What is Angelman syndrome?
Angelman syndrome is a rare genetic condition affecting the nervous system.
Most people with Angelman syndrome have a
learning disability
A learning disability is to do with the way someone's brain works. It makes it harder for someone to learn, understand or do things.
and limited speech.
Some may have stiff joints and not be able to move as much as they’d like.
However, people living with the condition are usually healthy. They can learn ways to communicate and get new skills.
What causes Angelman syndrome?
In most families, the child's parents don’t have the condition.
Angelman syndrome is usually caused when the UBE3A gene is missing or not working properly. Sometimes the cause is unknown.
How does Angelman syndrome affect someone?
A child with Angelman syndrome will start to show signs of delayed development at around 6 to 12 months. Signs can include not being able to sit without support or making ‘babbling’ sounds.
As the child grows they may not speak at all – or may only be able to say a few words. Most children with Angelman syndrome will learn other ways to communicate, like using signs or gestures.
The child may find it difficult to walk because of balance and co-ordination problems. Their arms may tremble or make ‘jerky’ movements, and their legs may be stiff.
A child with Angelman syndrome may also:
- laugh and smile a lot with little encouragement
- be easily excited, often ‘flapping’ their hands
- be very restless
- have a short attention span
- have trouble sleeping and need less sleep than other children
- be fascinated with water.
A child with Angelman syndrome may not show all these symptoms.
How is Angelman syndrome diagnosed?
Most people with Angelman syndrome are diagnosed when they are between 9 months and 6 years.
Doctors will use a blood test to confirm the diagnosis and do genetic tests on the blood sample.
Where to go for help and support about Angelman syndrome
If your child is diagnosed with Angelman syndrome, talk to a doctor about what support they need.
AngelmanUK give information and support for parents and carers of people with Angelman syndrome.
Information about Angelman syndrome
In most families, the child's parents don’t have the condition.
Angelman syndrome is usually caused when the UBE3A gene is missing or not working properly. Sometimes the cause is unknown.
A child with Angelman syndrome will start to show signs of delayed development at around 6 to 12 months. Signs can include not being able to sit without support or making ‘babbling’ sounds.
Doctors will use a blood test to confirm the diagnosis and do genetic tests on the blood sample.
As the child grows they may not speak at all – or may only be able to say a few words. Most children with Angelman syndrome will learn other ways to communicate, like using signs or gestures.
The child may find it difficult to walk because of balance and co-ordination problems. Their arms may tremble or make ‘jerky’ movements, and their legs may be stiff.
A child with Angelman syndrome may also:
- laugh and smile a lot with little encouragement
- be easily excited, often ‘flapping’ their hands
- be very restless
- have a short attention span
- have trouble sleeping and need less sleep than other children
- be fascinated with water.
A child with Angelman syndrome may not show all these symptoms.
No. Angelman syndrome is a rare genetic condition affecting the nervous system.
Most people with Angelman syndrome have a learning disability and limited speech.
Some people with Angelman syndrome may have stiff joints and not be able to move as much as they’d like. However, people living with the condition are usually healthy. They can learn ways to communicate and get new skills.
More conditions linked with Learning Disability
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