5 recherche sur le mot-clé 'Rubinstein-Taybi syndrome'

Evaluation of Motor Skills in Children with Rubinstein-Taybi Syndrome / J. R. CAZALETS in Journal of Autism and Developmental Disorders, 47-11 (November 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-11 (November 2017) . - p.3321-3332 Titre : Evaluation of Motor Skills in Children with Rubinstein-Taybi Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : J. R. CAZALETS, Auteur ; E. BESTAVEN, Auteur ; E. DOAT, Auteur ; M. P. BAUDIER, Auteur ; C. GALLOT, Auteur ; Anouck AMESTOY, Auteur ; Manuel P. BOUVARD, Auteur ; E. GUILLAUD, Auteur ; I. GUILLAIN, Auteur ; E. GRECH, Auteur ; J. VAN-GILS, Auteur ; P. FERGELOT, Auteur ; S. FRAISSE, Auteur ; E. TAUPIAC, Auteur ; Benoit ARVEILER, Auteur ; D. LACOMBE, Auteur Article en page(s) : p.3321-3332 Langues : Anglais (eng) Mots-clés : Gait  Intellectual disability  Locomotion  Posture  Rubinstein-Taybi syndrome Index. décimale : PER Périodiques Résumé : Rubinstein-Taybi syndrome (RTS) is a rare genetic disease that associates intellectual disability with somatic characteristics. We have conducted a study of the overall motor abilities of RTS participants. Static postural performance as well as gait parameters were somewhat decreased, although not significantly compared to typically developing (TD) participants. In contrast, the motor skills requiring a high level of visuomotor coordination were considerably degraded in RTS participants compared to TD participants. We also found that cognitive status was significantly correlated with performance for tasks requiring a higher level of visuomotor coordination in RTS but not TD participants. Our study demonstrates a reduction in the motor performance of RTS participants and a link between the level of intellectual disability and motor capacities. En ligne : http://dx.doi.org/10.1007/s10803-017-3259-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=324 [article] Evaluation of Motor Skills in Children with Rubinstein-Taybi Syndrome [Texte imprimé et/ou numérique] / J. R. CAZALETS, Auteur ; E. BESTAVEN, Auteur ; E. DOAT, Auteur ; M. P. BAUDIER, Auteur ; C. GALLOT, Auteur ; Anouck AMESTOY, Auteur ; Manuel P. BOUVARD, Auteur ; E. GUILLAUD, Auteur ; I. GUILLAIN, Auteur ; E. GRECH, Auteur ; J. VAN-GILS, Auteur ; P. FERGELOT, Auteur ; S. FRAISSE, Auteur ; E. TAUPIAC, Auteur ; Benoit ARVEILER, Auteur ; D. LACOMBE, Auteur . - p.3321-3332. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-11 (November 2017) . - p.3321-3332 Mots-clés : Gait  Intellectual disability  Locomotion  Posture  Rubinstein-Taybi syndrome Index. décimale : PER Périodiques Résumé : Rubinstein-Taybi syndrome (RTS) is a rare genetic disease that associates intellectual disability with somatic characteristics. We have conducted a study of the overall motor abilities of RTS participants. Static postural performance as well as gait parameters were somewhat decreased, although not significantly compared to typically developing (TD) participants. In contrast, the motor skills requiring a high level of visuomotor coordination were considerably degraded in RTS participants compared to TD participants. We also found that cognitive status was significantly correlated with performance for tasks requiring a higher level of visuomotor coordination in RTS but not TD participants. Our study demonstrates a reduction in the motor performance of RTS participants and a link between the level of intellectual disability and motor capacities. En ligne : http://dx.doi.org/10.1007/s10803-017-3259-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=324

Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome / Hayley CRAWFORD in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.22 Titre : Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Hayley CRAWFORD, Auteur ; J. MOSS, Auteur ; J. P. MCCLEERY, Auteur ; George M. ANDERSON, Auteur ; C. OLIVER, Auteur Article en page(s) : p.22 Langues : Anglais (eng) Mots-clés : Cornelia de Lange syndrome  Emotion preference  Eye gaze  Eye-tracking  Rubinstein-Taybi syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Existing literature suggests differences in face scanning in individuals with different socio-behavioural characteristics. Cornelia de Lange syndrome (CdLS) and Rubinstein-Taybi syndrome (RTS) are two genetically defined neurodevelopmental disorders with unique profiles of social behaviour. METHODS: Here, we examine eye gaze to the eye and mouth regions of neutrally expressive faces, as well as the spontaneous visual preference for happy and disgusted facial expressions compared to neutral faces, in individuals with CdLS versus RTS. RESULTS: Results indicate that the amount of time spent looking at the eye and mouth regions of faces was similar in 15 individuals with CdLS and 17 individuals with RTS. Both participant groups also showed a similar pattern of spontaneous visual preference for emotions. CONCLUSIONS: These results provide insight into two rare, genetically defined neurodevelopmental disorders that have been reported to exhibit contrasting socio-behavioural characteristics and suggest that differences in social behaviour may not be sufficient to predict attention to the eye region of faces. These results also suggest that differences in the social behaviours of these two groups may be cognitively mediated rather than subcortically mediated. En ligne : http://dx.doi.org/10.1186/s11689-015-9119-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome [Texte imprimé et/ou numérique] / Hayley CRAWFORD, Auteur ; J. MOSS, Auteur ; J. P. MCCLEERY, Auteur ; George M. ANDERSON, Auteur ; C. OLIVER, Auteur . - p.22. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.22 Mots-clés : Cornelia de Lange syndrome  Emotion preference  Eye gaze  Eye-tracking  Rubinstein-Taybi syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Existing literature suggests differences in face scanning in individuals with different socio-behavioural characteristics. Cornelia de Lange syndrome (CdLS) and Rubinstein-Taybi syndrome (RTS) are two genetically defined neurodevelopmental disorders with unique profiles of social behaviour. METHODS: Here, we examine eye gaze to the eye and mouth regions of neutrally expressive faces, as well as the spontaneous visual preference for happy and disgusted facial expressions compared to neutral faces, in individuals with CdLS versus RTS. RESULTS: Results indicate that the amount of time spent looking at the eye and mouth regions of faces was similar in 15 individuals with CdLS and 17 individuals with RTS. Both participant groups also showed a similar pattern of spontaneous visual preference for emotions. CONCLUSIONS: These results provide insight into two rare, genetically defined neurodevelopmental disorders that have been reported to exhibit contrasting socio-behavioural characteristics and suggest that differences in social behaviour may not be sufficient to predict attention to the eye region of faces. These results also suggest that differences in the social behaviours of these two groups may be cognitively mediated rather than subcortically mediated. En ligne : http://dx.doi.org/10.1186/s11689-015-9119-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

A Behavioural Assessment of Social Anxiety and Social Motivation in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes / Hayley CRAWFORD in Journal of Autism and Developmental Disorders, 50-1 (January 2020)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 50-1 (January 2020) . - p.127-144 Titre : A Behavioural Assessment of Social Anxiety and Social Motivation in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes Type de document : Texte imprimé et/ou numérique Auteurs : Hayley CRAWFORD, Auteur ; Joanna MOSS, Auteur ; Laura GROVES, Auteur ; Robyn DOWLEN, Auteur ; Lisa NELSON, Auteur ; Donna REID, Auteur ; Chris OLIVER, Auteur Article en page(s) : p.127-144 Langues : Anglais (eng) Mots-clés : Cornelia de Lange syndrome  Down syndrome  Fragile X syndrome  Rubinstein-Taybi syndrome  Social anxiety  social motivation Index. décimale : PER Périodiques Résumé : Unique socio-behavioural phenotypes are reported for individuals with different neurodevelopmental disorders. Here, the effects of adult familiarity and nature of interaction on social anxiety and social motivation were investigated in individuals with fragile X (FXS; n = 20), Cornelia de Lange (CdLS; n = 20) and Rubinstein-Taybi (RTS; n = 20) syndromes, compared to individuals with Down syndrome (DS; n = 20). The Social Anxiety and Motivation Rating Scale was employed whilst participants completed four social tasks, each administered separately by a familiar adult, and also by an unfamiliar adult. Compared to participants with DS, those with FXS and RTS exhibited high levels of social anxiety but similar levels of social motivation. Participants with CdLS showed heightened social anxiety and reduced social motivation only during interactions with an unfamiliar adult when active participation was voluntary. En ligne : http://dx.doi.org/10.1007/s10803-019-04232-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414 [article] A Behavioural Assessment of Social Anxiety and Social Motivation in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes [Texte imprimé et/ou numérique] / Hayley CRAWFORD, Auteur ; Joanna MOSS, Auteur ; Laura GROVES, Auteur ; Robyn DOWLEN, Auteur ; Lisa NELSON, Auteur ; Donna REID, Auteur ; Chris OLIVER, Auteur . - p.127-144. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 50-1 (January 2020) . - p.127-144 Mots-clés : Cornelia de Lange syndrome  Down syndrome  Fragile X syndrome  Rubinstein-Taybi syndrome  Social anxiety  social motivation Index. décimale : PER Périodiques Résumé : Unique socio-behavioural phenotypes are reported for individuals with different neurodevelopmental disorders. Here, the effects of adult familiarity and nature of interaction on social anxiety and social motivation were investigated in individuals with fragile X (FXS; n = 20), Cornelia de Lange (CdLS; n = 20) and Rubinstein-Taybi (RTS; n = 20) syndromes, compared to individuals with Down syndrome (DS; n = 20). The Social Anxiety and Motivation Rating Scale was employed whilst participants completed four social tasks, each administered separately by a familiar adult, and also by an unfamiliar adult. Compared to participants with DS, those with FXS and RTS exhibited high levels of social anxiety but similar levels of social motivation. Participants with CdLS showed heightened social anxiety and reduced social motivation only during interactions with an unfamiliar adult when active participation was voluntary. En ligne : http://dx.doi.org/10.1007/s10803-019-04232-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414

Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes / Hayley CRAWFORD in Journal of Autism and Developmental Disorders, 47-12 (December 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-12 (December 2017) . - p.3728-3740 Titre : Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes Type de document : Texte imprimé et/ou numérique Auteurs : Hayley CRAWFORD, Auteur ; J. WAITE, Auteur ; C. OLIVER, Auteur Année de publication : 2017 Article en page(s) : p.3728-3740 Langues : Anglais (eng) Mots-clés : Anxiety  Cornelia de Lange syndrome  Fragile X syndrome  Genetic syndromes  Intellectual disability  Rubinstein-Taybi syndrome Index. décimale : PER Périodiques Résumé : Anxiety disorders are heightened in specific genetic syndromes in comparison to intellectual disability of heterogeneous aetiology. In this study, we described and contrasted anxiety symptomatology in fragile X (FXS), Cornelia de Lange (CdLS) and Rubinstein-Taybi syndromes (RTS), and compared the symptomatology to normative data for typically-developing children and children diagnosed with an anxiety disorder. Scores did not differ between children diagnosed with an anxiety disorder and (a) participants with FXS on social phobia, panic/agoraphobia, physical injury fears, and obsessive-compulsive subscales (b) participants with CdLS on separation anxiety, generalized anxiety, panic/agoraphobia, physical injury fears and obsessive-compulsive subscales, and (c) participants with RTS on panic/agoraphobia and obsessive-compulsive subscales. The results highlight divergent profiles of anxiety symptomatology between these groups. En ligne : http://dx.doi.org/10.1007/s10803-016-3015-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=325 [article] Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes [Texte imprimé et/ou numérique] / Hayley CRAWFORD, Auteur ; J. WAITE, Auteur ; C. OLIVER, Auteur . - 2017 . - p.3728-3740. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-12 (December 2017) . - p.3728-3740 Mots-clés : Anxiety  Cornelia de Lange syndrome  Fragile X syndrome  Genetic syndromes  Intellectual disability  Rubinstein-Taybi syndrome Index. décimale : PER Périodiques Résumé : Anxiety disorders are heightened in specific genetic syndromes in comparison to intellectual disability of heterogeneous aetiology. In this study, we described and contrasted anxiety symptomatology in fragile X (FXS), Cornelia de Lange (CdLS) and Rubinstein-Taybi syndromes (RTS), and compared the symptomatology to normative data for typically-developing children and children diagnosed with an anxiety disorder. Scores did not differ between children diagnosed with an anxiety disorder and (a) participants with FXS on social phobia, panic/agoraphobia, physical injury fears, and obsessive-compulsive subscales (b) participants with CdLS on separation anxiety, generalized anxiety, panic/agoraphobia, physical injury fears and obsessive-compulsive subscales, and (c) participants with RTS on panic/agoraphobia and obsessive-compulsive subscales. The results highlight divergent profiles of anxiety symptomatology between these groups. En ligne : http://dx.doi.org/10.1007/s10803-016-3015-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=325

Visual preference for social stimuli in individuals with autism or neurodevelopmental disorders: an eye-tracking study / Hayley CRAWFORD in Molecular Autism, 7 (2016)  

Public ISBD [article]  inMolecular Autism > 7 (2016) . - 24p. Titre : Visual preference for social stimuli in individuals with autism or neurodevelopmental disorders: an eye-tracking study Type de document : Texte imprimé et/ou numérique Auteurs : Hayley CRAWFORD, Auteur ; J. MOSS, Auteur ; C. OLIVER, Auteur ; N. ELLIOTT, Auteur ; George M. ANDERSON, Auteur ; J. P. MCCLEERY, Auteur Article en page(s) : 24p. Langues : Anglais (eng) Mots-clés : Adolescent  Autism Spectrum Disorder/physiopathology  Case-Control Studies  De Lange Syndrome/physiopathology  Eye Movements/physiology  Female  Fragile X Syndrome/physiopathology  Humans  Male  Photic Stimulation  Rubinstein-Taybi Syndrome/physiopathology  Social Behavior  Visual Perception/physiology  Autism spectrum disorder  Cornelia de Lange syndrome  Eye-tracking  Fragile X syndrome  Rubinstein-Taybi syndrome  Social attention Index. décimale : PER Périodiques Résumé : BACKGROUND: Recent research has identified differences in relative attention to competing social versus non-social video stimuli in individuals with autism spectrum disorder (ASD). Whether attentional allocation is influenced by the potential threat of stimuli has yet to be investigated. This is manipulated in the current study by the extent to which the stimuli are moving towards or moving past the viewer. Furthermore, little is known about whether such differences exist across other neurodevelopmental disorders. This study aims to determine if adolescents with ASD demonstrate differences in attentional allocation to competing pairs of social and non-social video stimuli, where the actor or object either moves towards or moves past the viewer, in comparison to individuals without ASD, and to determine if individuals with three genetic syndromes associated with differing social phenotypes demonstrate differences in attentional allocation to the same stimuli. METHODS: In study 1, adolescents with ASD and control participants were presented with social and non-social video stimuli in two formats (moving towards or moving past the viewer) whilst their eye movements were recorded. This paradigm was then employed with groups of individuals with fragile X, Cornelia de Lange, and Rubinstein-Taybi syndromes who were matched with one another on chronological age, global adaptive behaviour, and verbal adaptive behaviour (study 2). RESULTS: Adolescents with ASD demonstrated reduced looking-time to social versus non-social videos only when stimuli were moving towards them. Individuals in the three genetic syndrome groups showed similar looking-time but differences in fixation latency for social stimuli moving towards them. Across both studies, we observed within- and between-group differences in attention to social stimuli that were moving towards versus moving past the viewer. CONCLUSIONS: Taken together, these results provide strong evidence to suggest differential visual attention to competing social versus non-social video stimuli in populations with clinically relevant, genetically mediated differences in socio-behavioural phenotypes. En ligne : http://dx.doi.org/10.1186/s13229-016-0084-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328 [article] Visual preference for social stimuli in individuals with autism or neurodevelopmental disorders: an eye-tracking study [Texte imprimé et/ou numérique] / Hayley CRAWFORD, Auteur ; J. MOSS, Auteur ; C. OLIVER, Auteur ; N. ELLIOTT, Auteur ; George M. ANDERSON, Auteur ; J. P. MCCLEERY, Auteur . - 24p. Langues : Anglais (eng) in Molecular Autism > 7 (2016) . - 24p. Mots-clés : Adolescent  Autism Spectrum Disorder/physiopathology  Case-Control Studies  De Lange Syndrome/physiopathology  Eye Movements/physiology  Female  Fragile X Syndrome/physiopathology  Humans  Male  Photic Stimulation  Rubinstein-Taybi Syndrome/physiopathology  Social Behavior  Visual Perception/physiology  Autism spectrum disorder  Cornelia de Lange syndrome  Eye-tracking  Fragile X syndrome  Rubinstein-Taybi syndrome  Social attention Index. décimale : PER Périodiques Résumé : BACKGROUND: Recent research has identified differences in relative attention to competing social versus non-social video stimuli in individuals with autism spectrum disorder (ASD). Whether attentional allocation is influenced by the potential threat of stimuli has yet to be investigated. This is manipulated in the current study by the extent to which the stimuli are moving towards or moving past the viewer. Furthermore, little is known about whether such differences exist across other neurodevelopmental disorders. This study aims to determine if adolescents with ASD demonstrate differences in attentional allocation to competing pairs of social and non-social video stimuli, where the actor or object either moves towards or moves past the viewer, in comparison to individuals without ASD, and to determine if individuals with three genetic syndromes associated with differing social phenotypes demonstrate differences in attentional allocation to the same stimuli. METHODS: In study 1, adolescents with ASD and control participants were presented with social and non-social video stimuli in two formats (moving towards or moving past the viewer) whilst their eye movements were recorded. This paradigm was then employed with groups of individuals with fragile X, Cornelia de Lange, and Rubinstein-Taybi syndromes who were matched with one another on chronological age, global adaptive behaviour, and verbal adaptive behaviour (study 2). RESULTS: Adolescents with ASD demonstrated reduced looking-time to social versus non-social videos only when stimuli were moving towards them. Individuals in the three genetic syndrome groups showed similar looking-time but differences in fixation latency for social stimuli moving towards them. Across both studies, we observed within- and between-group differences in attention to social stimuli that were moving towards versus moving past the viewer. CONCLUSIONS: Taken together, these results provide strong evidence to suggest differential visual attention to competing social versus non-social video stimuli in populations with clinically relevant, genetically mediated differences in socio-behavioural phenotypes. En ligne : http://dx.doi.org/10.1186/s13229-016-0084-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328