ANGELMAN syndrome is a genetic condition that affects the nervous system and people who have it will need support through their lives.
But what are the symptoms of the condition, how is it caused and how do medics treat it?
The NHS states that people with Angelman syndrome have severe physical and learning disabilities.
It’s caused by chance at conception and usually, the parents of a child with the condition will not have the syndrome.
It happens when the UBE3A gene is missing or not working properly and most cases are caused by children who don’t get a copy of the gene from their mother or the gene doesn’t work.
This means there is no active copy in the brain.
A child with the condition will start to show symptoms at around 6 to 12 months of age, such as being unable to sit unsupported or make babbling noises, the NHS says.
Later they might not be able to speak and most people with the condition will be able to use hand gestures and signs.
Their movement will also be restricted and patients might have difficulty walking.
The NHS says there are several distinct behaviours a child with the condition will have:
- frequent laughter and smiling, often with little stimulus
- being easily excitable, often flapping the hands
- being restless (hyperactive)
- having a short attention span
- trouble sleeping and needing less sleep than other children
- a particular fascination with water
Once patients reach two years old they may also have a small head which is flat at the back.
Other possible signs and symptoms include a tendency to stick the tongue out and crossed eyes.
Children might also have a wide mouth with widely spaced teeth and could walk with their arms in the air.
The condition is diagnosed with a blood tests and is followed with several genetic tests that are also done with a blood sample.
How it’s treated
If your child has Angelman syndrome then there are treatments they can receive to help manage their symptoms.
Anti-epileptic medication can be used to control seizures and physiotherapy can also help improve posture, balance and walking ability.
They might also be offered communication therapy which would help them develop their non-verbal language skills.
Kids might also be given behavioural therapy to help with hyperactivity and short attention span.
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