| Deletions and Duplications | 310 | ||
| Translocations | 310 | ||
| Inversions | 311 | ||
| Insertions | 311 | ||
| Marker and Ring Chromosomes | 311 | ||
| Isochromosomes | 311 | ||
| Cytogenetic Nomenclature | 311 | ||
| Incidence of Chromosomal Abnormalities | 311 | ||
| Clinical Indications for Cytogenetic Analysis | 311 | ||
| Multiple Congenital Anomalies | 312 | ||
| Developmental Delay and/or Mental Retardation | 313 | ||
| Fertility Problems | 313 | ||
| Unexplained Stillbirth/Neonatal Death | 313 | ||
| Prenatal diagnosis | 313 | ||
| Malignancy | 314 | ||
| Specific Cytogenetic Syndromes | 314 | ||
| Polyploidy | 314 | ||
| Part VII: Neurodevelopmental Disorders | 554 | ||
| Chapter 43: Global Developmental Delay and Mental Retardation/Intellectual Disability | 554 | ||
| Definitions | 554 | ||
| Epidemiology | 555 | ||
| History and Ethics | 555 | ||
| Diagnosis | 556 | ||
| Definitions and Testing | 556 | ||
| Advances in Diagnostic Testing | 561 | ||
| Genomic Microarray | 561 | ||
| Advances in Imaging | 562 | ||
| Proteomics in Disease Analysis | 563 | ||
| Etiology | 563 | ||
| General Considerations | 563 | ||
| Genetic Causes | 563 | ||
| Fragile X Syndrome | 563 | ||
| Other X-Linked Mental Retardation Conditions | 564 | ||
| Nonsyndromic Autosomal Mental Retardation | 565 | ||
| Other Etiologic Considerations | 565 | ||
| Evaluation of the Patient | 565 | ||
| History | 565 | ||
| Physical Examination | 566 | ||
| Laboratory Testing | 568 | ||
| Consultation and Follow-up | 571 | ||
| Medical Management of Coexisting Conditions | 571 | ||
| Psychiatric Disorders in the Mentally Retarded | 571 | ||
| Treatment of Psychiatric Disorders | 571 | ||
| Treatment of Epilepsy | 572 | ||
| Sleep Disorders | 572 | ||
| Vision and Hearing Impairment | 572 | ||
| Feeding and Nutritional Disorders | 572 | ||
| Pharmacologic Treatment of Cognitive Impairment | 572 | ||
| Outcome and Prognosis | 573 | ||
| Acknowledgments | 574 | ||
| Chapter 44: Cognitive and Motor Regression | 575 | ||
| Introduction | 575 | ||
| Pathophysiology | 575 | ||
| Epidemiology | 575 | ||
| Diagnostic Evaluation | 578 | ||
| Laboratory Testing | 579 | ||
| Management | 580 | ||
| Chapter 45: Developmental Language Disorders | 604 | ||
| Introduction | 604 | ||
| Pathophysiology | 604 | ||
| Factors Associated with DLD | 605 | ||
| Genetics | 606 | ||
| Diagnosis | 607 | ||
| Nosology of Developmental Language Disorders | 608 | ||
| Articulation and Expressive Fluency Disorders | 608 | ||
| Pure Articulation Disorders | 608 | ||
| Stuttering and Cluttering | 608 | ||
| Phonological Programming Disorder | 609 | ||
| Verbal Dyspraxia | 609 | ||
| Disorders of Receptive and Expressive Language | 609 | ||
| Phonological Syntactic Syndrome | 609 | ||
| Verbal Auditory Agnosia | 610 | ||
| Higher-Order Language Disorders | 610 | ||
| Semantic Pragmatic Syndrome | 610 | ||
| Lexical Syntactic Syndrome | 610 | ||
| Outcome of Developmental Language Disorders | 610 | ||
| Evaluation of the Child with Suspected DLD | 611 | ||
| Treatment | 611 | ||
| Chapter 46: Dyslexia | 613 | ||
| Definition | 613 | ||
| Epidemiology | 614 | ||
| Etiology | 614 | ||
| Cognitive Influences | 615 | ||
| Implications of the Phonologic Model of Dyslexia | 615 | ||
| Neurobiologic Studies | 615 | ||
| Neural Systems for Reading | 615 | ||
| The Reading Systems in Dyslexia in Children and Adults | 616 | ||
| Development of Reading Systems in Dyslexia | 616 | ||
| Implications of Brain Imaging Studies | 617 | ||
| Diagnosis | 617 | ||
| Assessment of Pre-reading and Reading | 618 | ||
| Physical and Neurologic Examination and Laboratory Tests | 620 | ||
| Outcome: Phonologic Deficit in Adolescence and Adult Life | 620 | ||
| Treatment | 620 | ||
| Attentional Mechanisms in Reading and Dyslexia | 621 | ||
| Accommodations | 621 | ||
| Dyslexia and the Sea of Strengths | 621 | ||
| Conclusions and Implications | 621 | ||
| Acknowledgments | 621 | ||
| Chapter 47: Attention-Deficit Hyperactivity Disorder | 622 | ||
| Diagnosis of Attention-Deficit Hyperactivity Disorder | 622 | ||
| Controversies in the Diagnosis of Attention-Deficit-Hyperactivity Disorder | 624 | ||
| Neurobiology of Attention-Deficit Hyperactivity Disorder | 624 | ||
| Structural Imaging | 625 | ||
| Cortical Structures | 625 | ||
| Subcortical Structures | 625 | ||
| Cerebellum | 625 | ||
| Functional Imaging | 625 | ||
| Clinical Neurophysiology | 626 | ||
| Genetic Studies | 626 | ||
| Other Potential Causes of Attention-Deficit Hyperactivity Disorder | 627 | ||
| Coexisting Conditions | 627 | ||
| Diagnostic Evaluation | 628 | ||
| Laboratory Studies | 628 | ||
| Electroencephalography | 628 | ||
| Sleep Studies | 628 | ||
| Imaging Studies | 628 | ||
| Treatment | 629 | ||
| Pharmacologic Therapy | 629 | ||
| Stimulant Medications | 629 | ||
| Methylphenidate | 633 | ||
| Dexmethylphenidate | 633 | ||
| Lisdexamfetamine | 634 | ||
| Dextroamphetamine | 634 | ||
| Noradrenergic Potentiation | 634 | ||
| Atomoxetine | 634 | ||
| Other agents | 634 | ||
| Nonstimulant Medications | 635 | ||
| Tricyclic Antidepressants | 635 | ||
| Desipramine | 635 | ||
| Alpha-Adrenergic Agonists | 635 | ||
| Nonpharmacologic Therapies | 635 | ||
| Biofeedback Programs | 635 | ||
| Complementary and Alternative Medications | 636 | ||
| Outcome | 636 | ||
| Conclusions | 636 | ||
| Chapter 48: Autistic Spectrum Disorders | 638 | ||
| Historical Perspective of the DSM | 638 | ||
| Clinical Features of ASD | 638 | ||
| Qualitative Impairment in Social Interactions | 638 | ||
| Qualitative Impairment in (Verbal and Nonverbal) Communication | 639 | ||
| Restricted, Repetitive, and Stereotypic Patterns of Behaviors, Interests, and Activities | 640 | ||
| Asperger's Disorder | 640 | ||
| Autistic Regression and Childhood Disintegrative Disorder | 641 | ||
| Pervasive Developmental Disorder - Not Otherwise Specified and Atypical Autism | 642 | ||
| Epidemiology | 642 | ||
| Risk Factors | 644 | ||
| Sibling Studies | 644 | ||
| Neonatal Intensive Care and Prematurity | 644 | ||
| Other Risk Factors | 645 | ||
| Pathophysiology and Etiology | 645 | ||
| Animal Models | 645 | ||
| Neuropathology | 645 | ||
| Neuroimaging | 646 | ||
| Serotonin | 646 | ||
| Vaccines | 647 | ||
| Diagnostic Evaluation and Screening | 647 | ||
| Screening and Diagnostic Instruments | 648 | ||
| Instruments for Autistic Spectrum Disorders Screening | 648 | ||
| Instruments for ASD Diagnosis | 649 | ||
| The Neurologic Evaluation in Autism | 649 | ||
| Neurologic Examination | 649 | ||
| Clinical Testing | 649 | ||
| Evaluation of Hearing | 649 | ||
| Lead Level | 650 | ||
| Electroencephalography | 650 | ||
| Metabolic Testing | 650 | ||
| Neuroimaging Studies | 650 | ||
| Tests of Unproven Value | 650 | ||
| Coexistent Medical Conditions | 650 | ||
| Feeding Disturbances and Gastrointestinal Problems | 650 | ||
| Sleep Disturbances | 651 | ||
| Epilepsy | 651 | ||
| Congenital Blindness | 652 | ||
| Known Genetic and Other Conditions associated with Autism | 652 | ||
| Fragile X Syndrome | 652 | ||
| Tuberous Sclerosis Complex | 653 | ||
| 15q Syndrome | 653 | ||
| Chromosome 22q11 Deletion Syndrome/Velocardiofacial Syndrome | 653 | ||
| Mitochondrial Disorders | 653 | ||
| Down Syndrome | 654 | ||
| Williams-Beuren Syndrome | 654 | ||
| Prader-Willi and Angelman's syndromes | 654 | ||
| Genetic Studies | 655 | ||
| Epigenetics | 655 | ||
| Genetic Counseling | 656 | ||
| Pharmacologic Therapy | 656 | ||
| Neuroleptic Agents | 656 | ||
| Opiate Antagonists | 657 | ||
| Serotonin Reuptake Inhibitors | 657 | ||
| Stimulants and Drugs to Treat Hyperactivity | 658 | ||
| Antiepileptic Drugs | 658 | ||
| Cholinesterase Inhibitors | 659 | ||
| Complementary and Alternative Medicine | 659 | ||
| Educational and Behavioral Interventions | 661 | ||
| Resources for Families | 663 | ||
| Disclaimer | 663 | ||
| Chapter 49: Neuropsychopharmacology | 664 | ||
| Introduction | 664 | ||
| Stimulants | 666 | ||
| Clinical Applications | 666 | ||
| Pharmacology | 668 | ||
| Clinical Management | 668 | ||
| Assessment | 668 | ||
| Initiating medication and dose titration | 669 | ||
| Monitoring stimulants | 669 | ||
| Adverse Effects | 670 | ||
| Drug Interactions | 671 | ||
| Nonstimulant Medications | 671 | ||
| Atomoxetine | 671 | ||
| Clinical Applications | 671 | ||
| Pharmacology | 671 | ||
| Clinical Management | 671 | ||
| Adverse Effects | 672 | ||
| Drug Interactions | 672 | ||
| Alpha2-Agonists | 672 | ||
| Clinical Applications | 672 | ||
| Pharmacology | 673 | ||
| Clinical Management | 673 | ||
| Adverse Effects | 673 | ||
| Drug Interactions | 673 | ||
| Antidepressants | 673 | ||
| Tricyclic Antidepressants | 673 | ||
| Clinical Applications | 673 | ||
| Pharmacology | 674 | ||
| Clinical Management | 675 | ||
| Assessment | 675 | ||
| Initiation and titration of tricyclic antidepressants | 675 | ||
| Adverse Effects | 675 | ||
| Drug Interactions | 676 | ||
| Selective Serotonin Reuptake Inhibitors | 676 | ||
| Clinical Applications | 676 | ||
| Pharmacology | 677 | ||
| Pharmacodynamics | 677 | ||
| Pharmacokinetics | 677 | ||
| Citalopram | 677 | ||
| Escitalopram | 677 | ||
| Fluoxetine | 677 | ||
| Fluvoxamine | 677 | ||
| Paroxetine | 678 | ||
| Sertraline | 678 | ||
| Clinical Management | 678 | ||
| Assessment | 678 | ||
| Initiation and titration of dose | 678 | ||
| Citalopram | 678 | ||
| Escitalopram | 678 | ||
| Fluoxetine | 678 | ||
| Fluvoxamine | 679 | ||
| Paroxetine | 679 | ||
| Sertraline | 679 | ||
| Adverse Effects | 679 | ||
| Common effects | 679 | ||
| Antidepressants and risk for suicidal behavior | 680 | ||
| Part VIII: Epilepsy | 703 | ||
| Chapter 50: Pediatric Epilepsy | 703 | ||
| Seizure Type and Epilepsy Syndrome | 703 | ||
| Incidence | 706 | ||
| Differential Diagnosis | 706 | ||
| Natural History of Childhood Epilepsy | 707 | ||
| Recurrence after a First Seizure | 707 | ||
| Starting Medication Treatment | 707 | ||
| Long-Term Remission | 708 | ||
| Stopping Medication | 708 | ||
| Intractability | 709 | ||
| Psychosocial Outcome for Children with Epilepsy | 709 | ||
| Mortality in Children with Epilepsy | 710 | ||
| Chapter 51: Neurophysiology of Seizures and Epilepsy | 711 | ||
| Classification of Seizures | 711 | ||
| Cellular Electrophysiology | 711 | ||
| Excitation/Inhibition Balance | 711 | ||
| Structural Correlates of Epilepsy: Hippocampus and Neocortex | 712 | ||
| Overview of Ion Channels | 712 | ||
| Voltage-Dependent Membrane Conductances | 712 | ||
| Depolarizing Conductances | 712 | ||
| Hyperpolarizing Conductances | 713 | ||
| Synaptic Physiology | 713 | ||
| Inhibitory Synaptic Transmission | 713 | ||
| Excitatory Synaptic Transmission | 715 | ||
| Abnormal Neuronal Firing | 716 | ||
| Paroxysmal Depolarization Shift | 717 | ||
| Synchronizing Mechanisms | 717 | ||
| Glial Mechanisms for Modulating Epileptogenicity | 718 | ||
| Physiology of Absence Epilepsy | 718 | ||
| Increased Seizure Susceptibility of the Immature Brain | 720 | ||
| Development of Ionic Channels and Membrane Properties | 720 | ||
| Development of Neurotransmitters, Receptors, and Transporters | 721 | ||
| Structural Maturation of the Brain and Seizure Susceptibility | 722 | ||
| Regulation of the Ionic Environment | 722 | ||
| Epileptogenesis in the Developing Brain | 722 | ||
| Antiepileptic Drug Mechanisms | 723 | ||
| Procedures for Antiepileptic Drug Testing | 723 | ||
| Antiepileptic Drug Mechanisms of Action | 723 | ||
| Summary | 726 | ||
| Chapter 52: Genetics of Epilepsy | 727 | ||
| Introduction | 727 | ||
| Epilepsies of the Neonatal Period | 727 | ||
| Benign Familial Neonatal Seizures | 727 | ||
| Benign Familial Neonatal-Infantile Seizures | 728 | ||
| Neonatal Epileptic Encephalopathies | 728 | ||
| Epilepsies of Infantile Onset | 729 | ||
| Benign Familial Infantile Seizures | 729 | ||
| Dravet's Syndrome | 729 | ||
| Generalized Epilepsy with Febrile Seizures Plus | 730 | ||
| West's Syndrome | 730 | ||
| Syndromes with Childhood Onset | 730 | ||
| Early- and Late-Onset Childhood Occipital Epilepsy | 730 | ||
| Benign Epilepsy with Centrotemporal Spikes | 731 | ||
| Childhood Absence Epilepsy | 731 | ||
| Syndromes with Adolescent or Adult Onset | 732 | ||
| Juvenile Absence Epilepsy | 732 | ||
| Juvenile Myoclonic Epilepsy | 732 | ||
| Epilepsy with Generalized Tonic-Clonic Seizures Alone | 732 | ||
| Autosomal-Dominant Nocturnal Frontal Lobe Epilepsy | 732 | ||
| Autosomal-Dominant Partial Epilepsy with Auditory Features | 733 | ||
| Familial Partial Epilepsy with Variable Foci | 734 | ||
| Other Mendelian Focal Epilepsies | 734 | ||
| Conclusion | 734 | ||
| Chapter 53: Generalized Seizures | 736 | ||
| Generalized Tonic-Clonic Seizures | 736 | ||
| Clinical Features | 736 | ||
| Differential Diagnosis | 737 | ||
| Electroencephalographic Findings | 738 | ||
| Etiology | 738 | ||
| Initial Evaluation | 738 | ||
| Comorbidities Associated with Generalized Seizures | 738 | ||
| Medical Treatment | 739 | ||
| Valproate | 739 | ||
| Lamotrigine | 739 | ||
| Levetiracetam | 740 | ||
| Topiramate | 740 | ||
| Absence Seizures | 741 | ||
| Clinical Features | 741 | ||
| Childhood Absence Epilepsy (Pyknolepsy) | 742 | ||
| Juvenile Absence Epilepsy | 742 | ||
| Epilepsy with Myoclonic Absences | 742 | ||
| Juvenile Myoclonic Epilepsy | 742 | ||
| Differential Diagnosis | 742 | ||
| Etiology | 743 | ||
| Initial Evaluation | 743 | ||
| Electroencephalographic Findings | 743 | ||
| Pathophysiology | 743 | ||
| Treatment | 746 | ||
| Prognosis | 746 | ||
| Clonic Seizures | 746 | ||
| Part IX: Nonepileptiform Paroxysmal Disorders and Disorders of Sleep | 880 | ||
| Chapter 63: Headaches in Infants and Children | 880 | ||
| Introduction | 880 | ||
| Epidemiology | 880 | ||
| Classification | 880 | ||
| Clinical Classification | 881 | ||
| Acute Headache | 881 | ||
| Acute Recurrent Headache | 881 | ||
| Chronic Progressive Headache | 882 | ||
| Chronic Nonprogressive Headache | 882 | ||
| Mixed Headache | 882 | ||
| Diagnostic Criteria | 882 | ||
| Evaluation of the Child with Headache | 883 | ||
| Primary Headache Syndromes | 883 | ||
| Migraine | 883 | ||
| Pathophysiology | 883 | ||
| Clinical Manifestations | 885 | ||
| Migraine without aura | 885 | ||
| Migraine with aura | 885 | ||
| Alice in wonderland syndrome | 886 | ||
| Retinal Migraine | 886 | ||
| Basilar-Type Migraine | 886 | ||
| Hemiplegic Migraine | 887 | ||
| Familial Hemiplegic Migraine | 887 | ||
| Alternating Hemiplegia of Childhood | 887 | ||
| Confusional Migraine | 888 | ||
| Childhood ``Periodic Syndromes´´ | 888 | ||
| Cyclical Vomiting Syndrome | 888 | ||
| Abdominal Migraine | 888 | ||
| Benign Paroxysmal Vertigo of Childhood | 888 | ||
| Benign Paroxysmal Torticollis | 889 | ||
| Management of Pediatric Migraine | 889 | ||
| Other Primary Headache Syndromes | 892 | ||
| Chronic Daily Headache | 892 | ||
| Antidepressants | 894 | ||
| Antiepileptic Drugs | 894 | ||
| Antihistamines | 894 | ||
| Beta-Blockers | 894 | ||
| Nonsteroidal Anti-Inflammatory Agents | 894 | ||
| Analgesic Agents in Chronic Daily Headache | 895 | ||
| Nonpharmacologic Measures for CDH | 895 | ||
| Tension-Type Headache | 895 | ||
| Cranial Neuralgias | 896 | ||
| Ophthalmoplegic Migraine | 896 | ||
| Cluster Headache | 896 | ||
| Paroxysmal Hemicrania | 896 | ||
| Temporomandibular Joint Dysfunction | 896 | ||
| Specific Secondary Headache Syndromes | 897 | ||
| Post-Traumatic Headache | 897 | ||
| Idiopathic Intracranial Hypertension | 897 | ||
| Intracranial Hypotension | 898 | ||
| Brain Tumor Headache | 898 | ||
| Chiari Malformation | 898 | ||
| Metabolic Causes of Headache in Children | 899 | ||
| MELAS | 899 | ||
| CADASIL | 899 | ||
| Conclusion | 899 | ||
| Chapter 64: Breath-Holding Spells and Reflex Anoxic Seizures | 900 | ||
| Breath-Holding Spells | 900 | ||
| Clinical Features | 900 | ||
| Clinical Laboratory Tests | 901 | ||
| Pathophysiology | 901 | ||
| Cyanotic Spells | 901 | ||
| Pallid Spells | 902 | ||
| Genetics | 902 | ||
| Treatment | 903 | ||
| Reflex Anoxic Seizures | 903 | ||
| Clinical Features | 903 | ||
| Pathophysiology | 903 | ||
| Clinical Laboratory Tests | 904 | ||
| Treatment | 904 | ||
| Chapter 65: Syncope and Paroxysmal Disorders Other than Epilepsy | 905 | ||
| Syncope | 905 | ||
| Epidemiology | 905 | ||
| Etiology | 905 | ||
| Cardiovascular-Mediated Syncope | 905 | ||
| Neurocardiogenic Syncope | 905 | ||
| Clinical Features | 905 | ||
| Pathophysiology | 907 | ||
| Diagnostic Evaluation | 907 | ||
| Tilt-Table Testing | 908 | ||
| Treatment | 908 | ||
| Prognosis | 909 | ||
| Convulsive Syncope | 909 | ||
| Reflex Syncope | 909 | ||
| Situational Syncope | 910 | ||
| Hyperventilation Syncope | 910 | ||
| Suffocation or Strangulation Syncope | 910 | ||
| Drug-Induced Syncope | 910 | ||
| Psychogenic Syncope | 910 | ||
| Paroxysmal Dyskinesias | 910 | ||
| Paroxysmal Kinesigenic Dyskinesia | 911 | ||
| Paroxysmal Nonkinesigenic Dyskinesia | 913 | ||
| Paroxysmal Exercise-Induced Dyskinesia | 914 | ||
| Dopa-Responsive Dystonia | 914 | ||
| Episodic Ataxias | 915 | ||
| Episodic Ataxia Type 1 | 915 | ||
| Episodic Ataxia Type 2 | 915 | ||
| Other Types of Episodic Ataxias | 916 | ||
| Childhood Periodic Syndromes | 916 | ||
| Benign Paroxysmal Vertigo | 916 | ||
| Benign Paroxysmal Torticollis of Infancy | 917 | ||
| Cyclic Vomiting Syndrome | 917 | ||
| Sandifer's Syndrome | 919 | ||
| Spasmus Nutans | 920 | ||
| Paroxysmal Tonic Upgaze of Childhood | 921 | ||
| Benign Myoclonus of Infancy | 921 | ||
| Hereditary Hyperekplexia | 922 | ||
| Shuddering Attacks | 923 | ||
| Stereotypies, Self-Stimulation, and Masturbation | 923 | ||
| Hyperventilation Syndrome in Childhood | 924 | ||
| Chapter 66: Sleep-Wake Disorders | 926 | ||
| Sleep Physiology and Ontogeny | 926 | ||
| The International Classification of Sleep Disorders | 927 | ||
| Assessment of Sleep-Wake Complaints | 927 | ||
| Sleep History | 927 | ||
| Sleep-Related Examination | 928 | ||
| Nocturnal Polysomnography | 928 | ||
| Multiple Sleep Latency Test | 929 | ||
| Maintenance of Wakefulness Test | 930 | ||
| Actigraphy | 930 | ||
| Common Childhood Sleep Disorders | 930 | ||
| Sleep-Related Breathing Disturbances | 930 | ||
| Central Hypoventilation Syndromes | 931 | ||
| Narcolepsy | 932 | ||
| Idiopathic Hypersomnia | 934 | ||
| Restless Legs Syndrome | 934 | ||
| Periodic Hypersomnia (Kleine-Levin Syndrome) | 935 | ||
| Delayed Sleep Phase Disorder | 935 | ||
| The Relationship between Sleep and Epilepsy | 935 | ||
| Sleep in Neurologically Compromised Children | 936 | ||
| Parasomnias | 937 | ||
| Autism and Sleep | 937 | ||
| Part X: Disorders of Balance and Movement | 939 | ||
| Chapter 67: The Cerebellum and the Hereditary Ataxias | 939 | ||
| Introduction | 939 | ||
| Basic Cerebellar Structure, Function, and Dysfunction | 939 | ||
| Cerebellar Structure | 939 | ||
| Cerebellar Function | 940 | ||
| Cerebellar Dysfunction | 941 | ||
| Differential Diagnosis of Ataxia | 943 | ||
| Management of Cerebellar Dysfunction and Ataxia | 943 | ||
| The Hereditary Ataxias | 945 | ||
| Autosomal-Recessive Inherited Syndromes | 945 | ||
| Friedreich's Ataxia (Freidreich's Ataxia; Spinocerebellar Ataxia - OMIM 229300) | 945 | ||
| Clinical manifestations | 946 | ||
| Pathology | 947 | ||
| Genetics | 947 | ||
| Treatment | 948 | ||
| Friedreich's Ataxia 2 (OMIM 601992) | 948 | ||
| Vitamin E Deficiency and Related Syndromes | 948 | ||
| Ataxia-Telangiectasia (AT; Louis-Bar Syndrome - OMIM 208900)* | 948 | ||
| Clinical manifestations | 949 | ||
| Laboratory findings | 949 | ||
| Pathology | 949 | ||
| Genetics | 950 | ||
| Treatment | 950 | ||
| Ataxia-Telangiectasia-Like Disorder (ATLD - OMIM 604391) | 950 | ||
| Ataxia-Oculomotor Apraxia 1 (AOA1; Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia - OMIM 208920) | 950 | ||
| Spinocerebellar Ataxia, Autosomal-Recessive 1 (SCAR1 - OMIM 606002); Ataxia-Oculomotor Apraxia 2 (AOA2) | 951 | ||
| Spinocerebellar Ataxia, Autosomal-Recessive 2 (SCAR2 - OMIM 213200); Cerebellar Hypoplasia, Nonprogressive Norman Type | 951 | ||
| Spinocerebellar Ataxia, Autosomal-Recessive 3 (SCAR3 - OMIM 271250); Spinocerebellar Ataxia with Blindness and Deafness (SCABD) | 951 | ||
| Spinocerebellar Ataxia, Autosomal-Recessive 4 (SCAR4 - OMIM 607317); Spinocerebellar Ataxia with Saccadic Intrusions (SCASI) | 951 | ||
| Spinocerebellar Ataxia, Autosomal-Recessive 5 (SCAR5 - OMIM 606937); Nonprogressive Congenital Cerebellar Ataxia with Mental Re | 951 | ||
| Spinocerebellar Ataxia, Autosomal-Recessive 6 (SCAR6 - OMIM 608029); Norwegian Nonprogressive Infantile Cerebellar Ataxia (CLA3 | 951 | ||
| Spinocerebellar Ataxia, Autosomal-Recessive 7 (SCAR7 - OMIM 609270) | 951 | ||
| Spinocerebellar Ataxia, Autosomal-Recessive 8 (SCAR8 - OMIM 610743); Cerebellar Ataxia, Autosomal-Recessive, Type 1 (ARCA1); Re | 951 | ||
| Spinocerebellar Ataxia, Autosomal-Recessive 9 (SCAR9 - OMIM 612016); Cerebellar Ataxia, Autosomal-Recessive, Type 2 (ARCA2) | 952 | ||
| Cerebellar Ataxia, Cayman Type (ATCAY - OMIM 601238) | 952 | ||
| Infantile-Onset Spinocerebellar Ataxia (IOSCA - OMIM 271245) | 952 | ||
| Ramsay Hunt Syndrome: Progressive Myoclonic Ataxia and Progressive Myoclonic Epilepsy (Baltic Myoclonus, Mediterranean Myoclonu | 952 | ||
| Other Childhood-Onset Ataxias | 952 | ||
| Autosomal-Dominant Inherited Ataxias (Spinocerebellar Ataxias) | 953 | ||
| Spinocerebellar Ataxia Type 1 (SCA1 - OMIM 164400) | 954 | ||
| Spinocerebellar Ataxia Type 2 (SCA2 - OMIM 183090) | 955 | ||
| Machado-Joseph Disease (SCA3 - OMIM 109150) | 956 | ||
| Spinocerebellar Ataxia Type 4 (OMIM 600223) | 956 | ||
| Spinocerebellar Ataxia Type 5 (OMIM 600224) | 956 | ||
| Spinocerebellar Ataxia Type 6 (SCA6 - OMIM 183086) | 957 | ||
| Spinocerebellar Ataxia Type 7 (SCA7 - OMIM 164500) | 957 | ||
| Spinocerebellar Ataxia Type 8 (SCA8 - OMIM 608768) | 958 | ||
| Spinocerebellar Ataxia Type 10 (SCA10 - OMIM 603516) | 958 | ||
| Spinocerebellar Ataxia Type 11 (SCA11 - OMIM 604432) | 959 | ||
| Spinocerebellar Ataxia Type 12 (SCA12 - OMIM 604326) | 959 | ||
| Spinocerebellar Ataxia Type 13 (SCA13 - OMIM 605259) | 959 | ||
| Spinocerebellar Ataxia Type 14 (SCA14 - OMIM 605361) | 959 | ||
| Spinocerebellar Ataxia Types 15 and 16 (SCA15 - OMIM 606658 and 606364) | 959 | ||
| Spinocerebellar Ataxia Type 17 (SCA17 - OMIM 607136) | 960 | ||
| Spinocerebellar Ataxia Type 18 (SCA18; Sensory/Motor Neuropathy with Ataxia - OMIM 607458) | 960 | ||
| Spinocerebellar Ataxia Type 19 (SCA19 - OMIM 607346) | 960 | ||
| Spinocerebellar Ataxia Type 20 (SCA20 - OMIM 608687) | 960 | ||
| Spinocerebellar Ataxia Type 21 (SCA21 - OMIM 607454) | 960 | ||
| Spinocerebellar Ataxia Type 22 (SCA22) | 960 | ||
| Spinocerebellar Ataxia Type 23 (SCA23) | 960 | ||
| Spinocerebellar Ataxia Type 25 (SCA25 - OMIM 608703) | 961 | ||
| Spinocerebellar Ataxia Type 26 (SCA26 - OMIM 609306) | 961 | ||
| Spinocerebellar Ataxia Type 27 (SCA27 - OMIM 609307); Fibroblast Growth Factor 14-SCA | 961 | ||
| Spinocerebellar Ataxia Type 28 (SCA28 - OMIM 610246) | 961 | ||
| Spinocerebellar Ataxia Type 30 (SCA30) | 961 | ||
| Spinocerebellar Ataxia Type 31 (SCA31 - OMIM 117210) | 961 | ||
| Episodic Ataxias | 961 | ||
| Dentatorubral-Pallidoluysian Atrophy (DRPLA - OMIM 125370) | 962 | ||
| Hereditary Spastic Ataxia (HSA) | 963 | ||
| Autosomal-dominant hereditary spastic ataxia (SAX1 - OMIM 108600) | 963 | ||
| Autosomal-recessive spastic ataxia of charlevoix-saguenay (ARSACS - OMIM 270550) | 963 | ||
| Spastic Paraplegia, Ataxia, and Mental Retardation (SPAR - OMIM 607565) | 963 | ||
| X-Linked Spinocerebellar Ataxia | 963 | ||
| Proposed Diagnostic Approach to the Hereditary Ataxias | 964 | ||
| Chapter 68: Movement Disorders | 965 | ||
| Introduction | 965 | ||
| Characteristic Features of Pediatric Movement Disorders | 965 | ||
| Diagnosis of Movement Disorders | 966 | ||
| The Role of the Basal Ganglia in Movement Disorders | 966 | ||
| Basal Ganglia Pathophysiology in Movement Disorders | 968 | ||
| Etiology of Movement Disorders in Children | 969 | ||
| Approach to Treatment | 970 | ||
| Classification of Childhood Movement Disorders | 970 | ||
| Chorea | 971 | ||
| Huntington's Disease | 971 | ||
| Ataxia-Telangiectasia | 971 | ||
| Other Genetic Choreas | 973 | ||
| Sydenham's Chorea | 973 | ||
| Medication-Induced Chorea | 974 | ||
| Chorea Associated with Brain Injury | 974 | ||
| Chorea Associated with Systemic Illness | 974 | ||
| Ballism | 974 | ||
| Treatment of Chorea | 974 | ||
| Dystonia | 974 | ||
| Classification | 975 | ||
| Diagnosis | 975 | ||
| Dystonic Storm | 975 | ||
| Associated Movement Disorders | 977 | ||
| Primary Dystonias | 977 | ||
| DYT-1 Dystonia | 977 | ||
| Dopa-Responsive Dystonia | 977 | ||
| Myoclonus Dystonia | 978 | ||
| Other Identified Primary Dystonias | 978 | ||
| Psychogenic Dystonia | 979 | ||
| Secondary Dystonia | 979 | ||
| Cerebral Palsy | 979 | ||
| Kernicterus | 979 | ||
| Pantothenate Kinase-Associated Neurodegeneration | 980 | ||
| Lesch-Nyhan Disease | 981 | ||
| Spinocerebellar Ataxia | 981 | ||
| Organic Acidemias | 981 | ||
| Fahr's Disease | 981 | ||
| Neuroacanthocytosis | 982 | ||
| Medication-Induced Dystonia | 982 | ||
| Other Disorders Causing Secondary Dystonia | 982 | ||
| Treatments for Dystonia | 983 | ||
| Treatment of Dyskinesia and Hyperkinetic Dystonia | 984 | ||
| Tremor | 984 | ||
| Classification of Tremor | 984 | ||
| Primary Tremor | 985 | ||
| Secondary Tremor | 986 | ||
| Treatment of Tremor | 986 | ||
| Parkinsonism | 986 | ||
| Parkinson's Disease | 987 | ||
| Secondary Parkinsonism | 987 | ||
| Treatment of Parkinsonism | 988 | ||
| Myoclonus | 988 | ||
| Classification of Myoclonus | 988 | ||
| Physiologic and Developmental Myoclonus | 988 | ||
| Essential Myoclonus | 989 | ||
| Symptomatic Myoclonus | 989 | ||
| Myoclonic Encephalopathy of Infancy (Opsoclonus-Myoclonus Syndrome) | 989 | ||
| Dyssynergia Cerebellaris Myoclonica (Ramsay-Hunt Syndrome) | 990 | ||
| Dentato-Rubral-Pallido-Luysian Atrophy | 990 | ||
| Postanoxic Myoclonus | 990 | ||
| Treatment of Myoclonus | 990 | ||
| Ataxia | 990 | ||
| Paroxysmal Dyskinesia | 992 | ||
| Paroxysmal Kinesigenic Dyskinesia | 992 | ||
| Paroxysmal Nonkinesigenic Dyskinesia | 993 | ||
| Paroxysmal Exertion-Induced Dyskinesia | 993 | ||
| Paroxysmal Hypnogenic Dyskinesia | 993 | ||
| Tic Disorders | 993 | ||
| Treatment of Tic Disorders | 994 | ||
| Stereotypy | 994 | ||
| Transient Developmental Movement Disorders | 994 | ||
| Benign Neonatal Sleep Myoclonus | 995 | ||
| Benign Myoclonus of Early Infancy | 995 | ||
| Jitteriness | 995 | ||
| Shuddering | 995 | ||
| Paroxysmal Tonic Upgaze of Infancy | 995 | ||
| Spasmus Nutans | 995 | ||
| Head Nodding | 996 | ||
| Benign Paroxysmal Torticollis | 996 | ||
| Benign Idiopathic Dystonia of Infancy | 996 | ||
| Posturing During Masturbation | 996 | ||
| Transient Tic Disorder | 997 | ||
| Tardive Movement Disorders | 997 | ||
| Symptomatology of Tardive Movement Disorders | 997 | ||
| Treatment of Tardive Movement Disorders | 997 | ||
| Other Movement Disorders | 997 | ||
| Restless Leg Syndrome and Periodic Leg Movements of Sleep | 997 | ||
| Hyperekplexia | 998 | ||
| Bobble-Head Doll Syndrome | 998 | ||
| Spasticity | 998 | ||
| Chapter 69: Cerebral Palsy | 999 | ||
| Definition and Clinical Characterization | 999 | ||
| Epidemiology | 999 | ||
| Etiology | 1000 | ||
| Perinatal Brain Injury | 1000 | ||
| Brain Injury Related to Prematurity | 1001 | ||
| Developmental Abnormalities | 1001 | ||
| Prenatal Risk Factors | 1001 | ||
| Postnatal Brain Injury | 1002 | ||
| Clinical Features and Diagnosis | 1002 | ||
| Further Diagnostic Evaluation | 1003 | ||
| Functional Classification | 1003 | ||
| Common Cerebral Palsy Syndromes | 1004 | ||
| Spastic Hemiplegia | 1004 | ||
| Spastic Quadriplegia | 1004 | ||
| Spastic Diplegia | 1005 | ||
| Extrapyramidal Cerebral Palsy | 1005 | ||
| Choreoathetotic cerebral palsy | 1005 | ||
| Dystonic cerebral palsy | 1005 | ||
| Hypotonic (Atonic) Cerebral Palsy | 1006 | ||
| Ataxic Cerebral Palsy | 1006 | ||
| Mixed Cerebral Palsy | 1007 | ||
| General Prognosis for Motor Function | 1007 | ||
| Chapter 70: Tics and Tourette's Syndrome | 1009 | ||
| Tic Phenomenology | 1009 | ||
| Definition | 1009 | ||
| Concept of Simple and Complex | 1009 | ||
| Characteristics | 1010 | ||
| Misdiagnoses | 1010 | ||
| Tic Assessment Scales | 1010 | ||
| Tic Disorders | 1010 | ||
| Provisional Tic Disorder | 1011 | ||
| Chronic (Motor or Vocal) Tic Disorder | 1011 | ||
| Tourette's Syndrome/Tourette's Disorder | 1011 | ||
| Substance-Induced Tic Disorder and Tic Disorder due to a General Medical Condition | 1011 | ||
| Tic Disorder Not Otherwise Specified | 1011 | ||
| Course | 1011 | ||
| Epidemiology | 1012 | ||
| Associated (Comorbid) Behaviors | 1012 | ||
| Attention-Deficit Hyperactivity Disorder | 1012 | ||
| Obsessive-Compulsive Disorder | 1012 | ||
| Anxiety and Depression | 1013 | ||
| Episodic Outbursts (Rage) and Self-Injurious Behavior | 1013 | ||
| Other Psychopathologies | 1013 | ||
| Academic Difficulties | 1013 | ||
| Sleep Disorders | 1013 | ||
| Etiology | 1013 | ||
| Genetic Basis | 1013 | ||
| Autoimmune Disorder | 1014 | ||
| Neurobiology of Tic Disorders | 1015 | ||
| Neuroanatomic Localization | 1015 | ||
| Striatum | 1016 | ||
| Cortex | 1016 | ||
| Neurotransmitter Abnormalities | 1017 | ||
| Dopamine | 1017 | ||
| Serotonin | 1017 | ||
| Glutamate | 1017 | ||
| Treatment | 1018 | ||
| Nonpharmacologic Treatments | 1018 | ||
| Pharmacotherapy | 1018 | ||
| Tier 1 Medications | 1019 | ||
| Tier 2 Medications | 1019 | ||
| Other Medications and Botulinum Toxin | 1019 | ||
| Surgical Approaches | 1019 | ||
| Part XI: White Matter Disorders | 1020 | ||
| Chapter 71: Genetic and Metabolic Disorders of the White Matter | 1020 | ||
| Introduction | 1020 | ||
| Hypomyelinating White-Matter Disorders | 1021 | ||
| Pelizaeus-Merzbacher Disease | 1024 | ||
| Pelizaeus-Merzbacher-Like Disease | 1025 | ||
| 4H Syndrome | 1025 | ||
| Oculodentodigital Dysplasia | 1027 | ||
| Hypomyelination with Congenital Cataract | 1028 | ||
| Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum | 1028 | ||
| Sialic Acid Storage Disorders | 1028 | ||
| Fucosidosis | 1029 | ||
| Serine Synthesis Defects | 1029 | ||
| Cockayne's Syndrome and Trichothiodystrophy | 1029 | ||
| 18q Minus Syndrome | 1030 | ||
| SOX10-Associated Disorders | 1030 | ||
| White-Matter Disorders with Demyelination | 1031 | ||
| Primary Demyelinating Leukodystrophies | 1031 | ||
| Alexander's Disease | 1031 | ||
| X-Linked Adrenoleukodystrophy | 1034 | ||
| Metachromatic Leukodystrophy | 1035 | ||
| Metachromatic Leukodystrophy-Like Variants | 1036 | ||
| Krabbe's Disease or Globoid Cell Leukodystrophy | 1036 | ||
| Saposin A Deficiency | 1036 | ||
| White Matter Disorders with White-Matter Vacuolization | 1036 | ||
| Canavan's Disease | 1037 | ||
| eIF2B-Related Disorder (Vanishing White Matter Disease) | 1037 | ||
| Calcifying Leukoencephalopathies | 1038 | ||
| Aicardi-Goutières Syndrome | 1038 | ||
| Cerebroretinal Microangiopathy with Calcifications and Cysts | 1039 | ||
| Bandlike Intracranial Calcification with Simplified Gyration and Polymicrogyria | 1040 | ||
| Cockayne's Syndrome | 1040 | ||
| Spondyloenchondrodysplasia | 1040 | ||
| Cytomegalovirus | 1040 | ||
| Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy | 1040 | ||
| Intracranial Calcification | 1040 | ||
| Dihydropterine Reductase Deficiency | 1040 | ||
| Cerebrotendinous Xanthomatosis | 1040 | ||
| Bilateral Occipital Calcifications | 1040 | ||
| Familial Hemophagocytic Lymphohistiocytosis | 1041 | ||
| Cystic Leukoencephalopathies | 1041 | ||
| Megalencephalic Leukoencephalopathy with Subcortical Cysts | 1041 | ||
| RNAse T2-Deficient Leukoencephalopathy | 1042 | ||
| Congenital Cytomegalovirus Infection | 1042 | ||
| Cerebroretinal Microangiopathy with Calcifications and Cysts | 1042 | ||
| Leukoencephalopathies with Brainstem, Cerebellum and Spinal Cord Involvement | 1042 | ||
| Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation | 1042 | ||
| Alexander's Disease | 1043 | ||
| Polyglucosan Body Disease and Adult Polyglucosan Body Disease | 1043 | ||
| Autosomal-Dominant Leukodystrophy with Autonomic Disease (Lamin B1) | 1043 | ||
| Adult-Onset Leukoencephalopathies | 1044 | ||
| Neuroaxonal Leukodystrophy with Spheroids | 1044 | ||
| Secondary Leukoencephalopathies Associated with Inborn Errors of Metabolism, Excluding the Classical Lysosomal and Peroxisomal | 1044 | ||
| Metabolic Disturbance in Pathways Involving Small Molecules | 1045 | ||
| Defects in Glucose/Carbohydrate Metabolism | 1045 | ||
| Defects of N-glycan synthesis | 1045 | ||
| Defects of O-glycan synthesis or dystroglycanopathies | 1046 | ||
| Ribose-5-phosphate isomerase deficiency | 1046 | ||
| Galactosemia | 1046 | ||
| Disorders Involving Amino Acid Metabolism | 1046 | ||
| Phenylketonuria/dihydropteridine reductase deficiency | 1046 | ||
| Maple syrup urine disease | 1046 | ||
| Disorders of transsulfuration | 1047 | ||
| Disorders of GABA metabolism | 1047 | ||
| Nonketotic hyperglycinemia | 1047 | ||
| Tyrosinemia | 1047 | ||
| Urea cycle disorders | 1047 | ||
| Purines and Pyrimidines | 1047 | ||
| Adenylosuccinate lyase deficiency | 1047 | ||
| Disorders Involving Urine Organic Acid Excretion | 1047 | ||
| Multiple carboxylase deficiency | 1047 | ||
| Propionic acidemia | 1047 | ||
| L2-hydroxyglutaric aciduria | 1048 | ||
| Glutaric academia type I | 1048 | ||
| Sjögren-larsson syndrome | 1048 | ||
| Vitamin/Co-Factor Deficiencies | 1048 | ||
| Biotinidase deficiency | 1048 | ||
| Disorders of Metal Metabolism | 1048 | ||
| Wilson's disease | 1048 | ||
| Menkes' disease | 1048 | ||
| Molybdenum co-factor deficiency and isolated sulfite oxidase deficiency | 1048 | ||
| Fatty Acid Metabolism | 1048 | ||
| 27-Hydroxylase deficiency (cerebrotendinous xanthomatosis) | 1048 | ||
| Smith-Lemli-Opitz syndrome | 1049 | ||
| Organelle Dysfunction Resulting in Leukoencephalopathy | 1049 | ||
| Lysosomal Disorders | 1049 | ||
| Disorders of sphingolipid metabolism | 1049 | ||
| Fabry's Disease | 1049 | ||
| GM1 Gangliosidosis | 1049 | ||
| GM2 Gangliosidoses | 1049 | ||
| Niemann-Pick C Disease | 1049 | ||
| Mucopolysaccharidoses, mucolipidoses, and oligosaccharidoses | 1049 | ||
| Mucopolysaccharidoses | 1049 | ||
| Mucolipidosis Type IV | 1049 | ||
| Disorders of Glycoprotein Degradation: α-Mannosidosis, β-Mannosidosis, Fucosidosis, and Sialidosis | 1050 | ||
| Aspartylglucosaminuria | 1050 | ||
| Neuronal ceroid-lipofuscinoses | 1050 | ||
| Peroxisomal Disorders | 1050 | ||
| Peroxisome biogenesis disorders | 1050 | ||
| Single enzyme deficiencies of peroxisomal fatty acid β-oxidation | 1050 | ||
| Mitochondrial Leukoencephalopathies | 1050 | ||
| DNA polymerase gamma 1 | 1050 | ||
| Mitochondrial neurogastrointestinal encephalopathy | 1050 | ||
| Pyruvate carboxylase and pyruvate dehydrogenase | 1051 | ||
| Inborn errors of ketone body metabolism | 1051 | ||
| 3-Hydroxy-3-Methylglutaryl Coenzyme A Lyase (HMG-CoA) Deficiency | 1051 | ||
| Electron transfer defects | 1051 | ||
| Glutaric Aciduria Type 2 or Multiple acylCoA Dehydrogenase Deficiency | 1051 | ||
| Acknowledgments | 1051 | ||
| Chapter 72: Acquired Disorders Affecting the White Matter | 1052 | ||
| Acute CNS Demyelination | 1052 | ||
| Optic Neuritis | 1052 | ||
| Transverse Myelitis | 1052 | ||
| Polyfocal Demyelination | 1053 | ||
| Other Clinical Presentations | 1053 | ||
| Investigation of a Child with Acute Demyelination | 1053 | ||
| Laboratory Investigations | 1053 | ||
| Magnetic Resonance Imaging | 1054 | ||
| Management of Acute Demyelination | 1055 | ||
| Acute Necrotizing Encephalopathy of Childhood | 1055 | ||
| Relapsing Demyelinating Disorders | 1057 | ||
| Multiple Sclerosis | 1057 | ||
| Demographics and Epidemiology of MS in Children | 1058 | ||
| Genetic and Environmental Risk Factors for MS in Children | 1059 | ||
| Clinical Course of Multiple Sclerosis in Children | 1059 | ||
| Immunomodulatory Therapy in Pediatric MS | 1059 | ||
| Principles of Immunomodulatory therapy | 1059 | ||
| Second-line therapies | 1059 | ||
| General Care Issues | 1060 | ||
| Recurrent and Multiphasic Acute Disseminated Encephalomyelitis | 1060 | ||
| Neuromyelitis Optica | 1060 | ||
| Demographics and Epidemiology of Childhood NMO | 1060 | ||
| Clinical Features of NMO in Children | 1060 | ||
| Laboratory Features | 1060 | ||
| MRI | 1060 | ||
| Treatment of NMO in Children | 1061 | ||
| Conclusions | 1061 | ||
| Part XII: Brain Injury and Disorders of Consciousness | 1062 | ||
| Chapter 73: Impairment of Consciousness and Coma | 1062 | ||
| Definitions | 1064 | ||
| Impairment of Consciousness with Activated Mental State | 1064 | ||
| Impairment of Consciousness with Reduced Mental State | 1064 | ||
| Vegetative State, Minimally Conscious State, and Related Conditions | 1065 | ||
| Vegetative State | 1065 | ||
| Minimally Conscious State | 1066 | ||
| Locked-In Syndrome | 1067 | ||
| Akinetic Mutism | 1067 | ||
| Brain Death | 1067 | ||
| Consciousness Rating Scales | 1067 | ||
| Pathophysiology | 1070 | ||
| Etiologies | 1070 | ||
| Evaluation | 1072 | ||
| Clinical Evaluation | 1072 | ||
| Identification of Cause | 1072 | ||
| History | 1072 | ||
| General Physical Examination | 1073 | ||
| Neurologic Examination | 1073 | ||
| Brain Herniation | 1075 | ||
| Historical Perspective | 1075 | ||
| Herniation Syndromes | 1075 | ||
| Uncal Herniation | 1076 | ||
| Central or Transtentorial Downward Herniation | 1076 | ||
| Infratentorial (Cerebellar) Herniation Syndromes | 1077 | ||
| Diagnostic Testing | 1077 | ||
| Treatment | 1078 | ||
| 1. Maintain Airway, Oxygenation and Ventilation | 1078 | ||
| 2. Maintain Circulation | 1078 | ||
| 3. Administer Glucose | 1078 | ||
| 4. Correct Acid-Base and Electrolyte Imbalance | 1078 | ||
| 5. Consider Specific Antidotes | 1078 | ||
| 6. Reduce Increased Intracranial Pressure | 1078 | ||
| 7. Stop Seizures | 1079 | ||
| 8. Treat Infection | 1079 | ||
| 9. Adjust Body Temperature | 1079 | ||
| 10. Manage Agitation | 1079 | ||
| Monitoring of the Comatose Patient | 1079 | ||
| Outcome Measurement | 1081 | ||
| Prognosis | 1083 | ||
| Traumatic Injury | 1083 | ||
| Nontraumatic Injury | 1084 | ||
| Clinical Neurophysiology | 1085 | ||
| Conclusions | 1085 | ||
| Chapter 74: Traumatic Brain Injury in Children | 1087 | ||
| Introduction and Background | 1087 | ||
| Epidemiology of Pediatric Traumatic Brain Injury | 1087 | ||
| Anatomy | 1088 | ||
| Biomechanics | 1088 | ||
| Injury Types | 1089 | ||
| Pathophysiology of Traumatic Brain Injury | 1089 | ||
| Distinctions of Injury to the Developing Brain | 1089 | ||
| Biomechanical Factors | 1089 | ||
| Changes in Cerebral Metabolism | 1090 | ||
| Distinct Neurovascular Regulation | 1090 | ||
| Increased Excitatory Neurotransmission | 1090 | ||
| On-Going Cerebral Maturation | 1090 | ||
| The Post-Traumatic Neurometabolic Cascade | 1090 | ||
| Glutamate Release and Ionic Flux | 1091 | ||
| Dynamic Changes in Cerebral Metabolism | 1091 | ||
| Cerebral Blood Flow: Hyperemia? Hypoperfusion? | 1092 | ||
| Altered Neurotransmission | 1092 | ||
| Axonal Disconnection | 1092 | ||
| Cell Death: Necrosis and Apoptosis | 1092 | ||
| Impaired Plasticity | 1093 | ||
| Patient History | 1093 | ||
| Examination | 1093 | ||
| Immediate Management | 1095 | ||
| Acute Clinical Syndromes | 1095 | ||
| Herniation Syndromes | 1096 | ||
| Diffuse Cerebral Swelling | 1096 | ||
| Diffuse Axonal Injury | 1096 | ||
| Paroxysmal Dysautonomia | 1097 | ||
| Abusive Head Trauma | 1097 | ||
| Subarachnoid Hemorrhage | 1098 | ||
| Subdural Hematoma | 1098 | ||
| Epidural Hematoma | 1099 | ||
| Cerebral Contusion and Laceration | 1100 | ||
| Traumatic Arterial Dissection and Traumatic Aneurysms | 1100 | ||
| Concussion | 1100 | ||
| Acute Post-Concussive Syndromes | 1101 | ||
| Sports Concussion/Repeated Concussion | 1101 | ||
| Epidemiology | 1101 | ||
| Pathophysiology | 1102 | ||
| Symptomatology | 1102 | ||
| Sequelae | 1102 | ||
| Second Impact Syndrome | 1103 | ||
| Skull Fractures | 1103 | ||
| Scalp Lacerations and Hematomas | 1104 | ||
| Diagnostic Evaluation | 1104 | ||
| Neuroimaging | 1104 | ||
| Skull X-Rays | 1104 | ||
| Computed Tomography | 1104 | ||
| Magnetic Resonance Imaging | 1106 | ||
| Angiography | 1106 | ||
| Ultrasound | 1106 | ||
| Lumbar Puncture | 1106 | ||
| Neurophysiological Testing | 1106 | ||
| General Management Principles for Severe Pediatric TBI | 1107 | ||
| Stabilization and Prevention of Secondary Injury | 1107 | ||
| First-Tier Intracranial Pressure Management | 1107 | ||
| Sedation and Neuromuscular Blockade | 1107 | ||
| Hyperventilation | 1107 | ||
| Hyperosmolar Therapy | 1108 | ||
| ICP Monitoring - Indications and Treatment Threshold | 1108 | ||
| Cerebral Perfusion Pressure | 1109 | ||
| Cerebrospinal Fluid Drainage | 1110 | ||
| Second-Tier Intracranial Pressure Management | 1110 | ||
| Barbiturates | 1110 | ||
| Temperature Control and Hypothermia | 1110 | ||
| Surgical Management of ICP | 1111 | ||
| Early Post-Traumatic Seizures and Seizure Prophylaxis | 1111 | ||
| Acute Anticonvulsant Therapy | 1112 | ||
| Prevention of Post-Traumatic Epilepsy | 1112 | ||
| Supportive Care | 1112 | ||
| Treatment Algorithm for Increased Intracranial Pressure in Severe Pediatric Traumatic Brain Injury | 1113 | ||
| General Management of Mild Traumatic Brain Injury/Concussion | 1113 | ||
| Mild Traumatic Brain Injury without Loss of Consciousness in Child Over 2 Years Old | 1113 | ||
| Mild Traumatic Brain Injury with Brief Loss of Consciousness in Child Over 2 Years Old | 1115 | ||
| Mild Traumatic Brain Injury in Children Under 2 Years Old | 1116 | ||
| Guidelines for Return to Play Following Sports Concussion | 1117 | ||
| Prognosis and Outcome | 1117 | ||
| Clinical Predictors of Outcome | 1117 | ||
| Demographics - Age and Gender | 1118 | ||
| Injury Characteristics | 1118 | ||
| Physiological Measurements | 1118 | ||
| Intracranial pressure | 1118 | ||
| Cerebral blood flow and cerebral perfusion pressure | 1118 | ||
| Neuroimaging and Prognosis | 1119 | ||
| Computed Tomography | 1119 | ||
| Structural Magnetic Resonance Imaging | 1119 | ||
| Diffusion-Weighted Imaging and Diffusion Tensor Imaging | 1119 | ||
| Magnetic Resonance Spectroscopy | 1119 | ||
| Neurophysiological Testing and Prognosis | 1121 | ||
| Electroencephalogram | 1121 | ||
| Somatosensory-Evoked Potentials | 1121 | ||
| Late Clinical Syndromes | 1121 | ||
| Vegetative and Minimally Conscious States | 1121 | ||
| Cognitive Impairment and Behavioral Disorders | 1121 | ||
| Spasticity and Motor Impairment | 1122 | ||
| Post-Traumatic Hydrocephalus | 1122 | ||
| Post-Traumatic Epilepsy | 1122 | ||
| Subacute and Chronic Subdural Hematoma | 1123 | ||
| Post-Traumatic Headache | 1124 | ||
| Postconcussive Syndrome | 1124 | ||
| Late Complications of Skull Fracture | 1125 | ||
| Conclusions | 1125 | ||
| Chapter 75: Non-accidental Head Trauma | 1126 | ||
| Historical Perspective | 1126 | ||
| Terminology | 1127 | ||
| Developmental Differences Predisposing the Immature Neuraxis to Injury | 1127 | ||
| Mechanical Factors | 1127 | ||
| Biologic Factors | 1127 | ||
| Responses to Injury | 1127 | ||
| Mechanisms of Injury | 1128 | ||
| Contribution of hypoxia-ischemia | 1128 | ||
| Clinical Features | 1128 | ||
| Acute Presentation | 1128 | ||
| Early Post-Traumatic Seizures | 1129 | ||
| Subacute and Chronic Presentation | 1129 | ||
| Sequelae of Inflicted Head Injury | 1129 | ||
| Cognitive and Executive Function | 1130 | ||
| Behavioral Sequelae | 1130 | ||
| Visual Sequelae | 1130 | ||
| Motor Sequelae | 1130 | ||
| Neuroimaging | 1130 | ||
| Mortality Predictors | 1131 | ||
| Pathologic Features | 1131 | ||
| Extracranial Injuries | 1131 | ||
| Scalp | 1131 | ||
| Skull Fractures | 1131 | ||
| Intracranial Injuries | 1132 | ||
| Subdural Hematoma | 1132 | ||
| Mixed-density or ``hyperacute´´ subdural hematoma | 1133 | ||
| Chronic subdural hematoma | 1133 | ||
| Chronic subdural effusions | 1134 | ||
| Subarachnoid Hemorrhage | 1135 | ||
| Epidural Hematoma | 1135 | ||
| Brain Injuries | 1135 | ||
| Brain swelling | 1135 | ||
| Hemispheric swelling | 1135 | ||
| Cerebral infarction | 1135 | ||
| Diffuse axonal injury | 1137 | ||
| Cerebral contusions | 1137 | ||
| White-Matter Contusional Tears | 1137 | ||
| Ocular Pathology | 1138 | ||
| Retinal Hemorrhages | 1138 | ||
| Theories of Retinal Hemorrhage Pathogenesis | 1140 | ||
| Optic Nerve Sheath Hemorrhage | 1140 | ||
| Spinal Injuries | 1140 | ||
| Differential Diagnosis | 1141 | ||
| Unintentional Injury | 1141 | ||
| Falls | 1141 | ||
| Short falls | 1141 | ||
| Walker and stroller falls | 1141 | ||
| Falls down stairs | 1141 | ||
| Falls from heights | 1141 | ||
| Birth Trauma | 1142 | ||
| Neurometabolic Disease | 1142 | ||
| Differential of Specific Findings | 1142 | ||
| Retinal and Optic Nerve Sheath Hemorrhages | 1142 | ||
| Extensive Subarachnoid Hemorrhage | 1143 | ||
| Clinical Assessment | 1143 | ||
| General Examination | 1143 | ||
| Neurologic Examination | 1144 | ||
| Autonomic and Neuroendocrine Responses | 1144 | ||
| Clinical Laboratory Evaluation | 1144 | ||
| Biochemical Markers | 1144 | ||
| Radiographic Evaluation | 1145 | ||
| Postmortem Examination | 1145 | ||
| Making the Diagnosis of Inflicted Head Injury | 1145 | ||
| General Considerations | 1145 | ||
| Evaluating the History | 1147 | ||
| Timing | 1147 | ||
| Lucid Interval | 1147 | ||
| Dating by Neuroimaging | 1147 | ||
| Medicolegal Issues | 1148 | ||
| Conclusion | 1148 | ||
| Chapter 76: Hypoxic-Ischemic Encephalopathy in Infants and Older Children | 1149 | ||
| Cardiac Arrest: Etiology, Survival, and Neurological Outcome | 1149 | ||
| Post-Cardiac Arrest Syndrome | 1149 | ||
| Response to Inadequate Oxygen Delivery: Mechanisms of Brain Injury | 1150 | ||
| Brain Energy Failure | 1151 | ||
| Calcium-Mediated Injury | 1152 | ||
| Excitotoxic Injury | 1153 | ||
| Activation of Intracellular Enzymes | 1154 | ||
| Phospholipase Release of Free Fatty Acids | 1154 | ||
| Activation of Nitric Oxide Synthesis | 1155 | ||
| Formation of Oxygen Radicals | 1156 | ||
| Inflammatory Reaction | 1157 | ||
| Genetic Damage and Regulation | 1157 | ||
| Clinical Pathophysiology | 1158 | ||
| Cerebral Blood Flow and Metabolism After Resuscitation | 1158 | ||
| Major Disorders Causing Cardiac Arrest | 1159 | ||
| Sudden Infant Death Syndrome | 1159 | ||
| Epidemiology | 1160 | ||
| Incidence and age at death | 1160 | ||
| Identification of risk factors | 1160 | ||
| Pathophysiology | 1161 | ||
| Risk Factors | 1162 | ||
| Management | 1162 | ||
| Drowning (Submersion Injury) | 1162 | ||
| Epidemiology | 1163 | ||
| Pathophysiology | 1163 | ||
| Neurological | 1163 | ||
| Respiratory system | 1163 | ||
| Cardiovascular system | 1164 | ||
| Electrolytes | 1164 | ||
| Hypothermia | 1164 | ||
| Outcomes and Prognosis | 1164 | ||
| Outcomes | 1164 | ||
| Prognosis | 1164 | ||
| Prevention | 1166 | ||
| Strangulation Injury | 1166 | ||
| Abusive Head Trauma | 1167 | ||
| Lightning and Electrical Injuries | 1168 | ||
| Electrical Shock | 1169 | ||
| Sudden Cardiac Arrest in Children and Adolescents | 1169 | ||
| Neurologic Complications After Cardiac Arrest | 1170 | ||
| Delayed Posthypoxic Injury | 1170 | ||
| Post-Ischemic Seizures | 1170 | ||
| Delayed Postanoxic Myoclonic Seizures | 1171 | ||
| Neurologic Prognosis After Cardiac Arrest | 1171 | ||
| Electroencephalography | 1172 | ||
| Somatosensory and Auditory-Evoked Potentials | 1172 | ||
| Biochemical Markers | 1173 | ||
| Neuroimaging | 1174 | ||
| Magnetic Resonance Spectroscopy | 1174 | ||
| Treatment | 1174 | ||
| Resuscitation | 1176 | ||
| Postresuscitation Interventions | 1177 | ||
| Intracranial Pressure Monitoring and Control | 1177 | ||
| Glucose Homeostasis | 1177 | ||
| Cardiovascular Support | 1178 | ||
| Extracorporeal Membrane Oxygenation-Cardiopulmonary Resuscitation | 1178 | ||
| Temperature Control | 1179 | ||
| Post-Cardiac Arrest Brain Injury - Potential Therapies | 1179 | ||
| Modulation of Endogenous Defenses | 1180 | ||
| Heat shock proteins | 1180 | ||
| Adenosine | 1180 | ||
| Targeting Delayed Neuronal Death | 1180 | ||
| Reduction of Excitotoxicity | 1181 | ||
| Inhibition of Calcium Accumulation | 1181 | ||
| Antioxidants | 1182 | ||
| Reduction of Lipid Peroxidation | 1182 | ||
| Nitric Oxide Inhibition | 1183 | ||
| Modulation/Protein Synthesis | 1183 | ||
| Inhibition of Arachidonic Acid Metabolism | 1184 | ||
| Glucocorticoids | 1184 | ||
| Hyperbaric Oxygen Treatment | 1184 | ||
| Dilemma of Neurologic Morbidity | 1184 | ||
| Chapter 77: Disorders of Intracranial Pressure | 1185 | ||
| Introduction | 1185 | ||
| Normal Intracranial Pressure | 1185 | ||
| Pathophysiology of Raised Intracranial Pressure | 1185 | ||
| Compliance Changes with Age | 1185 | ||
| Effects of Intracranial Hypertension on Cerebral Perfusion | 1186 | ||
| Cerebral Autoregulation | 1187 | ||
| Effects of Intracranial Hypertension on Autoregulation | 1187 | ||
| Loss of Autoregulation Leading to Brain Tamponade | 1188 | ||
| Intracranial Pressure Monitoring | 1188 | ||
| History | 1188 | ||
| Indications for Intracranial Pressure Monitoring | 1188 | ||
| Methods of Intracranial Pressure Monitoring | 1188 | ||
| Thresholds and Doses of Raised Intracranial Pressure | 1189 | ||
| Duration of Physiologic Derangement and Outcome | 1189 | ||
| Application of Receiver Operating Characteristic Curves to Determining Thresholds | 1189 | ||
| Area Under the Curve Analyses of Intracranial Pressure and Cerebral Perfusion Pressure Insults | 1189 | ||
| Combining High-Frequency Data Collection with Calculation of ICP and CPP Dose | 1190 | ||
| Similar Thresholds Affect Outcome in Other Forms of Severe Brain Injury | 1190 | ||
| Lessons and Limitations of these Studies | 1191 | ||
| Intracranial Hypertension Related to Compromise of Autoregulation | 1191 | ||
| Calculation of Cerebrovascular Reactivity | 1191 | ||
| Autoregulation-Directed Therapy in Pediatric Neurotrauma | 1192 | ||
| Effects of Gender on Increased Intracranial Pressure | 1192 | ||
| Clinical Manifestations of Raised Intracranial Pressure | 1192 | ||
| Physical Examination Findings | 1192 | ||
| Herniation Syndromes | 1193 | ||
| Lumbar Puncture in Patients with Raised Intracranial Pressure | 1193 | ||
| Management of Acutely Elevated Intracranial Pressure | 1194 | ||
| Initial Assessment, Imaging and Surgical Intervention | 1194 | ||
| General Principles of Medical Management | 1194 | ||
| Intracranial Pressure-Directed Therapy | 1194 | ||
| Spontaneous Intracranial Hypotension | 1195 | ||
| Diagnosis and Management | 1195 | ||
| Chronic Intracranial Hypertension | 1196 | ||
| Idiopathic Intracranial Hypertension | 1196 | ||
| Treatment of Idiopathic Intracranial Hypertension | 1196 | ||
| Conclusions | 1196 | ||
| Chapter 78: Spinal Cord Injury | 1198 | ||
| Epidemiology | 1198 | ||
| Anatomy | 1198 | ||
| Bony Spine and Ligaments | 1198 | ||
| Spinal Cord | 1199 | ||
| Blood Supply | 1199 | ||
| Pathogenesis: Mechanisms of Spinal Cord Injury | 1200 | ||
| Neuropathology | 1201 | ||
| Intraspinal Intramedullary Lesions | 1201 | ||
| Pathogenesis and Pathologies | 1201 | ||
| Primary injury phase | 1202 | ||
| Phases of secondary injury | 1202 | ||
| Immediate Phase (0-2 Hours) | 1202 | ||
| Acute Phase (2-48 Hours) | 1202 | ||
| Subacute Phase (2 Days to 2 Weeks) | 1203 | ||
| Intermediate Phase (2 Weeks to 6 Months) | 1203 | ||
| Chronic Phase (6 Months or More) | 1203 | ||
| Intraspinal Extramedullary Lesions | 1203 | ||
| Pathogenesis and Pathologies | 1203 | ||
| Clinical Assessment | 1203 | ||
| History | 1203 | ||
| General Physical Examination | 1203 | ||
| Neurologic Examination | 1204 | ||
| Laboratory Studies | 1205 | ||
| Radiographic Evaluation | 1205 | ||
| Electrophysiologic Evaluation | 1208 | ||
| Lumbar Puncture | 1208 | ||
| Clinical Syndromes | 1208 | ||
| Intraspinal Intramedullary Injuries | 1208 | ||
| Complete Spinal Cord Injuries | 1208 | ||
| Incomplete Spinal Cord Injuries | 1209 | ||
| Cervical nerve root/brachial plexus neuropraxia | 1209 | ||
| Cervical cord neuropraxia | 1209 | ||
| Cervicomedullary syndrome | 1209 | ||
| Central spinal syndrome | 1209 | ||
| Anterior spinal cord syndrome | 1210 | ||
| Posterior spinal cord syndrome | 1210 | ||
| Brown-séquard syndrome | 1210 | ||
| Conus medullaris syndrome | 1210 | ||
| Intraspinal Extramedullary Injuries | 1210 | ||
| Spinal Epidural Hematoma | 1210 | ||
| Spinal Subdural Hematoma | 1210 | ||
| Spinal Subarachnoid Hemorrhage | 1210 | ||
| Spinal Epidural Abscess | 1210 | ||
| Spinal Arachnoid Cyst | 1211 | ||
| Spinal Epidermoid Tumor | 1211 | ||
| Herniation of the Nucleus Pulposus | 1211 | ||
| Cauda Equina Injuries | 1211 | ||
| Catastrophic Spinal Cord Injuries | 1211 | ||
| Supraspinal Changes | 1211 | ||
| Management | 1211 | ||
| Short-Term Management | 1211 | ||
| Spine Immobilization and Supportive Care | 1211 | ||
| Surgical Management of Acute Spinal Cord Injury | 1212 | ||
| Completed Randomized Controlled Clinical Trials for Medical Treatment of Acute Spinal Cord Injury | 1212 | ||
| Methylprednisolone, naloxone, and tirilazad | 1212 | ||
| GM1 Ganglioside | 1214 | ||
| Thyrotropin releasing hormone | 1214 | ||
| Nimodipine | 1214 | ||
| Gacyclidine | 1215 | ||
| Additional Clinical Trials | 1215 | ||
| Pharmacological trials | 1215 | ||
| Minocycline | 1215 | ||
| Riluzole | 1215 | ||
| Erythropoietin | 1215 | ||
| Nonpharmacological trials | 1215 | ||
| Hypothermia | 1215 | ||
| Oscillating Field Stimulation | 1215 | ||
| Targeting Myelin-Associated and Glial Scar-Associated Inhibitors of Regeneration | 1216 | ||
| Molecular Mechanisms | 1216 | ||
| Myelin-Associated Inhibitors | 1216 | ||
| Glial Scar-Associated Inhibitors | 1216 | ||
| Cell Transplantation Therapies | 1216 | ||
| Activated Autologous Macrophages | 1216 | ||
| Schwann Cells | 1217 | ||
| Olfactory Ensheathing Cells | 1217 | ||
| Bone Marrow Stromal Cells | 1217 | ||
| Human Embryonic Stem Cells | 1217 | ||
| Other Investigational Therapies | 1217 | ||
| Gene Therapy for Spinal Cord Injury | 1217 | ||
| Long-Term Management | 1218 | ||
| Cervical Spine Immobilization | 1218 | ||
| Supportive Medical Care | 1218 | ||
| Physical Therapy | 1219 | ||
| Psychological Therapy | 1219 | ||
| Prognosis | 1219 | ||
| Prevention | 1220 | ||
| Chapter 79: Determination of Brain Death in Infants and Children | 1221 | ||
| Historical Perspective | 1221 | ||
| Legal Definition of Brain Death | 1225 | ||
| Epidemiology | 1225 | ||
| Incidence of Brain Death | 1225 | ||
| Etiologies of Brain Death | 1225 | ||
| Outcome after Diagnosis of Brain Death | 1225 | ||
| Neurologic Evaluation | 1226 | ||
| Clinical Examination | 1226 | ||
| Cerebral Unresponsivity | 1226 | ||
| Brainstem Examination | 1226 | ||
| Number of examinations, examiners and observation periods | 1227 | ||
| Number of Examinations and Examiners | 1227 | ||
| Duration of Observation Periods | 1227 | ||
| Apnea Testing | 1228 | ||
| Technique for performing apnea testing | 1229 | ||
| Ancillary Neurodiagnostic Studies | 1230 | ||
| Electroencephalogram | 1230 | ||
| Electroencephalogram in Pediatric Brain Death | 1230 | ||
| Measurements of Cerebral Perfusion | 1233 | ||
| Cerebral Angiography | 1233 | ||
| Radionuclide Imaging | 1233 | ||
| Computed Tomographic Angiography and Perfusion | 1234 | ||
| Magnetic Resonance Imaging and Magnetic Resonance Angiography | 1235 | ||
| Transcranial Doppler | 1235 | ||
| Digital Subtraction Angiography | 1235 | ||
| Xenon Computed Tomography | 1236 | ||
| Positron Emission Tomography | 1236 | ||
| Magnetic Resonance Spectroscopy | 1236 | ||
| Comparison of EEG and CBF studies | 1236 | ||
| Evoked Potentials | 1237 | ||
| Brain Death in Newborns | 1237 | ||
| Epidemiology | 1237 | ||
| Clinical Examination | 1237 | ||
| Duration of Observation | 1237 | ||
| Apnea Testing | 1238 | ||
| Ancillary Studies | 1238 | ||
| Determination of Brain Death in the Comatose Pediatric Patient | 1238 | ||
| Discussions with Family Members and Staff | 1239 | ||
| Organ Donation | 1239 | ||
| Part XIII: Infections of the Nervous System | 1241 | ||
| Chapter 80: Bacterial Infections of the Nervous System | 1241 | ||
| Acute Bacterial Meningitis | 1241 | ||
| Epidemiology | 1241 | ||
| Pathogenesis | 1242 | ||
| Diagnosis | 1243 | ||
| Clinical Features | 1243 | ||
| Meningismus | 1243 | ||
| Initial presentation | 1243 | ||
| Two modes of presentation | 1243 | ||
| Neurologic findings | 1243 | ||
| Arthritis and other systemic manifestations | 1243 | ||
| Differential diagnosis | 1243 | ||
| Neonatal meningitis | 1244 | ||
| Shunt infections | 1244 | ||
| Meningitis after cochlear implants | 1244 | ||
| Lumbar Puncture | 1244 | ||
| Laboratory tests | 1245 | ||
| Contraindications | 1245 | ||
| Other Tests | 1245 | ||
| Brain Imaging | 1246 | ||
| Complications | 1246 | ||
| Pathophysiologic Changes | 1246 | ||
| Blood-brain barrier disruption | 1246 | ||
| Brain edema | 1246 | ||
| Hyponatremia, dehydration, and inappropriate secretion of antidiuretic hormone | 1246 | ||
| Intracranial hypertension | 1247 | ||
| Cerebral blood flow changes | 1247 | ||
| Seizures | 1247 | ||
| Deafness and Cranial Nerve Damage | 1247 | ||
| Neuronal Damage | 1247 | ||
| Hydrocephalus | 1248 | ||
| Septic Shock and Disseminated Intravascular Coagulation | 1248 | ||
| Extra-Axial Fluid Collections | 1249 | ||
| Pathology | 1249 | ||
| Treatment | 1249 | ||
| Antibiotics | 1249 | ||
| Streptococcus pneumoniae | 1250 | ||
| Haemophilus influenzae | 1251 | ||
| Neisseria meningitidis | 1251 | ||
| Group b streptococci | 1251 | ||
| Listeria monocytogenes | 1251 | ||
| Gram-negative bacilli | 1251 | ||
| Staphylococci | 1251 | ||
| Corticosteroids | 1251 | ||
| Approach to Seriously Ill Patients | 1252 | ||
| Seizures | 1252 | ||
| Shock and disseminated intravascular coagulation | 1252 | ||
| Fluid balance and electrolytes | 1252 | ||
| Intracranial hypertension | 1252 | ||
| Cerebral infarction | 1253 | ||
| Hydrocephalus | 1253 | ||
| Subdural effusion | 1253 | ||
| Prognosis | 1253 | ||
| Prevention | 1254 | ||
| Immunoprophylaxis | 1254 | ||
| Chemoprophylaxis | 1254 | ||
| Recurrent Acute Bacterial Meningitis | 1254 | ||
| Chronic Bacterial Meningitis | 1255 | ||
| Tuberculous Meningitis | 1255 | ||
| Epidemiology and Pathogenesis | 1255 | ||
| Clinical Characteristics | 1255 | ||
| Diagnosis | 1255 | ||
| Treatment | 1256 | ||
| Syphilis | 1256 | ||
| Epidemiology and Pathogenesis | 1256 | ||
| Clinical Characteristics | 1256 | ||
| Part XIV: Tumors and Vascular Disorders of the Nervous System | 1339 | ||
| Chapter 83: Tumors of the Brain and Spine | 1339 | ||
| Introduction | 1339 | ||
| Incidence | 1340 | ||
| Etiology | 1341 | ||
| Neurofibromatosis | 1341 | ||
| Tuberous Sclerosis and Other Autosomal-Dominant Conditions | 1341 | ||
| Li-Fraumeni Syndrome | 1341 | ||
| Gorlin's Syndrome | 1342 | ||
| Turcot's Syndrome | 1342 | ||
| Environmental Exposures, Including Radiation Therapy | 1342 | ||
| Pathology and Classification | 1342 | ||
| Biology | 1343 | ||
| Medulloblastoma and Supratentorial PNET | 1343 | ||
| Astrocytoma | 1344 | ||
| Other Childhood Brain Tumors | 1344 | ||
| Neuroradiology | 1344 | ||
| Diffusion Imaging | 1345 | ||
| Magnetic Resonance Spectroscopy | 1345 | ||
| Perfusion Imaging | 1346 | ||
| Positron Emission Tomography | 1346 | ||
| Staging and Stratification | 1346 | ||
| Clinical Presentation | 1347 | ||
| Nonlocalizing Signs and Symptoms | 1347 | ||
| Localizing Symptoms | 1347 | ||
| Supratentorial Tumors | 1347 | ||
| Posterior Fossa Tumors | 1348 | ||
| Midline Tumors | 1349 | ||
| Tumors in Infants | 1349 | ||
| Disseminated Disease | 1350 | ||
| General Aspects of Treatment | 1350 | ||
| Surgery | 1350 | ||
| Intraoperative Techniques | 1350 | ||
| Perioperative Considerations | 1351 | ||
| Postoperative Morbidity | 1351 | ||
| Radiation Therapy | 1352 | ||
| Changing Techniques/Delivery | 1352 | ||
| Radiation Therapy-Associated Sequelae | 1352 | ||
| Chemotherapy | 1354 | ||
| High-Dose Systemic Chemotherapy | 1354 | ||
| Regional Chemotherapy | 1355 | ||
| Inhibition of Resistance to Chemotherapy | 1355 | ||
| Biologic Therapy | 1355 | ||
| Inhibitors of Receptor Tyrosine Kinases and Cellular Signal Transduction | 1355 | ||
| Immunotherapy | 1355 | ||
| Gene Therapy | 1356 | ||
| Management of Specific Tumors | 1356 | ||
| Embryonal Tumors | 1356 | ||
| Medulloblastoma | 1356 | ||
| Clinical presentation and diagnosis | 1357 | ||
| Management and outcome | 1358 | ||
| Relapsed medulloblastoma | 1360 | ||
| Future therapy | 1360 | ||
| Sequelae in medulloblastoma survivors | 1360 | ||
| Supratentorial Primitive Neuroectodermal Tumors | 1361 | ||
| Clinical presentation and diagnosis | 1361 | ||
| Management and outcome | 1361 | ||
| Atypical Teratoid/Rhabdoid Tumors | 1362 | ||
| Clinical presentation and diagnosis | 1363 | ||
| Management and outcome | 1363 | ||
| Other Embryonal Tumors/Medulloepitheliomas and Ependymoblastomas | 1363 | ||
| Part XV: Neuromuscular Disorders | 1463 | ||
| Chapter 87: Normal Muscle | 1463 | ||
| Embryology and Development | 1463 | ||
| Anatomy and Structure | 1465 | ||
| Morphology | 1465 | ||
| Sarcomere | 1465 | ||
| Contractile and Sarcomeric Proteins | 1465 | ||
| Sarcotubular System | 1467 | ||
| Cytoskeletal Proteins | 1468 | ||
| Dystrophin | 1469 | ||
| Dystrophin-Glycoprotein Complex | 1470 | ||
| Sarcoglycans | 1470 | ||
| Utrophin | 1470 | ||
| Dysferlin | 1471 | ||
| Caveolin | 1471 | ||
| Merosin (Laminin-α2) | 1471 | ||
| Intermediate Filaments | 1471 | ||
| Nuclear Membrane-Related Proteins: Emerin and Lamin A/C | 1472 | ||
| Muscle Fiber Types | 1472 | ||
| Function | 1473 | ||
| Motor Unit | 1473 | ||
| Neuromuscular Transmission | 1473 | ||
| Excitation-Contraction Coupling | 1475 | ||
| Neural Control of Muscle Contraction | 1476 | ||
| Motor Unit System | 1477 | ||
| Gamma Efferent System | 1477 | ||
| Muscle Metabolism | 1478 | ||
| Clinical Laboratory Tests | 1478 | ||
| Clinical Biochemistry | 1478 | ||
| Electromyography | 1479 | ||
| Muscle Biopsy | 1479 | ||
| Muscle Imaging | 1480 | ||
| Molecular Genetics | 1481 | ||
| Chapter 88: Anterior Horn Cell and Cranial Motor Neuron Disease | 1482 | ||
| Hereditary Motor Neuron Diseases | 1482 | ||
| The Anterior Horn Cells of Spinal Cord | 1482 | ||
| Autosomal-Recessive Spinal Muscular Atrophy Linked to the SMN1 Gene | 1482 | ||
| Clinical Features of Spinal Muscular Atrophy | 1482 | ||
| Type i spinal muscular atrophy | 1482 | ||
| Type ii spinal muscular atrophy | 1482 | ||
| Type iii spinal muscular atrophy | 1483 | ||
| Type iv spinal muscular atrophy | 1483 | ||
| Molecular Genetics and Pathogenesis of Spinal Muscular Atrophy | 1483 | ||
| Cellular Function of SMN Protein | 1485 | ||
| Other Hereditary Diseases Affecting Spinal Motor Neurons | 1486 | ||
| Arthrogryposis Multiplex Congenita and Motor Neuron Diseases | 1486 | ||
| Motor Neuron Diseases Involving Bulbar Functions | 1489 | ||
| Spinal and bulbar muscular atrophy (kennedy disease) | 1489 | ||
| Möbius' syndrome | 1490 | ||
| Amyotrophic lateral sclerosis | 1490 | ||
| Distal Spinal Muscular Atrophy and Hereditary Motor Neuropathy | 1492 | ||
| Motor Neuron Diseases of Unknown Etiology | 1492 | ||
| Monomelic Amyotrophy (Hirayama's Disease) | 1492 | ||
| Benign Congenital Hypotonia | 1493 | ||
| Spinal Cord Anomalies Affecting Motor Neurons | 1494 | ||
| Syringomyelia | 1494 | ||
| Hydromyelia | 1495 | ||
| Diastematomyelia | 1495 | ||
| Infection and Autoimmune Diseases Affecting Motor Neurons of the Spinal Cord | 1497 | ||
| Poliomyelitis | 1497 | ||
| West Nile Poliomyelitis | 1498 | ||
| Transverse Myelitis | 1498 | ||
| Vascular Diseases of the Spinal Cord | 1500 | ||
| Anterior Spinal Artery Occlusion | 1500 | ||
| Spinal Cord Vascular Anomalies | 1501 | ||
| Trauma-Related Anterior Horn Cell Disease | 1501 | ||
| Chapter 89: Peripheral Neuropathies | 1503 | ||
| Anatomy | 1503 | ||
| Facial Nerve Paralysis (Bell's Palsy) | 1503 | ||
| Clinical Features | 1503 | ||
| Laboratory Findings | 1504 | ||
| Treatment and Prognosis | 1505 | ||
| Recurrent Facial Paralysis | 1506 | ||
| Brachial Plexus | 1506 | ||
| Injury | 1506 | ||
| Inherited Conditions | 1508 | ||
| Inflammatory Neuropathies | 1508 | ||
| Acute Inflammatory Demyelinating Polyradiculoneuropathy (Guillain-Barré Syndrome) | 1508 | ||
| Pathology | 1509 | ||
| Clinical Characteristics | 1509 | ||
| Management | 1510 | ||
| Chronic Inflammatory Demyelinating Polyradiculoneuropathy | 1510 | ||
| Investigations | 1510 | ||
| Management | 1511 | ||
| Hereditary Neuropathies | 1511 | ||
| Hereditary Motor and Sensory Neuropathy (Charcot-Marie-Tooth Disease) | 1511 | ||
| Pathology | 1511 | ||
| Clinical Characteristics | 1511 | ||
| Clinical Neurophysiology | 1517 | ||
| Genetics | 1517 | ||
| Hereditary Motor and Sensory Neuropathy Type II | 1517 | ||
| Congenital and Early Infantile Axonal Types | 1518 | ||
| Hereditary Motor and Sensory Neuropathy Type III (Dejerine-Sottas Disease) and Hypomyelinating Neuropathies | 1518 | ||
| Hereditary Motor and Sensory Neuropathy Types IV to VII | 1519 | ||
| X-Linked Forms | 1519 | ||
| X-linked dominant forms (x-linked dominant charcot-marie-tooth disease (CMTX1, HMSNX1) | 1519 | ||
| Clinical Manifestations | 1519 | ||
| Clinical Neurophysiology | 1519 | ||
| Genetics | 1519 | ||
| X-linked recessive forms | 1520 | ||
| Intermediate Forms of Charcot-Marie-Tooth Disease | 1520 | ||
| Distal Hereditary Motor Neuropathies | 1520 | ||
| Hereditary Sensory and Autonomic Neuropathies | 1520 | ||
| Type I | 1520 | ||
| Type II | 1520 | ||
| Type III | 1520 | ||
| Type IV | 1520 | ||
| Type V | 1521 | ||
| Other Inherited Sensory Neuropathies | 1521 | ||
| Congenital Indifference to Pain | 1521 | ||
| Acquired Sensory Neuropathy | 1521 | ||
| Management of the Childhood Polyneuropathies | 1521 | ||
| Supportive Treatment | 1521 | ||
| Specific Treatment | 1522 | ||
| Friedreich's Ataxia | 1522 | ||
| Giant Axonal Neuropathy | 1522 | ||
| Infantile Neuroaxonal Dystrophy (Seitelberger's Disease) | 1524 | ||
| Krabbe's Disease (Globoid Cell Leukodystrophy) | 1524 | ||
| Metabolic Neuropathies | 1525 | ||
| Diabetes Mellitus | 1525 | ||
| Uremic Neuropathy | 1525 | ||
| Acute Intermittent Porphyria | 1525 | ||
| Vitamin Deficiency | 1526 | ||
| Congenital Pernicious Anemia | 1526 | ||
| Abetalipoproteinemia | 1526 | ||
| Pathology | 1526 | ||
| Part XVI: Systemic and Autonomic Nervous System Diseases | 1690 | ||
| Chapter 97: Endocrine Disorders of the Hypothalamus and Pituitary in Childhood and Adolescence | 1690 | ||
| Introduction | 1690 | ||
| Anatomic and Physiologic Aspects | 1690 | ||
| Hypothalamic/Pituitary Disorders of Pubertal Development | 1691 | ||
| Normal Physiology of Puberty and Adrenarche | 1691 | ||
| Sexual Precocity | 1692 | ||
| Management | 1693 | ||
| Delayed or Arrested Puberty | 1693 | ||
| Isolated Congenital Hypogonadotropic Hypogonadism | 1693 | ||
| Hypogonadotropic Hypogonadism Associated with Multiple Hypothalamic/Pituitary Hormone Deficiencies | 1694 | ||
| Functional Hypogonadotropic Hypogonadism | 1694 | ||
| Evaluation of Delayed or Arrested Puberty | 1694 | ||
| Management | 1694 | ||
| Disorders of Prolactin Secretion | 1695 | ||
| Normal Biochemistry and Physiology of Prolactin | 1695 | ||
| Clinical Features and Management of Hyperprolactinemia | 1695 | ||
| Hypothalamic/Pituitary Disorders of Glucocorticoid Production | 1695 | ||
| Adrenocorticotropic Excess | 1695 | ||
| Adrenocorticotropic Hormone Deficiency | 1696 | ||
| Hypothalamic/Pituitary Disorders of Statural Growth | 1697 | ||
| Growth Hormone Deficiency | 1697 | ||
| Growth Hormone Excess | 1697 | ||
| Hypothalamic/Pituitary Disorders of Thyroid Function | 1698 | ||
| Normal Thyroid Physiology | 1698 | ||
| Central Hypothyroidism | 1698 | ||
| Central Hyperthyroidism | 1698 | ||
| Hypothalamic Disorders of Appetite Regulation and Energy Balance | 1698 | ||
| Hypothalamic/Pituitary Disorders of Water Balance | 1700 | ||
| Diabetes Insipidus | 1700 | ||
| Syndrome of Inappropriate Antidiuretic Hormone Secretion | 1701 | ||
| Chapter 98: Disorders of the Autonomic Nervous System | 1703 | ||
| Introduction | 1703 | ||
| Anatomic, Physiologic, and Biochemical Basis of Autonomic Nervous System Function | 1703 | ||
| Embryologic Development | 1703 | ||
| The Peripheral Autonomic Nervous System | 1704 | ||
| The Central Autonomic Nervous System | 1705 | ||
| Neurotransmitters | 1706 | ||
| Clinical Features of Autonomic Dysfunction | 1707 | ||
| Vasovagal Syncope | 1707 | ||
| Orthostatic Hypotension | 1708 | ||
| Orthostatic Intolerance/Postural Tachycardia Syndrome | 1709 | ||
| Autonomic Disorders in Children and Adolescents | 1710 | ||
| Primary (Inherited) Autonomic Disorders | 1710 | ||
| Autonomic Disorders Associated with Developmental Arrest | 1710 | ||
| Hereditary sensory and autonomic neuropathies | 1710 | ||
| Familial Dysautonomia | 1711 | ||
| Hereditary Sensory and Autonomic Neuropathy Type IV (Congenital Insensitivity to Pain with Anhidrosis) | 1712 | ||
| Congenital Sensory Neuropathy (Hereditary Sensory and Autonomic Neuropathy Type II) | 1712 | ||
| Allgrove's syndrome | 1713 | ||
| Chromosomal disorders | 1713 | ||
| Rett's Syndrome | 1713 | ||
| Prader-Willi Syndrome | 1713 | ||
| Fragile X Syndrome | 1714 | ||
| Fragile X-Associated Tremor/Ataxia Syndrome | 1714 | ||
| Prematurity | 1714 | ||
| Dysregulation disorders | 1714 | ||
| Congenital Central Hypoventilation Syndrome | 1714 | ||
| Reflex Anoxic Seizures | 1715 | ||
| Autonomic Disorders Associated with Biochemical Errors | 1715 | ||
| Mitochondrial encephalomyopathies | 1715 | ||
| Neurotransmitter deficiencies | 1715 | ||
| Dopamine--Hydroxylase Deficiency | 1715 | ||
| Norepinephrine Transporter Deficiency | 1715 | ||
| Menkes' Disease | 1716 | ||
| Storage disorders | 1716 | ||
| Fabry's Disease | 1716 | ||
| Familial Amyloid Polyneuropathy | 1716 | ||
| Secondary Autonomic Disorders | 1717 | ||
| Autonomic Disorders Associated with Metabolic Diseases | 1717 | ||
| Endocrine Disorders | 1717 | ||
| Thyroid Disorders | 1717 | ||
| Diabetes Mellitus | 1717 | ||
| Addison's Disease | 1717 | ||
| Autoimmune Diseases | 1717 | ||
| Postinfectious disorders | 1717 | ||
| Idiopathic Autonomic Neuropathy and Paraneoplastic Disorders | 1717 | ||
| Chronic Fatigue Syndrome | 1718 | ||
| Psychosocial/Unknown | 1718 | ||
| Functional gastrointestinal disorders | 1718 | ||
| Cyclic Vomiting Syndrome | 1718 | ||
| Functional Abdominal Pain | 1719 | ||
| Autism | 1719 | ||
| Chapter 99: Disorders of Micturition and Defecation | 1720 | ||
| Disorders of Micturition | 1720 | ||
| Anatomy and Embryology | 1720 | ||
| Nerve Supply | 1721 | ||
| Pathophysiology | 1722 | ||
| Patient Evaluation | 1724 | ||
| History | 1724 | ||
| Neurologic Examination | 1725 | ||
| Clinical Laboratory Tests | 1726 | ||
| Differential Diagnosis | 1726 | ||
| Management | 1726 | ||
| Disorders of Defecation | 1728 | ||
| Anatomy and Embryology | 1728 | ||
| Nerve Supply | 1729 | ||
| Patient Evaluation | 1729 | ||
| History | 1729 | ||
| Neurologic Examination | 1729 | ||
| Clinical Laboratory Tests | 1729 | ||
| Differential Diagnosis | 1730 | ||
| Management | 1730 | ||
| Chapter 100: Poisoning and Drug-Induced Neurologic Diseases | 1731 | ||
| Introduction | 1731 | ||
| Emergency Evaluation and Management | 1732 | ||
| Testing | 1733 | ||
| Other Ancillary Testing | 1733 | ||
| Neurologic Examination | 1733 | ||
| Common Toxidromes | 1735 | ||
| Chronic Fatigue Syndrome and Related Disorders | 1739 | ||
| Specific Agents | 1739 | ||
| Poisons and Environmental Toxins | 1739 | ||
| Biologic Toxins | 1739 | ||
| Insecticides | 1740 | ||
| Nerve Agents | 1741 | ||
| Lindane | 1741 | ||
| Insect repellents | 1742 | ||
| Metals | 1742 | ||
| Lead | 1742 | ||
| Mercury | 1742 | ||
| Thallium | 1743 | ||
| Arsenic | 1743 | ||
| Solvents | 1743 | ||
| Other Nonpharmacologic Compounds | 1743 | ||
| Drugs of Abuse | 1744 | ||
| Cocaine | 1744 | ||
| Narcotics | 1744 | ||
| Cannabis | 1744 | ||
| Gamma-Hydroxybutyrate | 1744 | ||
| Volatile Solvents and Propellants | 1744 | ||
| Nitrous Oxide | 1745 | ||
| Hallucinogens | 1745 | ||
| Amphetamines | 1745 | ||
| ``Ecstasy´´ | 1745 | ||
| Ethanol | 1745 | ||
| Barbiturates | 1746 | ||
| Other Medications | 1746 | ||
| Benzodiazepines | 1746 | ||
| Other Sedatives | 1746 | ||
| Antipsychotic Agents (Neuroleptics) | 1746 | ||
| Antidepressants | 1747 | ||
| Lithium | 1747 | ||
| Salicylates and Acetaminophen | 1748 | ||
| Stimulants | 1748 | ||
| Theophylline | 1748 | ||
| Diphenhydramine | 1749 | ||
| Atropine and Related Alkaloids | 1749 | ||
| Drugs Used in Organ Transplantation | 1749 | ||
| Cyclosporine | 1749 | ||
| OKT3 | 1749 | ||
| Tacrolimus (FK-506) | 1750 | ||
| Antibiotics | 1750 | ||
| Chloramphenicol | 1750 | ||
| Nitrofurantoin | 1750 | ||
| Aminoglycosides | 1750 | ||
| Beta-Lactam Antibiotics | 1750 | ||
| Antiviral Agents | 1750 | ||
| Antineoplastic Drugs | 1750 | ||
| Vinca Alkaloids | 1750 | ||
| Methotrexate | 1751 | ||
| l-Asparaginase | 1751 | ||
| Platinum Agents | 1751 | ||
| Cytosine Arabinoside | 1751 | ||
| Cyclophosphamide and Ifosfamide | 1751 | ||
| Other Agents Used in Cancer Chemotherapy | 1751 | ||
| Steroids | 1752 | ||
| Radiographic Contrast Agents | 1752 | ||
| Adverse Drug Reactions | 1752 | ||
| Method of Preparation | 1752 | ||
| Technique of Drug Administration | 1752 | ||
| Pharmacogenetic Susceptibility | 1753 | ||
| Drug Interactions | 1753 | ||
| Developmental Immaturity | 1753 | ||
| Underlying Disease | 1754 | ||
| Neuroteratology | 1755 | ||
| Concluding Remarks and Additional Sources | 1757 | ||
| Internet Sites | 1757 | ||
| Chapter 101: Neurologic Disorders in Children with Heart Disease | 1758 | ||
| Introduction | 1758 | ||
| Neurologic Conditions Associated with Congenital Heart Disease | 1758 | ||
| Trends in Cardiac Surgery and Associated Neurologic Complications | 1758 | ||
| Neurologic Complications of Congenital Heart Disease Prior to Anatomic Intervention | 1759 | ||
| Brain Anomalies of Fetal Onset Associated with CHD | 1759 | ||
| Primary brain dysgenesis in congenital heart disease | 1759 | ||
| Acquired brain lesions in the fetus with congenital heart disease | 1761 | ||
| Acquired Neurologic Injury Between Birth and Anatomic Intervention | 1762 | ||
| Preoperative Neurologic Complications | 1762 | ||
| Neurologic Complications Following Anatomic Intervention | 1762 | ||
| Mechanisms of Neurologic Injury during Deep Hypothermic Cardiac Surgery | 1764 | ||
| Mechanisms of Neurologic Injury with Extracorporeal Membrane Oxygenation | 1766 | ||
| The Neurologic Outcome of Children Undergoing Extracorporeal Membrane Oxygenation | 1767 | ||
| Early Postoperative Manifestations of Neurologic Dysfunction | 1767 | ||
| Delayed Recovery of Consciousness | 1768 | ||
| Postoperative Seizures | 1769 | ||
| Postpump seizures | 1769 | ||
| Prognosis of postoperative seizures | 1769 | ||
| Stroke in the Early Postoperative Period | 1770 | ||
| Movement Disorders After Cardiac Surgery | 1770 | ||
| Spinal Cord Injury | 1772 | ||
| Peripheral Neuromuscular Injury | 1772 | ||
| Plexopathies | 1772 | ||
| Mononeuropathies | 1772 | ||
| Polyneuropathy and myopathy | 1773 | ||
| Late Postoperative Manifestations of Neurologic Dysfunction | 1773 | ||
| Late Postoperative Stroke | 1773 | ||
| Thromboembolic cardiogenic stroke | 1773 | ||
| Arteriopathic stroke | 1774 | ||
| Chronic Headache | 1775 | ||
| Long-Term Neurodevelopmental Dysfunction | 1775 | ||
| Neurologic Conditions Associated with Acquired Heart Disease | 1777 | ||
| Infectious and Parainfectious Conditions | 1777 | ||
| Infective Endocarditis | 1777 | ||
| Brain Abscess | 1778 | ||
| Rheumatic Heart Disease | 1779 | ||
| Inherited Disorders of Heart, Muscle, and Nervous System | 1780 | ||
| Inborn Errors of Metabolism | 1780 | ||
| Disorders of Energy Production | 1780 | ||
| Mitochondrial fatty acid oxidation defects | 1780 | ||
| Disorders of oxidative phosphorylation | 1781 | ||
| Storage Disorders of the Heart and Nervous System | 1781 | ||
| Glycogen storage diseases | 1781 | ||
| Lysosomal storage diseases | 1781 | ||
| Inherited Neuromuscular Disorders with Cardiac Complications | 1781 | ||
| X-linked muscular dystrophies | 1781 | ||
| Myotonic dystrophy | 1781 | ||
| Chapter 102: Interrelationships between Renal and Neurologic Diseases and Therapies | 1782 | ||
| Renal Diseases Secondarily Affecting the Nervous System | 1782 | ||
| Acute Renal Failure | 1782 | ||
| Water Intoxication, Hyponatremia, and Brain Edema | 1782 | ||
| Hyperkalemia | 1785 | ||
| Hypokalemia | 1786 | ||
| Uremic Encephalopathy | 1786 | ||
| Hypertensive Encephalopathy | 1791 | ||
| Posterior Reversible Encephalopathy Syndrome | 1792 | ||
| Complications of Chronic Renal Failure | 1795 | ||
| Congenital Uremic Encephalopathy | 1796 | ||
| Aluminum toxicity | 1797 | ||
| Stroke | 1797 | ||
| Malnutrition | 1798 | ||
| Endocrinopathy | 1798 | ||
| Complications of Dialysis | 1798 | ||
| Dialysis Disequilibrium Syndrome | 1799 | ||
| Dialysis-Associated Seizures | 1799 | ||
| Vitamin and Co-factor Deficiencies | 1800 | ||
| Progressive Dialysis (Aluminum) Encephalopathy (Dementia) | 1800 | ||
| Intracranial Hemorrhage | 1801 | ||
| Milder Forms of Encephalopathy | 1801 | ||
| Uremic Peripheral Polyneuropathy (Neuropathy of Chronic Renal Failure) | 1801 | ||
| Uremic Myopathy (Myopathy of Chronic Renal Failure) | 1804 | ||
| Complications of Transplantation | 1805 | ||
| Graft Failure or Rejection | 1805 | ||
| Infection | 1805 | ||
| Tumor | 1806 | ||
| Stroke | 1806 | ||
| Drugs | 1806 | ||
| Diseases Affecting Both Kidney and Nervous System | 1807 | ||
| Thrombotic Thrombocytopenic Purpura | 1807 | ||
| Hemolytic-Uremic Syndrome | 1808 | ||
| Treatment | 1808 | ||
| Vasculitic Diseases with Neurologic-Renal Presentations | 1809 | ||
| Hepatorenal Syndrome | 1809 | ||
| Amyloidosis | 1810 | ||
| Metabolic Diseases Producing Generalized Renal and Neurologic Dysfunction | 1812 | ||
| Selective Tubular Dysfunction | 1812 | ||
| Proximal Renal Tubular Acidosis | 1813 | ||
| Nephropathic Cystinosis | 1813 | ||
| Neurologic Drugs that May Affect Renal Function in Individuals with Normal Kidneys | 1814 | ||
| Drug Therapy in Renal Disease | 1817 | ||
| Drug-Induced Encephalopathy in Renal Failure | 1817 | ||
| Treatment of Seizures Associated with Renal Disease | 1818 | ||
| Concerns about Specific Antiseizure Medication Utilization in the Setting of Renal Failure | 1818 | ||
| Phenytoin | 1818 | ||
| Valproate | 1818 | ||
| Barbiturates | 1818 | ||
| Carbamazepine | 1818 | ||
| Oxcarbazepine | 1819 | ||
| Ethosuximide | 1819 | ||
| Levetiracetam | 1819 | ||
| Zonisamide | 1819 | ||
| Lamotrigine | 1819 | ||
| Gabapentin | 1819 | ||
| Benzodiazepines | 1819 | ||
| Kidney Stones | 1819 | ||
| Other Neurologic Drugs | 1820 | ||
| Chapter 103: Neurologic Disorders Associated with Gastrointestinal Diseases and Nutritional Deficiencies | 1821 | ||
| Introduction | 1821 | ||
| Neurologic Complications of Common Gastrointestinal and Liver Diseases | 1821 | ||
| Disorders Associated with Gastrointestinal Disease | 1821 | ||
| The Enteric Nervous System | 1821 | ||
| Dysphagia | 1822 | ||
| Episodic Gastrointestinal Disease | 1822 | ||
| Cyclic Vomiting Syndrome and Recurrent Abdominal Pain | 1822 | ||
| Anatomic Gastrointestinal Disorders | 1823 | ||
| Gastroesophageal Reflux | 1823 | ||
| Intestinal Pseudo-Obstruction | 1824 | ||
| Hirschsprung's disease | 1825 | ||
| Other pseudo-obstruction syndromes | 1826 | ||
| Intussusception | 1826 | ||
| Malabsorption Syndromes | 1826 | ||
| Celiac Disease | 1826 | ||
| Short Bowel Syndrome | 1828 | ||
| Inflammatory Bowel Disease | 1828 | ||
| Enteric Infections | 1829 | ||
| Escherichia coli | 1829 | ||
| Campylobacter jejuni | 1829 | ||
| Nipah Virus | 1829 | ||
| Infant Botulism | 1829 | ||
| Shigellosis | 1830 | ||
| Rotavirus Infection | 1830 | ||
| Other Gastrointestinal Diseases | 1830 | ||
| Whipple's Disease | 1830 | ||
| Turcot's Syndrome | 1831 | ||
| Porphyria | 1831 | ||
| Neurologic Disorders Associated with Hepatobiliary Diseases | 1832 | ||
| Introduction | 1832 | ||
| Hepatitis | 1832 | ||
| Hepatic Encephalopathy | 1833 | ||
| Neurologic Abnormalities | 1833 | ||
| Fulminant liver failure | 1834 | ||
| Cognitive and behavioral abnormalities | 1834 | ||
| Minimal hepatic encephalopathy | 1834 | ||
| Laboratory Tests | 1835 | ||
| Neuropathology and Pathophysiology | 1835 | ||
| Treatment | 1837 | ||
| Prognosis | 1837 | ||
| Neurologic Abnormalities Associated with Liver Transplantation | 1837 | ||
| Neurologic Abnormalities in Primary Biliary Cirrhosis | 1838 | ||
| Reye's Syndrome | 1838 | ||
| Hepatolenticular Degeneration: Wilson's Disease | 1839 | ||
| Pathogenesis | 1839 | ||
| Therapy | 1841 | ||
| Progressive Hepatocerebral Disease | 1842 | ||
| Bilirubin Encephalopathy: Kernicterus | 1842 | ||
| Disorders of Nutrition | 1843 | ||
| Protein-Energy Malnutrition | 1844 | ||
| Anatomic and Biochemical Effects of Undernutrition | 1844 | ||
| Acute Effects on Behavior and Cognition | 1846 | ||
| Treatment | 1846 | ||
| Disorders Associated with Vitamin Deficiencies or Excesses | 1847 | ||
| Vitamin A (Retinol) | 1847 | ||
| Vitamin A deficiency | 1848 | ||
| Vitamin A intoxication | 1848 | ||
| Vitamin A teratogenesis | 1849 | ||
| Thiamine (Vitamin B1) | 1849 | ||
| Thiamine deficiency | 1849 | ||
| Thiamine dependency | 1850 | ||
| Riboflavin (Vitamin B2) | 1850 | ||
| Riboflavin deficiency | 1850 | ||
| Riboflavin dependency | 1850 | ||
| Riboflavin-Dependent Glutaric Acidemia Type I | 1850 | ||
| Riboflavin-Dependent Multiple Acyl-CoA Dehydrogenase Deficiency | 1851 | ||
| Riboflavin-Responsive Isolated Complex II Deficiency | 1851 | ||
| Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency | 1851 | ||
| Niacin (Vitamin B3) | 1851 | ||
| Niacin deficiency | 1852 | ||
| Niacin dependency | 1852 | ||
| Pyridoxine (Vitamin B6) | 1852 | ||
| Pyridoxine deficiency | 1852 | ||
| Pyridoxine dependency | 1853 | ||
| Pyridoxine-Dependent Epilepsy | 1853 | ||
| Pyridox(am)ine-5-Phosphate Oxidase | 1853 | ||
| Hyperprolinemia Type II | 1854 | ||
| Hypophosphatasia | 1854 | ||
| Aromatic L-Amino Acid Decarboxylase Deficiency | 1854 | ||
| Ornithinemia | 1854 | ||
| Cystathioninuria | 1854 | ||
| Pyridoxine intoxication | 1854 | ||
| Cobalamin (Vitamin B12) | 1855 | ||
| Cobalamin deficiency | 1855 | ||
| B12 Deficiency and Development | 1856 | ||
| B12 Deficiency During Infancy and Childhood | 1856 | ||
| Cobalamin dependency | 1857 | ||
| Vitamin C (Ascorbic Acid) | 1857 | ||
| Vitamin C deficiency | 1857 | ||
| Transient Neonatal Tyrosinemia | 1858 | ||
| Vitamin D | 1858 | ||
| Vitamin D deficiency | 1859 | ||
| Vitamin D dependency | 1859 | ||
| Vitamin D intoxication | 1859 | ||
| Tocopherol (Vitamin E) | 1859 | ||
| Vitamin E deficiency | 1860 | ||
| Biotin (Vitamin H) | 1860 | ||
| Biotin deficiency | 1860 | ||
| Biotin dependency | 1861 | ||
| Biotinidase Deficiency (Late-Onset Multiple Carboxylase Deficiency) | 1861 | ||
| Biotin-Dependent Propionic Acidemia | 1861 | ||
| Biotin-Dependent Holocarboxylase Synthetase Deficiency (Neonatal Multiple Carboxylase Deficiency) | 1861 | ||
| Vitamin K | 1861 | ||
| Vitamin K deficiency | 1862 | ||
| Folate (Vitamin M) | 1862 | ||
| Folate deficiency | 1863 | ||
| Folate and pregnancy | 1863 | ||
| Effects on brain development | 1863 | ||
| Neural Tube and Other Nervous System Defects | 1863 | ||
| Cognitive Impairments | 1863 | ||
| Cerebral Folate Deficiency Associated with Autoantibodies | 1864 | ||
| Folate dependency | 1864 | ||
| Hereditary Folate Malabsorption | 1864 | ||
| Folate-Dependent Dihydrofolate Reductase Deficiency | 1864 | ||
| Folate-Dependent Glutamate Formiminotransferase Deficiency | 1864 | ||
| Methylenetetrahydrofolate Reductase Deficiency | 1864 | ||
| Iodine Deficiency | 1865 | ||
| Zinc Deficiency | 1866 | ||
| Chapter 104: Neurologic Complications of Immunization | 1867 | ||
| Assessing Causality | 1867 | ||
| Vaccine Injury Compensation Program | 1868 | ||
| Types of Vaccines | 1868 | ||
| Vaccines Composed of Whole-Killed Organisms | 1868 | ||
| Inactivated Polio Vaccine | 1868 | ||
| Influenza Virus Vaccine | 1869 | ||
| Guillain-barré syndrome | 1870 | ||
| Multiple sclerosis | 1870 | ||
| Bell's palsy | 1870 | ||
| Rabies Vaccine | 1870 | ||
| Whole-Cell Pertussis Vaccine | 1871 | ||
| Hepatitis A Vaccine | 1871 | ||
| Vaccines Composed of Live-Attenuated Viruses | 1871 | ||
| Measles: Rubeola | 1871 | ||
| Mumps | 1871 | ||
| Rubella | 1872 | ||
| Oral Polio Vaccine | 1872 | ||
| Varicella | 1872 | ||
| Smallpox | 1872 | ||
| Rotavirus | 1873 | ||
| Component Vaccines | 1873 | ||
| Acellular Pertussis Vaccine | 1873 | ||
| Meningococcal Conjugate Vaccine | 1873 | ||
| Haemophilus influenzae Type b | 1873 | ||
| Pneumococcal Conjugated Vaccine | 1873 | ||
| Human Papillomavirus Vaccine | 1873 | ||
| Tetanus and Diphtheria | 1874 | ||
| Recombinant Vaccines | 1874 | ||
| Hepatitis B Vaccine | 1874 | ||
| Combination Vaccines and Additives | 1874 | ||
| Mumps, Measles, and Rubella Vaccine and Autism | 1874 | ||
| Thimerosal-Containing Vaccines and Developmental Disorders of Childhood | 1874 | ||
| Part XVII: Care of the Child with Neurologic Disorders | 4 | ||
| Chapter 105: Pediatric Neurorehabilitation Medicine | e234 | ||
| Introduction | e234 | ||
| Mechanisms Underlying Functional Recovery in the Nervous System | e234 | ||
| Resolution of Temporary Dysfunction | e235 | ||
| Reorganization of Neuronal Connections | e235 | ||
| Plasticity of the Nervous System | e236 | ||
| Mechanisms of Late Recovery | e236 | ||
| Principles of Pediatric Neurorehabilitation | e236 | ||
| Medical Aspects of Acute Pediatric Rehabilitation Management | e237 | ||
| Comprehensive Pediatric Rehabilitation Programs | e238 | ||
| Management of Spasticity | e239 | ||
| Overview | e239 | ||
| Rehabilitation Therapy | e239 | ||
| Oral Medications | e240 | ||
| Neuromuscular Blockade: Alcohol, Phenol, and Botulinum Toxin Injections | e242 | ||
| Intrathecal Baclofen Therapy | e243 | ||
| Selective Dorsal Rhizotomy | e244 | ||
| Orthopedic Surgery | e244 | ||
| Acquired Brain Injury | e244 | ||
| Behavioral Disturbances | e245 | ||
| Communication and Cognitive Deficits | e245 | ||
| Post-Traumatic Seizures | e246 | ||
| Spinal Cord Injury | e246 | ||
| Pulmonary Issues | e246 | ||
| Bowel and Bladder Dysfunction | e247 | ||
| Autonomic Dysreflexia | e247 | ||
| Heterotopic Ossification | e247 | ||
| Other Medical Issues | e248 | ||
| Rehabilitation Strategies | e248 | ||
| Future Directions | e248 | ||
| Chapter 106: Pain Management and Palliative Care | e250 | ||
| Pain Management | e250 | ||
| Introduction | e250 | ||
| Historical Background | e250 | ||
| Physiology | e250 | ||
| Developmental Differences | e251 | ||
| Clinical Assessment | e251 | ||
| Management | e253 | ||
| Types of Pain Medications | e253 | ||
| Aspirin, Acetaminophen, and NSAIDs | e253 | ||
| Opioids | e253 | ||
| Procedural Sedation and Analgesia | e255 | ||
| Analgesia | e255 | ||
| Sedation | e255 | ||
| Types of Pain | e255 | ||
| Neuropathic Pain | e255 | ||
| Pain in Children with Significant Neurological Impairment | e256 | ||
| Migraine and Headache | e256 | ||
| Summary | e256 | ||
| Palliative Care | e256 | ||
| Introduction | e256 | ||
| Historical Background | e257 | ||
| Definitions of Palliative Care | e257 | ||
| Components of Palliative Care | e258 | ||
| Identifying the Need | e258 | ||
| Transition in Goals of Care | e258 | ||
| Levels of Care | e258 | ||
| Communication | e259 | ||
| Health Care Decision-Making | e260 | ||
| Persistent Vegetative State | e260 | ||
| Environment for Death and Dying | e260 | ||
| Support During Dying | e260 | ||
| Assessment and Treatment of Symptoms | e261 | ||
| Developmental, Emotional and Spiritual Concerns | e261 | ||
| Bereavement | e261 | ||
| Follow-Up Conference | e261 | ||
| Barriers to Palliative Care | e263 | ||
| Summary | e263 | ||
| Chapter 107: Ethical Issues in Child Neurology | e264 | ||
| Introduction | e264 | ||
| Theoretical Approaches to Ethics | e264 | ||
| Utilitarianism | e265 | ||
| Deontology | e265 | ||
| Common Morality and Natural Law | e265 | ||
| Principlism | e266 | ||
| Virtue or Character Ethics | e267 | ||
| Ethics of Care | e267 | ||
| Casuistry | e267 | ||
| Spirituality | e268 | ||
| Ethical Responsibilities | e268 | ||
| Duties as a Physician | e268 | ||
| Duties as a Pediatrician | e269 | ||
| Duties as a Neurologist | e270 | ||
| Research | e271 | ||
| Ethical Problems | e271 | ||
| Personhood | e271 | ||
| Euthanasia | e272 | ||
| Organ Donation | e273 | ||
| Perfection and Neuroethics | e273 | ||
| Synthesis | e274 | ||
| Chapter 108: The Impact of Computer Resources on Child Neurology | e275 | ||
| Clinical Discussions and Groups | e275 | ||
| Authoritative Narrative Content | e277 | ||
| Wikis | e277 | ||
| Diagnostic Decision Support | e278 | ||
| Treatment Decision Support | e278 | ||
| Interoperability | e279 | ||
| Education | e280 | ||
| Dissemination of Original Research | e280 | ||
| Hardware | e281 | ||
| Perspectives | e281 | ||
| Conflict of Interest | e281 | ||
| Index | i1 |