Monday, March 14, 2011

Have You Heard Of Fragile X Syndrome?

Post by Mike Selvon








The most widespread characteristic of Fragile X syndrome is mental retardation, which is also true of youngsters with Down syndrome and autism. In reality, Fragile X is said to be the leading cause of Autism. Far more particularly, Fragile X is caused by a faulty genetic code that fails to pass on protein synthesis data.

Physical features like large heads, prominent foreheads and chins, loose joints, large testicles and protruding ears, may possibly not develop until puberty. In some instances, 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 young children.

Physical characteristics of Fragile X resemble signs of Down syndrome, with features like pronounced chins and foreheads, large heads and lengthy ears that protrude from the head. Long faces, connective tissue issues, flat feet, ear infections, being double-jointed, having enlarged testicles and problematic menstrual cycles are other widespread physical symptoms.

These functions are more common for males over 10 and women who have gone by way of puberty. The classic lengthy face, prominent ears and enlarged testes is said to only be present in 60% of circumstances. At least 10% of circumstances show only intellectual impairment.

To treat moderate or severe circumstances of Fragile X syndrome, emphasis is placed on education, therapy and occasionally medication to treat behavioral side effects. Thanks to the Individuals with Disabilities Education Act (1997), parents can acquire free of charge educational services and devices for their youngsters from age three until high school.

The law further mandates that young children be taught in an individualized environment, so a combination of one-on-one tutoring, little group work and classroom instruction could all be utilized. Frequently, Autism, Fragile X and Down syndrome education are very comparable, with an emphasis on early speech therapy, occupational therapy, physical therapy to enhance coordination and behavioral therapy.

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

If the number of protein repeats stays the identical when passed down, then the child will be another pre-mutation carrier that may possibly show no symptoms however, if the number of repeats exceeds much more than 200, the child will have the full mutation. Boys tend to suffer much more of the symptoms of Down syndrome kind retardation and physical expressions.



About the Author

Mike Selvon portal offers free articles on down syndrome. Find out a lot more about fragile x syndrome, and leave a comment at the down syndrome data blog.



No comments:

Post a Comment