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Angelman Syndrome — RACP Paediatrics MCQ

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HardNeurology & DevelopmentAngelman SyndromeRACP Paediatrics

An 18-month-old child is not yet walking, has no words, does not point, and does not follow simple commands. He was born at term with no perinatal complications. On examination, he has truncal hypotonia, a happy disposition with frequent unprovoked laughter, and hand-flapping. Genetic testing shows a deletion of 15q11-q13 on the maternally inherited chromosome. What is the diagnosis?

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Correct answer: C — Angelman syndrome

Angelman syndrome is caused by loss of function of UBE3A on the maternally inherited chromosome 15q11-q13. Features include severe intellectual disability, absent speech, ataxia, frequent laughter/happy demeanour, microcephaly, and seizures. Prader-Willi syndrome involves loss of the paternally inherited 15q11-q13 region and presents with hypotonia, feeding difficulties, and later obesity.

Reference: RACP – 2024 – Paediatric Curriculum: Clinical Genetics