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TheScientificWorldJOURNAL
Volume 10 (2010), Pages 778-787
doi:10.1100/tsw.2010.79
Aging in Persons with Rett Syndrome: An Updated Review
1Department of Physical Therapy, Ariel University Center of Samaria, Ariel, Israel
2Israeli Rett Syndrome Association, National Evaluation Team, National Rett Syndrome Clinic Chaim Sheba Medical Center, Ramat-Gan, Israel
3National Institute of Child Health and Human Development, Office of the Medical Director, Division for Mental Retardation, Ministry of Social Affairs, Jerusalem, Israel
4Kentucky Children's Hospital, University of Kentucky, Lexington, KY, USA
5Department of Family Medicine, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer-Sheva, Israel
Received 20 February 2009; Revised 10 April 2010; Accepted 12 April 2010
Academic Editor: Hatim A. Omar
Copyright © 2010 Meir Lotan et al.
Abstract
Rett syndrome (RS) is a neurological disease affecting mainly females, characterized by an arrest of brain development caused by an X-linked mutation. Rett syndrome is the first human disease found to be caused by defects in a protein involved in regulating gene expression through its interaction with methylated DNA. The disease has been traced to a defective gene called MECP2. The case stories presented here and recent findings show that females with RS are able to live into old age. Due to the observed longevity of individuals with RS, and the fact that individuals with RS present the therapist/physician with specific clinical challenges, it is suggested that proper, long-term, and individually tailored, intensive care should be provided at all ages in the hope to prevent or at least reduce the age-related deterioration that is typical of this population.