Sunday, September 2, 2012

Have You Heard of fragile X Syndrome?

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The most tasteless characteristic of fragile X syndrome is mental retardation, which is also true of kids with Down syndrome and autism. In fact, fragile X is said to be the prominent cause of Autism. More specifically, fragile X is caused by a faulty genetic code that fails to pass on protein synthesis information.

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Physical features like large heads, prominent foreheads and chins, loose joints, large testicles and protruding ears, may not fabricate until puberty. In some cases, the parents are carriers of this mutation but it doesn't necessarily mean the symptoms will show up or that they will be passed on to their children.

Physical characteristics of fragile X look 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 tasteless corporeal symptoms.

These features are more tasteless 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 gift 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 settled on education, therapy and sometimes medication to treat behavioral side effects. Thanks to the Individuals with Disabilities education Act (1997), parents can secure free educational services and devices for their children from age 3 until high school.

The law additional mandates that children be taught in an individualized environment, so a mixture of one-on-one tutoring, small group work and classroom education may all be used. Often, Autism, fragile X and Down syndrome education are very similar, with an emphasis on early speech therapy, occupational therapy, corporeal therapy to enhance coordination and behavioral therapy.

If a woman is diagnosed with fragile X syndrome, then she has a 50% occasion of passing the gene on to her children. Yet a male carrier has 100% occasion of passing the gene on to his daughters, who always inherit his X chromosome, and no occasion of passing the gene onto his sons, who only get his Y chromosome.

If the amount of protein repeats stays the same when passed down, then the child will be someone else pre-mutation carrier that may show no symptoms; however, if the amount of repeats exceeds more than 200, the child will have the full mutation. Boys tend to suffer more of the symptoms of Down syndrome type retardation and corporeal expressions.

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