Angelman Syndrome (AS) is a neuro-genetic disorder that causes severe physical and intellectual disability. It’s relatively rare, occurring in around 1 in 15,000 people. Typical characteristics of AS are not usually evident at birth, many present with feeding difficulties as infants and with delayed development at around 6-12 months of age. Angels (as they’re often called) have ongoing problems with movement and balance, and will go on to develop little or no speech. Around 85% will develop a seizure disorder that is often difficult to manage, and many will torment their parents with severe sleep disturbance for a good part of their childhood.
They tend to be joyful and have a happy demeanor, characterised by frequent laughing and smiling. Many Angels are attracted to water and love a bath or swimming, which usually involves a lot of excitement. People living with AS will however require, life-long care, intensive therapies to help functional skills and improve their quality of life, and a hell of a lot of input from a range of health professionals.
In most cases, Angelman Syndrome isn’t inherited and the genetic anomaly responsible occurs by chance around conception. It results from the loss of function of the UBE3A gene in the brain. The loss of the enzyme that is produced by this UBE3A gene prevents neurons from functioning correctly, leading to major deficits in learning and memory. The loss of this gene does not appear to affect neuronal development, so that theoretically neurons could function normally if UBE3A function is restored.
There is a lot of interest and excitement in the AS community around recent research developments, and we are told that finding treatments and even a cure for AS is not out of reach. However, it is a rare condition and raising funds for research is an up-hill battle.
The Foundation for Angelman Syndrome Therapeutics (FAST) is committed to this cause. They do a great job, you can learn more about this and/or make a donation to support AS medical research at the FAST website
This video was put together by FAST, to raise awareness and understanding in the community around AS.