Transcript 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
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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-associateddisorders/fragile-x-syndrome/>.
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