Angelman syndrome is a rare condition that causes physical and intellectual disability. Although it can't be cured, there are a range of therapies that can improve the quality of life of those affected.
What is Angelman syndrome?
Angelman syndrome is a genetic condition. Most people with Angelman syndrome have a gene called UBE3A that is absent or faulty. When this gene is faulty or missing, nerve cells in the brain are unable to work properly, causing a range of physical and intellectual problems.
It can be inherited from your parents, but usually happens by chance, around the time of conception.
Signs or symptoms of Angelman syndrome
Parents often notice their child isn't developing properly at the age of 6 to 12 months. But it can take a while to pin down the source of the problems.
People with Angelman syndrome often:
- laugh and smile for no apparent reason
- speak very little, or not at all
- have severe intellectual disability and delayed development
- have problems with balance and movement, such as difficulty sitting up without support, walking with stiff legs and making jerky arm movements
- are restless and excitable
- need less sleep than most people, especially as children.
Some people with Angelman syndrome have:
- a small head, which is flat at the back
- certain facial features, such as widely spaced teeth and eyes that look in different directions.
Diagnosing Angelman syndrome
A paediatrician would examine the child and his or her behaviour. A blood sample would also be taken for genetic testing.
If testing is able to show the genetic cause of the syndrome, parents can find out if it is likely to happen again with any future children they may have.
Living with Angelman syndrome
People with Angelman syndrome have a near-normal life expectancy, but need life-long care to help them achieve the best possible quality of life. Ideally, this care is provided by a team of health professionals.
Some treatments and therapies that may help include:
- medications, such as anti-epilepsy drugs
- physical supports, such as back or leg braces
- therapy to improve posture, balance and movement
- therapy to develop communication skills
- therapy to help behavioural problems such as hyperactivity.
Where to go for help
Support for people with Angelman syndrome and their families is available from:
Visit healthdirect's genetic disorders guide to learn more about genes, types of genetic disorders and where to go for help and more information.
Last reviewed: September 2016