Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome

Peter B. Marschik, Walter E. Kaufmann, Christa Einspieler, Katrin D. Bartl-Pokorny, Thomas Wolin, Giorgio Pini, Dejan B. Budimirovic, Michele Zappella, Jeff Sigafoos

Research output: Contribution to journalArticlepeer-review

22 Scopus citations


Rett syndrome (RTT) is a developmental disorder characterized by regression of purposeful hand skills and spoken language, although some affected children retain some ability to speech. We assessed the communicative abilities of five young girls, who were later diagnosed with the preserved speech variant of RTT, during the pre-regression period (aged 12-24 months). Videotapes, obtained by parents during routine family situations and celebrations, were analyzed to identify communicative forms and functions used by these toddlers. Non-verbal communicative forms dominated over verbal-communicative forms for six of the eight identified communication functions. Although the girls used various non-verbal forms to make requests, for example, none of the individuals were observed to make choices or request information. Early peculiarities in the speech-language domain during the first year of life became more prominent and evident during the second year of life as general differences between typical development and atypical development become more obvious in RTT. These findings highlight the importance of assessing socio-communicative forms and functions at early age in children with RTT. The results suggest that speech-language functions did not appear to play a major role in the children's communicative attempts. We conclude that, even among children with the preserved speech variant, socio-communicative deficits are present before regression and persist after this period.

Original languageEnglish (US)
Pages (from-to)1749-1756
Number of pages8
JournalResearch in Developmental Disabilities
Issue number6
StatePublished - Nov 2012


  • Communicative forms and functions
  • Preserved speech
  • Rett syndrome
  • Speech-language development
  • Video analysis

ASJC Scopus subject areas

  • Developmental and Educational Psychology
  • Clinical Psychology


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