Fragile X Syndrome: Causes and Symptoms Continue to Elude Researchers

The rising number of children born with conditions that affect their social behaviour and intellectual development has been increasing alarmingly over the last decade.

Caused by genetic mutation Autism Spectrum Disorders have varied symptoms and are becoming increasingly complex in their behaviour.

What is known about Fragile X Syndrome.
Even after years, Fragile X Syndrome continues to elude researchers.

Fragile X Syndrome or FXS has been touted as a suspected cause of Autism in multiple cases. This particular disorder is caused by the genetic mutation of Fragile X Mental Retardation 1 gene, commonly abbreviated as FMR1, found in the X chromosome.

As with autism, it affects male children more often than females. Normally the FMR1 has a range of 6-50 repeats in the X chromosome. However, in some people the gene get repeated over 50-200 times, making the individual a carrier of FXS.

When the gene gets repeated over 200 times, lengthening the chromosome, it caused the FXS. The syndrome often gets passed from mother to baby and increases as the generation progresses.

RELATED NEWSHopes Dim as Clinical Trials Fail for Fragile X Syndrome

Affecting behaviour, social skill, as well as physical appearance, FXS sometimes take years to diagnose. ADHD, anxiety, Autistic Symptoms, disrupted eye contact, developmental delays, delayed speech are all symptoms of FXS.  The FXS is in fact, one of the leading cause of Autism.

The physical appearance include elongated face, larger ears, mitral valve prolapse, larger testicles. All these symptoms may or may not be subtle.

Until now, there had been almost zilch medical intervention in attacking the root cause of FXS, given its complicated nature.  The drugs are still under clinical trial and are being tested on mouse models.

Unfortunately, the mouse models at many times do not reflect the exact human afflictions. Therefore, the drugs are still under trial.

The most common treatments are still about treating the individual symptoms. More Information at ghr.nlm.nih.gov.

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