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ABPN Child Neurology study materials
ABPN Child Neurology study resources

ABPN Child Neurology practice questions

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Question 1Normal Development and Growth

At what age do most infants typically sit without support?

  1. 14-16 months
  2. 10-12 months
  3. 2-3 months
  4. 6-8 months Correct answer.

Explanation

Independent sitting without support is typically achieved between 6 and 8 months, with most infants sitting steadily by about 8 months. Persistent inability to sit by 9 months warrants developmental assessment.

Question 2Normal Development and Growth

At what age do most children say their first meaningful word?

  1. 18 months
  2. 24 months
  3. 6 months
  4. 12 months Correct answer.

Explanation

First meaningful words usually emerge between 10 and 15 months, with 12 months serving as a typical average. By 18 months most toddlers have several single words, and by 24 months many combine two words.

Question 3Normal Development and Growth

A responsive social smile usually first appears at which age?

  1. 4 months
  2. 3 months
  3. At birth
  4. 6-8 weeks Correct answer.

Explanation

A true social smile, in response to a face or voice, typically emerges at 6-8 weeks. Smiling at birth is reflexive rather than social.

Question 4Normal Development and Growth

Birth weight typically doubles by which age?

  1. 12 months
  2. 2 months
  3. 8-9 months
  4. 4-5 months Correct answer.

Explanation

Most infants double their birth weight by 4-5 months and triple it by about 12 months. These are useful markers of adequate growth in infancy.

Question 5Normal Development and Growth

Hand preference is usually firmly established by which age?

  1. 6 months
  2. 2-3 years Correct answer.
  3. 8-10 years
  4. 5-6 years

Explanation

Hand preference emerges in the second year and is usually established by 2-3 years. Consistent handedness before 18 months, or lack of a preference by school age, may warrant evaluation.

Question 6Normal Development and Growth

Stranger anxiety most commonly emerges and peaks during which period?

  1. 18-24 months
  2. 3-4 years
  3. 6-9 months Correct answer.
  4. 2-3 months

Explanation

Stranger anxiety typically emerges around 6-9 months as infants develop recognition memory and differentiation of familiar from unfamiliar people. It usually declines during the second year.

Question 7Normal Development and Growth

Head circumference increases by approximately how much during the first year?

  1. 8 cm
  2. 20 cm
  3. 4 cm
  4. 12 cm Correct answer.

Explanation

Head circumference increases about 12 cm in the first year, from roughly 35 cm at birth to about 47 cm at 12 months. Growth is fastest in the first 6 months and then slows.

Question 8Normal Development and Growth

The Moro reflex typically disappears by which age?

  1. 3-4 months Correct answer.
  2. 1 month
  3. 6-8 months
  4. 12 months

Explanation

The Moro reflex is present at birth and normally resolves by 3-4 months. Persistence beyond 4-6 months suggests a neurologic abnormality.

Question 9Normal Development and Growth

A mature pincer grasp, using the thumb and index finger, usually develops at which age?

  1. 24 months
  2. 4-5 months
  3. 15-18 months
  4. 9-12 months Correct answer.

Explanation

A pincer grasp typically emerges between 9 and 12 months, replacing the earlier raking grasp. At 4-5 months infants reach and rake but do not isolate the thumb and index finger.

Question 10Normal Development and Growth

A mature day-night sleep pattern is usually established by which age?

  1. 9-12 months
  2. At birth
  3. 3-6 months Correct answer.
  4. 18 months

Explanation

Newborn sleep is fragmented, but circadian rhythm and longer nighttime sleep consolidate by 3-6 months. Most infants sleep through the night by about 6 months, though individual variation is common.

Question 11Normal Development and Growth

In girls, the first physical sign of central puberty is usually which of the following?

  1. Axillary hair growth
  2. Peak height velocity
  3. Breast budding Correct answer.
  4. Pubic hair growth

Explanation

Breast budding, or thelarche, is typically the first sign of central puberty in girls. Pubic hair may appear later, and the growth spurt follows breast development.

Question 12Normal Development and Growth

Parallel play, in which children play alongside but not truly with each other, is most characteristic of which age?

  1. 6-7 years
  2. 2-3 years Correct answer.
  3. 12-18 months
  4. 4-5 years

Explanation

Parallel play is typical of toddlers around 2-3 years, who imitate and play near peers without shared goals. Cooperative play with shared rules develops later, around 4-5 years.

Question 13Normal Development and Growth

Iron-rich complementary foods are generally recommended to begin at which age?

  1. 12 months
  2. 2 months
  3. 6 months Correct answer.
  4. 9 months

Explanation

Complementary foods, especially iron-rich options, are recommended starting around 6 months while milk feeding continues. Early introduction before 4 months and delayed introduction after 6 months both carry risks.

Question 14Normal Development and Growth

Visual acuity of 20/20 is typically achieved by which age?

  1. 5-6 years Correct answer.
  2. 10 years
  3. 3 months
  4. 1 year

Explanation

Visual acuity matures gradually and usually reaches 20/20 by about 5-6 years. At 1 year acuity is much lower, and at 3 months it is poorer still.

Question 15Normal Development and Growth

Which test is most appropriate for universal newborn hearing screening?

  1. Tympanometry
  2. Automated auditory brainstem response Correct answer.
  3. Whisper test
  4. Behavioral observation

Explanation

Automated auditory brainstem response is an objective physiologic test widely used for newborn hearing screening. It detects cochlear and retrocochlear hearing loss without requiring behavioral response.

Question 16Normal Development and Growth

A 20-month-old raised in a bilingual home says 25 words total across both languages and follows simple commands in each language. Which statement best guides interpretation?

  1. Monolingual norms should never be used.
  2. Total vocabulary across both languages is considered when comparing with norms. Correct answer.
  3. The child should have at least 50 words in each language.
  4. Bilingual exposure commonly causes language delay.

Explanation

Bilingual toddlers may have fewer words in each language than monolingual peers, but their total conceptual vocabulary is usually comparable. When assessing delay, count words across both languages and consider comprehension and gesture.

Question 17Normal Development and Growth

A 9-month-old whose birth length and weight were at the 50th percentile is now at the 5th percentile for both, having crossed two major percentile lines. What is the most appropriate next step?

  1. Repeat measurements in 1 year
  2. Order an immediate brain MRI
  3. Reassure the family because the 5th percentile is within normal limits
  4. Obtain a detailed feeding history, review systems, and plot parental heights Correct answer.

Explanation

Crossing two major percentile lines downward is a red flag for failure to thrive, neglect, chronic illness, or endocrine disease. Evaluation begins with feeding and medical history, parental heights, and serial measurements; imaging is not first-line.

Question 18Normal Development and Growth

A 10-year-old boy has short stature, delayed puberty, a bone age of 7 years, normal growth velocity, and normal screening labs. Which diagnosis is most likely?

  1. Growth hormone deficiency
  2. Precocious puberty
  3. Constitutional delay of growth and puberty Correct answer.
  4. Primary hypothyroidism

Explanation

Constitutional delay of growth and puberty typically shows delayed bone age with preserved growth velocity and a family history of late maturation. Growth hormone deficiency more often causes decreased growth velocity.

Question 19Normal Development and Growth

Most children pass a standard false-belief task at approximately which age?

  1. 4 years Correct answer.
  2. 3 years
  3. 2 years
  4. 7 years

Explanation

Theory of mind, as measured by false-belief tasks, typically emerges around 4-5 years. Younger children tend to be egocentric and attribute their own knowledge to others.

Question 20Normal Development and Growth

In boys, precocious puberty is defined by the onset of pubertal changes before which age?

  1. Voice change before age 12
  2. Testicular enlargement before age 9 Correct answer.
  3. Axillary hair before age 10
  4. Pubic hair before age 8

Explanation

In boys, precocious puberty is defined by pubertal development before age 9, with testicular enlargement usually the first sign. Isolated pubic hair may represent premature adrenarche rather than central puberty.

Question 21Neurogenetics and Congenital Malformations

Which preconception intervention most effectively lowers the risk of a neural tube defect in a subsequent pregnancy?

  1. Vitamin B12 supplementation
  2. Low-dose aspirin therapy
  3. Maternal ketogenic diet
  4. Folic acid supplementation Correct answer.

Explanation

Periconceptional folic acid reduces the risk of neural tube closure defects, including spina bifida and anencephaly, with higher doses used after an affected pregnancy. Supplementation should begin before conception because the neural tube closes by the fourth gestational week.

Question 22Neurogenetics and Congenital Malformations

Which spinal malformation is most commonly associated with a Chiari II malformation?

  1. Holoprosencephaly
  2. Schizencephaly
  3. Myelomeningocele Correct answer.
  4. Dandy-Walker malformation

Explanation

Chiari II consists of downward displacement of the cerebellar vermis and medulla through the foramen magnum and is strongly associated with open neural tube defects, especially myelomeningocele. Hydrocephalus is common and often requires shunting.

Question 23Neurogenetics and Congenital Malformations

Which skin finding is most characteristic of tuberous sclerosis complex in an infant?

  1. Salmon patches
  2. Hypomelanotic macules Correct answer.
  3. Port-wine stain
  4. Multiple café-au-lait macules

Explanation

Ash-leaf hypomelanotic macules are an early major diagnostic feature of tuberous sclerosis complex and are best seen with a Wood lamp. They reflect underlying mTOR pathway dysregulation caused by TSC1 or TSC2 mutations.

Question 24Neurogenetics and Congenital Malformations

Which finding is a diagnostic criterion for neurofibromatosis type 1?

  1. Retinal hamartomas
  2. Axillary freckling Correct answer.
  3. Bilateral vestibular schwannomas
  4. Subependymal giant cell astrocytomas

Explanation

Axillary or inguinal freckling is one of the major diagnostic criteria for NF1. The diagnosis requires two or more criteria, such as café-au-lait macules, neurofibromas, optic glioma, and a first-degree relative with NF1.

Question 25Neurogenetics and Congenital Malformations

A boy has intellectual disability, a long face, large ears, and macroorchidism. Which genetic mechanism most likely explains this presentation?

  1. MECP2 missense mutation
  2. 22q11.2 deletion
  3. CGG repeat expansion Correct answer.
  4. Maternal uniparental disomy 15

Explanation

Fragile X syndrome results from expansion of a CGG trinucleotide repeat in FMR1, leading to silencing of the gene and absent FMRP. The physical features and macroorchidism are characteristic in postpubertal males.

Question 26Neurogenetics and Congenital Malformations

A 4-year-old boy has progressive proximal weakness, calf pseudohypertrophy, and a markedly elevated creatine kinase level. Which inheritance pattern applies to his likely disorder?

  1. Autosomal recessive
  2. Mitochondrial
  3. X-linked recessive Correct answer.
  4. Autosomal dominant

Explanation

Duchenne muscular dystrophy is caused by pathogenic variants in DMD on the X chromosome and follows X-linked recessive inheritance. Boys are affected, while carrier mothers may have mild or no weakness.

Question 27Neurogenetics and Congenital Malformations

An infant has cyclopia and a single midline cerebral ventricle on imaging. Which malformation best explains these findings?

  1. Holoprosencephaly Correct answer.
  2. Dandy-Walker malformation
  3. Lissencephaly
  4. Schizencephaly

Explanation

Alobar holoprosencephaly reflects failure of the embryonic forebrain to cleave into two hemispheres and is often accompanied by midline facial defects. Severe forms can produce cyclopia and a single monoventricle.

Question 28Neurogenetics and Congenital Malformations

A newborn has hypotonia and later develops seizures; MRI shows a smooth brain surface with a thick cortex and reduced gyration. Which developmental process was primarily disturbed?

  1. Activity-dependent synaptic pruning
  2. Cortical vascularization
  3. Neuronal migration Correct answer.
  4. Postnatal myelination

Explanation

Classic lissencephaly results from defective neuronal migration during cortical development, producing a smooth gyral pattern and thickened cortex. Affected infants often have hypotonia, developmental delay, and epilepsy.

Question 29Neurogenetics and Congenital Malformations

A 14-year-old girl with epilepsy has multiple nodules lining the lateral ventricles and otherwise normal cortical gyration on MRI. Which gene is most likely involved?

  1. PAFAH1B1
  2. TSC1
  3. DCX
  4. FLNA Correct answer.

Explanation

Periventricular nodular heterotopia is most often caused by X-linked FLNA variants, which can be lethal in males and cause epilepsy in heterozygous females. The nodules represent neurons that failed to migrate to the cortex.

Question 30Neurogenetics and Congenital Malformations

An MRI shows a large posterior fossa cyst that communicates with the fourth ventricle, along with hypoplasia of the cerebellar vermis and hydrocephalus. Which diagnosis is most likely?

  1. Chiari I malformation with syrinx
  2. Blake pouch cyst with vermian hypoplasia
  3. Dandy-Walker malformation Correct answer.
  4. Joubert syndrome with molar tooth sign

Explanation

Dandy-Walker malformation consists of cystic dilation of the fourth ventricle, cerebellar vermian hypoplasia, and an enlarged posterior fossa, often with hydrocephalus. A Blake pouch cyst can mimic the cystic posterior fossa but lacks true vermian hypoplasia.

Question 31Neurogenetics and Congenital Malformations

Which MRI finding is characteristic of Joubert syndrome?

  1. Molar tooth sign Correct answer.
  2. Subependymal nodules
  3. Cortical tubers
  4. Lissencephaly with thick cortex

Explanation

Joubert syndrome is a ciliopathy characterized by cerebellar vermian hypoplasia and an abnormally deep interpeduncular fossa, producing the molar tooth sign. Affected children may have hypotonia, ataxia, abnormal eye movements, and episodic hyperpnea.

Question 32Neurogenetics and Congenital Malformations

An infant has a facial port-wine birthmark in the ophthalmic trigeminal distribution and focal seizures. MRI shows leptomeningeal enhancement over the affected hemisphere. Which diagnosis is most likely?

  1. Sturge-Weber syndrome Correct answer.
  2. Neurofibromatosis type 1
  3. PHACE syndrome
  4. Tuberous sclerosis complex

Explanation

Sturge-Weber syndrome combines a facial capillary malformation in V1 with ipsilateral leptomeningeal angiomatosis, seizures, and glaucoma risk. The leptomeningeal enhancement and hemiatrophy evolve with age.

Question 33Neurogenetics and Congenital Malformations

A child has neonatal hypotonia, hyperphagia, obesity, and hypogonadism. Which genetic abnormality most commonly causes this disorder?

  1. Paternal uniparental disomy 15
  2. Maternal deletion of 15q11-q13
  3. Paternal deletion of 15q11-q13 Correct answer.
  4. Expansion of a CGG repeat

Explanation

Prader-Willi syndrome results from loss of paternally expressed genes in the 15q11-q13 region, most often through a paternal deletion. Maternal uniparental disomy or an imprinting defect can also cause it, whereas maternal deletion causes Angelman syndrome.

Question 34Neurogenetics and Congenital Malformations

A mother and several of her children have seizures, lactic acidosis, and stroke-like episodes. Which inheritance pattern best fits this family history?

  1. Autosomal dominant
  2. X-linked recessive
  3. Mitochondrial Correct answer.
  4. Autosomal recessive

Explanation

Mitochondrial DNA is inherited maternally, so a mother with a mitochondrial disorder can transmit it to both sons and daughters. MELAS is a classic mitochondrial disease with stroke-like episodes, lactic acidosis, and seizures.

Question 35Neurogenetics and Congenital Malformations

A 3-month-old boy has sparse kinky hair, seizures, and developmental regression. Serum copper and ceruloplasmin are low. Which process is primarily defective?

  1. Intestinal copper transport Correct answer.
  2. Pyruvate dehydrogenase activity
  3. Peroxisomal biogenesis
  4. Lysosomal arylsulfatase A activity

Explanation

Menkes disease is an X-linked disorder of copper transport caused by ATP7A mutations, leading to copper deficiency in the brain and connective tissue. Low ceruloplasmin and kinky hair are characteristic, and treatment with copper is most effective before symptoms appear.

Question 36Neurogenetics and Congenital Malformations

An infant with macrocephaly and hypotonia has markedly elevated urine N-acetylaspartic acid. Which diagnosis is most likely?

  1. Metachromatic leukodystrophy
  2. Canavan disease Correct answer.
  3. Krabbe disease
  4. Alexander disease

Explanation

Canavan disease is an autosomal recessive leukodystrophy caused by aspartoacylase deficiency, leading to accumulation of N-acetylaspartic acid. Infants present with macrocephaly, hypotonia, developmental delay, and seizures.

Question 37Neurogenetics and Congenital Malformations

A 4-month-old girl has infantile spasms, chorioretinal lacunae, and agenesis of the corpus callosum. Which diagnosis is most likely?

  1. Aicardi syndrome Correct answer.
  2. Angelman syndrome
  3. Ohtahara syndrome
  4. Rett syndrome

Explanation

Aicardi syndrome is defined by the triad of agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms, and it occurs almost exclusively in females. It is generally sporadic and considered X-linked dominant with male lethality.

Question 38Neurogenetics and Congenital Malformations

A 2-year-old girl has acquired microcephaly, hand-wringing stereotypies, and loss of spoken language after a period of normal development. Which gene is most strongly associated with this presentation?

  1. FOXG1
  2. MECP2 Correct answer.
  3. UBE3A
  4. CDKL5

Explanation

Classic Rett syndrome is caused by pathogenic MECP2 variants and is characterized by early normal development followed by regression, loss of purposeful hand use, and stereotypies. Acquired microcephaly and hand-wringing are typical.

Question 39Neurogenetics and Congenital Malformations

A 6-month-old has progressive hypotonia, tongue fasciculations, and preserved social interaction. Genetic testing shows homozygous absence of SMN1 exon 7. Which statement best explains the phenotype?

  1. Defective dystrophin causes sarcolemmal fragility
  2. Demyelination of peripheral sensory nerves causes weakness
  3. Loss of SMN protein causes anterior horn cell degeneration Correct answer.
  4. A toxic gain-of-function mutation in SMN1 affects motor neurons

Explanation

Spinal muscular atrophy is caused by biallelic loss of SMN1, leading to reduced SMN protein and degeneration of anterior horn cells. The result is progressive weakness and hypotonia with preserved cognition and sensation.

Question 40Neurogenetics and Congenital Malformations

A neonate has hypotonia, seizures, hepatomegaly, and elevated very-long-chain fatty acids. MRI shows polymicrogyria. Which disorder best explains these findings?

  1. Alexander disease with GFAP accumulation
  2. Zellweger spectrum disorder Correct answer.
  3. Canavan disease with aspartoacylase deficiency
  4. Menkes disease with ATP7A deficiency

Explanation

Zellweger spectrum disorders are peroxisomal biogenesis disorders with impaired very-long-chain fatty acid oxidation, causing hypotonia, seizures, liver dysfunction, and cortical malformations such as polymicrogyria. Elevated very-long-chain fatty acids are a hallmark.

Question 41Neonatal Neurology

A 3-day-old term infant has electrographic seizures. Which medication is recommended as first-line therapy?

  1. Phenobarbital Correct answer.
  2. Phenytoin
  3. Levetiracetam
  4. Midazolam infusion

Explanation

Phenobarbital remains the recommended first-line agent for neonatal seizures, typically given as a 20 mg/kg intravenous load followed by maintenance dosing. If seizures persist, a second loading dose or escalation to levetiracetam, fosphenytoin, or midazolam is used. The choice reflects both efficacy data and long-standing neonatal protocols.

Question 42Neonatal Neurology

A newborn delivered after shoulder dystocia has weakness of the right arm with the arm adducted and internally rotated, elbow extended, and wrist flexed; grasp is preserved. Which nerve roots are most likely injured?

  1. C8–T1
  2. C5–C6 Correct answer.
  3. C7 alone
  4. T1–T2

Explanation

Erb palsy results from injury to the upper trunk (C5–C6), producing the classic waiter's-tip posture with the arm adducted, internally rotated, and the elbow extended. Because the lower trunk fibers to the hand are spared, the grasp reflex remains intact. Most cases resolve spontaneously over weeks to months.

Question 43Neonatal Neurology

Which organism is the most common cause of bacterial meningitis in the first month of life in the United States?

  1. Streptococcus pneumoniae
  2. Neisseria meningitidis
  3. Group B Streptococcus Correct answer.
  4. Listeria monocytogenes

Explanation

Group B Streptococcus and Escherichia coli account for most cases of neonatal bacterial meningitis, with GBS predominant overall. Empiric therapy for a young infant therefore includes ampicillin plus gentamicin or a third-generation cephalosporin.

Question 44Neonatal Neurology

A 28-week preterm infant has recurrent apnea and bradycardia. Which pharmacologic therapy is first-line?

  1. Caffeine citrate Correct answer.
  2. Naloxone
  3. Theophylline infusion
  4. Doxapram

Explanation

Caffeine citrate is the first-line pharmacologic treatment for apnea of prematurity, reducing apnea and the need for mechanical ventilation. It has a wider therapeutic index and fewer side effects than theophylline.

Question 45Neonatal Neurology

Which finding is most characteristic of neonatal opioid withdrawal syndrome?

  1. Tremors, irritability, and loose stools Correct answer.
  2. Seizures with hyperammonemia and vomiting
  3. Jaundice with hepatosplenomegaly
  4. Hypotonia with poor feeding and a weak cry

Explanation

Neonatal opioid withdrawal syndrome classically produces central nervous system hyperirritability (tremors, high-pitched cry, irritability) along with gastrointestinal dysfunction such as loose stools and poor feeding. Autonomic signs like sweating, yawning, and nasal stuffiness are also common. Scoring tools such as the Finnegan scale guide treatment.

Question 46Neonatal Neurology

An infant whose newborn screen shows elevated phenylalanine is started on a phenylalanine-restricted diet with tyrosine supplementation to prevent which complication?

  1. Intellectual disability Correct answer.
  2. Hepatocellular failure
  3. Profound sensorineural hearing loss
  4. Cardiomyopathy

Explanation

Untreated phenylketonuria leads to intellectual disability, and early dietary restriction of phenylalanine with tyrosine supplementation prevents this outcome. Newborn screening allows treatment to begin before symptoms appear.

Question 47Neonatal Neurology

Which infant qualifies for therapeutic hypothermia for hypoxic-ischemic encephalopathy?

  1. 34-week preterm infant with grade I intraventricular hemorrhage
  2. 39-week infant with isolated hypertonia first noted at 2 weeks of age
  3. 37-week infant with apnea first noted at 30 hours of age
  4. Term infant with cord pH 6.9 and moderate encephalopathy at 4 hours Correct answer.

Explanation

Therapeutic hypothermia is offered to infants born at 36 weeks or more with evidence of a perinatal event (for example, cord pH ≤7.0 or base deficit ≥16 mEq/L), moderate to severe encephalopathy, and initiation within 6 hours of birth. Meeting all criteria is necessary because cooling outside this window or in milder cases has not shown benefit.

Question 48Neonatal Neurology

A term newborn at 24 hours is lethargic, hypotonic, has a weak Moro reflex, and has had one clinical seizure. Which Sarnat stage does this represent?

  1. Stage 0 (normal)
  2. Stage I (mild)
  3. Stage III (severe)
  4. Stage II (moderate) Correct answer.

Explanation

Sarnat stage II (moderate encephalopathy) is marked by lethargy, hypotonia, a weak or incomplete Moro reflex, and seizures, often with autonomic instability. Stage I features hyperalertness and sympathetic signs, whereas stage III involves stupor, flaccidity, and absent brainstem reflexes.

Question 49Neonatal Neurology

Cranial ultrasound in a 3-day-old 27-week infant shows blood filling the lateral ventricles and acute dilatation of the ventricles without parenchymal hemorrhage. What Papile grade is this?

  1. Grade II
  2. Grade IV
  3. Grade I
  4. Grade III Correct answer.

Explanation

Papile grade III denotes intraventricular hemorrhage with acute ventricular dilatation. Grade I is confined to the germinal matrix, grade II fills the ventricles without dilatation, and grade IV includes intraparenchymal hemorrhage.

Question 50Neonatal Neurology

Which pattern of injury is most characteristic of periventricular leukomalacia in a preterm infant?

  1. Hemorrhage in the caudate nucleus
  2. Bilateral periventricular echogenicities that evolve into cysts Correct answer.
  3. Cortical necrosis with laminar involvement
  4. Diffuse cortical atrophy with enlargement of the sulci and cisterns

Explanation

Periventricular leukomalacia is an ischemic white-matter injury in premature infants that begins as periventricular echogenicity and evolves into cysts, often with later ventriculomegaly and motor deficits such as spastic diplegia. It typically spares the cortex.