Angelman Syndrome (AS) is a rare neurological disorder affecting around 1:20,000 births. Characteristic features include delayed development, severe learning difficulties, little or no speech and issues with movement and balance. Although those affected have a normal life expectancy, they will require support throughout their lives.

As it is rare, most people will never have heard of AS before. It can be very difficult to understand all there is to know about AS very quickly and you’ll probably have lots of questions.

In simple terms, AS is caused by one of several different types of disruptions of a region of Chromosome 15, all involving a single gene, UBE3A.

AS was first identified in 1965 by a British doctor, Harry Angelman, for whom it is now named. Dr Angelman had noticed similarities between a small number of previously undiagnosed children under his care, seeming to indicate they had common issues. After seeing a painting in a museum in Italy called ‘A Boy with a Puppet’, he was inspired to write a medical paper titled ‘Puppet Children’, due to the characteristic happy demeanour and stiff jerky movements of the children.

At first, little was known of the disorder and few other cases were identified. During the 1980s advances in genetic medicine made it possible to diagnose increasing numbers of cases and also to start identifying the cause. The name Angelman Syndrome was adopted in 1982.