Literature DB >> 26159884

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

Gillian S Townend1, Katrin D Bartl-Pokorny2, Jeff Sigafoos3, Leopold M G Curfs1, Sven Bölte4, Luise Poustka5, Christa Einspieler2, Peter B Marschik6.   

Abstract

This study compared early markers of social reciprocity in children with typical Rett syndrome (RTT) and in those with the preserved speech variant (PSV) of RTT. Retrospective video analysis of 10 toddlers with typical RTT and five with PSV investigated participants' orientation to their name being called between the ages of 5 and 24 months, prior to their diagnosis. From analysis of the recordings two distinct profiles were apparent. Although response rate was higher in girls with typical RTT than PSV at 5 to 8 months this noticeably reversed from 9 to 12 months onwards. By two years of age there was a markedly higher rate and range of responses from girls with PSV. This study contributes to the delineation of different profiles for the variants of RTT.
Copyright © 2015 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Family videos; Home videos; Preserved speech variant; Response to name; Retrospective video analysis; Rett syndrome; Social awareness

Mesh:

Year:  2015        PMID: 26159884      PMCID: PMC5951281          DOI: 10.1016/j.ridd.2015.06.008

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


  51 in total

1.  Brief report: Recognition of autism spectrum disorder before one year of age: a retrospective study based on home videotapes.

Authors:  E Werner; G Dawson; J Osterling; N Dinno
Journal:  J Autism Dev Disord       Date:  2000-04

Review 2.  Clinical manifestations and stages of Rett syndrome.

Authors:  Bengt Hagberg
Journal:  Ment Retard Dev Disabil Res Rev       Date:  2002

3.  Should a syndrome be called by its correct name? The example of the preserved speech variant of Rett syndrome.

Authors:  Michele Zappella; Francesca Mari; Alessandra Renieri
Journal:  Eur J Pediatr       Date:  2005-07-12       Impact factor: 3.183

4.  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

Review 5.  Rett syndrome and the autistic disorders.

Authors:  A Percy; C Gillberg; B Hagberg; I Witt-Engerström
Journal:  Neurol Clin       Date:  1990-08       Impact factor: 3.806

6.  Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes.

Authors:  Teresa Temudo; Mónica Santos; Elisabete Ramos; Karin Dias; José Pedro Vieira; Ana Moreira; Eulália Calado; Inês Carrilho; Guiomar Oliveira; António Levy; Clara Barbot; Maria Fonseca; Alexandra Cabral; Pedro Cabral; José Monteiro; Luís Borges; Roseli Gomes; Graça Mira; Susana Aires Pereira; Manuela Santos; Anabela Fernandes; Jorg T Epplen; Jorge Sequeiros; Patrícia Maciel
Journal:  Brain Dev       Date:  2010-02-08       Impact factor: 1.961

7.  Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome.

Authors:  Anna Urbanowicz; Jenny Downs; Sonya Girdler; Natalie Ciccone; Helen Leonard
Journal:  Am J Med Genet A       Date:  2014-11-26       Impact factor: 2.802

8.  Rett Syndrome.

Authors:  E E J Smeets; K Pelc; B Dan
Journal:  Mol Syndromol       Date:  2012-04-16

9.  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

10.  Early recognition of children with autism: a study of first birthday home videotapes.

Authors:  J Osterling; G Dawson
Journal:  J Autism Dev Disord       Date:  1994-06
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  5 in total

Review 1.  Response to name and its value for the early detection of developmental disorders: Insights from autism spectrum disorder, Rett syndrome, and fragile X syndrome. A perspectives paper.

Authors:  Dajie Zhang; Laura Roche; Katrin D Bartl-Pokorny; Magdalena Krieber; Laurie McLay; Sven Bölte; Luise Poustka; Jeff Sigafoos; Markus Gugatschka; Christa Einspieler; Peter B Marschik
Journal:  Res Dev Disabil       Date:  2018-04-12

2.  The Quality of Life in Girls with Rett Syndrome.

Authors:  Lucia Parisi; Teresa Di Filippo; Michele Roccella
Journal:  Ment Illn       Date:  2016-05-18

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

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.  Loss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome.

Authors:  Surabi Veeraragavan; Ying-Wooi Wan; Daniel R Connolly; Shannon M Hamilton; Christopher S Ward; Sirena Soriano; Meagan R Pitcher; Christopher M McGraw; Sharon G Huang; Jennie R Green; Lisa A Yuva; Agnes J Liang; Jeffrey L Neul; Dag H Yasui; Janine M LaSalle; Zhandong Liu; Richard Paylor; Rodney C Samaco
Journal:  Hum Mol Genet       Date:  2016-06-30       Impact factor: 6.150

  5 in total

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