What is Angelman syndrome?

Angelman syndrome is a genetic condition. It occurs if a gene called UBE3A is missing or faulty. When this gene is faulty or missing, nerve cells in the brain don’t work properly, causing a range of physical and intellectual problems.

Angelman syndrome is rare, occurring in around 1 in 15,000 to 20,000 people.

What are the signs or symptoms of Angelman syndrome?

If your child has Angelman syndrome, you may notice that your child isn't developing normally at around 6 to 12 months of age. But it can take a while to find 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 Angelman syndrome, there is a gene on chromosome 15 that is missing or faulty. This gene is responsible for creating a protein that is expressed in the brain. Without this protein, your child will have symptoms of Angelman syndrome. In most cases, Angelman syndrome isn't inherited from parents, but happens by chance, around the time of conception.

How is Angelman syndrome diagnosed?

In order to diagnose Angelman syndrome, a paediatrician will examine your child and observe their behaviour. They will also take a blood sample for genetic testing. The genetic test that is usually used to diagnose Angelman syndrome is called DNA microarray testing.

As well as confirming the cause of your child’s symptoms, genetic testing can help predict whether any of your future children are at risk of Angelman 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.

The following therapies can help your child manage some of the challenges of living with Angelman syndrome:

• speech therapy and communications and social skills training
• occupational therapy
• physical therapy to improve posture, balance and movement
• physical supports such as back or leg braces
• special education
• medicines to control seizures such asantiepileptic medicines
• therapy to help behavioural problems such as hyperactivity

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 should be provided by a team of health professionals.

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