Identification of Angelman syndrome

Angelman syndrome is a rare genetic disorder that affects the nervous system. It was first described in 1965 by the English pediatrician Harry Angelman, who observed three children with similar features, including jerky movements, absent speech and frequent laughter. He called them puppet children, a name that was later dropped as outdated. People with the syndrome typically have severe developmental delay, difficulty walking, seizures and a happy, excitable manner. It is caused by the loss of function of a gene called UBE3A on chromosome 15, inherited from the mother. There is no cure, and treatment focuses on managing symptoms.

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