Literature DB >> 23891731

Early socio-communicative forms and functions in typical Rett syndrome.

Katrin D Bartl-Pokorny1, Peter B Marschik, Jeff Sigafoos, Helen Tager-Flusberg, Walter E Kaufmann, Tobias Grossmann, Christa Einspieler.   

Abstract

Rett syndrome (RTT) is a severe neurological disorder characterized by a developmental regression in motor and speech-language domains. There is, however, limited research on socio-communicative development of affected children before the onset of regression. We analyzed audio-video recordings made by parents of six 9- to 12-month old girls later diagnosed with typical RTT, applying the Inventory of Potential Communicative Acts (IPCA) to identify early communicative forms and functions. Each girl used at least one communicative form (e.g., body movement, eye gaze, or vocalizations) to gain attention and answer, but none were observed to make choices or request information. Varying numbers of children were observed to perform other communicative functions according to the IPCA including social convention, rejecting or requesting an object. Non-verbal forms (e.g., reaching, moving closer, eye contact, smiling) were more common than non-linguistic verbal forms (e.g., unspecified vocalizations, pleasure vocalizations, crying). (Pre-)linguistic verbal forms (e.g., canonical or variegated babbling, proto-words) were not used for communicative purposes. These data suggest that atypical developmental patterns in the socio-communicative domain are evident prior to regression in young individuals later diagnosed with RTT.
Copyright © 2013 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Family videos; Home videos; Infants; Retrospective analysis; Rett syndrome; Socio-communicative development; Video analysis

Mesh:

Year:  2013        PMID: 23891731      PMCID: PMC5951273          DOI: 10.1016/j.ridd.2013.06.040

Source DB:  PubMed          Journal:  Res Dev Disabil        ISSN: 0891-4222


  40 in total

1.  Communication profiles of individuals with Down's syndrome, Angelman syndrome and pervasive developmental disorder.

Authors:  P C Duker; S van Driel; J van de Bercken
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Authors:  G T Baranek
Journal:  J Autism Dev Disord       Date:  1999-06

3.  Shared intentionality.

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Review 4.  Early identification of autism spectrum disorders.

Authors:  Lonnie Zwaigenbaum; Susan Bryson; Nancy Garon
Journal:  Behav Brain Res       Date:  2013-04-12       Impact factor: 3.332

5.  Parental reports on early language and motor milestones in fragile X syndrome with and without autism spectrum disorders.

Authors:  Rebecca Hinton; Dejan B Budimirovic; Peter B Marschik; Victor B Talisa; Christa Einspieler; Tanjala Gipson; Michael V Johnston
Journal:  Dev Neurorehabil       Date:  2013       Impact factor: 2.308

6.  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

7.  Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.

Authors:  J L Neul; P Fang; J Barrish; J Lane; E B Caeg; E O Smith; H Zoghbi; A Percy; D G Glaze
Journal:  Neurology       Date:  2008-03-12       Impact factor: 9.910

8.  Peculiarities in the gestural repertoire: an early marker for Rett syndrome?

Authors:  Peter B Marschik; Jeff Sigafoos; Walter E Kaufmann; Thomas Wolin; Victor B Talisa; Katrin D Bartl-Pokorny; Dejan B Budimirovic; Ralf Vollmann; Christa Einspieler
Journal:  Res Dev Disabil       Date:  2012-06-13

9.  Contributing to the early detection of Rett syndrome: the potential role of auditory Gestalt perception.

Authors:  Peter B Marschik; Christa Einspieler; Jeff Sigafoos
Journal:  Res Dev Disabil       Date:  2011-11-24

10.  Case report: Retracing atypical development: a preserved speech variant of Rett syndrome.

Authors:  Peter B Marschik; Christa Einspieler; Andreas Oberle; Franco Laccone; Heinz F R Prechtl
Journal:  J Autism Dev Disord       Date:  2009-02-18
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  9 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.  Development of socio-communicative skills in 9- to 12-month-old individuals with fragile X syndrome.

Authors:  Peter B Marschik; Katrin D Bartl-Pokorny; Jeff Sigafoos; Leo Urlesberger; Florian Pokorny; Robert Didden; Christa Einspieler; Walter E Kaufmann
Journal:  Res Dev Disabil       Date:  2014-01-27

3.  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 4.  Overview of Social Cognitive Dysfunctions in Rare Developmental Syndromes With Psychiatric Phenotype.

Authors:  Aurore Morel; Elodie Peyroux; Arnaud Leleu; Emilie Favre; Nicolas Franck; Caroline Demily
Journal:  Front Pediatr       Date:  2018-05-03       Impact factor: 3.418

5.  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

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

8.  Eye Gaze Technology as a Form of Augmentative and Alternative Communication for Individuals with Rett Syndrome: Experiences of Families in The Netherlands.

Authors:  Gillian S Townend; Peter B Marschik; Eric Smeets; Raymond van de Berg; Mariёlle van den Berg; Leopold M G Curfs
Journal:  J Dev Phys Disabil       Date:  2015-10-19

9.  Behavioural biomarkers of typical Rett syndrome: moving towards early identification.

Authors:  Christa Einspieler; Michael Freilinger; Peter B Marschik
Journal:  Wien Med Wochenschr       Date:  2016-08-11
  9 in total

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