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Changing the perspective on early development of Rett syndrome
Authors:Peter B Marschik  Walter E Kaufmann  Jeff Sigafoos  Thomas Wolin  Dajie Zhang  Katrin D Bartl-Pokorny  Giorgio Pini  Michele Zappella  Helen Tager-Flusberg  Christa Einspieler  Michael V Johnston
Institution:1. Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, USA;2. Institute of Physiology, Center for Physiological Medicine, Medical University of Graz, Graz, Austria;3. Department of Neurology, Boston Children''s Hospital and Harvard Medical School, Boston, USA;4. Department of Educational Psychology, Victoria University of Wellington, Wellington, New Zealand;5. Department of Psychology, Karl-Franzens University of Graz, Graz, Austria;6. Tuscany Rett Centre Versilia Hospital, Lido di Camaiore, Italy;7. Department of Psychology, Boston University, Boston, USA;8. Department of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Kennedy Krieger Institute, Baltimore, USA
Abstract:We delineated the achievement of early speech-language milestones in 15 young children with Rett syndrome (MECP2 positive) in the first two years of life using retrospective video analysis. By contrast to the commonly accepted concept that these children are normal in the pre-regression period, we found markedly atypical development of speech-language capacities, suggesting a paradigm shift in the pathogenesis of Rett syndrome and a possible approach to its early detection.
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