Home » Mental Retardation » Fragile X syndrome Fragile X syndrome is also known as Fragile X and is one of the most common forms of mental retardation inherited from forefathers. The disease is the result from any ongoing process of mutation in a single gene. The gene is known as the Fragile X Mental Retardation 1 (FMR1) gene found on the X chromosome. This changed gene is passed from generation to generation resulting in the development of Fragile X syndrome. The scientific reason behind the occurrence of the symptoms of Fragile X syndrome is the lack of enough protein PKU (phenylketonuria) production by the mutated gene that the body cells might require for their development and to coordinate and function properly. The effects of Fragile X are mostly noticeable on intelligence. It has been proved medically that above 80 percent of males with Fragile X syndrome has an IQ level of 75 or less. This effect on intelligence is more variable in the case of females than males, with some having mental disability or learning impairment or some having a normal IQ.

To identify people with Fragile X syndrome, there are certain medical problems and many common physical characteristics like large ears and a long face. Moreover, Fragile X is also often associated with sensation, emotion, and behavioral problems. In general Fragile X occurs, as the FMR1 gene is not able to make usable Fragile X Mental Retardation Protein, or FMRP in proper required amount.

At present researchers cannot identify exactly the number of affected people having either the full mutation or the pre-mutation form of the FMR1 gene. This is because it is difficult to point out patients with Fragile X syndrome as not everyone with Fragile X share similar signs and symptoms and also the degree of the disease might vary from person to person. Some of the common associated diseases of Fragile X syndrome are like the fragile X-associated tremor or ataxia syndrome (FXTAS), under which balance, tremor and memory is affected in some aged male gene carriers and the fragile X-associated premature ovarian failure (POF), which can result in infertility and premature menopause in some female gene carriers. The signs and symptoms of Fragile X are identified in five categories like Intelligence and learning, Physical, Social and emotional, Speech and language, and Sensory.

The National Institute of Child Health and Human Development (NICHD) is one of the major research organizations on Fragile X syndrome. They also provide support to the clinicians and scientists all over the world who are engaged in discovering effective behavioral therapies, medical treatments, and prevention strategies for Fragile X.

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