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Changing the perspective on early development of Rett syndrome.
|Title||Changing the perspective on early development of Rett syndrome.|
|Publication Type||Journal Article|
|Year of Publication||2013|
|Authors||Marschik PB, Kaufmann WE, Sigafoos J, Wolin T, Zhang D, Bartl-Pokorny KD, Pini G, Zappella M, Tager-Flusberg H, Einspieler C, Johnston MV|
|Journal||Research in developmental disabilities|
|Date Published||2013 Apr|
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.
|Alternate Journal||Res Dev Disabil|