What is Angelman syndrome?

Angelman syndrome is a rare, lifelong genetic condition that causes global developmental delay and intellectual disability.

Angelman Syndrome happens when a single gene, called UBE3A, is missing or isn’t working properly. This genetic change usually happens randomly. Rarely, Angelman syndrome can be inherited. When this happens, more than one child in a family might have the syndrome.

Angelman syndrome occurs in 1 in 10,000-250,000 births.

The syndrome is named after Dr Harry Angelman, the English doctor who first described it.

Signs and symptoms of Angelman syndrome

Children and teenagers with Angelman syndrome always have:

• intellectual disability and global developmental delay – for example, delays in the development of fine motor skills and gross motor skills
• movement or balance disorders – for example, jerky movements or lack of coordination (ataxia)
• severe speech problems – for example, little or no speech.

They often have a combination of the following:

• frequent laughter and smiles
• a happy nature
• an excitable nature, often with hand-flapping
• a short attention span
• hyperactivity
• fascination with water.

Most children and teenagers with Angelman syndrome have:

• microcephaly, which is often noticeable by 2 years of age
• seizures or epilepsy.

Some children and teenagers with Angelman syndrome also have:

• facial features that include a flattened back of the head, a wide smiling mouth, widely spaced teeth, and a squint
• physical features that include light hair and eye colour (compared with other family members)
• scoliosis
• sucking and swallowing problems, feeding problems when they’re babies, frequent drooling, and excessive chewing and mouthing
• gastrointestinal issues like constipation, reflux (GORD) and failure to thrive
• obesity when they’re older
• a tendency to hold their arms up and bent while walking
• increased sensitivity to heat
• severely disturbed sleep.

Diagnosis and testing for Angelman syndrome

Angelman syndrome isn’t usually obvious at birth or even when children are babies.

Angelman syndrome is most often diagnosed when children don’t meet the typical developmental milestones and its signs and symptoms become noticeable.

Health professionals diagnose Angelman syndrome by looking at the behaviour and physical features listed above and doing genetic tests. For rarer forms of Angelman syndrome, further testing might be needed.

Early intervention services for children with Angelman syndrome

If your child has Angelman syndrome, early intervention is the best way to support their development. Early intervention includes therapies, education and other supports that will help your child reach their full potential.

Early intervention should also include helping you learn how to spend time with your child in ways that support their development. Children learn the most from the people who care for them and with whom they spend most of their time, so everyday play and communication with you and other carers can help your child a lot.

You and your child will probably work with many health and other professionals as part of your child’s early intervention. These professionals include paediatricians, who’ll look after your child’s overall health and development, and neurologists, who’ll manage your child’s seizures. Other professionals might include behavioural therapists, occupational therapists , physiotherapists and speech pathologists.

Working in partnership with your child’s professionals is very important. When you combine your deep knowledge of your child with the professionals’ expertise, you’re more likely to get the best outcomes for your child.

Financial support for children and teenagers with Angelman syndrome

If your child has a confirmed diagnosis of Angelman syndrome, you might be able to get support from the National Disability Insurance Scheme (NDIS). The NDIS can help you get services and support in your community. The NDIS might also fund things like early intervention therapies or supportive equipment like walkers.

Looking after yourself and your family

It’s important to look after yourself physically, mentally and emotionally. If you take care of yourself, you’ll be better able to care for your child.

If you need support, you could start by talking with your GP. Your GP is there to give you and your child ongoing care and support.

A genetic counsellor might be able to help you understand how the change in your child’s genes happened. They can also help you learn about the condition and adapt to having a genetic condition in your family.

You can also get support from organisations like Angelman Syndrome Association Australia, Genetic Alliance Australia and Genetic Support Network of Victoria.

Talking to other parents can be a great way to get support too. Angelman Syndrome Association Australia has representatives throughout Australia who can connect you to other families close by. You can also join an online support group like Australian Families with Angelman Syndrome.

If you have other children, they might have a range of feelings about having a sibling with disability. They need to feel that they’re just as important to you as your child with disability – that you care about them and what they’re going through. It’s important to talk with your other children, spend time with them, and find the right sibling support for them.