Literature DB >> 16182501

Abnormal general movements in girls with Rett disorder: the first four months of life.

Christa Einspieler1, Alison M Kerr, Heinz F R Prechtl.   

Abstract

An apparently normal early development was one of the initial criteria for classical Rett syndrome. However, several investigators considered Rett syndrome to be a developmental disorder manifesting very soon after birth. Videos of 14 infants with Rett disorder were carefully assessed for their spontaneous movements, in particular general movements (GMs), during the first 4 months of life. A detailed analysis clearly demonstrated that none of the infants had normal GMs. However, a specific abnormal GM pattern could not be detected for Rett disorder. The abnormal GMs described here, and their individual developmental trajectories are different from the abnormal GMs described in infants with acquired brain lesion. Our study is the first to apply specific standardised measures of early spontaneous movements to infants with Rett syndrome, proving conclusively that the disorder is manifest within the first weeks of life.

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Year:  2005        PMID: 16182501     DOI: 10.1016/j.braindev.2005.03.014

Source DB:  PubMed          Journal:  Brain Dev        ISSN: 0387-7604            Impact factor:   1.961


  33 in total

1.  Development of a video-based evaluation tool in Rett syndrome.

Authors:  S Fyfe; J Downs; O McIlroy; B Burford; J Lister; S Reilly; C L Laurvick; C Philippe; M Msall; W E Kaufmann; C Ellaway; H Leonard
Journal:  J Autism Dev Disord       Date:  2006-12-16

2.  Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome.

Authors:  Stephanie Fehr; Jenny Downs; Ami Bebbington; Helen Leonard
Journal:  Am J Med Genet A       Date:  2010-10       Impact factor: 2.802

3.  F2-dihomo-isoprostanes as potential early biomarkers of lipid oxidative damage in Rett syndrome.

Authors:  Claudio De Felice; Cinzia Signorini; Thierry Durand; Camille Oger; Alexandre Guy; Valérie Bultel-Poncé; Jean-Marie Galano; Lucia Ciccoli; Silvia Leoncini; Maurizio D'Esposito; Stefania Filosa; Alessandra Pecorelli; Giuseppe Valacchi; Joussef Hayek
Journal:  J Lipid Res       Date:  2011-09-13       Impact factor: 5.922

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

Authors:  Peter B Marschik; Ralf Vollmann; Katrin D Bartl-Pokorny; Vanessa A Green; Larah van der Meer; Thomas Wolin; Christa Einspieler
Journal:  Dev Neurorehabil       Date:  2013-07-19       Impact factor: 2.308

5.  Selective cerebral volume reduction in Rett syndrome: a multiple-approach MR imaging study.

Authors:  J C Carter; D C Lanham; D Pham; G Bibat; S Naidu; W E Kaufmann
Journal:  AJNR Am J Neuroradiol       Date:  2007-12-07       Impact factor: 3.825

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

Authors:  Katrin D Bartl-Pokorny; Peter B Marschik; Jeff Sigafoos; Helen Tager-Flusberg; Walter E Kaufmann; Tobias Grossmann; Christa Einspieler
Journal:  Res Dev Disabil       Date:  2013-07-24

7.  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

Review 8.  Rett syndrome: insights into genetic, molecular and circuit mechanisms.

Authors:  Jacque P K Ip; Nikolaos Mellios; Mriganka Sur
Journal:  Nat Rev Neurosci       Date:  2018-06       Impact factor: 34.870

9.  Rett syndrome: revised diagnostic criteria and nomenclature.

Authors:  Jeffrey L Neul; Walter E Kaufmann; Daniel G Glaze; John Christodoulou; Angus J Clarke; Nadia Bahi-Buisson; Helen Leonard; Mark E S Bailey; N Carolyn Schanen; Michele Zappella; Alessandra Renieri; Peter Huppke; Alan K Percy
Journal:  Ann Neurol       Date:  2010-12       Impact factor: 10.422

10.  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
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