What is Angelman syndrome?
Angelman syndrome is usually caused by problems with a gene called UBE3A, found on chromosome 15. In most children with Angelman syndrome, this gene is missing or isn’t working properly.
Angelman syndrome can be inherited from parents, but this is rare. When it happens, more than one child in a family might have Angelman syndrome.
Angelman syndrome is a rare condition. It happens in 1 in 10 000-25 000 births.
The syndrome is named after Dr Harry Angelman, an English doctor who first described this syndrome.
Signs and symptoms of Angelman syndrome
Children with Angelman syndrome always have:
- intellectual disability and global developmental delay – for example, delays in sitting and walking, fine motor skills development and toilet training
- severe speech problems – children might have no speech or only a few words
- movement or balance problems like jerky movements or lack of coordination when walking.
They also always have a combination of the following:
- frequent laughter and smiles
- a happy nature
- an excitable nature, often with hand-flapping
- a short attention span
More than 80% of children with Angelman syndrome also have:
- microcephaly, which is often noticeable by 2 years of age
- irregular brain wave patterns, which can cause seizures or epilepsy.
Children with Angelman syndrome might have:
- facial features that include a flattened back of the head, a tongue that sticks out, a wide mouth and widely spaced teeth, and a squint
- physical features that include light hair and eye colour (compared with other family members)
- scoliosis and out-toing
- sucking and swallowing problems, feeding problems when they’re babies, frequent drooling, and excessive chewing and mouthing
- obesity when they’re older
- a tendency to hold their arms up and bent while walking
- increased sensitivity to heat
- disturbed sleep
- attraction to and fascination with water.
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 are between 12 months and 3 years old. This is often when the signs and symptoms of Angelman syndrome become noticeable.
Health professionals diagnose Angelman syndrome by looking at the behaviour and physical features listed above. They also do genetic tests.
Early intervention services for children with Angelman syndrome
Early intervention is the best way to support your child’s 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 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 will look after your child’s overall health and development, and prescribe medication if your child needs it for epilepsy. Other professionals might include physiotherapists, speech pathologists, occupational therapists and behavioural therapists.
It’s good to see yourself as working in partnership with your child’s professionals. 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 with Angelman syndrome
If your child has a confirmed diagnosis of Angelman syndrome, your child can get support under the National Disability Insurance Scheme (NDIS). The NDIS helps you get services and support in your community. It also gives you funding for things like early intervention therapies or one-off items like wheelchairs.
Looking after yourself and your family
Although it’s easy to get caught up in looking after your child with Angelman syndrome, it’s important to look after your own wellbeing too. 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 or a genetic counsellor. 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. You can connect with other parents in similar situations by joining a face-to-face or an online support group.
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.