1. Presentation on Fragile X syndrome

2. Fragile X syndrome Definition:
Fragile X syndrome is the most common inherited form of mental retardation. It results from a change, or mutation, in a single gene, which can be passed from one generation to the next. Fragile X appears in families of every ethnic group and income level.

3. Causes, incidence, and risk factors:
Fragile X syndrome is caused by a change in a gene called FMR1. A small part of the gene code is repeated on a fragile area of the X chromosome.
The FMR1 gene makes a protein needed for brain to grow properly. A defect in the gene makes body produce too little of the protein, or none at all.
Boys and girls can both be affected, but because boys have only one X chromosome, a single fragile X is likely to affect them more severely.
A family history of fragile X syndrome, developmental problems, or intellectual disability may not be present.

4. Signs and symptoms
Behavior problems associated with fragile X syndrome include:
Delay in crawling, walking, or twisting
Hand clapping or hand biting
Impulsive behavior
Mental retardation
Speech and language delay
Tendency to avoid eye contact
Physical signs may include:
Flat feet
Flexible joints and low muscle tone
Large body size
Long face
Soft skin

5. Treatment
There is no specific treatment for Fragile X syndrome. Instead, training and education have been developed to help affected children function at as high a level as possible.

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