Developmental profile of speech-language and communicative functions in an individual with the preserved speech variant of Rett syndrome

Dev Neurorehabil. 2014 Aug;17(4):284-90. doi: 10.3109/17518423.2013.783139. Epub 2013 Jul 19.

Abstract

Objective: We assessed various aspects of speech-language and communicative functions of an individual with the preserved speech variant of Rett syndrome (RTT) to describe her developmental profile over a period of 11 years.

Methods: For this study, we incorporated the following data resources and methods to assess speech-language and communicative functions during pre-, peri- and post-regressional development: retrospective video analyses, medical history data, parental checklists and diaries, standardized tests on vocabulary and grammar, spontaneous speech samples and picture stories to elicit narrative competences.

Results: Despite achieving speech-language milestones, atypical behaviours were present at all times. We observed a unique developmental speech-language trajectory (including the RTT typical regression) affecting all linguistic and socio-communicative sub-domains in the receptive as well as the expressive modality.

Conclusion: Future research should take into consideration a potentially considerable discordance between formal and functional language use by interpreting communicative acts on a more cautionary note.

Keywords: Communication; Rett syndrome; language; preserved speech variant; speech.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Communication Disorders / diagnosis*
  • Female
  • Humans
  • Language
  • Longitudinal Studies
  • Motor Skills
  • Nonverbal Communication
  • Regression, Psychology*
  • Rett Syndrome / diagnosis*
  • Rett Syndrome / physiopathology*
  • Social Behavior
  • Speech*
  • Video Recording
  • Vocabulary

Supplementary concepts

  • Rett Syndrome, Preserved Speech Variant