Fragile X Syndrome

The chromosomes on a normal person are 23 pairs and the sex chromosomes. For males it is XY for sex chromosomes and females is XX. If a person has Fragile X Syndrome the X chromosome has a little bend on the end of the chromosome. In order for someone to get Fragile X Syndrome, one of their parents must either be a carrier or have the disease. It is more likely in males because they only have one X and one chance. Females have 2 X’s so they are less likely to get Fragile X Syndrome. Impairment from Fragile X Syndrome can be learning disabilities or it can lead to autistic like behaviors. There can be severe cases and there are some cases that are not so severe. It usually affects males more often. It impairs memory, tremors, and balance. This genetic disorder and be passed on to offspring even if there isn’t a sign of it in both parents. Some families can have a first person to be diagnosed and others may have the genetic disorder already in their family. The most common cause of mental retardation is known as Fragile X Syndrome. The FXS is something that shuts down the gene that makes the brain function normally. That is why people that have fragile X Syndrome are mentally retarded. The exact definition of Fragile X Syndrome is, “the inherited presence of a mutated gene on the X chromosome, which results in production of too little of a particular protein in the body.

Some of the symptoms of Fragile X Syndrome in males is large ears, flexible joints, low muscle tone, broad forehead, flat feet and soft, fleshy skin. “In our sample of 75 parents of young

boys with fragile X syndrome, typically someone first becomes concerned about the child around 8-10 months of age. Typical concerns voiced are inability to cuddle, lack of regular routines,

fussiness or delayed attainment of developmental milestones (walking, talking). Sometimes these signs are subtle, and it may take a long time for a physician or other professional to acknowledge that a problem exists.” (Carolina Fragile X Project 1) There is also behavior problem that can affect a child with this syndrome. They usually have low attention span. That means that they can’t sit down a read a book without getting distracted. Most children have very little eye contact. When you try to get them to look at you they either look away or not try to at all. A lot of kids do not like to touch objects that feel funny to them such as a ball that is squishy They usually develop a little slower than normal children. It may take them more time to learn something but they still learn it. It may take them more time to learn something but they still learn it.

Fragile X Syndrome is the most common cause of autism (FRAXA 1). Autism is a developmental disability. There is no known cause but Fragile X Syndrome can have something to do with it. It is not 100 percent proven that it is the cause but there are studies that show that it can be a possible cause. There is only one way to find out if someone has fragile X Syndrome. You have to get a blood test so doctors can see if you have it or not. There may be some behaviors that can lead you to believe that someone has Fragile X Syndrome but you can not diagnosis it unless a blood test is taken. About 1 in 259 women carry fragile X and could pass it to their children. About 1 in 800 men carry fragile X; their daughters will also be carriers. (Crawford 1). Some people have normal sex chromosomes but people that have Fragile X Syndrome, they have a bend in their X chromosomes.

Just because one of your children had Fragile X Syndrome doesn’t mean that the rest of

your kids has to have it. There is a chance that you kid can have it if you are a carrier for the Disease. One of the most common questions asked is that do all people that have Fragile X

Syndrome have autism. The answer to that is no. Everyone who has Fragile X Syndrome doesn’t have to have autism. Some people do though. This syndrome can have just some cases of mental retardation and behaviors problems. Many people classify Fragile X Syndrome and Autism has the same thing. They are two very different things. Autism can be caused my Fragile X Syndrome but they are not the same thing.. There is no known cure but there are treatments that can help behavior and learning. There is About 1 in every 4,000 males that get Fragile X Syndrome and about 1 in every 8,000 females have Fragile X Syndrome.

There are many things out there that can help with Fragile S Syndrome.