What Is Fragile X Syndrome
What Is Fragile X Syndrome ?
Fragile X syndrome, caused due to defective DNA in the X chromosome, may result in developmental delays, and intellectual disability, among other symptoms.
The DNA on the X chromosome may have abnormalities which result in the symptoms associated with fragile X syndrome. Since the sex chromosome of boys have XY configuration with the X coming from the mother, they inherit the fragile X syndrome invariably from mothers. Girls have two copies of the X chromosome, one received from the father and the other from the mother. The effect of the fragile X is lesser in girls than in boys as girls have a healthy copy of X chromosome to compensate.
This genetic abnormality causes symptoms such as delayed development and intellectual disability in the affected children. Fragile X syndrome in boys is found to be responsible for most cases of mental retardation resulting from a genetic defect. However, many affected children have normal intellectual development. They usually have large ears which protrude outward; their forehead and chin are usually prominent too. Other typical symptoms include overly flexible joints and a tendency for mitral valve collapse and autistic behavior. These symptoms are more severe in boys than in girls. Boys may have large testes too, but it may become apparent only after they reach puberty. Women who have fragile X may reach menopause earlier than normal, usually around 35 years of age.
Genetic testing can detect the defective DNA indicative of fragile X syndrome. Testing can be done even before birth. Early detection facilitates early intervention. With appropriate treatments, which may include drug therapy with anti-anxiety drugs, antidepressants and stimulants, as well as occupational therapy and language therapy, a better outcome can be expected.
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Yasser Elnahas
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