What is Fragile X syndrome?


FRAGILE X Syndrome is a condition that causes a wide range of issues including cognitive impairment and learning difficulties.

But what is it exactly, and can it be inherited?

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Fragile X can cause various difficulties with learning, and social, attentional, language, behavioural and emotional problems

What is Fragile X syndrome?

Fragile X Syndrome is genetic condition that affects around 1 in 4,000 males and 1 in 6,000 females.

It can cause various difficulties with learning, and social, attentional, language, behavioural and emotional problems.

Some may also have connective tissue issues like difficulty breast-feeding, hyperflexibility, hypotonia, recurrent ear infections, mitral valve prolapse and flat feet.

Though there is currently no cure for it, there are a range of treatments and management strategies that are of great benefit those living with it.

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The earlier treatments and interventions are received the better the outcomes will be in later life, so an early diagnosis is vitally important.

What are the symptoms of Fragile X Syndrome?

The condition has a wide range of characteristics, though a person who has it may only experience some of them.

Around 1 in 3 people with Fragile X Syndrome are also diagnosed with autism.

Though not everyone with FXS has autism, many of the behaviours associated with it are autistic-like.

Among those who have FXS, almost all boys will have a learning disability, while among girls this is just a third.

This is because females have two X chromosomes and usually only one of them is affected by the syndrome, which means the impact of having Fragile X varies.

While some females will appear to be unaffected, others have mild or more severe learning disability.

Can Fragile X syndrome been inherited?

Fragile X Syndrome can be inherited and is the most common inherited cause of learning disability.

You can get a DNA blood test to tell you whether you’re a carrier of the condition.

Getting a diagnosis is important for ensuring that children affected by it receive the help they need.

Adults who have it will experience specific problems and the condition can be better understood and managed after a confirmed diagnosis.

Having a diagnosis will have implications for relatives and some might be at risk of having specific medical conditions and their children could be affected by the condition.

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If you or your family are affected by FXS, charity the Fragile X Society offer support and information for families, carriers and people living with it in the UK.

You can find find their contact information here.





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