Lifestyle

What is Angelman syndrome?

ANGELMAN syndrome is an inherited condition that affects the nervous system and people with it will need support throughout their lives.

But what are the symptoms of this condition, how is it caused, and how do doctors treat it?

Angelman syndrome is diagnosed early in life and people with it will need treatment for the rest of their lives.

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Angelman syndrome is diagnosed early in life and people with it will need treatment for the rest of their lives.Credit: Alamy

The NHS states that people with Angelman syndrome have severe physical and learning disabilities.

It is caused by chance at conception and usually, the parents of a child with the condition will not have the syndrome.

It occurs when the UBE3A gene is missing or does not work properly, and most cases are caused by the child not receiving a copy of the gene from the mother or the gene not working.

This means that there are no active copies in the brain.

The NHS says a child with the condition will start to show symptoms around 6 to 12 months old, such as being unable to sit or babbling.

After that, they may not be able to speak, and most people with the disease will be able to use hand gestures and signs.

Their movement will also be limited and the patient may have difficulty walking.

The NHS says there are a number of distinct behaviors a child with the condition will exhibit:

  • laugh and smile often, often with little irritation
  • excitable, often clap hands
  • restless (hyperactive)
  • have a short attention span
  • have difficulty sleeping and need less sleep than other children
  • a special fascination with water

By the time the patient is two years old, they may also have a small, flat head at the back.

Other possible signs and symptoms include a tendency to stick out your tongue and roll your eyes.

Children can also have wide mouths with evenly spaced teeth and be able to walk with their arms through the air.

This condition is diagnosed with a blood test and then some genetic tests are also done with the blood sample.

How is it treated?

If your child has Angelman syndrome there are treatments they can receive to help manage their symptoms.

Antiepileptic drugs can be used to control seizures, and physical therapy can also help improve posture, balance, and walking.

They may also be offered communication therapy to help them develop their nonverbal language skills.

Children may also receive behavioral therapy to help with hyperactivity and inattention.

Interpretation of the genetic condition Angelman syndrome

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PaulLeBlanc

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