ANGELMAN syndrome, a genetic condition that affects your nervous system, is a life-long condition.
But what are the symptoms? How is it caused? And how can medics treat it.
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According to the NHS, people with Angelman syndrome may have learning and physical disabilities.
The condition is usually caused by a miscarriage and the parents of a child with it will not be affected.
This happens when the UBE3A genes is not functioning properly. Most cases are caused by children who either don’t have a copy of their mother’s gene or the gene doesn’t work.
This means that there is no active brain copy.
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.
Some people will not be capable of speaking later on, while others with the condition can use their hands to sign and make gestures.
Their movement may be limited and they might experience difficulty walking.
According to the NHS, there are several different behaviors that a child with this condition can exhibit:
- Many times, laughter and smiling can be found with very little stimulus
- Being easily excited, flapping the hands often
- being restless (hyperactive)
- Attention span is short
- Trouble sleeping, and less sleep than other children
- Water is a special fascination
Patients may develop a flattened head at the back when they reach age two.
Other signs and symptoms that could be present include the tendency to stick your tongue out or cross your eyes.
Children could also have a large mouth and many spaced teeth.
A blood test is used to diagnose the condition. The genetic tests are then performed using a sample of blood.
How it is treated
Angelman syndrome is a condition that affects children. There are many treatments available to help them manage their symptoms.
To control seizures, anti-epileptic medication may be used. Physiotherapy can also be used to improve posture, balance, and walking ability.
They may be offered communication therapy, which could help them improve their nonverbal language skills.
To help hyperactivity and short attention span, behavioural therapy may be offered to children.
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