ABPN Child Neurology key terms

Age-specific skills in gross motor, fine motor, language, and social domains that most children achieve by a given age. Clinicians compare a child's progress against these ranges to detect delay, using validated screening tools and adjusted age for prematurity.

Findings that warrant prompt evaluation: loss of previously acquired skills, no social smile by two months, inability to sit unsupported by nine months, no words by sixteen months, persistent hand preference before eighteen months, or abnormal tone and reflexes.

Brainstem-mediated movements present in early infancy, such as Moro, grasp, and asymmetric tonic neck responses, that normally fade over the first months of life. Their persistence beyond expected ages or asymmetry suggests central nervous system dysfunction.

A congenital hindbrain anomaly, almost always with myelomeningocele, in which the cerebellar vermis and medulla descend through the foramen magnum, causing hydrocephalus, brainstem compression, apnea, and stridor in neonates.

Failure of the embryonic forebrain to divide into two hemispheres, ranging from alobar through semilobar to lobar forms. Features include midline facial defects, seizures, endocrine deficits, and developmental disability; causes include chromosomal and SHH-pathway mutations.

A malformation of cortical development in which neuronal migration fails, producing a smooth, thickened cortex with few or no gyri. Children have severe developmental disability, epilepsy, and hypotonia; classic causes include LIS1 and DCX gene mutations.

An autosomal dominant disorder from TSC1 or TSC2 mutations causing hamartomas in multiple organs. Neurologically it produces cortical tubers, subependymal nodules, infantile spasms, and drug-resistant epilepsy; mTOR inhibitors can shrink associated tumors.

An autosomal dominant RASopathy from NF1 loss of function, diagnosed by cafe-au-lait macules, axillary freckling, neurofibromas, Lisch nodules, optic pathway glioma, and bony dysplasia. Children need surveillance for tumors, hypertension, and learning problems.

Brain injury in the term newborn from impaired placental gas exchange around birth, producing encephalopathy, seizures, and multiorgan injury. Staging by clinical exam and amplitude-integrated EEG guides cooling therapy and prognosis.

Whole-body or selective head cooling to about 33.5 degrees Celsius for 72 hours, started within six hours of birth, for term infants with moderate to severe hypoxic-ischemic encephalopathy. It reduces death and disability but requires monitoring for bradycardia and coagulopathy.

Paroxysmal events in the first month, most often subtle or electrographic only because newborns rarely have organized convulsions. Common causes are hypoxic-ischemic injury, stroke, infection, and metabolic disease; continuous EEG is required for diagnosis and treatment monitoring.

Bleeding into the germinal matrix and ventricles, mostly in premature infants under 32 weeks, graded one to four by extent and ventricular enlargement. Severe grades cause posthemorrhagic hydrocephalus, cerebral palsy, and developmental impairment; prevention targets perinatal stability.

An age-specific epileptic encephalopathy beginning in infancy with clusters of brief flexor or extensor spasms, developmental regression, and an EEG showing hypsarrhythmia. Prompt treatment with adrenocorticotropic hormone, steroids, or vigabatrin improves outcomes.

A childhood epileptic encephalopathy defined by multiple seizure types, intellectual disability, and a slow spike-and-wave EEG pattern. Seizures are usually drug-resistant; valproate, clobazam, lamotrigine, rufinamide, and dietary therapy are used, with corpus callosotomy for drop attacks.

An idiopathic generalized epilepsy beginning around ages four to ten with frequent brief staring spells and three-hertz spike-and-wave discharges on EEG. Seizures are provoked by hyperventilation; ethosuximide is first-line because it controls seizures without worsening cognition.

A common childhood focal epilepsy, formerly called benign rolandic epilepsy, with nocturnal facial and arm twitching, drooling, and speech arrest. The EEG shows centrotemporal spikes activated by sleep; seizures usually remit by adolescence.

Continuous seizure activity, or repeated seizures without recovery, lasting five minutes or longer. Treatment follows a stepped protocol of benzodiazepines, then second-line antiseizure drugs, then anesthetic infusions, while evaluating for hypoglycemia, infection, and structural causes.

An X-linked dystrophinopathy causing progressive proximal weakness in boys, with calf pseudohypertrophy, Gowers sign, elevated creatine kinase, and cardiomyopathy. Corticosteroids slow decline; exon-skipping therapies apply to selected mutations, and respiratory and cardiac care extend survival.

An autosomal recessive lower motor neuron disease from SMN1 deletion, causing progressive hypotonia and weakness. Phenotypes range from severe infantile to mild later onset; SMN2 copy number modifies severity, and gene replacement or splicing therapies are now available.

An acute immune-mediated polyradiculoneuropathy presenting with ascending symmetric weakness, areflexia, and often pain, following infection. Diagnosis uses cerebrospinal fluid albuminocytologic dissociation and nerve conduction studies; treatment is intravenous immunoglobulin or plasma exchange.

An autoimmune disorder of the neuromuscular junction causing fatigable ptosis, diplopia, bulbar weakness, and proximal weakness in children. Antibodies against acetylcholine receptors or MuSK may be present; treatment includes pyridostigmine, steroids, and thymectomy in selected cases.

Focal brain infarction from arterial occlusion, often presenting with hemiparesis and seizures. Causes include arteriopathy, cardiac disease, sickle cell anemia, and prothrombotic states; urgent imaging and antithrombotic therapy reduce recurrence and disability.

Progressive stenosis of the distal internal carotid arteries with compensatory collateral vessels giving a puff-of-smoke appearance on angiography. Children present with recurrent transient ischemic attacks, stroke, or headache; revascularization surgery reduces stroke risk.

Occlusion of the dural venous sinuses or cerebral veins, often associated with dehydration, infection, or prothrombotic disorders. It causes headache, seizures, and hemorrhagic infarction; anticoagulation is generally used even when hemorrhage is present.

An embryonal tumor of the cerebellum and the most common malignant pediatric brain tumor, presenting with headache, vomiting, and ataxia. Treatment combines surgery, craniospinal radiation, and chemotherapy; molecular subgroup influences prognosis and surveillance planning.

An infiltrative high-grade glioma centered in the brainstem, thalamus, or spinal cord, formerly called diffuse intrinsic pontine glioma when pontine. It causes progressive cranial nerve palsies and ataxia; H3 K27M mutation defines the entity and prognosis remains poor.

A monophasic immune-mediated demyelinating disorder after infection or vaccination, with encephalopathy and multifocal white matter lesions on MRI. Treatment is high-dose intravenous steroids; relapse or new lesions should prompt reconsideration of multiple sclerosis or MOGAD.

An autoimmune encephalitis, often with ovarian teratoma, causing psychiatric symptoms, memory loss, seizures, dyskinesias, and autonomic instability. Cerebrospinal fluid shows antibodies against the NMDA receptor; treatment is immunotherapy plus tumor removal.

Purulent infection of the meninges, most often pneumococcus or meningococcus in children, presenting with fever, headache, neck stiffness, and altered mental status. Empiric antibiotics plus dexamethasone should begin immediately after cultures, without delaying for imaging.

An autosomal recessive deficiency of phenylalanine hydroxylase causing phenylalanine accumulation and neurotoxicity. Untreated it produces intellectual disability, microcephaly, and seizures; newborn screening and lifelong dietary restriction prevent damage.

A mitochondrial disorder with bilateral symmetric basal ganglia and brainstem lesions, causing developmental regression, hypotonia, ataxia, and lactic acidosis in infancy or childhood. It results from mutations in mitochondrial or nuclear genes affecting oxidative phosphorylation.

A group of inherited disorders affecting myelin formation or maintenance, producing progressive spasticity, ataxia, vision and hearing loss, and regression. Brain MRI pattern recognition directs genetic testing; some forms have enzyme replacement or transplant options.

A neurodevelopmental disorder with persistent inattention and/or hyperactivity-impulsivity that impairs functioning in more than one setting before age twelve. Diagnosis uses rating scales and history; stimulants and behavioral therapy are first-line treatments.

A neurodevelopmental condition defined by impaired social communication and restricted, repetitive behaviors or interests, present in early childhood. Evaluation includes developmental assessment, hearing testing, and genetic workup; early behavioral intervention improves outcomes.

A childhood-onset tic disorder with multiple motor tics and at least one vocal tic persisting more than a year, often with ADHD or obsessive-compulsive disorder. Education and behavioral therapy are first-line; medications are reserved for tics causing distress or injury.

A recurrent headache preceded by reversible focal neurologic symptoms, most often visual, developing over minutes and lasting less than an hour. Pediatric treatment includes abortive NSAIDs or triptans and preventive therapy when attacks are frequent.

A mild traumatic brain injury with transient confusion, headache, or imbalance after a blow, without structural lesion on imaging. Management is brief cognitive and physical rest followed by graded return to school and sport, avoiding strict prolonged isolation.

Elevated cerebrospinal fluid pressure without a mass lesion, causing headache, transient visual obscurations, papilledema, and sometimes sixth nerve palsy. Risk factors include obesity; treatment is weight management, acetazolamide, and serial ophthalmologic monitoring.