Angelman syndrome

Prevalence and causes

This syndrome, also known as 'happy puppet syndrome', was first described by Angelman in 1965. The syndrome is characterized by severe mental retardation, jerky limb movements associated with abnormal gait, and inappropriate bouts of laughter, features which give the syndrome its name. This is a rare condition which affects between 1 in 20 000 and 1 in 30 000 people. In around 60 to 75 per cent of cases a deletion in the long arm of chromosome 15 (q11q13) could be detected. Whereas in Prader-Willi syndrome this deletion is inherited paternally, in the case of Angelman syndrome it is derived from the maternal source.

Clinical features

Most affected children develop severe or profound mental retardation and lack speech. Typical facial features associated with this syndrome consist of a long face and prominent jaw, a wide mouth with widely spaced teeth, thin upper lip, mid-facial hypoplasia, deep-set blue eyes, blonde hair, flat occiput, and microcephaly. Other characteristic clinical features include ataxic movements, epilepsy (about 86 per cent) and/or an abnormal EEG, inappropriate bouts of laughter, tongue-thrusting movement, hand-flapping, and mouthing behaviour. Upper respiratory tract infection and middle-ear infection are common after infancy and obesity has been reported in female adults.(38)

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