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More On Fragile X


What is Fragile X?

Fragile X is a genetically inherited mental impairment which ranges from mild learning disabilities to mental retardation.

What are the Symptoms of Fragile X?

  • Behavioral Characteristics: Individuals with Fragile X display autistic-like behavior which ranges from socially engaging and friendly to extreme shyness, gaze aversion and anxiety. Individuals with Fragile X Syndrom can be easily overwhelmed by sensory stimuli such as loud noises, crowds, textures, lights, etc.
  • Physical Characteristics: Most individuals with Fragile X look quite "normal." However, some physical features associated with Fragile X include a long narrow face, prominent ears, and a high palate. Other abnormalities include hyper-extensible joints, flat feet, heart murmur, spinal curvature, and crossed-eyes.
  • Cognitive Characteristics: Fragile X affects individuals very differently, especially in the area of Cognitive characteristics. They may range from a mild learning disability to mental retardation.

What Causes Fragile X?

Fragile X is caused by a mutation on the "X" chromosome. Females contain two X chromosomes and males have one X and one Y. For reasons still unknown, a gene near the end of the X chromosome mutates and repeats it CGG genetic code sequence.
A normal Chromosome contains 6 ot 50 of these CGG repeats. An expansion of the sequence from 50 to 200 CGG repeats is called a premutation and causes little to no symptoms. An increase of over 200 CGG repeats (sometimes into the thousands) is called a full mutation and results in Fragile X.

How Prevalant is Fragile X?

Fragile X is the number one cause of genetically inherited retardation. It is second only to Down Syndrome as a cause of mental retardation.
It is estimated that Fragile X affects approximately 1 in 2,000 males and 1 in 4,000 females. It is estimated that 1 in 259 females are carries of the premutation.
It is believed that 90% of individuals with Fragile X have not yet been diagnosed!

Is There a Cure for Fragile X?

Currently there is no cure for Fragile X syndrome, but treatments have been proven highly affective. The best therapies incorporate many stratagies such as medication, educational therapy, and behavioral management. Since individuals with Fragile X are hyper-sensative to different stimuli, Sensory Integration Therapy is very helpful in helping them adjust to their environment and process information better.