Fragile X Syndrome

By: Emily Corriher

Are you experiencing...?

  • Learning and Behavior Problems- The learning problems can range from trouble in the classroom or to more of a severe development disability. People with fragile x could have behavior problems with being anxious, trouble making eye contact with people, difficulty paying attention and some girls with fragile x may be shy around people.
  • Intellectual Disabilities- The syndrome effects your ability to think, reason and learn
  • Physical Problems- Most younger children with fragile x don't present physical problems. When the child hits puberty they develop more learning and behavior problems.

How does this happen?

Fragile X Syndrome occurs on the X chromosome when individual's with over 200 CGG repeats have a full mutation of the FMR1 gene, causing Fragile X Syndrome. The full mutation causes the FMR1 gene to shut down in one place. The FMR1 gene makes an important protein called FMRP. The FMRP protein codes for Fragile X Mental Retardation Protein.

What does Fragile X look like?

People with Fragile X may have:

  • Long narrow face, prominent ears, hyperextensive finger joints, flat feet, double jointed thumb, enlarged testicels.
  • Large head compared to the body.
  • Problems with sensation, emotion and behavior.
  • Mental retardation, difficultly thinking and speech development.

How is Fragile X treated?

There is no cure for Fragike X, however there are many medications to help with the behavior problems. Extra help for the speech and language problems at school could benefit the person who suffers from the condition.
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