Case Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome / Peter B. MARSCHIK in Journal of Autism and Developmental Disorders, 39-6 (June 2009)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 39-6 (June 2009) . - p.958-961 Titre : Case Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Peter B. MARSCHIK, Auteur ; Heinz F. R. PRECHTL, Auteur ; Christa EINSPIELER, Auteur ; Andreas OBERLE, Auteur ; Franco LACCONE, Auteur Année de publication : 2009 Article en page(s) : p.958-961 Langues : Anglais (eng) Mots-clés : Autism-spectrum Development Genetic-disorder General-movements Language MECP2 Stereotypies Index. décimale : PER Périodiques Résumé : The subject of the present study is the development of a girl with the preserved speech variant of Rett disorder. Our data are based on detailed retrospective and prospective video analyses. Despite achieving developmental milestones, movement quality was already abnormal during the girl's first half year of life. In addition, early hand stereotypies, idiosyncratic vocalizations, asymmetric eye opening, and abnormal facial expressions are early signs proving that this variant of the Rett complex, too, manifests itself within the first months of life. En ligne : http://dx.doi.org/10.1007/s10803-009-0703-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=759 [article] Case Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome [Texte imprimé et/ou numérique] / Peter B. MARSCHIK, Auteur ; Heinz F. R. PRECHTL, Auteur ; Christa EINSPIELER, Auteur ; Andreas OBERLE, Auteur ; Franco LACCONE, Auteur . - 2009 . - p.958-961. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 39-6 (June 2009) . - p.958-961 Mots-clés : Autism-spectrum Development Genetic-disorder General-movements Language MECP2 Stereotypies Index. décimale : PER Périodiques Résumé : The subject of the present study is the development of a girl with the preserved speech variant of Rett disorder. Our data are based on detailed retrospective and prospective video analyses. Despite achieving developmental milestones, movement quality was already abnormal during the girl's first half year of life. In addition, early hand stereotypies, idiosyncratic vocalizations, asymmetric eye opening, and abnormal facial expressions are early signs proving that this variant of the Rett complex, too, manifests itself within the first months of life. En ligne : http://dx.doi.org/10.1007/s10803-009-0703-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=759

Highlighting the first 5 months of life: General movements in infants later diagnosed with autism spectrum disorder or Rett syndrome / Christa EINSPIELER in Research in Autism Spectrum Disorders, 8-3 (March 2014)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 8-3 (March 2014) . - p.286-291 Titre : Highlighting the first 5 months of life: General movements in infants later diagnosed with autism spectrum disorder or Rett syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Christa EINSPIELER, Auteur ; Jeff SIGAFOOS, Auteur ; Katrin D. BARTL-POKORNY, Auteur ; Rebecca LANDA, Auteur ; Peter B. MARSCHIK, Auteur ; Sven BÖLTE, Auteur Article en page(s) : p.286-291 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Family videos  General movement assessment  Infant  Rett syndrome  Spontaneous movements Index. décimale : PER Périodiques Résumé : Abstract We review literature identifying an association between motor abnormality in the first 5 months of infancy and later diagnosis of autism spectrum disorder (ASD) or Rett syndrome (RTT). The assessment of the quality of early spontaneous movements (also known as the assessment of general movements; GMs) is a diagnostic tool that has repeatedly proven to be valuable in detecting early markers for neurodevelopmental disorders. Even though the rate of occurrence of abnormal GMs is exceedingly high in infants later diagnosed with ASD, we endorse further studies using this method either based on family videos or its prospective implementation in high-risk sibling studies to evaluate the power of GM assessment as one potential marker for early maldevelopment in this cohort. En ligne : http://dx.doi.org/10.1016/j.rasd.2013.12.013 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=224 [article] Highlighting the first 5 months of life: General movements in infants later diagnosed with autism spectrum disorder or Rett syndrome [Texte imprimé et/ou numérique] / Christa EINSPIELER, Auteur ; Jeff SIGAFOOS, Auteur ; Katrin D. BARTL-POKORNY, Auteur ; Rebecca LANDA, Auteur ; Peter B. MARSCHIK, Auteur ; Sven BÖLTE, Auteur . - p.286-291. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 8-3 (March 2014) . - p.286-291 Mots-clés : Autism spectrum disorder  Family videos  General movement assessment  Infant  Rett syndrome  Spontaneous movements Index. décimale : PER Périodiques Résumé : Abstract We review literature identifying an association between motor abnormality in the first 5 months of infancy and later diagnosis of autism spectrum disorder (ASD) or Rett syndrome (RTT). The assessment of the quality of early spontaneous movements (also known as the assessment of general movements; GMs) is a diagnostic tool that has repeatedly proven to be valuable in detecting early markers for neurodevelopmental disorders. Even though the rate of occurrence of abnormal GMs is exceedingly high in infants later diagnosed with ASD, we endorse further studies using this method either based on family videos or its prospective implementation in high-risk sibling studies to evaluate the power of GM assessment as one potential marker for early maldevelopment in this cohort. En ligne : http://dx.doi.org/10.1016/j.rasd.2013.12.013 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=224

The quality of preterm infants'spontaneous movements: an early indicator of intelligence and behaviour at school age / Phillipa R. BUTCHER in Journal of Child Psychology and Psychiatry, 50-8 (August 2009)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 50-8 (August 2009) . - p.920-930 Titre : The quality of preterm infants'spontaneous movements: an early indicator of intelligence and behaviour at school age Type de document : Texte imprimé et/ou numérique Auteurs : Phillipa R. BUTCHER, Auteur ; Christa EINSPIELER, Auteur ; Koen VAN BRAECKEL, Auteur ; Anke BOUMA, Auteur ; Elisabeth F. STREMMELAAR, Auteur ; Arend F. BOS, Auteur Année de publication : 2009 Article en page(s) : p.920-930 Langues : Anglais (eng) Mots-clés : General-movements intelligence behaviour development preterm Index. décimale : PER Périodiques Résumé : Background: The quality of very preterm infants' spontaneous movements at 11 to 16 weeks post-term age is a powerful predictor of their later neurological status. This study investigated whether early spontaneous movements also have predictive value for the intellectual and behavioural problems that children born very preterm often experience. Methods: Spontaneous movement quality was assessed, using Prechtl's method, at 11 to 16 weeks post-term in 65 infants born at ≤ 33 weeks of gestation in a single centre. Intelligence and behaviour were assessed with standardised tests at 7 to 11 years of age. Neurological status was assessed with Touwen's test. Multiple regression was used to determine the predictive value of movement quality for intelligence and behavioural problems. The Sobel test was used to determine if neurological status mediated associations found between early movement quality and outcome. Results: Spontaneous movement quality at 11 to 16 weeks post-term was significantly, positively associated with later intelligence. The number of normal postural patterns displayed contributed most strongly to the association, which was not mediated by neurological status. Fidgety movements, strong predictors of later neurological dysfunction, were not associated with intelligence. Spontaneous movement quality was not associated with internalising or externalising problems but showed a trend to an association with attention problems. Conclusion: These findings suggest that, in children born preterm, early spontaneous movement quality has clear prognostic value for neurological and intellectual outcome, and to a lesser extent, for attentional outcome. However, cognitive outcome was associated with the presence of specific, age-appropriate postural patterns, while neurological outcome has been associated with the presence of global movement abnormalities. The presence of specific, age-appropriate postural patterns may reflect the integrity of areas of the brain involved in cognitive processing and the regulation of attention later in childhood. Alternately, it may facilitate cognitive and attentional development. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2009.02066.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=787 [article] The quality of preterm infants'spontaneous movements: an early indicator of intelligence and behaviour at school age [Texte imprimé et/ou numérique] / Phillipa R. BUTCHER, Auteur ; Christa EINSPIELER, Auteur ; Koen VAN BRAECKEL, Auteur ; Anke BOUMA, Auteur ; Elisabeth F. STREMMELAAR, Auteur ; Arend F. BOS, Auteur . - 2009 . - p.920-930. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 50-8 (August 2009) . - p.920-930 Mots-clés : General-movements intelligence behaviour development preterm Index. décimale : PER Périodiques Résumé : Background: The quality of very preterm infants' spontaneous movements at 11 to 16 weeks post-term age is a powerful predictor of their later neurological status. This study investigated whether early spontaneous movements also have predictive value for the intellectual and behavioural problems that children born very preterm often experience. Methods: Spontaneous movement quality was assessed, using Prechtl's method, at 11 to 16 weeks post-term in 65 infants born at ≤ 33 weeks of gestation in a single centre. Intelligence and behaviour were assessed with standardised tests at 7 to 11 years of age. Neurological status was assessed with Touwen's test. Multiple regression was used to determine the predictive value of movement quality for intelligence and behavioural problems. The Sobel test was used to determine if neurological status mediated associations found between early movement quality and outcome. Results: Spontaneous movement quality at 11 to 16 weeks post-term was significantly, positively associated with later intelligence. The number of normal postural patterns displayed contributed most strongly to the association, which was not mediated by neurological status. Fidgety movements, strong predictors of later neurological dysfunction, were not associated with intelligence. Spontaneous movement quality was not associated with internalising or externalising problems but showed a trend to an association with attention problems. Conclusion: These findings suggest that, in children born preterm, early spontaneous movement quality has clear prognostic value for neurological and intellectual outcome, and to a lesser extent, for attentional outcome. However, cognitive outcome was associated with the presence of specific, age-appropriate postural patterns, while neurological outcome has been associated with the presence of global movement abnormalities. The presence of specific, age-appropriate postural patterns may reflect the integrity of areas of the brain involved in cognitive processing and the regulation of attention later in childhood. Alternately, it may facilitate cognitive and attentional development. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2009.02066.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=787

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