Work

Changing the perspective on early development of Rett syndrome

Year: 2013

Type: article

Study design: Observational Study

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.

Source: Research in Developmental Disabilities

DOI: 10.1016/j.ridd.2013.01.014

Authors: Peter B. Marschik, 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

Institutions: Kennedy Krieger Institute, Johns Hopkins University, Medical University of Graz, Johns Hopkins Medicine, Boston Children's Hospital, Harvard University, Victoria University of Wellington, University of Graz, Ospedale Versilia, Boston University

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $4,040

Funders: Austrian Science Fund, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Award: Intellectual and Developmental Disablities Research Center

OpenAlex ID: W2098810164

FWCI: 8.603

Cites: 26

Cited by: 96

Related to: 10