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FASD Diagnosis — RACP Paediatrics MCQ

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ModerateGenetics & MetabolicFASD DiagnosisRACP Paediatrics

A 4-year-old has features suggestive of foetal alcohol spectrum disorder (FASD): growth restriction, microcephaly, smooth philtrum, thin upper lip, and short palpebral fissures. His behaviour includes impulsivity and poor attention. What is the key diagnostic criterion?

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Correct answer: E — Confirmed maternal alcohol exposure

FASD diagnosis requires confirmed prenatal alcohol exposure (or high probability) plus clinical features: growth deficiency, characteristic facial features (smooth philtrum, thin upper lip, short palpebral fissures), CNS involvement (structural brain anomalies, microcephaly, neurodevelopmental impairment). The Australian Guide to FASD (2016) provides the diagnostic framework.

Reference: RACP – 2024 – Paediatric Curriculum: FASD