Rett Syndrome & Rett-Related Disorders
Rett syndrome is a neurodevelopmenal disorder that affects girls almost exclusively. It is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. Nearly all cases of Rett syndrome are caused by a mutation in the methyl CpG binding protein 2, or MECP2 gene. Doctors clinically diagnose Rett syndrome by observing signs and symptoms during a child's early growth and development, and by conducting ongoing evaluations of the child's physical and neurological status. Scientists have developed a genetic test to complement the clinical diagnosis, which involves searching for the MECP2 mutation on a child's X chromosome. Treatment for the disorder is symptomatic — focusing on the management of symptoms — and supportive, requiring a multidisciplinary approach.
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Jeffrey L. Neul, M.D., Ph.D.
Annette Schaffer Eskind Chair and Director, Vanderbilt Kennedy Center; Professor of Pediatrics, Division of Neurology, and Pharmacology
Colleen Niswender, Ph.D.
Research Associate Professor of Pharmacology; Director of Molecular Pharmacology, Vanderbilt Center for Neuroscience Drug Discovery
Sarika Peters, Ph.D.
Assistant Professor of Pediatrics and Psychiatry & Behavioral Sciences
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