Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
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
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- 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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- 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.
- 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
- Milestones
- Video analysis
- Regression