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What is Fragile X?

What Is Fragile X Syndrome?

• Fragile X Syndrome is the most common genetic form of inherited mental impairment.

• Affected people can have learning impairment, speech and language delays, social anxiety, hyperactivity, short attention span, impulsivity, hypersensitivity to stimuli such as sound, touch, and taste, hyper flexible joints and low muscle tone. Some also suffer from epilepsy. Most individuals do not live independently.

• Fragile X Syndrome and Autism appear to be inextricably linked – the majority of individuals with Fragile X Syndrome have some form of autism-like symptoms.

• Fragile X Syndrome is caused by the silencing of a single gene, which was discovered in 1991. Basically, in affected people a protein required for normal brain function is missing.

• There are 1.4 million people affected by Fragile X Syndrome worldwide and 17.5 million people who carry the Fragile X Syndrome gene.

• Both males and females can be affected, but because boys have only one X chromosome, Fragile X Syndrome is likely to affect them more severely.

• Carriers can also have medical conditions such as early menopause, a tremor, Ataxia Syndrome (a neurological condition often misdiagnosed as Parkinson’s), anxiety, depression, and severe migraines.

• All races and ethnic groups are affected worldwide.

• Because it is inherited, once one individual is diagnosed, then the whole family should also be tested as they may be carriers of the Syndrome gene.

This film “Hitting the Mark” follows families living with Fragile X Syndrome, and gives a heart-felt insight into the condition:

What causes Fragile X Syndrome?

Fragile X Syndrome is a genetic condition caused by the silencing of a single gene on the X chromosome. This causes a deficiency of a protein required in normal brain development. The disorder was coined Fragile X Syndrome because under a microscope a fragile X chromosome has an abnormal appearance at the tip which looks as if it is breaking off, or “fragile”.

Can Fragile X Syndrome be cured?

Currently, there are many medications and therapies that can help but no cure has yet been found. However, because the disease is caused by a single deficient gene, scientists are confident that new therapies can be developed which will slow or reverse the symptoms of Fragile X Syndrome.

In numerous animal models, some experimental Fragile X Syndrome therapies have been seen to prevent the development of abnormal brain function. We are also confident that any discoveries we make about Fragile X Syndrome will also help in our understanding of Autism.

Recently, the New York Times reported that Novartis (the Swiss pharmaceutical giant) ran a small clinical trial in Fragile X Syndrome patients which seemed to bring about improvements in the autistic-like behaviours associated with Fragile X Syndrome. Details on the trial and results are discussed in an article which ran in the New York Times, earlier this year. Please see link below.

NEW YORK TIMES ARTICLE

Why support Edinburgh University’s Fragile X initiative?

The University of Edinburgh is establishing a major new centre for Fragile X Syndrome and Autism Research. This is the first UK Centre for Research into Fragile X Syndrome and related disorders. The University of Edinburgh is committed to raising approximately £1,000,000 over 5 years to fund vital research which will develop therapeutic interventions for a wide range of cognitive impairments in both children and adults. The University is bringing together neuroscience experts who are working together to understand more about Fragile X Syndrome and Autism, with the aim of improving diagnosis and discovering new therapies to reverse the condition.

As a closing note ….

When Lionel Messi was just nine years old, he was diagnosed with a growth hormone deficiency. Doctors predicted he would grow no taller than 4 feet, 7 inches. To counteract the deficiency, Messi was injected with HGH into his legs every night as a kid. Having suffered a hormonal problem himself, Messi is keen to help other children with genetic conditions and has been committed to raising funds for Fragile X Syndrome research in Barcelona. He once commented:

“I know how important it is to have a helping hand. In my childhood I had difficult times because of hormonal problems. If I hadn’t had support, I wouldn’t have been able to fulfil my dreams.”

LIONEL MESSI

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