skip to main content

Angelman syndrome — RACP Paediatrics MCQ

Instant feedback + full explanation. One question, done properly.

ModerateGeneticsAngelman syndromeRACP Paediatrics

A 2-year-old has a happy, excitable demeanour with frequent laughter, severe intellectual disability, seizures, ataxic gait ('puppet-like' movements), and absent speech. EEG shows characteristic high-amplitude slow waves with spikes. What is the most likely diagnosis?

Educational content. Not a substitute for clinical judgement or local policy.

Reveal the answer and explanation

Correct answer: B — Angelman syndrome

The happy demeanour with unprovoked laughter, severe intellectual disability, absent speech, ataxic gait, seizures, and characteristic EEG pattern is Angelman syndrome (UBE3A gene dysfunction at 15q11.2, maternal deletion/UPD/imprinting/mutation). It shares the same chromosomal region as Prader-Willi syndrome but involves the maternal (not paternal) allele.

Reference: RACP Paediatric Curriculum – Genetics; RCH Melbourne – 2023