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Elsevier, Research in Developmental Disabilities, 4(34), p. 1236-1239, 2013

DOI: 10.1016/j.ridd.2013.01.014

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Changing the perspective on early development of Rett syndrome

Journal article published in 2013 by Peter B. Marschik, Walter E. Kaufmann, Jeff Sigafoos, Thomas Wolin, Dajie Zhang ORCID, Katrin D. Bartl-Pokorny, Giorgio Pini, Michele Zappella, Helen Tager-Flusberg, Christa Einspieler, Michael V. Johnston
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This paper is available in a repository.

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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.