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. 2013 Apr;34(4):1236-9.
doi: 10.1016/j.ridd.2013.01.014. Epub 2013 Feb 9.

Changing the perspective on early development of Rett syndrome

Peter B Marschik  1 , 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
Affiliations

Changing the perspective on early development of Rett syndrome

Peter B Marschik et al. Res Dev Disabil. 2013 Apr.

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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Figures

Fig. 1
Fig. 1
Step by step: Trajectories of reaching developmental speech-language milestones in typical RTT (n = 10) or PSV (n = 5) during the first two years of life.
See this image and copyright information in PMC

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