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.
A Stronger United AS Community?
We are fortunate in Australia to have two dedicated organisations working together to help those with Angelman syndrome (AS) and their families achieve the best quality of life. Angelman Syndrome Association Australia (ASAA) and Foundation for Angelman Therapeutics Australia (FAST Au) have been working together after a meeting in Melbourne in June to discuss how to collaborate and best serve the Australian community together moving forward.
Both organisations have a core mission to improve the quality of life for our loved ones diagnosed with Angelman syndrome and we both do that in different ways.
The goal of ASAA is to support, inform, educate, network, promote research and to advocate for families affected by AS. ASAA is focussed on providing family support for all the day-to-day aspects of managing and planning with AS. This is achieved through direct family support, education and social events at a national and state level, accessible information on the ASAA website and development of AS specific resources, such as our NDIS Guide for AS Families.
The goal of FAST Au is to fund and collaborate in research aimed at improving the quality of life and understanding for individuals with AS. When new information is made publicly available, FAST Au will help to distribute and educate on the developments including where hard-earned donations are spent. FAST Au can help you to raise funds in your local community or on a large scale to help further research into Angelman syndrome.
Both organisations work collaboratively to advocate for our loved ones.
Initiatives resulting from our partnership include a joint brochure detailing information on each organisation and how they complement each other, joint conferences and working together to help AS families connect into one cohesive Angelman syndrome community instead of being fragmented between two organisations and social media. Together we will search for the misdiagnosed or undiagnosed families within the wider community. The greater our collective AS voice, the greater our power to advocate for our community, the greater the chance we can provide comprehensive support for families and progress research into treatments for our loved ones
We are excited about the opportunity to work together in a stronger united community and we hope that you are as well.
Laura Greene (ASAA president) and Meagan Cross (FAST Au chairperson)
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.