Rett syndrome is a childhood neurodevelopmental disorder that affects females almost exclusively. Loss of muscle tone is usually the first symptom. Other early symptoms may include 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.
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 also be required in some cases.
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.
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.
International Rett Syndrome Foundation 4600 Devitt Drive Cincinnati, OH 45246 admin@rettsyndrome.org http://www.rettsyndrome.org Tel: 513-874-3020 |
Easter Seals 233 South Wacker Drive Suite 2400 Chicago, IL 60606 info@easterseals.com http://www.easterseals.com Tel: 312-726-6200 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 http://www.nichd.nih.gov Tel: 301-496-5133 Fax: 301-496-7101 |
Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.
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Last updated June 06, 2008