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http://www.angelmanuk.org/


What is Angelman Syndrome?

Angelman Syndrome is a rare genetic condition first identified in the mid 1960's by a British doctor called 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 that they had a common problem. He was inspired to write an article after seeing a painting in the Castelvecchio museum in Verona , Italy entitled "A Boy with a Puppet" which gave him the idea of writing a paper titled "Puppet Children". The syndrome originally called the '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 to identify the cause.

In simple terms, it is a chromosome disorder that causes severe learning difficulties. Since the condition was first identified in 1965 to date only about 350 people (mostly children and young adults) have been diagnosed in the UK. This number is increasing due to the improvement and ease of Genetic testing.

It is now known that irregularities in Chromosome 15 are responsible for A.S. 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 A.S A.S 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 A.S very quickly, you have will lots of questions on a topic you had never heard of before.






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