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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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
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author 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.
author_facet 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.
author_sort Marschik, Peter B.
collection PubMed
description 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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spelling pubmed-36055802013-04-01 Changing the perspective on early development of Rett syndrome 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. Res Dev Disabil Article 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. Pergamon Press 2013-04 /pmc/articles/PMC3605580/ /pubmed/23400005 http://dx.doi.org/10.1016/j.ridd.2013.01.014 Text en © 2013 Elsevier Ltd. https://creativecommons.org/licenses/by-nc-nd/3.0/ Open Access under CC BY-NC-ND 3.0 (https://creativecommons.org/licenses/by-nc-nd/3.0/) license
spellingShingle Article
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.
Changing the perspective on early development of Rett syndrome
title Changing the perspective on early development of Rett syndrome
title_full Changing the perspective on early development of Rett syndrome
title_fullStr Changing the perspective on early development of Rett syndrome
title_full_unstemmed Changing the perspective on early development of Rett syndrome
title_short Changing the perspective on early development of Rett syndrome
title_sort changing the perspective on early development of rett syndrome
topic Article
url 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
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