What neurologic examination and initial work‑up should be performed for a 9‑year‑old child presenting with neuro‑regression?

Neurological Examination and Initial Work-Up for a 9-Year-Old Child with Neuro-Regression

A 9-year-old child presenting with neurological regression requires immediate referral to a pediatric neurologist for baseline evaluation, brain MRI to identify structural abnormalities, and EEG if seizure activity is suspected, as regression of previously acquired skills is a red flag for serious underlying pathology. 1

Critical History Elements

When evaluating neuro-regression, focus your history on these specific questions:

• "Is there anything your child used to be able to do that he or she can no longer do?" This directly identifies regression of skills 1
• Document the timeline and pattern of skill loss (acute vs. gradual) 1
• Ask about seizure activity, including infantile spasms or other seizure types 1
• Inquire about recent viral illness, trauma, or toxic exposures 1
• Assess for behavioral changes, encephalopathy, or altered level of consciousness 1

Focused Neurological Examination

General Observation

• Growth parameters: Measure and plot head circumference, weight, and height on CDC/WHO growth curves to identify microcephaly, macrocephaly, or growth failure 1
• Level of interaction: Assess alertness, responsiveness to environment, and age-appropriate behavior 1, 2
• Observe spontaneous movement quality and quantity during play before formal testing 1

Cranial Nerve Assessment

• CN II (Optic): Visual acuity, visual fields by confrontation, fundoscopic exam for papilledema 2
• CN III, IV, VI: Pupils equal, round, reactive to light and accommodation (PERRLA), extraocular movements intact without nystagmus 2
• CN VII: Facial symmetry during smile and cry, eye closure 1
• CN IX, X: Observe palate and tongue movement, quality of swallow 1
• CN XI: Quality of shoulder shrug 1
• CN XII: Tongue movement and fasciculations 1

Motor Examination

• Muscle tone: Assess for increased or decreased tone in all extremities 1
• Strength: Observe functional movements including ability to rise from floor (Gower maneuver), running, climbing, hopping, and skipping 1
• Muscle bulk: Note any atrophy or asymmetry 1
• Coordination: Finger-to-nose testing, heel-to-shin testing, rapid alternating movements 2

Sensory and Reflex Testing

• Light touch: Test all extremities bilaterally 2
• Deep tendon reflexes: Document symmetry and intensity 1
• Plantar responses: Note if extensor (abnormal at this age) 3

Gait Assessment

• Observe: Base of support, arm swing, coordination, tandem walking 2
• Note: Any ataxia, asymmetry, or difficulty with balance 1

Immediate Diagnostic Work-Up

Neuroimaging (Priority)

Brain MRI is mandatory for any child with regression of skills 1

• MRI is superior to CT for detecting structural brain abnormalities, white matter lesions, and posterior fossa pathology 1
• MRI can identify hydrocephalus, Chiari malformation, cortical malformations, and other structural anomalies 1, 4
• Sedation may be required depending on the child's cooperation 1

Electroencephalography (EEG)

• Obtain EEG if there is any suspicion of seizure activity (clinical or subclinical) 1, 4
• EEG is recommended as standard evaluation for children with neurological regression 4
• Accurate seizure classification guides medical management 1

Laboratory Testing

Order based on clinical presentation:

• Metabolic screening: Consider if regression suggests metabolic disorder 4
• Toxicology screen: If any possibility of drug exposure 4
• Genetic testing: High-resolution chromosome microarray if syndromic features present 1

Common Pitfalls to Avoid

• Do not delay neuroimaging: Regression is never normal and requires urgent investigation 1
• Do not assume behavioral causes: Neurological regression indicates organic pathology until proven otherwise 1
• Do not miss subtle seizures: EEG is essential even without obvious clinical seizures 1, 4
• Do not overlook growth parameters: Changes in head circumference may indicate progressive hydrocephalus or neurodegenerative disease 1

Specialist Referral

Immediate referral to pediatric neurology is non-negotiable for any child with skill regression 1

The neurologist will:

• Coordinate comprehensive diagnostic evaluation 1
• Determine need for additional testing (nerve conduction studies, metabolic workup, genetic testing) 1
• Initiate appropriate treatment if seizures or other treatable conditions identified 1
• Provide prognostic information and coordinate multidisciplinary care 1

Regression of previously acquired neurological skills in a 9-year-old represents a serious warning sign requiring aggressive diagnostic evaluation, as the differential includes progressive neurological disorders, metabolic diseases, structural lesions, and epileptic encephalopathies—all of which have significant implications for morbidity and mortality if not promptly identified and treated 1, 4.