Changing the perspective on early development of Rett syndrome

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 f...

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Detalles Bibliográficos
Autores principales: Marschik, Peter B., Kaufmann, Walter E., Sigafoos, Jeff, Wolin, Thomas, Zhang, Dajie, Bartl-Pokorny, Katrin D., Pini, Giorgio, Zappella, Michele, Tager-Flusberg, Helen, Einspieler, Christa, Johnston, Michael V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pergamon Press 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3605580/
https://www.ncbi.nlm.nih.gov/pubmed/23400005
http://dx.doi.org/10.1016/j.ridd.2013.01.014
Descripción
Sumario: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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