What is Angelman syndrome?
Angelman syndrome is a genetic disorder that affects the nervous system. It causes severe developmental delay and intellectual disability.
In most cases, Angelman syndrome happens when a small bit gets left off chromosome 15 around the time of conception. In a few families Angelman syndrome is inherited, so brothers and sisters could be affected.
Angelman syndrome is a rare condition. It happens in 1 in 10 000-25 000 births. It affects boys and girls equally.
The syndrome is named after Dr Harry Angelman, an English doctor who first described this syndrome.
Signs and symptoms of Angelman syndrome
The following signs and symptoms are always seen in children with Angelman syndrome:
- severe intellectual disability and 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
- a combination of frequent laughter and lots of smiles; a happy nature; an excitable nature, often with hand-flapping; a short attention span; and hyperactivity.
More than 80% of children with Angelman syndrome also have:
a small head size, which is often noticeable by two years of age
irregular brain wave patterns (which can cause seizures or epilepsy).
Other traits also seen in children with with Angelman syndrome can include:
facial features that include a flattened back of the head, a tongue that sticks out, a wide mouth and widely spaced teeth, and eyes that look in different directions (strabismus)
physical features that include light hair and eye colour (compared with other family members), curvature of the spine (scoliosis) and flat, out-turned feet
sucking and swallowing problems, feeding problems when they’re babies, frequent drooling, and excessive chewing and mouthing behaviour
constipation and obesity
a tendency to hold their arms up and bent while walking
increased sensitivity to heat
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. Most children are diagnosed between 18 months and six years old. This is when the behaviour and physical symptoms become more noticeable.
Health professionals diagnose Angelman syndrome by looking at the behaviour and physical features listed above. They also do genetic diagnostic tests.
Early intervention services for children with Angelman syndrome
Although there’s no cure for Angelman syndrome, early intervention services can improve outcomes for your child and treat his symptoms. Through these services, you can work with health professionals to support your child and help him reach his full potential.
The team of professionals involved in supporting you and your child might include physiotherapists, speech pathologists and occupational therapists, as well as paediatricians, who will look after your child’s overall health and development, and prescribe medication if your child needs it for epilepsy.
Together, you and your team can choose treatment and therapy options to best help your child.
Services and support for children with Angelman syndrome
Learning as much as possible from your health specialists will help. It’s OK to ask lots of questions.
Many services and supports can help your child with Angelman syndrome achieve her potential. But finding your way through the disability services system can be tricky. Our Disability Services Pathfinder can help.
If you live in a National Disability Insurance Scheme (NDIS) trial area and your child has a confirmed diagnosis of Angelman syndrome, your child can get support under the NDIS. The NDIS helps you get services and support in your community, and gives you funding for things like early intervention therapies or one-off items like wheelchairs.
If you don’t live in one of the NDIS trial areas, your child can get funding under the Better Start for Children with Disability initiative. If your child is eligible for the NDIS, he’ll be moved over when it becomes available in your area. Read our NDIS and Better Start FAQs.
Looking after yourself and your family
If your child has Angelman syndrome, it’s easy to get caught up in looking after her. But it’s important to look after your own wellbeing too. If you’re physically and mentally well, you’ll be better able to care for your child.
If you need support, a good place to start is with your GP and genetic counsellor. You can also get support from organisations like Genetic Alliance Australia.
Looking after siblings
Siblings of children with disability have good times and not so good times, just like everyone else. It’s important to find the right support for them too.