What is Fragile X Syndrome?

 7th Jun 2017

Whilst it may sound like something out of a Marvel comic book, Fragile X syndrome is a challenge that manifests in children. It impacts on language, emotion, behaviour and attention making social interactions extremely challenging.

It’s also the most common inherited learning disability in the world and there’s a very good chance you’ve never heard of it.

Fragile X Syndrome is caused by the lengthening of the FMR1 gene on the X chromosome which stops production of a key protein in brain development. The more this mutation repeats the greater the chance of a child being born with the condition.

What Does it Look Like?

Children with Fragile X Syndrome will usually show signs they are experiencing challenges but not all children develop a learning disability. Of those who do, the majority are boys and only a third of girls develop issues.

Individuals with Fragile X Syndrome display a short attention span, act impulsively, experience restlessness, are easily distracted and often exhibit heightened senses.

Some also struggle with eye contact, anxiety, difficulty socialising and enjoy routine.

However no two individuals are the same.

This can sometimes lead to individuals with Fragile X Syndrome misdiagnosed as having conditions such as ADHD or autism.

Can it be Diagnosed?

There are physical features that make diagnosis easier such as a long, narrow face, a prominent jaw and ears but this isn’t always apparent in young people hence the possibility for misdiagnosis.

Fortunately a blood test will deliver a definitive answer so if you’re not satisfied with the diagnosis given to you by your GP and you’re concerned your child (or someone you know) does have Fragile X Syndrome you at least have recourse.

If your family has a history of Fragile X Syndrome you can also get yourself tested to see if you’re a carrier.

Unfortunately women have a 50% chance of passing the permutation or full mutation on to their child so if you or someone you know has a blood relative with Fragile X Syndrome and plan on starting a family, it is worth getting tested.

Can some with Fragile X Syndrome Lead a Normal Life?

It depends on the severity of the condition. Individuals who don’t manifest learning disabilities are able to live with little or no support, although they may find building strong relationships a challenge.

But that really isn’t to say that an individual with Fragile X Syndrome can’t and won’t lead a full and happy life.

In instances where the individual does have learning disabilities they may need varying levels of support – particularly around communication and social interaction – and in the milder cases some may be able to sustaining a degree of independent living.

This may not be the case in the more severe instances.

There are a number of support agencies and charities set up to support individuals and their support circle with Fragile X Syndrome.

If you or someone you know experiences challenges with learning disabilities in the Dorset area we may be able to help. Contact us today to speak to a member of the team or find out more about us by click on the links below.

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