GeneticaLens-The Angelman Project - History of the Diagnosis - Dr. Harry Angelman
 
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History of the Diagnosis

Dr. Harry Angelman, an English pediatrician, first described Angelman syndrome in a paper published in 1965. He had observed several children who had similar features: unusual happiness, severe mental delay, no speech, a marionette-like gait, seizure disorder, and similar facial appearances. Dr. Angelman initially called this disorder "Happy Puppet Syndrome"; its name was eventually changed to Angelman syndrome.

Dr. Angelman writes in personal correspondence, 1991:
"The history of medicine is full of interesting stories about the discovery of illnesses. The saga of Angelman's Syndrome is one such story. It was purely by chance that nearly thirty years ago three handicapped children were admitted at various times to my children's ward in England. They had a variety of disabilities, and although at first sight they seemed to be suffering from different conditions, I felt that there was a common cause for their illness. The diagnosis was purely a clinical one, because in spite of technical investigations, which today are more refined, I was unable to establish scientific proof that the three children all had the same handicap. In view of this I hesitated to write about them in the medical journals. However, when on holiday in Italy I happened to see an oil painting in the Castelvecchio museum in Verona called . . . a Boy with a Puppet. The boy's laughing face and the fact that my patients exhibited jerky movements gave me the idea of writing an article about the three children with a title of Puppet Children. It was not a name that pleased all parents, but it served as a means of combining the three little patients into a single group. Later the name was changed to Angelman syndrome. This article was published in 1965, and after some initial interest lay almost forgotten until the early eighties."

The first reports of AS reached the US in the early 1980's and the University of Florida became one of the first important centers of AS research under the direction of pediatrician Dr. Charles Williams. In 1987, a genetic "marker" for the disorder was discovered--a missing genetic code on a tiny portion of chromosome #15. Ten years later, in 1997, Dr. Joseph Wagstaff, and Dr. Arthur Beaudet discovered that the cause of AS is a mutation in the UBE3A gene (which is missing in the case of a deletion.) To date, there are four different genetic confirmations for AS that can be determind by genetic testing. For more detail, please see our genetics page.


 

Happy Puppet Syndrome
The 17th Century Italian painting by Gian Francesco Caroto (1480-1555) which led Dr. Angelman to name the syndrome "Happy Puppet Syndrome"

Dr. Charles Williams
Dr. Charles Williams, an expert in clincial diagnosis and a Collaborating Investigator for The Angelman Project

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