What is Rett Syndrome?
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.
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 also 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
admin@rettsyndrome.org
www.rettsyndrome.org
Tel: 513.874.3020
Easter Seals
233 South Wacker Drive, Suite 2400
Chicago, IL 60606
info@easterseals.com
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
www.nichd.nih.gov
Tel: 301.496.5133
Fax: 301.496.7101
Source: National Institutes of Health; National Institute of
Neurological Disorders and Stroke
Can't find the health information you're looking for?
Ask a Health Educator, Live!
Know someone who could use this information?...send them this link.
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: 6/6/2008...#6089
