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 is rare, occurring in around one in 15,000 to 20,000 people.

What are the 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:

• seizures
• a small head, which is flat at the back
• certain facial features, such as widely spaced teeth and eyes that look in different directions

What causes Angelman syndrome?

In most cases, Angelman syndrome isn't inherited from your parents, but happens by chance, around the time of conception.

How is Angelman syndrome diagnosed?

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 any future children are likely to have the syndrome.

How is Angelman syndrome treated?

Angelman syndrome can't be cured, but there is a range of therapies that can improve the quality of life of those affected.

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

Resources and support

Support for people with Angelman syndrome and their families is available from:

• Angelman Syndrome Association Australia
• Foundation for Angelman Syndrome Therapeutics

Visit healthdirect's genetic disorders guide to learn more about genes, types of genetic disorders and where to go for help and more information.