Fragile+X

toc      = **Fragile X Syndrome (FXS)** =

FXS: What is it?
  Fragile X Syndrome is a genetic disorder caused by the mutation of a gene on the X chromosome.Fragile X Syndrome is the most commonly known cause for intellectual disabilities also known as mental retardation and autism. 1 in 4000 males and 1 in 7000 females have the disorder, although females often have milder symptomes. Fragile X syndrome is also a main cause of ADHD. Symptomes can range from mild to severe.(1) The average life span of an individual with the Fragile X disorder can vary greatly, but the most common lifespan is 60 years old.(3)

What causes Fragile X? [[image:CPK-stone.jpg width="71" height="97"]] [[image:fmr1.jpeg width="273" height="122"]]
Fragile X Syndrome is caused by the mutation of a gene on the X chromosome.The mutation is that there is a CGG triplet-repeat expansion mutation in the //FMR1 // gen e. he gene on the X chromosome that causes FXS is called the Fragile X Mental Retardation 1 gene (FRM1) for short.(1) The FRM1 gene creates a protein called Fragile X Mental Retardation Protein (FRMP). In Fragile X Syndrome the FRMP is not made.(2) The symptom's severity differs according to the number of repeats.

S ymptoms of the FXS disorder
The symptoms of Fragile X may include Attention-Deficit/Hyperactivity Disorde r (ADHD), Autism Spectrum Disorder (ASD), learning disabilities, speech and language delays, and distinct features such as large head with a long face, prominent ears, chin and forehead. Signs that a child may have FXS include not sitting, walking or talking as early as other children, or other developmental delays.(3)

Helping kids with Fragile X
Today there are many organizations. One organization is The Fragile X Research Foundation. Their mission is to accelerate progress toward effective treatments and a cure for Fragile X. They have raised $15 million in research(4). Another organization today that helps Fragile X is the National Fragile X Foundation. The National Fragile X Foundation helps familys who have a kid(s) with Fragile X Syndrome. They help the kids in the family who have Fragile X by giving them education about the disorder, and by telling them what they can do to prevent it from happening in future generations.(5)

Kids With Fragile X
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This video shows various children with Fragile X. Notice how many Children differ from each other.

A Family With A Son Who Has Fragile X
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This video shows you what a family goes through when a child has Fragile X and it also gives a general idea of what Fragile X is and what it does.

Fragile X Inheritance
Fragile X is transmitted form parent to child through the genetic information that is in the sperm and the eggs. Fragile X can not be caused by a single change in the base. Fragile X happens when there is a multiplication of part of the genetic mutation. The most frequent way of Fragile X occurring is when the FMR1 gene is missing.(6) MotherFather

fxs: no fxs: 0:1 fxs:no fxs = 1:0  fxs:no fxs = 1:1  The gene for Fragile X is carried on the X chromosome, so if the father has the allele, then it doesn't matter, but if the mother has the allele, then it does matter, because the mother is the one donating the X chromosome.
 * < The Father has mild FXS || FRM1 || FRM1 ||
 * No FRM1 ||= FRM1 || FRM1 ||
 * No FRM1 || FRM1 || FRM1 ||
 * Mother has complete FXS || No FRM1 || No FRM1 ||
 * FRM1 || FXS || FXS ||
 * FRM1 || FXS || FXS ||
 * Both Parents have mild FXS || FRM1 || No FRM1 ||
 * FRM1 || FRM1 || FXS ||
 * No FRM1 || FRM1 || FXS ||

Diagnostics
FXS is diagnosed by first spotting the obvious symptoms, and then by looking at a pedigree, but those ways can always be wrong. The only way to be absolutely sure is to see a karyotype of the child's DNA.

Treatment
Fragile X Syndrome cannot be cured, so the best way to prevent it is to learn about it and know if you or your offspring are at risk for FXS. Another helping fact is that d     rugs may be used to treat hyperactivity, seizures, and other problems. Folic Acid     has been found to improve hyperactivity and attention deficits in some pre-adolescent males with Fragile X Syndrome. (3)