Sunday, December 11, 2011

Fragile X Syndrome

Fragile X syndrome is a common form of mental retardation. This occurs when the FMRI gene- which produces protein, lacks the process of making protein. Some of the signs and symptoms are as follows
  •   People with this disease have an affected ability to think, reason, or learn because of an impaired intellectual function
  • At a young age, physical appearance is very slim, light skin, not much hair etc. But as the child hits puberty in their teen years they start to develop adult traits such as a longer face or jaw.
  • People with Fragile X syndrome are very stressful and become upset very easily.
  • Kids who try and speak either stutter somewhat or can have very large problems speaking words at all
  • Anything that makes a loud or unexpected noise can be heavily disturbing to people with Fragile X syndrome 
The gene FMRI is shown by the nucleotide triplet CGG which appears 6 to 50 times in an unaffected person. To detect if one has Fragile X syndrome they look for how many sequences of CGG you have and make sure it is in that range. If not they diagnose you with the syndrome.
While there is no cure or treatment, there are many therapies to get somebody through this disorder.
Putting the child through a special education class everyday is one option, and another is letting him/her be in a regular class to experience what it is like. There are also physical and occupational therapists as well as speech and behavioral.
This disorder is more common in males and about 6,000 to 10,000 people are diagnosed with it every year.



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