Fragile X syndrome Detailed Information

 Fragile X syndrome also known Martin-Bell syndrome. It is caused by an abnormality in a single gene. Fragile X syndrome caused by mutation of the FMR1 gene on the X chromosome. It affects approximately 1 in every 1,000 to 2,000 male individuals, and the female carrier frequency may be substantially higher. Males afflicted with this syndrome typically have a moderate to severe form of intellectual handicap. Females may also be affected but generally have a mild form of impairment. All males who carry the mutation will pass it to their daughters.

Females have a 50% chance of passing the condition to their children. Boys and girls can both be affected, but because boys have only one X chromosome, a single fragile X is likely to affect them more severely. Girls with fragile X syndrome generally have fewer physical signs of the disorder than males, though some have large ears. Fragile X-associated primary ovarian insufficiency (FXPOI), a problem with ovarian function which can lead to infertility and early menopause in some female gene carriers. Symptoms of Fragile X syndrome include hyperactivity, attention deficit disorder, emotional and behavioural problems, anxiety and mood swings.

There may also be characteristic facial features, such as a long face and large ears. Other physical features include flat feet and hyperextensible joints. Fragile X has no cure. But several treatments are recommended for individuals with this disorder, including mild medications for behavior problems and therapies for speech and language and sensory improvement. Some children with fragile X syndrome benefit from medications that improve their behavioral symptoms so that they are better able to learn. Some commonly used medications include antidepressants, stimulants (such as Ritalin, used for hyperactivity).

Other medications anti seizure drugs it is a most commonly used for behavioral and mood problems. Genetic counseling may help parents and families overcome the worry and distress of a positive test. Genetic counseling is important for women who have premutations and full mutations or who are carrying an affected child. Local fragile X associations can assist by providing support by families in a similar situation and in referring families to professional sources of counseling.