Shelby Herstine, Fillie Landi, Mike LeBus

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Presentation transcript:

Shelby Herstine, Fillie Landi, Mike LeBus Fragile X Syndrome Shelby Herstine, Fillie Landi, Mike LeBus

What is Fragile X Syndrome? Fragile X syndrome is a disease that causes mental retardation and other physical and mental issues.

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.

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

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.

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.

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.

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.