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Rett
Syndrome
Introduction
- 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)
Organizations
International Rett Syndrome Association (IRSA)
9121 Piscataway Road
Suite 2B
Clinton MD 20735
irsa@rettsyndrome.org
www.rettsyndrome.org
Tel: 301-856-3334 800-818-RETT (-7388)
Fax: 301-856-3336
NICHD/National Institute of Child Health and Human
Development, NIH
Bldg. 31, Rm. 2A32
Bethesda MD 20892-2425
NICHDdClearinghouse@mail.nih.gov
www.nichd.nih.gov
Tel: 301-496-5133
Rett Syndrome Research Foundation (RSRF)
4600 Devitt Drive
Cincinnati OH 45246
mail@rsrf.org
www.rsrf.org
Tel: 513-874-3020
Fax: 513-874-2520
This
information is available courtesy of the National Institute of Neurological
Disorders and Stroke. It is in the public domain and can be downloaded, reproduced,
or copied without permission. For more information go to
http://www.ninds.nih.gov/health_and_medical/disorder_index.htm
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