Changing the perspective on early development of Rett syndrome.

Mark McIntosh,'s picture
PubMed URL: 
http://www.ncbi.nlm.nih.gov/pubmed/23400005
Author: 
Johnston MV
Author List: 
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: 
Res Dev Disabil
PubMed ID: 
23400005
Pagination: 
1236-9
Volume: 
34
Issue: 
4
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.
Published Date: 
April, 2013

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