NINDS Rett Syndrome Information Page: NINDS


Article title: NINDS Rett Syndrome Information Page: NINDS
Main condition: Rett Syndrome
Conditions: Rett Syndrome
What is Rett Syndrome?
Rett syndrome is a progressive neurological disorder in which individuals exhibit reduced muscle tone, autistic-like behavior, hand movements consisting mainly of wringing and waving, loss of purposeful use of the hands, diminished ability to express feelings, avoidance of eye contact, a lag in brain and head growth, gait abnormalities, and seizures. Hypotonia (loss of muscle tone) is usually the first symptom. The syndrome affects approximately 1 in every 10,000-15,000 live female births, with symptoms usually appearing in early childhood between ages 6 and 18 months. The cause of Rett syndrome is unknown.

Is there any treatment?
There is no cure for Rett syndrome; however, there are several treatments options. These include treatments for the orthopedic and learning disabilities and seizures that may occur in individuals with Rett syndrome. Some children may require special nutritional programs to maintain adequate weight.

What is the prognosis?
In spite of the severe impairments that characterize this disorder, the majority of individuals with Rett can be expected to reach adulthood, surviving at least into their 40s. However, the risk of death is increased. Sudden, unexplained death possibly from brainstem dysfunction with respiratory arrest often occurs.

What research is being done?
Basic research on Rett syndrome includes studies in the areas of neuropathology, neurochemistry, neuroimaging, nutrition, and genetics. The National Institute of Child Health and Human Development (NICHD) funds research on Rett syndrome.

Selected references

Haas, RH.
The History and Challenge of Rett Syndrome Journal of Child Neurology, 3; S3-S5 (1988)

Hagberg, BA. (Review Article)
Rett Syndrome: Clinical Peculiarities, Diagnostic Approach, and Possible Cause Pediatric Neurology, 5:2; 75-83 (1989)

Percy, AK.
Research in Rett Syndrome: Past, Present, and Future Journal of Child Neurology, 3:S72-75 (1988) Neuropediatrics, 26:2:57-128 (1995). (entire issue)

The Rett Syndrome Diagnostic Criteria Work Group.
Diagnostic Criteria for Rett Syndrome Annals of Neurology, 23:4; 425-428 (1988)


International Rett Syndrome Association (IRSA)
9121 Piscataway Road
Suite 2B
Clinton, MD 20735
Tel: 301-856-3334 800-818-RETT (7388)
Fax: 301-856-3336

National Institute of Child Health and Human Development (NICHD)
National Institutes of Health
Bldg. 31, Rm. 2A32
Bethesda, MD 20892-2425
Tel: 301-496-5133 800-370-2943

Rett Syndrome Research Foundation (RSRF)
4600 Devitt Drive
Cincinnati, OH 45246
Tel: 513-874-3020
Fax: 513-874-2520

Related NINDS Publications and Information

  • Rett Syndrome Fact Sheet
    Rett Syndrome fact sheet prepared by the National Institute of Neurological Disorders and Stroke (NINDS).

    This fact sheet is in the public domain. You may copy it.Provided by:
    The National Institute of Neurological Disorders and Stroke
    National Institutes of Health
    Bethesda, MD 20892

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