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.
authors: Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, USA.
authors: Peter B
authors: PB
authors: Marschik
authors: Walter E
authors: WE
authors: Kaufmann
authors: Jeff
authors: J
authors: Sigafoos
authors: Thomas
authors: T
authors: Wolin
authors: Dajie
authors: D
authors: Zhang
authors: Katrin D
authors: KD
authors: Bartl-Pokorny
authors: Giorgio
authors: G
authors: Pini
authors: Michele
authors: M
authors: Zappella
authors: Helen
authors: H
authors: Tager-Flusberg
authors: Christa
authors: C
authors: Einspieler
authors: Michael V
authors: MV
authors: Johnston
mesh_terms: D002675:Child, Preschool; D018450:Disease Progression; D042241:Early Diagnosis; D005260:Female; D006801:Humans; D007223:Infant; D007804:Language Development; D007805:Language Development Disorders / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology*; D012189:Retrospective Studies; D015518:Rett Syndrome / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology*; D013997:Time Factors; D014741:Video Recording
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