General information on Fragile X Syndrome

Fragile X Syndrome

Fragile X Syndrome is an inherited disorder which produces mental retardation. After Down's syndrome, Fragile X is the most commmon cause of mental retardation. It is thought to go undiagnosed in many patients.

Sufferers of `Fragile X' are usually mentally retarded, tall in stature, having a prominent nose, eyebrows and jaw, prominent long ears, large testes and are prone to epileptic fits.

Boys tend to be hyperactive, act impulsively, and have poor concentration.

Girls, on the other hand, tend to be shy and retiring in social situations, although can be as badly affected as boys.

Affected individuals of both sexes dislike change in their daily routine, avoid eye contact, and will often repeat phrases and sentences. They also have learning difficulties especially with mathematics.

The term `Fragile X' refers to the `X' chromosome which shows a defect when examined under the microscope. Chromosomes are thread like structures present inside the nucleus of every cell in our body. They carry genetic information that controls the growth and functioning of the entire body.

We have 23 pairs of chromosomes, one pair of which are termed the sex chromosomes. The female has an identical pair of sex chromosomes called `XX', whilst the male carries one `X' chromosome and a totally different chromosome the `Y' chromosome. Only the `X' chromosome is affected in the Fragile X disorder.

Males are more commonly affected by this condition, with nearly 1,500 men suffering from `Fragile X'. However, about 1,000 women carry the condition and so can pass on the tendency to develop the disorder, without showing any signs of having the syndrome themselves. About one third of female carriers show some degree of intellectual impairment.

There is no treatment for this condition, though some American research has shown that folic acid supplements can increase the attention span in some children.

Any child showing a delay in mental development should be tested for Fragile X syndrome. Once the condition is diagnosed, parents should receive genetic counselling to calculate the risk of any further child developing the disorder. Further information can be found at: The Fragile X Society http://www.fragilex.org.uk
IMPORTANT NOTICE : This content is from the Dr Chris Steele personal archive and is provided for convenience only. Information contained here may no longer agree with the most up to date medical advice. Please check with a medical professional before taking any action.

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