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Journal of Child Neurology
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Rett Syndrome: Pathogenesis, Diagnosis, Strategies, Therapies, and Future Research Directions

Kathleen M. Deidrick, PhD

Department of Health Psychology University of Missouri-Columbia, Columbia, MO

Alan K. Percy, MD

Civitan International Research Center University of Alabama at Birmingham, Birmingham, AL

N. Carolyn Schanen, MD, PhD

Nemours Biomedical Research Alfred I. duPont Hospital for Children, Wilmington, DE

Laura Mamounas, PhD

National Institute of Neurological Disorders and Stroke Bethesda, MD

Bernard L. Maria, MD

Charles P. Darby Children's Research Institute Medical University of South Carolina, Charleston, SC, mariabl{at}musc.edu

Rett syndrome is a progressive neurodevelopmental disorder characterized by cognitive impairment, deficits in communication, stereotypic movements, and growth failure. On October 13, 2004, we held a symposium to determine how research findings enhance clinical practice for practitioners working with persons who have Rett syndrome and to identify the research needed to improve diagnostic accuracy and develop safe, effective therapies. Participants described diagnostic strategies, pathogenesis, therapies, and clinical trials and defined future research directions. This article summarizes their presentations and includes the verbatim edited transcript of question-and-answer sessions.

Journal of Child Neurology, Vol. 20, No. 8, 708-717 (2005)
DOI: 10.1177/08830738050200081701
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