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Developmental delay — MRCPCH FOP MCQ

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HardNeurology and neurodevelopmentDevelopmental delayMRCPCH FOP

A 20-month-old girl is not walking independently and has few words. Examination shows global hypotonia, height on the 3rd centile, a single palmar crease and an ejection systolic murmur. What is the most appropriate investigation?

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Correct answer: A — Chromosomal microarray with paediatric genetics referral

Global developmental delay with dysmorphic features, short stature and a murmur suggests an underlying chromosomal condition, so genetic testing and specialist referral are appropriate. Reassurance alone would miss associated medical needs. Antiepileptic medication is not indicated without seizures. The pearl is to look for syndromic clues and associated congenital heart disease in developmental assessment.

Reference: RCPCH Progress curriculum; NICE CKS Developmental delay