In 1965, Dr. Harry Angelman, an English physician, first described three children with having characteristics of a disorder now known as the Angelman Syndrome (AS). He noted that all had a stiff, jerky gait, absent speech, excessive laughter and seizures. Other cases were eventually published but the condition was considered to be extremely rare at that time, and many physicians doubted its existence. The first reports from North America appeared in the early 1980s. Dr. Angelman relates the following regarding his discovery of this syndrome:

"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 (e.g., circa 1964) 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 ASF’s mission is to advance the awareness and treatment of Angelman Syndrome through education and information, research, and support for individuals with Angelman Syndrome, their families and other concerned parties.

Since 1996, the ASF has funded 51 research grants totaling over $2.5 million; the majority of these funds ($2.2 million) were awarded beginning in 2005. The organization has also donated around $900,000 and continues to work hard to make a better, more informed life for those suffering with AS. Connecting with ASF provides families with friends and experts who are able to support and empathize in a way that others may not be able to.

You can learn more about AS or how you can help by visiting www.angelman.org