Angelman syndrome is a rare genetic condition that affects the nervous system and causes physical and learning disabilities.
A person with Angelman syndrome has a near-normal life expectancy. But they will need support throughout their life.
Early signs of Angelman syndrome
A child with Angelman syndrome will begin to show signs of slow development at age 6 to 12 months.
For example, they may:
- need support to sit
- have delayed speech development
Some may never speak or may only be able to say a few words. But most children and adults with Angelman syndrome will be able to communicate using gestures, signs or other systems.
The movement of a child with Angelman syndrome will also be affected. They may have difficulty walking because of issues with balance and coordination (ataxia). Their arms may tremble or make jerky movements, and their legs may be stiff.
Some behaviours your child may have include:
- laughing and smiling often
- getting excited easily, often flapping their hands
- being restless (hyperactive)
- having a short attention span
- a fascination with water
- trouble sleeping
- needing less sleep than other children
By age 2, some children with Angelman syndrome may have:
- seizures or fits
- problems learning and communicating
Other possible signs of the syndrome include:
- sticking their tongue out
- squint (strabismus)
- a wide mouth with widely spaced teeth
- a curve in the spine (scoliosis)
- walking with arms in the air
- skin, hair and eyes that are a lighter shade than other family members
Feeding problems in babies
Some young babies with Angelman syndrome may find it hard to feed because they cannot suck and swallow properly.
In some cases, they may need to be fed through a feeding tube. This may be temporary or permanent.
Babies with Angelman syndrome may need to be treated for reflux.
Causes of Angelman syndrome
Angelman syndrome is a genetic condition. It usually happens when the gene known as UBE3A is either missing or has changed. This can happen during conception.
In most cases the child's parents do not have the condition.
Sometimes the cause of Angelman syndrome is unknown. When this happens children may have different conditions involving other genes or chromosomes.
Diagnosing Angelman syndrome
Your GP or paediatrician (children's doctor) may suspect Angelman syndrome if your child:
- is developing at a slower rate
- has some of the symptoms
A paediatrician or neurologist will do a genetic test on a sample of your child's blood. The results will tell them if your child has Angelman syndrome.
This test looks for:
- any genes that are missing
- changes in the mother's or father's UBE3A gene that they may have passed on
- changes in the child's UBE3A gene that would stop it from working
Knowing what gene change caused the condition helps the paediatrician understand your risk of having another child with Angelman syndrome.
But having a second child with Angelman syndrome is very rare.
Most children with Angelman syndrome are diagnosed between age 9 months and 6 years. This is when symptoms begin to show.
If your child is diagnosed with Angelman syndrome, talk to your paediatrician and genetic counsellor about what support they'll need.
Treating Angelman syndrome
Your child may benefit from treatments and aids including:
- anti-seizure medicine
- physiotherapy - to improve posture, balance and walking ability
- communication therapy - to help your child communicate with sign language and visual aids
- behavioural therapy - to help with hyperactivity and a short attention span
Clinical trials
Clinical trials are research studies that help you access new treatments.
Ask your doctor or care team if they know of any clinical trials that you may be eligible to join. If a clinical trial is relevant for you, they will discuss this with you.
If you take part in a clinical trial, you may benefit from a new treatment.
But there's also a chance that the new treatment turns out to be no better, or worse, than the standard treatment.
Clinical trials explained - angelman.ie
Living with Angelman syndrome
In later childhood, the seizures usually improve, but may return in adulthood.
As they get older, people with Angelman syndrome become less hyperactive and may sleep better.
All children and adults with the syndrome will have a learning disability and limited speech throughout their life. Adults may lose some mobility and have stiff joints.
People with Angelman syndrome usually have good general health. They are often able to learn new skills and how to communicate better.
Getting support
Find out more about:
You can also get support from Angelman Syndrome Ireland.