Angelman Syndrome is a genetic condition that mainly affects the development of the nervous system. It occurs when a piece is missing from Chromosome 15 and this occurs before birth.
There is no current cause found for why this genetic change occurs, but it is thought to occur at random. Around one in every 15,000 babies born will have Angelman Syndrome.
People who are born with Angelman Syndrome may have physical characteristics such as a smaller head, wide mouth, developmental delay, intellectual disability and balance and movement issues. A happy disposition is also a common feature of this condition.
A diagnosis can be made on genetic testing and our doctors at Adelaide Disability Medical Services are happy to assist in this process. The South Australian Clinical Genetics Service is also available for genetic counselling and testing of individuals.
There is no cure available for Angelman Syndrome, however there are treatments available for many of the associated health issues such as epilepsy and strabismus (having eyes which look in different directions).
We often use Allied Health Professionals to assist with speech and language delay and to improve muscle tone.
Our doctors at Adelaide Disability Medical Services are able to utilise GP Management Plans to facilitate access to those who are eligible for this service.