Changing the perspective on early development of Rett syndrome

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

Research output: Contribution to journalArticlepeer-review

64 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1236-1239
Number of pages4
JournalResearch in Developmental Disabilities
Issue number4
StatePublished - Apr 2013
Externally publishedYes


  • Milestones
  • Preserved speech variant
  • Regression
  • Rett syndrome
  • Speech-language development
  • Video analysis

ASJC Scopus subject areas

  • Developmental and Educational Psychology
  • Clinical Psychology


Dive into the research topics of 'Changing the perspective on early development of Rett syndrome'. Together they form a unique fingerprint.

Cite this