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. 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. 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. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&term=rett+syndrome+AND+human[mh]+AND+english[la]&db=PubMed&orig_db=PubMed&filters=on&pmfilter_EDatLimit=5+Years 1 http://clinicaltrials.gov/ct2/results?term= /disorders/rett/pubs_rett.htm /disorders/rett/xml_rett.xml xml_rett.xml V202 International Rett Syndrome Foundation

4600 Devitt Drive

Cincinnati OH 45246 admin@rettsyndrome.org http://www.rettsyndrome.org 513-874-3020 The core mission of the IRSF is to fund research for treatments and a cure for Rett syndrome while enhancing the overall quality of life for those living with Rett syndrome by providing information, programs, and services. V105 Easter Seals

233 South Wacker Drive

Suite 2400 Chicago IL 60606 info@easterseals.com http://www.easterseals.com 312-726-6200 800-221-6827 312-726-1494 Provides services to help children and adults with disabilities and/or special needs as well as support to their families. Supports the National AgrAbility Project, a program for farmers, ranchers, and farm workers with disabilities. V633 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 301-496-5133 301-496-7101 V658 National Institute of Mental Health (NIMH)

National Institutes of Health, DHHS

6001 Executive Blvd. Rm. 8184, MSC 9663 Bethesda MD 20892-9663 nimhinfo@nih.gov http://www.nimh.nih.gov 301-443-4513/866-415-8051 301-443-8431 (TTY) 301-443-4279 V640 Office of Rare Diseases

National Institutes of Health, DHHS

6100 Executive Blvd., 3B01, MSC 7518 Bethesda MD 20892-7518 http://rarediseases.info.nih.gov 301-402-4336 V880 Rett Syndrome Research Trust

67 Under Cliff Road

Trumbull CT 06611 monica@rsrt.org http://www.rsrt.org 203-445-0041