FRAGILE X

To first hear the name, some might assume it is the name of a sci-fi movie, when in reality it is a disorder that affects many, but is very hard to diagnosis or detect. A vast majority of families never have the fortune of a diagnosis that explains why their child is different, and many adults function through life without ever being identified as having this mystifying disorder.

It is the most common form of learning disabilities and inherited mental retardation, affecting approximately one in 1,200 males and one in 2,500 females. From those affected, 1 in 259 females and 1 in 750 males carry the gene that will cause their children to be affected by Fragile X Syndrome.

In 1991, scientists discovered a gene named FMR1 that becomes mutated or defective, causing Fragile X Syndrome as the result of the gene becoming fully mutated and unable to function. As a result of the loss of function, the FMR1 gene does not make the protein it is responsible for. Some only have a FMR1 gene with a small defect or premutation, and therefore are carriers, with no signs or symptoms of Fragile X Syndrome. Adult males can pass the premutation to all their daughters but none of their sons. Each child of a woman with the premutation has a 50% chance of inheriting the gene. It can pass on for many generations before a child is found to have the disorder. Experts think that the missing FMR protein has a regulatory function in the brain, rather than a structural function, and that this protein is needed throughout a person's life. In other words, the fragile X protein probably affects the "software" of the brain, rather than the "hardware."

Symptoms of Fragile X include:

mental impairment, ranging from learning disabilities to mental retardation

attention deficit and hyperactivity

anxiety and unstable mood

autistic-like behaviors

long face, large ears, flat feet, and hyperextensible joints, especially fingers

Fragile X Syndrome can result in intellectual and cognitive impairments that range from mild learning disabilities with a normal IQ to severe mental retardation and autistic behaviors. It can exhibit a wide range of symptoms, including odd physical features like large ears and elongated faces, certain behavior patterns, developmental delays, and speech/language delays.

A DNA blood test was developed in 1992 to detect the disorder, and while there is no cure, there are a wide array of treatments parents can implement to help their child reach their full potential. Treatment might include, speech therapy, special education, occupational and physical therapy. Medication can be given in the case of hyperactivity, poor attention span, aggression, anxiety or depression.

The copyright of the article FRAGILE X in Children's Disabilities is owned by Terrie-Lynn Daley. Permission to republish FRAGILE X in print or online must be granted by the author in writing.

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