Literature DB >> 24304241

General movements in genetic disorders: A first look into Cornelia de Lange syndrome.

Peter B Marschik1, Marina Soloveichick, Christian Windpassinger, Christa Einspieler.   

Abstract

The assessment of General Movements (GMs), i.e. age-specific motor patterns during the first months of life, has repeatedly proven to be a valuable tool to predict neurodevelopmental outcomes. Abnormal spontaneous GMs were found to be among the most reliable markers for cerebral palsy. To add to the knowledge of the abnormal early motor repertoire we analysed prospectively collected video recordings of a boy clinically diagnosed with Cornelia de Lange syndrome. The observed atypical GMs are a further step to disentangle early motor peculiarities in the light of the genetic impact on the developing brain.

Entities:  

Keywords:  General movements; motor development; spontaneous movements; video analysis

Mesh:

Year:  2013        PMID: 24304241      PMCID: PMC5951282          DOI: 10.3109/17518423.2013.859180

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


  23 in total

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Authors:  Yolande Noble; Roslyn Boyd
Journal:  Dev Med Child Neurol       Date:  2011-12-05       Impact factor: 5.449

2.  Pilot use of the early motor repertoire in infants with inborn errors of metabolism: outcomes in early and middle childhood.

Authors:  J L M Bruggink; F J van Spronsen; B J Wijnberg-Williams; A F Bos
Journal:  Early Hum Dev       Date:  2009-04-28       Impact factor: 2.079

3.  An early marker for neurological deficits after perinatal brain lesions.

Authors:  H F Prechtl; C Einspieler; G Cioni; A F Bos; F Ferrari; D Sontheimer
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4.  Role of vision on early motor development: lessons from the blind.

Authors:  H F Prechtl; G Cioni; C Einspieler; A F Bos; F Ferrari
Journal:  Dev Med Child Neurol       Date:  2001-03       Impact factor: 5.449

Review 5.  Prechtl's assessment of general movements: a diagnostic tool for the functional assessment of the young nervous system.

Authors:  Christa Einspieler; Heinz F R Prechtl
Journal:  Ment Retard Dev Disabil Res Rev       Date:  2005

6.  The General Movements in children with Down syndrome.

Authors:  Luigi Mazzone; Diego Mugno; Domenico Mazzone
Journal:  Early Hum Dev       Date:  2004-09       Impact factor: 2.079

7.  Behavioural phenotype of Cornelia de Lange syndrome: case-control study.

Authors:  Chris Oliver; Kate Arron; Jenny Sloneem; Scott Hall
Journal:  Br J Psychiatry       Date:  2008-12       Impact factor: 9.319

8.  Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP.

Authors:  Marrit M Hitzert; Arend F Bos; Klasien A Bergman; Alex Veldman; Guenter Schwarz; José Angel Santamaria-Araujo; Rebecca Heiner-Fokkema; Deborah A Sival; Roelineke J Lunsing; Sita Arjune; Jos G W Kosterink; Francjan J van Spronsen
Journal:  Pediatrics       Date:  2012-09-17       Impact factor: 7.124

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.  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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  6 in total

1.  The motor repertoire in 3- to 5-month old infants with Down syndrome.

Authors:  Dafne Herrero; Christa Einspieler; Carolina Y Panvequio Aizawa; Akmer Mutlu; Hong Yang; Alice Nogolová; Jasmin Pansy; Karin Nielsen-Saines; Peter B Marschik
Journal:  Res Dev Disabil       Date:  2017-06-03

Review 2.  A Novel Way to Measure and Predict Development: A Heuristic Approach to Facilitate the Early Detection of Neurodevelopmental Disorders.

Authors:  Peter B Marschik; Florian B Pokorny; Robert Peharz; Dajie Zhang; Jonathan O'Muircheartaigh; Herbert Roeyers; Sven Bölte; Alicia J Spittle; Berndt Urlesberger; Björn Schuller; Luise Poustka; Sally Ozonoff; Franz Pernkopf; Thomas Pock; Kristiina Tammimies; Christian Enzinger; Magdalena Krieber; Iris Tomantschger; Katrin D Bartl-Pokorny; Jeff Sigafoos; Laura Roche; Gianluca Esposito; Markus Gugatschka; Karin Nielsen-Saines; Christa Einspieler; Walter E Kaufmann
Journal:  Curr Neurol Neurosci Rep       Date:  2017-05       Impact factor: 5.081

Review 3.  The future of General Movement Assessment: The role of computer vision and machine learning - A scoping review.

Authors:  Nelson Silva; Dajie Zhang; Tomas Kulvicius; Alexander Gail; Carla Barreiros; Stefanie Lindstaedt; Marc Kraft; Sven Bölte; Luise Poustka; Karin Nielsen-Saines; Florentin Wörgötter; Christa Einspieler; Peter B Marschik
Journal:  Res Dev Disabil       Date:  2021-02-08

4.  Inter- and intra-observer reliability of the "Assessment of Motor Repertoire- 3 to 5 Months" based on video recordings of infants with Prader-Willi syndrome.

Authors:  Jun Wang; Xiushu Shen; Hong Yang; Wei Shi; Xiaoyun Zhu; Herong Gao; Huanhuan Yin; Fanzhe Meng; Yun Wu
Journal:  BMC Pediatr       Date:  2022-03-22       Impact factor: 2.125

Review 5.  The General Movement Assessment Helps Us to Identify Preterm Infants at Risk for Cognitive Dysfunction.

Authors:  Christa Einspieler; Arend F Bos; Melissa E Libertus; Peter B Marschik
Journal:  Front Psychol       Date:  2016-03-22

6.  Highlighting the first 5 months of life: General movements in infants later diagnosed with autism spectrum disorder or Rett Syndrome.

Authors:  Christa Einspieler; Jeff Sigafoos; Sven Bölte; Katrin D Bratl-Pokorny; Rebecca Landa; Peter B Marschik
Journal:  Res Autism Spectr Disord       Date:  2014-01-09
  6 in total

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