Literature DB >> 23870013

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

Peter B Marschik1, Ralf Vollmann, Katrin D Bartl-Pokorny, Vanessa A Green, Larah van der Meer, Thomas Wolin, Christa Einspieler.   

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.

Entities:  

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

Mesh:

Year:  2013        PMID: 23870013      PMCID: PMC5951270          DOI: 10.3109/17518423.2013.783139

Source DB:  PubMed          Journal:  Dev Neurorehabil        ISSN: 1751-8423            Impact factor:   2.308


  38 in total

1.  Clinical variability in early speech-language development in females with Rett syndrome.

Authors:  Sarojini Budden
Journal:  Dev Med Child Neurol       Date:  2012-05       Impact factor: 5.449

2.  Is the early development of girls with Rett disorder really normal?

Authors:  Christa Einspieler; Alison M Kerr; Heinz F R Prechtl
Journal:  Pediatr Res       Date:  2005-02-17       Impact factor: 3.756

3.  'Relabelling the preserved speech variant of Rett syndrome?'.

Authors:  Peter B Marschik; Christa Einspieler; Heinz F R Prechtl; Andreas Oberle; Franco Laccone
Journal:  Dev Med Child Neurol       Date:  2009-12-04       Impact factor: 5.449

4.  Events at early development: are they associated with early word production and neurodevelopmental abilities at the preschool age?

Authors:  Peter B Marschik; Christa Einspieler; Bettina Garzarolli; Heinz F R Prechtl
Journal:  Early Hum Dev       Date:  2006-07-28       Impact factor: 2.079

5.  Communication in Individuals with Rett Syndrome: an Assessment of Forms and Functions.

Authors:  Robert Didden; Hubert Korzilius; Eric Smeets; Vanessa A Green; Russell Lang; Giulio E Lancioni; Leopold M Curfs
Journal:  J Dev Phys Disabil       Date:  2009-11-10

6.  Regression in individuals with Rett syndrome.

Authors:  Tony Charman; Hilary Cass; Lucy Owen; Tony Wigram; Vicky Slonims; Lyn Weeks; Alison Wisbeach; Sheena Reilly
Journal:  Brain Dev       Date:  2002-08       Impact factor: 1.961

7.  Findings from a multidisciplinary clinical case series of females with Rett syndrome.

Authors:  Hilary Cass; Sheena Reilly; Lucy Owen; Alison Wisbeach; Lyn Weekes; Vicky Slonims; Tony Wigram; Tony Charman
Journal:  Dev Med Child Neurol       Date:  2003-05       Impact factor: 5.449

8.  Early clinical signs in the Rett disorder.

Authors:  A M Kerr
Journal:  Neuropediatrics       Date:  1995-04       Impact factor: 1.947

9.  Early behavioural manifestation of Smith-Magenis syndrome (del 17p11.2) in a 4-month-old boy.

Authors:  Christa Einspieler; Hiroyo Hirota; Mariko Yuge; Sunao Dejima; Peter B Marschik
Journal:  Dev Neurorehabil       Date:  2012-06-22       Impact factor: 2.308

10.  Changing the perspective on early development of Rett syndrome.

Authors:  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
Journal:  Res Dev Disabil       Date:  2013-02-09
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  7 in total

1.  Early Vocal Development in Autism Spectrum Disorder, Rett Syndrome, and Fragile X Syndrome: Insights from Studies using Retrospective Video Analysis.

Authors:  Laura Roche; Dajie Zhang; Katrin D Bartl-Pokorny; Florian B Pokorny; Björn W Schuller; Gianluca Esposito; Sven Bölte; Herbert Roeyers; Luise Poustka; Markus Gugatschka; Hannah Waddington; Ralf Vollmann; Christa Einspieler; Peter B Marschik
Journal:  Adv Neurodev Disord       Date:  2018-01-11

2.  Early development in Rett syndrome - the benefits and difficulties of a birth cohort approach.

Authors:  Peter B Marschik; Sanne Lemcke; Christa Einspieler; Dajie Zhang; Sven Bölte; Gillian S Townend; Marlene B Lauritsen
Journal:  Dev Neurorehabil       Date:  2017-05-23       Impact factor: 2.308

Review 3.  Canonical Babbling: A Marker for Earlier Identification of Late Detected Developmental Disorders?

Authors:  Sigrun Lang; Katrin D Bartl-Pokorny; Florian B Pokorny; Dunia Garrido; Nivedita Mani; Annette V Fox-Boyer; Dajie Zhang; Peter B Marschik
Journal:  Curr Dev Disord Rep       Date:  2019-05-30

4.  Typical vs. atypical: Combining auditory Gestalt perception and acoustic analysis of early vocalisations in Rett syndrome.

Authors:  Florian B Pokorny; Katrin D Bartl-Pokorny; Christa Einspieler; Dajie Zhang; Ralf Vollmann; Sven Bölte; Markus Gugatschka; Björn W Schuller; Peter B Marschik
Journal:  Res Dev Disabil       Date:  2018-03-15

5.  Monozygotic twins with Rett syndrome: Phenotyping the first two years of life.

Authors:  Christa Einspieler; Peter B Marschik; Wanderley Domingues; Victor B Talisa; Katrin D Bartl-Pokorny; Thomas Wolin; Jeff Sigafoos
Journal:  J Dev Phys Disabil       Date:  2014-04

6.  Comparing social reciprocity in preserved speech variant and typical Rett syndrome during the early years of life.

Authors:  Gillian S Townend; Katrin D Bartl-Pokorny; Jeff Sigafoos; Leopold M G Curfs; Sven Bölte; Luise Poustka; Christa Einspieler; Peter B Marschik
Journal:  Res Dev Disabil       Date:  2015-07-07

7.  Three different profiles: early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal development.

Authors:  Peter B Marschik; Katrin D Bartl-Pokorny; Helen Tager-Flusberg; Walter E Kaufmann; Florian Pokorny; Tobias Grossmann; Christian Windpassinger; Erwin Petek; Christa Einspieler
Journal:  Dev Neurorehabil       Date:  2013-10-02       Impact factor: 2.308

  7 in total

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