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Fragile X Syndrome

                       

Fragile X syndrome is a genetic disorder caused by a change to one of the genes on the X chromosome. Fragile X syndrome affects a child's learning, behavior, appearance, and health.  Is the most common form of inherited developmental disability, is the most common cause of inherited mental retardation. The FMR1 gene is located on the X chromosome. This abnormal gene, which can be passed from generation to generation, is usually inherited through the gene that is carried by women.

Cause

Fragile X is caused by a mutation in the FMR1 gene that prevents the body from making an important protein, called FMRP. This protein helps create and maintain connections between brain cells and the nervous

Sign and Symptoms

  1. Long face, large prominent ears, flat feet
  2. Low muscle tone
  3. Trouble learning skills like sitting, crawling, or walking
  4. General or social anxiety
  5. Social issues, like not making eye contact with other people
  6. Hyperactivity and short attention spans
  7. Very flexible joints

Diagnosis

  • Amniocentesis: - Doctors check a sample of amniotic fluid for the FMR1 gene change.
  • Chronic villus sampling (CVS):-   sample of cells from the placenta to check for the FMR1 gene.

Treatment

  • Involve receiving extra help from teachers, therapists, family members, doctors, and coaches
  • Speech and language therapy
  • Occupational therapy to help with daily tasks
  • Behavior therapy
  • Medicines to prevent seizures

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