100+ Free ABPN Child Neurology Practice Questions

Pediatric Epilepsy & Seizure Disorders

Neonatal seizures, benign familial neonatal epilepsy (KCNQ2), infantile spasms/West syndrome (hypsarrhythmia — ACTH first-line; vigabatrin first-line for TSC-associated spasms), Dravet (SCN1A — fenfluramine, cannabidiol, stiripentol; AVOID sodium-channel blockers like carbamazepine and lamotrigine), Lennox-Gastaut (slow spike-wave, multiple seizure types — rufinamide, felbamate, cannabidiol), childhood absence epilepsy (ethosuximide first-line per CAEC trial over valproate and lamotrigine), juvenile myoclonic epilepsy (valproate most effective but avoid in girls of childbearing potential — use lamotrigine or levetiracetam), BECTS (usually no treatment required), Landau-Kleffner, ESES, febrile seizures (simple vs complex), status epilepticus (benzodiazepines → levetiracetam/fosphenytoin/valproate), genetic channelopathies (SCN1A, SCN2A, SCN8A, STXBP1, KCNQ2, CDKL5, PCDH19).

Neonatal Neurology & Congenital Malformations

Hypoxic-ischemic encephalopathy (therapeutic hypothermia at 33.5°C for 72 hours initiated within 6 hours of life for moderate-to-severe Sarnat stage II-III), intraventricular hemorrhage grades I-IV, periventricular leukomalacia, perinatal arterial ischemic stroke (left MCA most common), cortical malformations (lissencephaly, pachygyria, polymicrogyria, hemimegalencephaly, focal cortical dysplasia, schizencephaly, holoprosencephaly), Dandy-Walker, Chiari I/II, neural tube defects (folate 400 µg preconception prevents ~70% of NTDs), inborn errors of metabolism screening.

Neuromuscular Disease

Spinal muscular atrophy (SMN1 homozygous deletion with SMN2 copy modifier; universal newborn screening; types I-IV — nusinersen intrathecal ASO, onasemnogene abeparvovec one-time gene therapy in patients <2 years, risdiplam oral splice-modifier). Duchenne muscular dystrophy (Xp21 DMD gene out-of-frame deletions; Gower sign, calf pseudohypertrophy, CK 10,000-20,000; deflazacort or prednisone standard of care; exon-skipping ASOs — eteplirsen (51), casimersen (45), golodirsen/viltolarsen (53); delandistrogene moxeparvovec gene therapy approved 2023; annual cardiomyopathy surveillance). Becker (in-frame deletions), congenital and childhood-onset myotonic dystrophy (DM1 — DMPK CTG repeat), CMT, GBS/CIDP, congenital and juvenile myasthenia gravis, Pompe disease (GAA — infantile cardiomyopathy vs late-onset; ERT with alglucosidase alfa).

Neurometabolic Disease & Leukodystrophies

MELAS (mtDNA A3243G — stroke-like episodes, lactic acidosis, seizures — ragged red fibers), Leigh syndrome (bilateral symmetric T2 hyperintensity of basal ganglia/brainstem), X-linked adrenoleukodystrophy (ABCD1 — elevated very long-chain fatty acids; Addison disease plus demyelination; HSCT if early Loes score), MLD (ARSA — arylsulfatase A), Krabbe (GALC — globoid cells), Canavan (ASPA — NAA peak on MRS), Alexander (GFAP), vanishing white matter, PKU (newborn screening, phenylalanine restriction), MSUD, organic acidurias, urea-cycle defects (OTC X-linked — hyperammonemia with normal anion gap, low BUN), lysosomal storage (MPS I Hurler/II Hunter/III Sanfilippo; Niemann-Pick A/B/C; Tay-Sachs — cherry red spot, hexosaminidase A; Gaucher; Fabry), peroxisomal (Zellweger).

Neurodevelopmental Disorders

Autism spectrum disorder (DSM-5-TR — social communication and restricted/repetitive behaviors; M-CHAT-R at 18 and 24 months; chromosomal microarray is first-tier genetic test with 10-20% yield; fragile X FMR1 CGG >200; MECP2 in girls with regression — Rett; PTEN if macrocephaly; whole-exome when above negative), intellectual disability etiologic workup, ADHD, specific learning disability, fragile X (FMR1 CGG >200), Prader-Willi (15q11-q13 paternal deletion — hypotonia then hyperphagia), Angelman (15q11-q13 maternal UBE3A — happy puppet, ataxia, epilepsy), Rett (MECP2 — hand stereotypies, acquired microcephaly, hyperventilation, GI dysmotility).

Neurocutaneous Syndromes

Neurofibromatosis type 1 (NF1 gene 17q — neurofibromin tumor suppressor; ≥6 café-au-lait spots, axillary/inguinal freckling, Lisch nodules, optic pathway glioma, plexiform neurofibromas treated with selumetinib MEK inhibitor), NF2 (22q — merlin; bilateral vestibular schwannomas, meningiomas, ependymomas), tuberous sclerosis complex (TSC1/TSC2 — mTOR pathway; cortical tubers, SEGAs managed with everolimus; ash-leaf/shagreen/facial angiofibroma/ungual fibroma; cardiac rhabdomyoma; infantile spasms treated with vigabatrin first-line per TSC guidelines), Sturge-Weber (somatic GNAQ R183Q — port-wine stain V1, leptomeningeal angiomatosis, seizures, glaucoma; tram-track calcifications), ataxia-telangiectasia (ATM — combined immunodeficiency, oculocutaneous telangiectasias, leukemia/lymphoma, radiosensitivity).

Pediatric Neuro-oncology & Autoimmune

Medulloblastoma (WHO 2021 molecular subgroups — WNT best prognosis, SHH variable, Group 3 worst with MYC amplification, Group 4; posterior fossa), pilocytic astrocytoma (KIAA1549-BRAF fusion; cerebellar, often surgically curable; optic pathway glioma — NF1 association), atypical teratoid/rhabdoid tumor (SMARCB1/INI1 loss; infants <3 years), ependymoma (posterior fossa — PFA/PFB; supratentorial ZFTA fusion), craniopharyngioma (bitemporal hemianopsia, diabetes insipidus, growth failure — calcified sellar mass), diffuse midline glioma H3 K27-altered (DIPG — pons, poor prognosis), anti-NMDAR encephalitis (adolescent girls — ovarian teratoma; psychiatric prodrome → movement disorder → autonomic instability), Rasmussen encephalitis (unilateral chronic, epilepsia partialis continua — hemispherectomy), ADEM, pediatric MS, MOG antibody-associated disease.

Pediatric Stroke & Headache

Pediatric arterial ischemic stroke (sickle cell disease — TCD >200 cm/s triggers chronic transfusion per STOP trial; moyamoya — bypass surgery; congenital heart disease; arterial dissection; antiphospholipid syndrome), hemorrhagic stroke (AVM most common cause of spontaneous ICH in kids, cavernoma), perinatal stroke, COL4A1-associated disease, migraine variants/episodic syndromes of childhood (abdominal migraine, cyclic vomiting, benign paroxysmal vertigo, benign paroxysmal torticollis of infancy), acute migraine (ibuprofen; rizatriptan FDA age 6+, almotriptan/zolmitriptan nasal/sumatriptan-naproxen 12+), prevention (topiramate FDA 12+; CGRP mAbs 12+).

Cerebral Palsy

Gross Motor Function Classification System (GMFCS) levels I-V (I = walks without limitations; V = non-ambulatory), topographic (hemiplegia, diplegia, quadriplegia) and physiologic classification (spastic ~80%, dyskinetic — dystonic/athetoid, ataxic, mixed), etiology (antenatal factors 70-80%; intrapartum HIE responsible for <10% of term-born CP cases), associated comorbidities (epilepsy, intellectual disability, cortical visual impairment, hip surveillance per AACPDM schedule by GMFCS, sialorrhea, scoliosis), treatment (enteral baclofen, botulinum toxin, intrathecal baclofen pump, selective dorsal rhizotomy in select GMFCS II-III patients).

Movement Disorders

Tourette syndrome (motor + vocal tics with premonitory urge; Comprehensive Behavioral Intervention for Tics (CBIT) is first-line; alpha-2 agonists clonidine/guanfacine first pharmacologic; aripiprazole FDA-approved; haloperidol and pimozide carry tardive dyskinesia risk), dystonia (primary — DYT1/TOR1A — vs secondary; DRD — responsive to low-dose levodopa), chorea (Sydenham post-streptococcal — major Jones criterion; juvenile Huntington), myoclonus, acute cerebellar ataxia (post-infectious, especially varicella), opsoclonus-myoclonus-ataxia syndrome (screen for neuroblastoma — urine VMA/HVA, MIBG), Friedreich ataxia (FXN GAA repeat; hypertrophic cardiomyopathy, diabetes, scoliosis; omaveloxolone FDA-approved 2023).

Sleep, Infection, Ethics & Core Neuroscience

Pediatric sleep (NREM parasomnias — night terrors, sleepwalking; narcolepsy type 1 with cataplexy — hypocretin deficiency; behavioral insomnia; obstructive sleep apnea — adenotonsillectomy first-line), CNS infections (bacterial meningitis empiric ceftriaxone plus vancomycin; dexamethasone before first antibiotic dose for suspected Hib; neonatal GBS and E. coli — ampicillin + cefotaxime/gentamicin; neonatal HSV — acyclovir 60 mg/kg/day IV for 14-21 days depending on disease extent; CSF PCR), viral encephalitis (HSV-1 temporal lobe), cerebral malaria, informed consent and assent in pediatric research, transition to adult neurology, biostatistics.