shelby herstine, fillie landi, mike lebus. what is fragile x syndrome? fragile x syndrome is a...

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  • Slide 1
  • Shelby Herstine, Fillie Landi, Mike LeBus
  • Slide 2
  • What is Fragile X Syndrome? Fragile X syndrome is a disease that causes mental retardation and other physical and mental issues.
  • Slide 3
  • What causes Fragile X? Fragile X is caused by a change in the FMR1 gene on the X Chromosome. This inherited defect causes the production of little to none of the FMRP protein which helps your brain to grow.
  • Slide 4
  • How do you know when someone has Fragile X? The signs and symptoms are the same as most mental retardations. Behavioral Delay in crawling, walking, and twisting Hand clapping/biting Hyperactivity Speech and language delay Avoidance of eye contact Physical Flat feet Flexible joints Low muscle tone Large body size Large forehead Prominent jaw Long face Soft skin
  • Slide 5
  • How can Fragile X be diagnosed? Since 1991 there has been DNA testing that can be done before or after birth to see if the child carries the Fragile X gene. Though it is not possible to tell if the child will be effected and actually have Fragile X until the child begins to grow up.
  • Slide 6
  • What are cures or treatments for Fragile X? There is no cure for Fragile X and there is not one single treatment for the disease. There are however treatments for the symptoms of Fragile X to help minimize the conditions and try and have the child live a normal healthy life. Children with Fragile X will receive special education, and behavioral and physical therapy.
  • Slide 7
  • How long will someone with Fragile X live? Children with Fragile X syndrome will most likely live a normal lifespan. People cannot die from Fragile X itself although it may cause seizures, heart murmurs, and increases the risk for chrome inner ear infections.
  • Slide 8
  • Does Fragile X favor males or females? Fragile X is more commonly occurring in males. 1 in 3600 males will have this disease while only 1 in 4000-6000 females will. 15% of effected males will develop seizures while only 5% of effected females will.