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Fragile X syndrome effects more males than females; and is caused by a chromosomal defect. One strand of the DNA chromosomes is not the length it should be, but rather it is MANY times greater than normal.
Fragile X syndrome causes learning disabilities, educational problems, attention difficulties, and entails some degree of mental retardation. The symptoms are similar to those of an autistic child; except the Fragile X child is described as being hyperactive, very social/loving, and able to perform in the classroom beyond what their diagnostic tests results would suggest. Children with this syndrome generally learn in wholes rather than parts; have a history of otitis media (ear aches associated with fluid in the ear); are flat-footed; and sometimes have a larger head and higher palate in the mouth than normal. However, those affected reportedly do not reverse pronouns ("I" for "you" - for example) like autistic persons do.
Fragile X syndrome can sometimes be suggested by these physical characteristics but a diagnosis could only be confirmed through a professional genetics counselor or geneticist . This person would ask you numerous questions regarding medical history for your child and his/her family (as many generations as the information is available for) to determine if they felt that your child was at risk for having this defect before actually performing any DNA testing. They can also tell you if what your child is experiencing is called Prader-Willi Syndrome or Angelman's Syndrome(which are just a different mutations on the same chromosome as Fragile X). This defect worsens with each generation (the deletion becomes larger exponentially), and is inherited; meaning that if you have one child with this problem, your chances of having another child with the same problems are greater than that of the general population. I highly encourage you to see a geneticist or genetics counselor in your area if you feel that this syndrome could be what is affecting your child. Also, speech/language therapy may be recommended as well as occupational therapy in order to help the individual with Fragile X to meet their full potential.
Fragile X Links
The ARC's Questions and Answers on Fragile X
Family Village's Disability-Related Resources
Fragile X Diagnostic & Testing Information
FRAXA Research Foundation - Fragile X
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