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Rett Syndrome

How Is Rett Syndrome Diagnosed?

A diagnosis of Rett syndrome is based on a girl's pattern of symptoms and behavior. The diagnosis can be made on these observations alone. Discussions between a doctor and a girl's parents will help determine important details, such as when symptoms started.

Genetic testing can help confirm the diagnosis in 80% of girls with suspected Rett syndrome. It's possible that genetic testing can help predict severity.

Treatments for Rett Syndrome

There are treatments available for Rett syndrome that focus on helping a girl live the best life she can with the condition. Physical therapy can help improve mobility; speech therapy may help somewhat with language problems; and occupational therapy helps girls perform daily activities -- like bathing and dressing -- independently.

Experts believe that therapy can help girls with Rett syndrome and their parents. Although a "normal" life may not be possible, some improvement can be expected with therapy. Participating in activities -- including school -- and improved social interaction are sometimes possible.

Medicines can treat some of the problems with movement in Rett syndrome. Medication can also help control seizures. Unfortunately, there is no cure for Rett syndrome.

What to Expect With Rett Syndrome

Many girls with Rett syndrome can be expected to live at least into middle age. Researchers are still following women with the disease, which was only widely recognized in the past 20 years.

Symptoms of Rett syndrome don't usually improve over time. It is a lifelong condition. Often, there is a very slow worsening of symptoms, or symptoms remain stable. Girls and women with Rett syndrome will rarely be able to live independently.

WebMD Medical Reference

Reviewed by Smitha Bhandari, MD on December 07, 2014
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