Rett syndrome is a rare genetic disorder that affects the way the brain develops. It occurs almost exclusively in girls.

Symptoms:

The essential feature of Rett’s syndrome is the development of multiple specific deficits following a period of normal functioning after birth. There is a loss of previously acquired purposeful hand skills before subsequent development of characteristic hand movement resembling hand wringing hand washing. Interest in the social environment diminishes in the first few years after the onset of the disorder. There is also significant impairment in expressive and receptive language development with severe psychomotor retardation.

Definitive Diagnosis:

A genetic test (DNA analysis) may be used to confirm a diagnosis of Rett syndrome. The test requires drawing a small amount of blood from a vein in your child's arm. The blood is then sent to a lab, where your child's DNA is examined for abnormalities that may give clues as to the cause and severity of your child's disorder.

If your child's doctor still suspects Rett syndrome after considering other possibilities, he or she will use specific guidelines for diagnosis.

 Evaluation:

Assessment of a child with Rett’s syndrome will rely on what are the main areas of concern for the family as related to speech, occupational or physical therapy. This may include options for communication, ways to help with independence as well as overall functional skills related to daily activities.

Treatment:

Use of specific ideas for improving communication, and overall function during treatment will be the focus of all therapy. This may include speech, occupational and physical therapy treatment sessions.

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