What is Angelman Syndrome?
Angelman syndrome is a genetic disorder that affects the nervous system and causes severe physical and intellectual disability. It is relatively rare, occurring in around 1 in 15,000-20,000 people. It was first discovered in 1965 by Dr Harry Angelman. 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. Typical characteristics of Angelman syndrome include: Delayed development (usually noticeable from 6-12 months of age); Severe language impairment, with little or no speech; Movement and balance problems (ataxia); Frequent seizures (epilepsy) in around 85% of cases; A small head size (microcephaly); Sociable behaviour with frequent smiling. In most cases, Angelman syndrome isn't inherited from your parents and the genetic anomaly responsible for the syndrome occurs by chance around the time of conception. However, in some families, more than one child is affected. Download full PDF doc.
Global Angelman Syndrome Registry
The Global Angelman Syndrome Registry is the first online Patient Driven registry for Angelman Syndrome; putting power in the hands of those who care for someone with the Syndrome. Parents and caregivers will drive the collection of data by volunteering details that will form what we expect to be the largest collection of information on Angelman Syndrome to date - read more and Join the Registry
A-BOM: Angelman Biomarkers & Outcomes Measures Alliance
The Angelman Biomarkers and Outcome Measures Alliance (the A-BOM) is a new group formed by both FAST and ASF, together with researchers and pharmaceutical corporations to help move new treatments to the clinical trial phase. There are many new medications and treatments for Angelman syndrome that are coming close to being ready for clinical trials - read more.
Support our Association
By clicking on the button below, you will be providing education and support for our Angelman syndrome families in Australia, by assisting them financially and also to educate the public by promoting awareness and interest in Angelman syndrome, to make a positive impact in the lives of individuals and families with Angelman syndrome.
Angelman Syndrome Clinic
The Angelman syndrome Clinic is a multidisciplinary service provided by an experienced team of health professionals in partnership with the Angelman Syndrome Association Australia. The clinic is located in the Developmental Assessment Service of The St. George Hospital at Kogarah, NSW. The Angelman syndrome Clinic originally began in October 1993 and successfully operated for many years due to the dedication and expertise of - read more.