What is Angelman syndrome?
Angelman syndrome is a genetic disorder that affects the nervous system. It causes severe developmental delay and intellectual disability.
The genetic change that causes Angelman syndrome affects chromosome 15. Most children with Angelman syndrome have a ‘deletion’, or small piece missing, from chromosome 15.
This gene change usually happens around the time of conception. It isn’t usually inherited from parents. In a few families Angelman syndrome is inherited, though, 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 (microcephaly), 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 Angelman syndrome 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
- 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. Most children are diagnosed between 18 months and six years old. This is when the behaviour and physical symptoms 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
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 choose treatment options to support your child and help your child reach his full potential.
The team of professionals involved in supporting you and your child will include paediatricians, who will look after your child’s overall health and development, and prescribe medication if your child needs it for epilepsy. The team might also include physiotherapists, speech pathologists and occupational therapists.
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, and gives you funding for things like early intervention therapies or one-off items like wheelchairs.
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.
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, these siblings of children with disability need to feel that they’re just as important to you – that you care about them and what they’re going through. It’s important to talk with them, spend time with them, and find the right support for them too.