Fragile X Syndrome Anah Khaja 2/27/13 Psychology Honors (1st Period)
Common Name and/or Scientific Name • Fragile X syndrome, Martin-Bell Syndrome, Marker X Syndrome
Cause of Fragile X Syndrome • It’s caused by a change in gene called FMR1. A small part of the gene code is repeated on a fragile area of the X chromosome. The more repeats, the more likely there is to be a problem.
Target Population for Fragile X Syndrome • Fragile X can affect 1 in 4000 males and 1 in 8000, but is more common in males.
Where and how Fragile X Syndrome affects the CNS/PNS • The FMR1gene makes a protein needed for your brain to grow properly. A defect in the gene makes your body produce too little of the gene or none at all.
Symptoms of Fragile X Syndrome • Behavior problems associated with fragile X syndrome include: • Delay in crawling, walking, or twisting • Hand clapping or hand biting • Hyperactive or impulsive behavior • Intellectual disability • Speech and language delay • Tendency to avoid eye contact
Prognosis of Fragile X Syndrome • Prognosis is how well the patient does depending on the amount of intellectual disability (mental retardation).
Cure and or Vaccine/Treatment Recommended for Fragile X Syndrome • There is no known cure, but there is an individualized treatment plan. There are medications such as antidepressants (used for anxiety and mood problems), stimulants (such as Ritalin) (used for hyperactivity and attention problems), antiseizure drugs (used for behavior and mood problems), and antipsychotics (used for aggression and mood problems).
Notable Case in Medical History about Fragile X Syndrome • Claes Wahlestedt researched non-coding RNA that is acknowledged to play an important role in many diseases such as Fragile X syndrome. • There was a case study in which scientists were researching if folic acid helps improve symptoms in people with fragile X syndrome and if it had any side effects. However, the results were that adverse effects of folic acid treatment were rare, not serious and transient.
Organizations/Medical Facilities that Specialize in treating this disorder • National Fragile X Foundation- Formed in 1984, they are committed to help families, spread awareness, find improved treatments, and support research leading to an eventual cure for all Fragile X-associated Disorders. • March of Dimes- Working together for stronger, healthier babies.
Work Cited Page • Fragile X Syndrome-PubMed Health. (2011, September 6). Retrieved February 27, 2013, from A.D.A.M Medical Encyclopedia website: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002633/ • Fragile X Syndrome | Baby | Birth Defects | March of Dimes . (2010, April). Retrieved February 27, 2013, from March of Dimes website: http://www.marchofdimes.com/baby/birthdefects_fragilex.html • "Folic acid for fragile X syndrome." Folic Acid for fragile X syndrome-PubMed Health-. The Cochrane Foundation, 11 May 2011. Web. 4 Mar. 2013. <http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0014816/>. • "Fragile X Syndrome." Fragile X Syndrome - National Fragile X Foundation. National Fragile X Foundation, Web. 4 Mar. 2013. <http://www.fragilex.org/fragile-x-associated-disorders/fragile-x-syndrome/>.