Center for Genetic Disorders of Cognition and Behavior

(Baltimore, MD) - An international collaboration of scientists has completed the first comprehensive analysis on the clinical effects of the genetic mutations involved in Rett Syndrome, a severe childhood neurological disorder on the autism spectrum caused by mutations in the gene MECP2. The current study, published in the March edition of Neurology, confirms and expands researchers' understanding of the distinctive clinical presentation of specific mutations in Rett syndrome.