@article{fec1760c51ca4d03bd2edb21905920c2,
title = "Changing the perspective on early development of Rett syndrome",
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.",
keywords = "Milestones, Preserved speech variant, Regression, Rett syndrome, Speech-language development, Video analysis",
author = "Marschik, {Peter B.} and Kaufmann, {Walter E.} and Jeff Sigafoos and Thomas Wolin and Dajie Zhang and Bartl-Pokorny, {Katrin D.} and Giorgio Pini and Michele Zappella and Helen Tager-Flusberg and Christa Einspieler and Johnston, {Michael V.}",
note = "Funding Information: We are grateful to the participants{\textquoteright} parents and colleagues for sharing their audio-video archives; We thank A.M. Kerr for her groundbreaking thoughts on the early Rett phenotype, the members of the RettSearch consortium and all colleagues in the related fields for their constant input in discussing this topic, sharing their expertise from molecular to the clinical level that enabled these insights, the understanding of this phenomenon and some of its underlying mechanisms. Parts of the study supported by the Austrian Science Fund FWF P19581 & FWF P25241 . ",
year = "2013",
month = apr,
doi = "10.1016/j.ridd.2013.01.014",
language = "English (US)",
volume = "34",
pages = "1236--1239",
journal = "Research in Developmental Disabilities",
issn = "0891-4222",
publisher = "Elsevier Inc.",
number = "4",
}