title: Developmental profile of speech-language and communicative functions in an individual with the preserved speech variant of Rett syndrome.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Institute of Physiology (IN:spired; Developmental Physiology and Developmental Neuroscience), Center for Physiological Medicine, Medical University of Graz , Graz , Austria .
authors.forename: Peter B
authors.initials: PB
authors.lastname: Marschik
authors.forename: Ralf
authors.initials: R
authors.lastname: Vollmann
authors.forename: Katrin D
authors.initials: KD
authors.lastname: Bartl-Pokorny
authors.forename: Vanessa A
authors.initials: VA
authors.lastname: Green
authors.forename: Larah
authors.initials: L
authors.lastname: van der Meer
authors.forename: Thomas
authors.initials: T
authors.lastname: Wolin
authors.forename: Christa
authors.initials: C
authors.lastname: Einspieler
mesh_terms: D002648:Child; D003147:Communication Disorders / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007802:Language; D008137:Longitudinal Studies; D009048:Motor Skills; D009633:Nonverbal Communication; D012043:Regression, Psychology; D015518:Rett Syndrome / Q000175:diagnosis* / Q000503:physiopathology*; D012919:Social Behavior; D013060:Speech; D014741:Video Recording; D014825:Vocabulary
keywords: Communication; Rett syndrome; language; preserved speech variant; speech