Angelman syndrome
5-minute read
Key facts
- Angelman syndrome is a genetic condition that is caused by a faulty or missing gene.
- Angelman syndrome causes intellectual disability and delayed development.
- Angelman syndrome is usually diagnosed using a genetic test.
- Angelman syndrome can't be cured, but there is a range of therapies that can improve your child's quality of life.
- Support for people with Angelman syndrome and their families is available.
What is Angelman syndrome?
Angelman syndrome is a genetic condition. It happens when you have a faulty or missing gene. This causes a range of physical and intellectual effects.
Angelman syndrome is rare. It happens in around 1 in 10,000 people.
What are the symptoms of Angelman syndrome?
Symptoms of Angelman syndrome are:
- delayed development
- severe intellectual disability
- problems with balance and movement — walking with stiff legs and making jerky arm movements
- needing less sleep than most people, especially as children
- being happy and excitable a lot of the time
- speaking very little, or not at all
- being restless and excitable
Other symptoms of Angelman syndrome are:
- 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
Sleep issues and seizures may improve with age.
CHECK YOUR SYMPTOMS — Use the Symptom Checker and find out if you need to seek medical help.
What causes Angelman syndrome?
Angelman syndrome is caused by a missing or different gene on chromosome 15.
This gene creates a protein that is seen in the brain. Without this protein, symptoms of Angelman syndrome will develop.
In most cases, Angelman syndrome happens by chance and isn't inherited from the parents.
When should I see my doctor?
See your doctor if you have any concerns about your child's development.
FIND A HEALTH SERVICE — The Service Finder can help you find doctors, pharmacies, hospitals and other health services.
How is Angelman syndrome diagnosed?
Your doctor will examine your child and ask you about their symptoms. They may refer your child to a paediatrician (children's doctor).
The paediatrician will examine your child and watch their behaviour.
The doctor may arrange for your child to have a genetic test. This test can detect Angelman Syndrome.
ASK YOUR DOCTOR — Preparing for an appointment? Use the Question Builder for general tips on what to ask your GP or specialist.
How is Angelman syndrome treated?
Angelman syndrome can't be cured. However, there are a range of therapies that can help improve your child's quality of life:
- 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
- supportive education
- medicines to control seizures, such as antiepileptic medicines
- therapy to help behavioural problems such as hyperactive behaviour
Living with Angelman syndrome
Your child will need life-long care to help them achieve the best possible quality of life. Ideally, this care should be provided by a team of healthcare professionals.
Special education and therapy programs can help people with Angelman Syndrome to communicate and develop skills for daily life.
People with Angelman Syndrome can't live independently. But with support, they can be socially active, enjoy activities and continue to thrive.
People with Angelman syndrome can have good general health and a near-normal life expectancy.
Complications of Angelman syndrome
Complications of Angelman Syndrome include:
- constipation
- reflux
- problems with their eyesight
- seizures
- scoliosis — the sideways curvature of your spine
- obesity
- behaviour and sleeping problems
Adults with Angelman Syndrome may become less mobile with age.
Resources and support
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.
Support for families and carers
Support for people with Angelman syndrome and their families is available from:
Genetic testing can help predict whether any of your future children might also get Angelman syndrome.
See what respite care is available through:
Look into financial support available through:
- Centrelink (carer payments and allowances)
- NDIS and Angelman Syndrome
- Carer Payments through Carers Australia
You can also call the healthdirect helpline on 1800 022 222 (known as NURSE-ON-CALL in Victoria). A registered nurse is available to speak with you 24 hours a day, 7 days a week.