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Rett Syndrome

What is Rett Syndrome?

Rett syndrome is a childhood neurodevelopmental disorder that affects females almost exclusively. The child generally appears to grow and develop normally, before symptoms begin. Loss of muscle tone is usually the first symptom. Other early symptoms may include a slowing of development, problems crawling or walking, and diminished eye contact. As the syndrome progresses, a child will lose purposeful use of her hands and the ability to speak. Compulsive hand movements such as wringing and washing follow the loss of functional use of the hands. The inability to perform motor functions is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze and speech.

Is there any treatment?

There is no cure for Rett syndrome. Treatment for the disorder is symptomatic, focusing on the management of symptoms, and supportive. Medication may be needed for breathing irregularities and motor difficulties, and antiepileptic drugs may be used to control seizures. Occupational therapy, physiotherapy, and hydrotherapy may prolong mobility. Some children may require special equipment and aids such as braces to arrest scoliosis, splints to modify hand movements, and nutritional programs to help them maintain adequate weight. Special academic, social, vocational, and support services may be required in some cases.

What is the prognosis?

The course of Rett syndrome, including the age of onset and the severity of symptoms, varies from child to child. Despite the difficulties with symptoms, most individuals with Rett syndrome continue to live well into middle age and beyond. Because the disorder is rare, very little is known about long-term prognosis and life expectancy.

What research is being done?

The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to Rett syndrome in laboratories at the NIH, and also support additional Rett syndrome research through grants to major medical institutions across the country. The discovery of the Rett syndrome gene in 1999 provides a basis for further genetic studies. Understanding the cause of this disorder is necessary for developing new therapies to manage specific symptoms, as well as for providing better methods of diagnosis.

Organizations

International Rett Syndrome Foundation
4600 Devitt Drive
Cincinnati, OH  45246
Phone: 513.874.3020

Easter Seals
233 South Wacker Drive
Suite 2400
Chicago, IL  60606
Phone: 312.726.6200
Toll-free: 800.221.6827
Fax: 312.726.1494

National Institute of Child Health and Human Development (NICHD)
National Institutes of Health, DHHS
31 Center Drive, Rm. 2A32 MSC 2425
Bethesda, MD   20892-2425
Phone: 301.496.5133
Fax: 301.496.7101

National Institute of Mental Health (NIMH)
National Institutes of Health, DHHS
6001 Executive Blvd. Rm. 8184, MSC 9663
Bethesda, MD   20892-9663
Phone: 301.443.4513
Toll-free: 866.415.8051
TTY: 301.443.8431
Fax: 301.443.4279

Office of Rare Diseases
National Institutes of Health, DHHS
6100 Executive Blvd., 3B01, MSC 7518
Bethesda, MD   20892-7518
Phone: 301.402.4336

Rett Syndrome Research Trust
67 Under Cliff Road
Trumbull, CT   06611
Phone: 203.445.0041

Source: National Institutes of Health; National Institute of Neurological Disorders and Stroke

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This information is provided by the Cleveland Clinic and is not intended to replace the medical advice of your doctor or health care provider. Please consult your health care provider for advice about a specific medical condition. This document was last reviewed on: 8/16/2011...#6089


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