Symptom-Based Approach to Pediatric Neurology

Preface
Contents
Neurological Examination of Children
1 Introduction
2 Neurological Examination of Infants
3 Neurological Examination of a Preschool-Aged Child
4 Neurological Examination of a School-Aged Child
5 Special Maneuvers and Important Pointers
6 Clinical Pearls/Key Points
References
Child with Altered Mental Status
1 Introduction
2 Epidemiology
3 Etiology
4 Diagnostic Approach
4.1 Initial Approach and Acute Stabilization
4.2 History
4.3 Physical Examination
4.3.1 General Examination
4.3.2 Neurologic Examination
4.4 Evaluation
4.4.1 Laboratory
4.4.2 Neuroimaging
4.4.3 Electroencephalogram
5 Treatment/Management
6 Outcomes
7 When to Refer/Admit
8 Clinical Pearls
References
Child with Global Developmental Delay
1 Introduction
2 Epidemiology
3 Etiology
3.1 Prenatal/Perinatal Causes
3.2 Postnatal Trauma/Illness
3.3 Lead Exposure
3.4 Iron Deficiency
3.5 Hypothyroidism
3.6 Neglect
3.7 Brain/CNS Malformation
3.8 Chromosome Abnormalities
3.9 Single Gene Disorders
3.10 Metabolic Disorders
4 Differential Diagnosis
5 Diagnostic Approach
5.1 History
5.1.1 Physical Examination
5.1.2 Neurologic Examination:
5.2 Laboratory Investigations/Imaging
5.3 Other Evaluation
5.4 Genetic Testing
5.5 Testing for Metabolic Disorders
6 Treatment/Management
7 Prognosis/Outcomes
8 When to Refer/Admit
9 Prevention
10 Clinical Pearls/Key Points
References
Child with Suspected Autism
1 Introduction
2 Epidemiology
3 Diagnostic Approach
3.1 History
3.2 Physical Examination
3.3 Screening
3.4 Diagnosis
3.5 Etiologic Investigations and Differential Diagnoses
4 Management
4.1 Interventional Therapies
4.2 Comorbidities: Identification and Management
4.2.1 ADHD
4.2.2 Epilepsy
4.2.3 Sleep
4.2.4 Visual Problems
4.2.5 Gastrointestinal Symptoms and Feeding Issues
4.2.6 Obesity
4.2.7 Dental
4.2.8 Disruptive Behavior Disorders
4.2.9 Psychiatric Disorders
4.3 Psychopharmacology
4.4 Outcomes/Prognosis
References
Child with Attention Deficit Disorder/Child with Attention Deficit Hyperactivity Disorder (ADHD)
1 Background
1.1 Introduction
1.2 Epidemiology
1.3 Etiology
2 Diagnosis
2.1 Presentation
2.2 Evaluation
2.2.1 History
2.2.2 Physical Examination
2.3 Differential Diagnosis
3 Management
3.1 Overview
3.2 Medications
3.3 Behavioral Treatment
3.4 When to Refer
4 Prognosis
5 Prevention
6 Pearls/Key Points
References
Child with Alterations of Mood
1 Introduction
2 Epidemiology
3 Etiology
3.1 Genetic Factors
3.2 Nongenetic Factors
4 Differential Diagnosis
5 Diagnostic Approach
5.1 History and Physical Examination
5.2 Laboratory Assessment
6 Treatment/Management
6.1 Evidence-Based Psychotherapy
6.2 Antidepressant Medications
6.2.1 Selective Serotonin Reuptake Inhibitors (SSRIs)
6.2.2 Prozac (Fluoxetine)
6.2.3 Lexapro (Escitalopram)
6.2.4 Celexa (Citalopram)
6.2.5 Zoloft (Sertraline)
6.3 Other Antidepressant Medications
6.3.1 Serotonin-Norepinephrine Reuptake Inhibitors (SNRI)
6.3.2 Mirtazapine
6.3.3 Buspirone
6.4 Mood-Stabilizing and Antipsychotic Medications
6.5 TADS Study
6.6 TORDIA Study
6.7 Prescribing Antidepressant Medications After the FDA Black Box Warnings
6.8 Self-care Strategies
7 Prognosis/Outcomes
8 When to Refer/Admit
8.1 Suicidal Behavior: Assessment and Management
9 Prevention
10 Clinical Pearls/Key Points
References
Child with New Onset Convulsive Seizure
1 Introduction
2 Epidemiology
3 Etiology
4 Provoked Seizures
5 Differential Diagnoses
6 Diagnostic Approach
6.1 History
6.2 Physical Examination
6.3 Evaluation
6.3.1 Laboratory Investigations
6.4 Electroencephalogram (EEG)
6.5 Neuroimaging
6.6 Treatment/Management
6.7 Outcome
7 When to Hospitalize?
8 When to Refer to a Pediatric Neurologist?
9 Clinical Pearls/Key Points
10 Conclusion
References
Neonate/Infant with Seizures
1 Neonatal Onset Seizures
1.1 Introduction
1.2 Important Definitions
1.3 Epidemiology
1.4 Seizure Semiology in the Neonate [5]: Table 1
1.5 Electrographic Only or Subclinical Seizures
1.6 Common Etiologies of Neonatal Seizures
1.6.1 Hypoxic Ischemic Encephalopathy (HIE)
1.6.2 Perinatal Stroke
1.6.3 Intracranial Hemorrhage
1.6.4 Infections of the Central Nervous System (CNS)
1.6.5 Metabolic Disturbances
1.6.6 Inborn Errors of Metabolism
1.7 Neonatal Genetic Epilepsy
1.8 Genetic Epilepsy Syndromes in the Neonate
1.9 Diagnostic Approach
1.9.1 History
1.9.2 Physical Examination
1.9.3 Initial Evaluation of Neonatal Seizures
1.10 Differential Diagnosis of Neonatal Seizures [15]
1.10.1 Treatment of Neonatal Seizures
1.10.2 Mechanism of Action and Suggested Dosing
1.10.3 Prognosis/Outcome
1.10.4 When to Refer to a Tertiary Care Center
2 Infantile Seizures
2.1 Introduction
2.2 Epidemiology
2.3 Etiology
2.3.1 Electroclinical Syndromes
2.4 Diagnostic Approach
2.4.1 History
2.4.2 Physical Examination
2.5 Differential Diagnosis
2.6 Evaluation
2.7 Syndromic DEE (Developmental Epileptic Encephalopathy)
2.8 Treatment/Management [23, 37]
2.8.1 Novel Treatments
2.9 Prognosis/Outcomes
2.10 When to Refer/Admit
2.11 Prevention
3 Clinical Pearls/Key Points
References
Child with Febrile Seizures
1 Introduction
2 Epidemiology
3 Etiology
4 Differential Diagnosis
5 Diagnostic Approach
5.1 History
5.2 Physical Examination
5.3 Evaluation (Laboratory Studies/Imaging)
6 Treatment
6.1 Management of an Acute Seizure
6.2 Use of Antipyretics
7 Prognosis
7.1 Recurrence of Febrile Seizures
7.2 Epilepsy and Febrile Seizures
7.3 Neurologic Dysfunction
8 When to Refer/Admit
9 Prevention of Febrile Seizures
10 Clinical Pearls/Key Points
References
Child with Epilepsy
1 Childhood Absence Epilepsy (CAE)
2 Benign Epilepsy of Childhood with Centrotemporal Spikes (BECTS)/Self-Limited Epilepsy with Centrotemporal Spikes (SeLECTS)
3 Juvenile Myoclonic Epilepsy (JME)
4 Lifestyle Modifications and Counseling
References
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Status Epilepticus
1 Introduction
1.1 Definitions
2 Epidemiology
3 Etiology
4 Differential Diagnosis
5 Diagnostic Approach
5.1 History
5.2 Physical Examination
5.3 Evaluation (Laboratory Investigations/Imaging/Other Tests)
6 Treatment/Management
7 Prognosis/Outcomes
8 When to Refer or Admit
9 Prevention
10 Clinical Pearls/Key Points
References
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Child with Syncope
1 Introduction
2 Epidemiology
3 Etiology
4 Neurally Mediated Syncope
4.1 Orthostatic Intolerance Syndromes
4.2 Orthostatic Intolerance and Orthostatic Hypotension
4.3 Neurocardiogenic Syncope (Vasovagal Syncope)
4.4 Postural Orthostatic Tachycardia Syndrome (POTS)
5 Cardiac Syncope
5.1 Hypertrophic Obstructive Cardiomyopathy (HOCM)
5.2 Aortic Stenosis
5.3 Congenital Coronary Artery Abnormalities
5.4 Pulmonary Hypertension
5.5 Long QT Syndrome
5.6 Other Dysrhythmias
6 Differential Diagnosis
7 Diagnostic Approach
7.1 History
7.2 Physical Examination
7.3 General Examination
7.4 Neurological Examination
7.5 Evaluation (Laboratory Studies/Imaging)
8 Treatment/Management and Prevention
9 Prognosis/Outcomes
10 When to Refer/Admit
11 Clinical Pearls/Key Points
References
Child with Sleep Disturbances
1 Introduction
2 Insomnia
3 Restless Leg Syndrome/Periodic Limb Movement Disorder of Sleep
4 Delayed Sleep Wake Phase Disorder
5 Parasomnias
6 Narcolepsy
7 Clinical Pearls/Key Points
8 Conclusion
References
Child with Unilateral or Bilateral Vision Loss
1 Introduction
2 Epidemiology
3 Etiology and Differential Diagnosis
3.1 Amblyopia and Strabismus
3.2 Refractive Errors
3.3 Cortical Visual Impairment (Disorders of the Posterior Pathway)
3.4 Delayed Visual Maturation
3.4.1 Perinatal Infectious Exposure
3.4.2 Xerophthalmia
3.4.3 Hereditary Retinal Disorders
3.4.4 Optic Disc Anomalies
3.4.5 Optic Atrophy
3.4.6 Other Optic Neuropathies
3.4.7 Tumors of Visual System
3.4.8 Phakomatoses
3.4.9 Transient and Psychogenic Visual Loss
4 Diagnostic Approach
4.1 History
4.2 Physical Examination
4.2.1 Nystagmus
5 Evaluation
6 Treatment and Management
7 Prognosis and Outcome
8 When to Refer
9 Prevention
10 Clinical Pearls/Key points
References
Child with Diplopia
1 My Child’s Eyes Are Misaligned/My Child Complains of Double Vision
1.1 Introduction
1.2 Epidemiology
1.3 Horizontal Deviation
1.3.1 Nonparalytic Horizontal Deviation
Esotropia
Infantile Esotropia
Accommodative Esotropia
Acquired Nonaccommodative Esotropia
Exotropia
Exophoria
Intermittent Exotropia
1.3.2 Paralytic Horizontal Deviations
Abducens (Cranial Nerve 6) Palsy
Congenital CN6 Palsy
Acquired CN6 Palsy
Differential Diagnosis
Diagnostic Approach
Treatment
Oculomotor (Cranial Nerve 3) Palsy
Congenital CN3 Palsy
Acquired CN3 Palsy
Differential Diagnosis
Diagnostic Approach
Treatment
Internuclear Ophthalmoplegia (INO)
1.4 Vertical Deviations
1.4.1 Paralytic Vertical Deviations
Trochlear (Cranial Nerve 4) Nerve Palsy
Congenital CN4 Palsy
Acquired CN4 Palsy
Differential Diagnosis
Diagnostic Approach
Treatment
1.4.2 Nonparalytic Vertical Deviations
Brown Syndrome
Skew Deviation
1.5 Other Causes of Horizontal or Vertical Diplopia
1.5.1 Thyroid Eye Disease
1.5.2 Ophthalmoplegic Migraine
1.6 History
1.7 Examination
1.8 Prognosis and Outcomes
1.9 When to Refer/Admit
1.10 Prevention
2 My Child’s Eyes Are “Wiggling or Bouncing”
2.1 Introduction
2.2 Epidemiology
2.3 Types of Nystagmus
2.3.1 Congenital Nystagmus
2.3.2 Latent Nystagmus
2.3.3 Opsoclonus
2.3.4 Spasmus Nutans
2.4 Differential Diagnosis
2.5 History
2.6 Examination
2.7 When to Refer
2.8 Treatment
2.9 Prognosis/Outcomes
2.10 Prevention
3 My Child Has “Droopy Eyelids/Sleepy Eyes”
3.1 Ptosis
3.2 Etiology/Differential Diagnosis
3.2.1 Congenital Ptosis
3.2.2 Acquired Ptosis
3.3 History
3.4 Examination
3.5 When to Refer
3.6 Treatment
3.7 Prognosis/Outcomes
3.8 Prevention
4 Other Eye Movement Disorders of Childhood
4.1 Horizontal Gaze Palsy
4.2 Vertical Gaze Palsy
4.3 History
4.4 Examination
4.5 When to Refer
4.6 Treatment
4.7 Prognosis Outcome
4.8 Prevention
5 Clinical Pearls/Key Points
References
Child with Facial Weakness
1 Epidemiology
2 Etiology
3 Differential Diagnosis
4 Diagnostic Approach
4.1 History
4.2 Physical Examination
4.2.1 General Examination
4.3 Neurological Examination
5 Diagnostic Investigations
6 Treatment/Management
7 Prognosis/Outcome
8 When to Refer/Admit
9 Clinical Pearls/Key Points
References
Hearing Loss in Children
1 Introduction
2 Epidemiology
3 Pathophysiology
4 Genetic Hearing Loss
4.1 Conductive Hearing Loss
4.2 Sensorineural Hearing Loss
4.2.1 Nonsyndromic Hearing Loss
4.2.2 Syndromic Hearing Loss
5 Environmental Causes for Hearing Loss
5.1 Congenital Cytomegalovirus Infection
5.2 Childhood Infections
5.3 Trauma
5.4 Ototoxins
5.5 Auditory Neuropathy Spectrum Disorders
5.6 Autoimmune-Related Hearing Loss
5.7 Neoplasms
6 Diagnostic Approach
6.1 History
6.2 Physical Examination
6.2.1 General Examination
6.2.2 Neurologic Examination
6.2.3 Evaluation
6.2.4 Audiologic Evaluation
6.2.5 Laboratory Testing
6.2.6 Imaging Studies
6.2.7 Additional Testing
6.2.8 Consultations
7 Treatment/Management
7.1 Conductive Hearing Loss and Mixed Hearing Loss
7.1.1 Mixed Hearing Loss
7.2 Sensorineural Hearing Loss
8 Prognosis/Outcomes
9 When to Refer
10 Clinical Pearls/Key Points
References
Worst Headache of Their Life
1 Introduction
2 Etiology
2.1 Subarachnoid Hemorrhage
2.1.1 Clinical Presentation
2.1.2 Diagnosis/Evaluation
2.1.3 Management and Prognosis
2.2 Reversible Cerebral Vasoconstriction Syndrome
2.2.1 Clinical Presentation
2.2.2 Diagnosis/Evaluation
2.2.3 Management and Prognosis
2.3 Cervical Arterial Dissection
2.3.1 Clinical Presentation
2.3.2 Diagnosis/Evaluation
2.3.3 Management and Prognosis
2.4 Cerebral Venous Sinus Thrombosis
2.4.1 Clinical Presentation
2.4.2 Diagnosis/Evaluation
2.4.3 Management and Prognosis
2.5 Pituitary Apoplexy
2.5.1 Clinical Presentation
2.5.2 Diagnosis/Evaluation
2.5.3 Management and Prognosis
2.6 Third Ventricle Colloid Cyst
2.6.1 Clinical Presentation
2.6.2 Diagnosis/Evaluation
2.6.3 Management and Prognosis
2.7 Primary Exercise Headache
2.7.1 Clinical Presentation
2.7.2 Diagnosis/Evaluation
2.7.3 Management and Prognosis
2.8 Primary Thunderclap Headache
2.8.1 Clinical Presentation
2.8.2 Diagnosis/Evaluation
2.8.3 Management and Prognosis
3 Diagnostic Approach to a Worst-Ever Headache
3.1 History
3.2 Physical Examination
3.3 Investigations (Laboratory Investigations/Imaging)
4 When to Admit or Refer
5 Clinical Pearls/Key Points
References
Child with Chronic Headache
1 Introduction
2 Epidemiology
3 Etiology
4 Differential Diagnosis
5 Diagnostic Approach
5.1 History
5.2 Physical Examination
5.2.1 General Physical Examination
5.3 Neurological Examination
6 Evaluation (Laboratory Investigations/Imaging)
7 Treatment/Management
8 Prognosis/Outcomes
9 When to Refer/Admit
10 Prevention
11 Clinical Pearls/Key Points
References
Child with New Onset Headache
1 Introduction
2 Epidemiology
3 Etiology/Pathophysiology
4 Differential Diagnosis of New Onset Headache
4.1 Primary Headache Disorders
4.1.1 Migraine
4.1.2 Tension-Type Headache
4.1.3 Other Primary Headache Syndromes
4.2 Secondary Headaches
4.2.1 Headaches Attributed to Abnormal Intracranial Pressures
4.2.2 Headache Attributed to Vascular Intracranial Disorder
4.2.3 Headache Attributed to Head Trauma (Post-Traumatic)
4.2.4 Headache Attributed to Infection
5 Diagnostic Approach
5.1 History
5.1.1 Headache Onset and Pattern
5.1.2 Headache Characteristics
5.1.3 Associated Symptoms
5.2 Physical Examination
5.3 Evaluation (Laboratory Investigations/Imaging)
5.4 Treatment
6 Prognosis/Outcome
7 When to Refer/Admit
8 Prevention
9 Clinical Pearls/Key Points
References
Child with New Onset Paraparesis
1 Introduction
2 Epidemiology and Etiology
3 Intrinsic Lesions
3.1 Inflammatory, Para-Infectious, and Postinfectious Causes
3.2 Ischemia
3.3 Tumors
4 Extrinsic Lesions
4.1 Infectious
4.2 Trauma
4.3 Tumor
4.4 Differential Diagnosis
5 Diagnostic Approach
5.1 History
5.2 Physical Examination
5.2.1 General Examination
5.2.2 Neurological Examination
6 Evaluation (Laboratory Tests and Imaging)
7 Treatment/Management
8 Prognosis/Outcomes
9 When to Refer/Admit
10 Clinical Pearls/Key Points
References
Child with New Onset Hemiparesis
1 Introduction
2 Epidemiology
3 Etiology/Differential Diagnosis
4 Diagnostic Approach
4.1 History
4.2 Physical Examination
4.2.1 General Examination
4.2.2 Neurological Examination
4.3 Evaluation (Laboratory Studies/Imaging)
4.4 Treatment/Management
4.4.1 General Stroke Management
4.4.2 Hemorrhagic Stroke
4.4.3 CSVT
4.4.4 Arterial Ischemic Stroke
5 Prognosis/Outcomes
6 When to Refer/Admit
7 Prevention
8 Clinical Pearls/Key Points
References
Child with Tics and Other Common Movement Disorders
1 Introduction/Definition
2 Epidemiology
3 Etiology
3.1 Environmental Factors
3.2 Genetic Etiology
3.3 Immunologic Mechanisms
4 Diagnostic Approach
4.1 History
4.1.1 Attention-Deficit Hyperactivity Disorder
4.1.2 Obsessive-Compulsive Disorder
4.1.3 Anxiety and Depression
4.1.4 Other Neuropsychological Symptoms
4.1.5 Sleep Disorders
4.1.6 Headache
4.1.7 Learning Disability
4.2 Physical Examination
5 Evaluation (Laboratory Evaluation/Imaging)
6 Treatment and Management
6.1 Behavioral Therapy
6.2 Other Nonpharmacological Treatments
6.3 Pharmacological Treatment Options
6.3.1 First-Line Medications
6.3.2 Second-Line Medications
6.4 Other Treatment Options
7 Prognosis and Outcomes
8 When to Refer and Admit
9 Prevention
10 Differential Diagnosis
11 Clinical Pearls and Key Points
References
Child with Congenital and Acquired Torticollis
1 Part 1: Infant with Congenital Muscular Torticollis (CMT)
1.1 Introduction
1.2 Epidemiology
1.3 Etiology
1.4 Differential Diagnosis
1.5 Diagnostic Approach
1.5.1 History
1.5.2 Physical Examination
General Examination
1.5.3 Evaluation (Laboratory Testing/Imaging)
1.6 Treatment/Management
1.7 Prognosis/Outcomes
1.8 When to Refer
1.9 Prevention
2 Part 2: Child with Acquired Torticollis
2.1 Introduction
2.2 Epidemiology
2.3 Etiology
2.4 Differential Diagnosis
2.5 Diagnostic Approach
2.5.1 History
2.5.2 Physical Examination
Head and Neck
Neurological Examination
2.5.3 Evaluation (Laboratory Testing and Imaging)
Trauma and Injuries
Infections and Inflammation
2.6 Treatment and Management
2.7 Prognosis and Outcomes
2.8 When to Refer or Admit
3 Clinical Pearls and Key Points
References
Child with Microcephaly or Macrocephaly
1 Introduction
2 Epidemiology
3 Etiology
3.1 Macrocephaly
3.1.1 Hydrocephalus
3.1.2 Megalencephaly
3.1.3 Other Considerations
3.2 Microcephaly
4 Differential Diagnosis
4.1 Macrocephaly
4.1.1 Hydrocephalus
Acquired Hydrocephalus
Structural
Inflammation
Neoplasms
Vascular
Congenital Hydrocephalus
Congenital Hydrocephalus
Structural
Genetic
In Utero Insults
4.1.2 Megalencephaly
Anatomic Megalencephaly
Neurocutaneous Disorders
Metabolic Causes for Megalencephaly
4.1.3 Other Considerations
4.2 Microcephaly
4.2.1 Genetic Syndromes
4.2.2 Perinatal/Postnatal Causes
Infectious
Vascular
Toxic-Metabolic
Anatomic
5 Diagnostic Approach
5.1 History
5.2 Physical Examination
5.2.1 General Examination
5.2.2 Neurological Examination
5.3 Evaluation (Laboratory Testing/Imaging)
6 Treatment/Management
7 Prognosis/Outcomes
8 When to Refer/Admit
9 Prevention
10 Clinical Pearls and Key Points
References
Child with Ataxia
1 Introduction and Definition
2 Etiology/Epidemiology
3 Diagnostic Approach
3.1 History
3.2 General Physical Examination
3.3 Neurological Examination:
4 Etiology and Differential Diagnosis of Acute, Subacute, and Recurrent Ataxia
4.1 Postinfectious Cerebellar Ataxia and Cerebellitis
4.2 Opsoclonus Myoclonus Syndrome (OMS)
4.3 Chronic Ataxias
5 Approach to the Evaluation
6 Management and Outcomes
7 Conclusions
8 Clinical Pearls/Key Points
References
Child with Gait Disturbances
1 Introduction
1.1 Epidemiology
1.2 Analysis of Normal Gait
2 Diagnostic Approach
2.1 History
2.2 Physical Examination
2.3 Neurological Examination
3 Specific Patterns of Gait Abnormalities\Differential Diagnosis
4 Evaluations
5 When to Refer/Admit
6 Treatment
7 Prognosis
8 Clinical Pearls/Key Points
References
Child with Dizziness
1 Introduction
2 Etiology
3 Epidemiology
4 Anatomy of the Vestibular System
5 Differential Diagnosis
5.1 Migraine Variants
5.1.1 Vestibular Migraine (VM)
5.1.2 Benign Paroxysmal Vertigo of Childhood (BPVC)
5.1.3 Benign Paroxysmal Torticollis of Childhood and Infancy (BPTI)
5.2 Dysautonomia/Orthostatic Dizziness
5.3 Neurological
5.3.1 Traumatic Brain Injury (TBI)/Concussion
5.3.2 Episodic Ataxia
5.3.3 Posterior Fossa Anomalies
5.4 Otological
5.4.1 Middle-Ear Dysfunction
5.4.2 Vestibular Neuritis/Labyrinthitis
5.4.3 Cochleo-Vestibulopathy/Sensorineural Hearing Loss (SNHL)
5.4.4 Benign Paroxysmal Positional Vertigo
5.4.5 Superior Semicircular Canal Dehiscence (SSCD)
6 Inner Ear Trauma
7 Ophthalmological
8 Functional/Psychological
8.1 Persistent Postural-Perceptual Dizziness
8.2 Panic Disorder
9 Diagnostic Approach
10 History
11 Physical Examination
12 Testing
12.1 Audiometry
12.2 Videonystagmography (VNG)
12.3 Rotatory Chair
12.4 Video Head Impulse Test (VHIT)
12.5 Vestibular-Evoked Myogenic Potentials (VEMP)
12.6 Subjective Visual Vertical (SVV)
12.7 Computerized Dynamic Posturography
13 Treatment/Management
13.1 Vestibular Rehabilitation (VR)
13.2 Medication
13.3 Surgery
13.4 Cognitive Behavioral Therapy (CBT)/Biofeedback
13.5 Alternative Therapies
14 Prognosis/Outcomes
14.1 Recovery with Age
14.2 Recovery with Compensation/Rehabilitation
14.3 Recovery with Treatment
14.4 Chronic Conditions
15 When to Refer/Admit
16 Prevention
17 Clinical Pearls/Key Points
References
Cerebral Palsy
1 Introduction
1.1 Classification
1.2 Comorbid Conditions
2 Epidemiology and Economic Impact
3 Etiology
4 Differential Diagnosis
5 Diagnostic Approach
6 History
6.1 The Young Child with a Motor Problem
6.1.1 Pregnancy and Birth
6.1.2 Developmental History
6.1.3 Characteristics of the Motor Abnormalities
6.1.4 Other Historical Clues
6.1.5 Family History
7 Physical Examination
7.1 General Examination
7.2 Neuromotor Examination
7.2.1 Unilateral CP
7.2.2 Bilateral CP
8 Diagnostics
9 Treatment/Management
9.1 Motor Development and Function
9.2 Orthopedic Complications and Management
9.3 Tone and Movement Abnormalities
9.3.1 Experimental/Alternative Therapies
9.4 Treatment of Associated Problems
9.4.1 Communication
9.4.2 Vision
9.4.3 Feeding and Nutrition
9.4.4 Other Gastroenterological Complications
9.4.5 Sialorrhea
9.4.6 Pain
9.4.7 Sleep
9.4.8 Mood
9.4.9 Transition
9.5 Prognosis/Outcomes
9.5.1 Walking
9.5.2 Mortality
9.6 When to Refer/Admit
9.6.1 The Young Child with a Motor Concern
9.6.2 The Child with Cerebral Palsy of Unknown Etiology
9.6.3 Referrals for Management of Symptoms
9.7 Prevention
10 Clinical Pearls/Key Points
References
Child with Closed Head Injury
1 Introduction
2 Epidemiology
3 Diagnostic Approach
3.1 A Symptom-Based Approach to Clinical History
3.2 A Symptom-Based Approach to Physical Examination
3.2.1 General Physical Examination
3.2.2 Neurological Examination
3.2.3 Evaluation (Laboratory Investigations/Imaging)
3.3 A Symptom-Based Approach to Concussion Management
4 Symptoms Throughout the Acute Symptomatic and Recovery Phases
5 Symptom-Based Anticipatory Guidance
6 Potential Long-Term Symptoms of Repetitive Mild Brain Trauma
7 Clinical Pearls/Key Points
References
Child with Neurocutaneous Syndrome
1 Neurocutaneous Disorders
1.1 Introduction
1.1.1 Activation of the Mechanistic Target of Rapamycin (mTOR) Pathway
2 Neurofibromatosis Type 1 (NF-1)
2.1 Introduction and Epidemiology
2.2 Etiology and Pathogenesis
2.3 Differential Diagnosis
2.4 Diagnostic Approach
2.4.1 History
2.4.2 Physical Examination
General Examination
Neurological Examination
2.4.3 Evaluations
2.4.4 Brain
2.4.5 Skeletal Changes in the Skull and Vertebral Bodies
2.4.6 Spinal Cord
2.5 Treatment/Management
2.5.1 Brain
2.5.2 Eyes
2.5.3 Cardiovascular
2.5.4 Skeletal/Orthopedic
2.5.5 Prognosis
2.5.6 When to Refer
3 Neurofibromatosis Type 2 (NF-2)
3.1 Introduction and Epidemiology
3.2 Etiology and Pathogenesis
3.2.1 Differential Diagnosis
3.2.2 Diagnostic Approach
History
Physical Examination
Evaluations
4 Treatment/Management
4.1 Vestibular Tumors
4.2 Meningiomas
4.3 Ependymomas
4.4 Cataracts and Eyes
4.5 Hearing Loss
4.6 Genetic Counseling
4.7 Prognosis/Outcome
4.8 When to Refer
5 Tuberous Sclerosis Complex (TSC)
5.1 Introduction
5.2 Epidemiology
5.3 Etiology and Pathogenesis
5.4 Differential Diagnosis
5.5 Diagnostic Approach
5.5.1 History
5.5.2 Physical Examination
5.5.3 Evaluations
5.5.4 Brain
5.5.5 Kidneys
5.5.6 Heart
5.5.7 Lungs
5.5.8 Treatment/Management
5.5.9 Prognosis
5.5.10 When to Refer
6 Sturge–Weber Syndrome (SWS)
6.1 Introduction and Epidemiology
6.2 Etiology and Pathogenesis
6.3 Differential Diagnosis
6.3.1 Diagnostic Approach
History
Physical Examination
6.3.2 Evaluations
6.4 Treatment/Management
6.5 Prognosis
7 Hereditary Hemorrhagic Telangiectasia (HHT)(Osler–Rendu–Weber Syndrome)
7.1 Definition and Epidemiology
7.2 Etiology and Pathophysiology
7.2.1 Differential Diagnosis
7.2.2 Diagnostic Approach
History
7.2.3 Physical Examination
General Examination
Neurological Examination
Evaluations
7.3 Treatment/Management
7.3.1 Telangiectasias
7.4 Prognosis
7.4.1 When to Refer
8 Incontinentia Pigmenti (IP)
8.1 Definition and Epidemiology.
8.2 Etiology and Pathogenesis
8.2.1 Differential Diagnosis
8.2.2 Diagnostic Approach
History
8.2.3 Physical Examination
Evaluations
8.2.4 Treatment/Management
8.3 Prognosis
8.3.1 When to Refer
9 Hypomelanosis of ITO
9.1 Introduction and Epidemiology
9.2 Etiology and Pathogenesis
9.3 Differential Diagnosis
9.4 Diagnostic Approach
9.4.1 History
9.4.2 Physical Examination
9.4.3 Evaluations
9.5 Treatment/Management
9.6 Prognosis
9.7 When to Refer
10 When To Refer
11 Prevention
12 Clinical Pearls/Key Points
References
Child with Suspected Autoimmune Encephalitis
1 Introduction
2 Epidemiology
3 History and Physical Examination
4 Evaluation and Diagnosis
5 Treatment
5.1 Acute Treatment of Autoimmune Encephalitides
5.2 Chronic Treatment of Autoimmune Encephalitides
6 Neurological Outcomes and Risk of Relapse
7 When to Refer to Pediatric Neurology
8 Conclusions
9 Clinical Pearls and Key Points
References
Child with Suspected Metabolic Disorder
1 Introduction
2 Amino Acid Metabolism Disorders
3 Organic Acidemias (OAs)
4 Urea Cycle Disorders
5 Fatty Acid Oxidation Disorders
6 Mitochondrial Disorders
7 Lysosomal Storage Disorders
8 Peroxisomal Disorders
9 Glycogen Storage Disorders
10 Other IEMs
11 Clinical Pearls and Key Points
References
Further Readings
Myasthenia Gravis
1 Introduction
2 Epidemiology
3 Etiology
4 Differential Diagnosis
5 Diagnostic Approach
5.1 History
5.2 Physical Examination
5.2.1 General Examination
5.2.2 Neurological Examination
5.3 Evaluation
6 Treatment/Management
7 Prognosis
8 Prevention
9 When to Refer/Admit
10 Clinical Pearls/Key Points
References
Approach to an Infant with Hypotonia
1 Introduction
1.1 Epidemiology
1.2 Developmental Chronology
1.3 Anatomical Localization (Fig. 1)
2 The Anatomical Basis of Muscle Tone and its Regulation
2.1 The Motor Neuroaxis
2.2 Upper Motor Determinants of Muscle Tone
2.3 Lower Motor Determinants of Muscle Tone
3 Diagnostic Evaluations
3.1 Prenatal History
3.2 Perinatal History
3.3 Neonatal and Early Postnatal History
3.4 Family and Social History
3.5 Chronology
4 Physical Examination
4.1 General Examination
4.2 Neurological Examination of Muscle Tone
4.3 Neurological Examination of Strength
4.4 Associated Physical and Neurological Observations
5 Laboratory Screening
5.1 Beyond Newborn Screening
5.2 Genetic Testing
5.3 Chromosomal Microarray
5.4 Gene “Panel” Testing
5.5 Exome and Genome Sequencing
6 Hypotonia Disorders with Established or Emerging Treatments
6.1 Diagnostic Urgency
6.2 Spinal Muscular Atrophy
6.3 Glycogen Storage Disease Type 2 (Pompe Disease)
6.4 Congenital Myopathies and Infancy-Onset Myotonic Dystrophy
6.5 Disorders of the Neuromuscular Junction
7 When to Refer or Admit?
8 Clinical Pearls/Key Points
9 Conclusions
References
Child with Acute Limb Weakness
1 Introduction
2 Etiology/Localization
3 Diagnostic Approach
3.1 History
3.2 Physical Examination
3.2.1 General Examination
3.2.2 Neurological Examination
3.3 Laboratory Evaluation/Imaging
4 Conclusion
5 Clinical Pearls and Key Points
References
Functional Neurological Disorder in Children and Adolescents
1 Types of Functional Neurological Symptoms Seen in Children and Adolescents
2 Epidemiology
3 Etiology
4 The Medical Assessment: The First Step in the Assessment and Treatment Process
4.1 History
4.2 Neurological Examination
4.3 Providing a Positive Diagnosis
4.4 Medical Investigations
4.5 Differential Diagnosis
5 The Biopsychosocial Assessment: The Second Step in the Assessment and Treatment Process
5.1 The Biopsychosocial Assessment
5.2 Explaining the FND Diagnosis from the Biopsychosocial Perspective
6 The Treatment Intervention: The Third Step in the Assessment and Treatment Process
6.1 Using the Biopsychosocial Formulation to Plan the Treatment Intervention
6.2 Implementing the Treatment Intervention(s)
7 Prevention and Preemption
7.1 Taking the Intervention Home
7.2 Preventing Chronicity
7.3 Other Preventive Interventions
8 The Vignette of Mona: Applying FND-Informed Care in Clinical Practice
9 Clinical Pearls/Key Points
References
Neurodiagnostic Studies in Children
1 Introduction
2 Analysis of CSF
2.1 Indications for CSF Analysis
2.2 Contraindications to CSF Sampling
2.3 Procedure
2.4 CSF Analysis
2.4.1 Abnormal CSF (Table 1)
Acute Bacterial Meningitis
Chronic Bacterial Meningitis
Encephalitis
Acute Viral Encephalitis
Immunological Disorders
Neurometabolic Disorders
3 Antibody Tests
3.1 Antibody Tests for Autoimmune Encephalitis (AIE)
3.2 Antibody Tests in Myasthenia Gravis
3.3 Antibody Tests in Autoimmune Demyelinating Diseases
4 Neuroimaging
4.1 Cranial Ultrasound
4.2 Computed Tomography (CT)
4.3 Magnetic Resonance Imaging (MRI)
4.4 Magnetic Resonance Spectroscopy (MRS)
4.5 Diffusion Tensor Imaging (DTI)
4.6 Perfusion-Weighted Imaging (PWI)
4.7 Susceptibility-Weighted Imaging (SWI)
4.8 Functional Magnetic Resonance Imaging (fMRI)
4.9 Magnetoencephalography (MEG)
4.10 Positron Emission Tomography (PET)
4.11 Single-Photon Emission Computed Tomography (SPECT)
4.12 Angiography
5 Neurophysiologic Studies
5.1 Electro-encephalogram (EEG)
5.1.1 Abnormal EEG (Table 3)
5.1.2 Generalized Epileptiform Discharges
5.1.3 Focal Epileptiform Pattern
5.1.4 Non-Epileptic Conditions with EEG Abnormalities
5.2 Evoked Potentials
5.3 Nerve Conduction Study and Electro-myography (NCS/EMG)
6 Conclusions
7 Clinical Pearls/Key Points
References
Index