Angelman syndrome.

In 1965, Harry Angelman, a general paediatri- cian from Warrington, Cheshire, England, reported three children with a similar pattern of mental retardation, seizures, ataxia, easily provoked laughter, absent speech, and dys- morphic facial features.'He called them 'pup- pet children'.In subsequent reports by other authors, this name was altered to 'happy pup- pet syndrome'2 and this term continued in popular use for many years.It is, however, considered derogatory by the majority of par- ents and many professionals and the name 'Angelman syndrome' (AS) is now the pre- ferred one.In the first 20 years after its de- scription, Angelman syndrome was reported only rarely.Over the last five years, however, the phenotype has been more widely reported owing to both increasing interest in the cytoge- netic3 and molecular genetic4 abnormalities on chromosome 15 and to the report by Boyd et al5 of the characteristic EEG findings in this condition.This has led to an increase in the number of Angelman patients diagnosed and to diagnosis at a younger age.The incidence of Angelman syndrome is estimated to be around 1 in 20 000.