Angelman Syndrome is a rare genetic condition first identified in 1965 by a British doctor, Harry Angelman, from whom it also gained its name.
Dr Angelman had noticed similarities between a small number of previously undiagnosed children that seemed to indicate they had a common problem. After seeing a painting in the Castelvecchio museum in Verona, Italy entitled A Boy with a Puppet he was inspired to write a medical paper titled Puppet Children.
The syndrome - originally called 'Happy Puppet Syndrome' because of the characteristic happy demeanour and stiff jerky movements of the children - was renamed Angelman Syndrome in 1982. Although at first little was known and indeed few other cases identified, in recent years much more has been learned. During the 1980's advances in genetic medicine made it possible to diagnose increasing numbers of cases and also to start identifying the cause.
In simple terms, it is a chromosome disorder that causes severe learning difficulties. It is now known that irregularities in Chromosome 15 are responsible for AS. However it is also known that there are several different irregularities that can occur in Chromosome 15, all of which result in a diagnosis of AS.
Angelman Syndrome is not a disease, it is a neurological disorder that causes severe learning difficulties, and although those affected have a normal life expectancy, they will require looking after throughout their lives. It's possible to go from knowing nothing about AS, to being overwhelmed by the information now available to families of those newly diagnosed with AS. It can be very difficult to understand all there is to know about AS very quickly, you'll probably have lots of questions on a topic you may never have heard of before.
Most AS children are diagnosed between the ages of 3 & 7 when the characteristic physical and behavioural features become evident.
The characteristics used for diagnostic criteria are listed below: