Rett Syndrome

Rett syndrome is a pervasive developmental disorder (or autism spectrum disorder) that primarily affects females. It symptoms begin after a period of normal development that lasts between 6 and 18 months, after which the little girl's mental and social development regresses. Scientists have discovered that a mutation in the sequence of a single gene can cause Rett syndrome. This discovery may also lead to methods of screening for the disorder.

 

Rett Syndrome: An Overview

Rett syndrome is a relatively rare condition that almost exclusively affects females. It occurs in one out of every 10,000 to 15,000 people.
 
Rett syndrome is part of a category of disorders known as pervasive developmental disorders (PDD), which are more commonly known as autism spectrum disorders. All of these disorders are characterized by varying degrees of:
 
  • Impairment in communication skills and social interactions
  • Restricted, repetitive, and stereotyped patterns of behavior.

 

Symptoms of Rett Syndrome

People who develop Rett syndrome initially go through a period of normal development that lasts between 6 and 18 months. After that, autism-like symptoms begin to appear. The little girl's mental and social development regresses -- she no longer responds to her parents and pulls away from any social contact. If she has been talking, she stops; she cannot control her feet; she wrings her hands. Some of the problems associated with Rett syndrome can be treated. Physical, occupational, and speech therapy can help with problems of coordination, movement, and speech.
 

Causes of Rett Syndrome

Scientists have discovered that a mutation in the sequence of a single gene can cause Rett syndrome. This discovery may help doctors slow or stop the progression of the syndrome. It may also lead to methods of screening for Rett syndrome. This would enable doctors to treat -- and thus improve the quality of life of -- these children much sooner.
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Written by/reviewed by: Arthur Schoenstadt, MD
Last reviewed by: Arthur Schoenstadt, MD