Fragile X syndrome

Fragile X syndrome is one of the most prevalent forms of inherited mental retardation. One-third of the people with this syndrome develop autism. Like a Down syndrome diagnosis, this genetic mutation causes physical, mental, social and motor skill impairment. Symptoms of fragile x patients stem from a deficiency in a certain protein, which is typically made by the mutated gene. While fragile x has no cure, there are therapies that have proven effective in life management.

Physical characteristics of Fragile X resemble signs of Down syndrome, with features like pronounced chins and foreheads, large heads and long ears that protrude from the head. Long faces, connective tissue problems, flat feet, ear infections, being double-jointed, having enlarged testicles and problematic menstrual cycles are other common physical symptoms. These features are more common for males over 10 and women who have gone through puberty. The classic long face, prominent ears and enlarged testes is said to only be present in 60% of cases. At least 10% of cases show only intellectual impairment.

To treat moderate or severe cases of Fragile X syndrome, emphasis is placed on education, therapy and sometimes medication to treat behavioral side effects. Thanks to the Individuals with Disabilities Education Act (1997), parents can obtain free educational services and devices for their children from age 3 until high school. The law further mandates that children be taught in an individualized environment, so a combination of one-on-one tutoring, small group work and classroom instruction may all be used. Often, Autism, Fragile X and Down syndrome education are very similar, with an emphasis on early speech therapy, occupational therapy, physical therapy to improve coordination and behavioral therapy.

Just as there are Autism and Down syndrome support networks, Fragile X syndrome has an organization of its own. The National Fragile X Foundation (NFXF) was created in 1984 to help individuals, their families and caregiver professionals. The organization works to increase awareness, improve education and advance research to find a cure. Parents can find over 300 pages of information at www.fragilex.org that can help them raise a developmentally disabled child.

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