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SHR Neuro Krebs Kardio Lipid Stoffw Microb

Marschik, PB; Kaufmann, WE; Sigafoos, J; Wolin, T; Zhang, D; Bartl-Pokorny, KD; Pini, G; Zappella, M; Tager-Flusberg, H; Einspieler, C; Johnston, MV.
Changing the perspective on early development of Rett syndrome.
Res Dev Disabil. 2013; 34(4):1236-1239 Doi: 10.1016/j.ridd.2013.01.014 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG


Führende Autor*innen der Med Uni Graz
Marschik Peter
Co-Autor*innen der Med Uni Graz
Bartl-Pokorny Katrin Daniela
Einspieler Christa
Marschik Dajie
Wolin Thomas

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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.
Find related publications in this database (using NLM MeSH Indexing)
Child, Preschool -
Disease Progression -
Early Diagnosis -
Female -
Humans -
Infant -
Language Development -
Language Development Disorders - diagnosis Language Development Disorders - etiology Language Development Disorders - physiopathology
Retrospective Studies -
Rett Syndrome - complications Rett Syndrome - diagnosis Rett Syndrome - physiopathology
Time Factors -
Video Recording -

Find related publications in this database (Keywords)
Rett syndrome
Preserved speech variant
Speech-language development
Video analysis
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