Add to your...
The Center for Disease Control and Prevention estimates that 1 in 3,500-8,900 males are affected by the full FMR1 gene mutation of Fragile X syndrome, and 1 in 1,000 carry the pre-mutation form. For females, the numbers are higher, with 1 in 250-500 carrying the pre-mutation and 1 in 4,000 affected by the full mutation. Fragile X carries similar symptoms of Down syndrome and autism, including physical characteristics and learning disabilities. While there is no cure for Fragile X yet, specialized education is the most important treatment option.
Physical characteristics of Fragile X Syndrome can resemble children with 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.
Cognitive symptoms of Fragile X syndrome are also like the effects of Down syndrome. Thinking, problem solving, information processing, capacity to learn and overall IQ are all affected. Approximately 80% of males are cognitively delayed, with an estimated 10-15% having IQs above 70. The effects in women may vary extensively, depending on whether both X chromosomes are affected or not. The biggest weaknesses generally appear in sequential processing, auditory/visual skills, motor skills, short-term memory and arithmetic. However, people with Fragile X exhibit strengths in perceptual closure (ability to see a pattern), inference (developing a conclusion based on evidence) and physiological flexibility.
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.
No related posts.