Doctor Gul Dolen describes the key characteristics of Fragile X syndrome, which can include problems with language, mental retardation, and symptoms of autism.

Fragile X Syndrome is a genetic disease. It usually affects males, little boys. It is present when the children are born. Usually parents notice that there is something wrong around age 1 or 2, and they go and see their doctor, and their doctor will probably be tracking the child for developmental milestones and the doctor may notice that the child has missed a couple of those milestones. So typically what happens is that the parents will get referred to a neurologist. Then, if the neurologist sees some of the typical symptoms will send off a genetic test and make the diagnosis of Fragile X. Then because it is a genetic disease and we don’t have a cure for it the child will be affected by the disease for their lifetime. Typically children with Fragile X live to normal ages; they have a long lifespan, but they are developmentally delayed. They have problems with language, mental retardation is pretty typical and it can range from severe to moderate mental retardation, and then they also have symptoms of autism usually.

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