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Fragile X Syndrome

Fragile X syndrome is the most common inherited form of cognitive disability. It is a genetic condition caused by gene changes in the FMRI gene. Females tend to be affected less often than males and less severely.

Children and adults with Fragile X syndrome have varying degrees of cognitive disability and learning disabilities and behavioral and emotional issues. Young children often have developmental delays and may have more frequent tantrums and attention difficulties. They may appear to be highly anxious, easily overwhelmed by activity around them, have speech problems, and engage in behaviors such as hand flapping or hand biting. Tactile defensive responses (negative response to touch), preservative speech (continued repetition of words or phrases), and poor eye contact may be present. Physical features may include large or prominent ears, large testicles, double jointed, Simean crease (single horizontal crease on the palm instead of the usual 2 creases, or Sydney Line (a horizontal crease that goes from edge to edge across the palm). Fragile X syndrome is the most common known cause of autism or autism associated behaviors.

Most children with Fragile X syndrome do not have serious medical problems although about 20% develop seizures, which are generally controlled by medication.

Fragile X syndrome may be diagnosed by blood test. A blood sample is analyzed to determine if the gene variation is present. Most children with fragile X can benefit from individualized intervention plans that may involve speech therapists, physical and occupational therapists, special educators, psychologists and social workers, and pediatricians.

Sources:

http://www.fragilex.org/

http://www.marchofdimes.com/pnhec/4439_9266.asp