Dissociation of Cross-Sectional Trajectories for Verbal and Visuo-Spatial Working Memory Development in Rubinstein-Taybi Syndrome / Jane WAITE in Journal of Autism and Developmental Disorders, 46-6 (June 2016)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 46-6 (June 2016) . - p.2064-2071 Titre : Dissociation of Cross-Sectional Trajectories for Verbal and Visuo-Spatial Working Memory Development in Rubinstein-Taybi Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Jane WAITE, Auteur ; Sarah R. BECK, Auteur ; Mary HEALD, Auteur ; Laurie POWIS, Auteur ; Chris OLIVER, Auteur Article en page(s) : p.2064-2071 Langues : Anglais (eng) Mots-clés : Working memory  Short-term memory  Rubinstein–Taybi syndrome  Typically developing children  Dissociation Index. décimale : PER Périodiques Résumé : Working memory (WM) impairments might amplify behavioural difference in genetic syndromes. Murine models of Rubinstein–Taybi syndrome (RTS) evidence memory impairments but there is limited research on memory in RTS. Individuals with RTS and typically developing children completed WM tasks, with participants with RTS completing an IQ assessment and parents/carers completing the Vineland Adaptive Behavior Scales. A cross-sectional trajectory analysis was conducted. There were significant WM span deficits in RTS relative to mental age. Verbal WM span was positively associated with mental age; however, this was not observed for visuo-spatial span. There is a dissociation between WM domains in RTS. Individuals may have difficulties with tasks relying on WM span, above difficulties predicted by overall ability. En ligne : http://dx.doi.org/10.1007/s10803-016-2736-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=288 [article] Dissociation of Cross-Sectional Trajectories for Verbal and Visuo-Spatial Working Memory Development in Rubinstein-Taybi Syndrome [Texte imprimé et/ou numérique] / Jane WAITE, Auteur ; Sarah R. BECK, Auteur ; Mary HEALD, Auteur ; Laurie POWIS, Auteur ; Chris OLIVER, Auteur . - p.2064-2071. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 46-6 (June 2016) . - p.2064-2071 Mots-clés : Working memory  Short-term memory  Rubinstein–Taybi syndrome  Typically developing children  Dissociation Index. décimale : PER Périodiques Résumé : Working memory (WM) impairments might amplify behavioural difference in genetic syndromes. Murine models of Rubinstein–Taybi syndrome (RTS) evidence memory impairments but there is limited research on memory in RTS. Individuals with RTS and typically developing children completed WM tasks, with participants with RTS completing an IQ assessment and parents/carers completing the Vineland Adaptive Behavior Scales. A cross-sectional trajectory analysis was conducted. There were significant WM span deficits in RTS relative to mental age. Verbal WM span was positively associated with mental age; however, this was not observed for visuo-spatial span. There is a dissociation between WM domains in RTS. Individuals may have difficulties with tasks relying on WM span, above difficulties predicted by overall ability. En ligne : http://dx.doi.org/10.1007/s10803-016-2736-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=288

Profiles of autism characteristics in thirteen genetic syndromes: a machine learning approach / Alice WELHAM ; Dawn ADAMS ; Stacey BISSELL ; Hilgo BRUINING ; Hayley CRAWFORD ; Kate EDEN ; Lisa NELSON ; Christopher OLIVER ; Laurie POWIS ; Caroline RICHARDS ; Jane WAITE ; Peter WATSON ; Hefin RHYS ; Lucy WILDE ; Kate WOODCOCK ; Joanna MOSS in Molecular Autism, 14 (2023)  

Public ISBD [article]  inMolecular Autism > 14 (2023) . - 3 p. Titre : Profiles of autism characteristics in thirteen genetic syndromes: a machine learning approach Type de document : Texte imprimé et/ou numérique Auteurs : Alice WELHAM, Auteur ; Dawn ADAMS, Auteur ; Stacey BISSELL, Auteur ; Hilgo BRUINING, Auteur ; Hayley CRAWFORD, Auteur ; Kate EDEN, Auteur ; Lisa NELSON, Auteur ; Christopher OLIVER, Auteur ; Laurie POWIS, Auteur ; Caroline RICHARDS, Auteur ; Jane WAITE, Auteur ; Peter WATSON, Auteur ; Hefin RHYS, Auteur ; Lucy WILDE, Auteur ; Kate WOODCOCK, Auteur ; Joanna MOSS, Auteur Article en page(s) : 3 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: Phenotypic studies have identified distinct patterns of autistic characteristics in genetic syndromes associated with intellectual disability (ID), leading to diagnostic uncertainty and compromised access to autism-related support. Previous research has tended to include small samples and diverse measures, which limits the generalisability of findings. In this study, we generated detailed profiles of autistic characteristics in a large sample of>1500 individuals with rare genetic syndromes. METHODS: Profiles of autistic characteristics based on the Social Communication Questionnaire (SCQ) scores were generated for thirteen genetic syndrome groups (Angelman n=154, Cri du Chat n=75, Cornelia de Lange n=199, fragile X n=297, Prader-Willi n=278, Lowe n=89, Smith-Magenis n=54, Down n=135, Sotos n=40, Rubinstein-Taybi n=102, 1p36 deletion n=41, tuberous sclerosis complex n=83 and Phelan-McDermid n=35 syndromes). It was hypothesised that each syndrome group would evidence a degree of specificity in autistic characteristics. To test this hypothesis, a classification algorithm via support vector machine (SVM) learning was applied to scores from over 1500 individuals diagnosed with one of the thirteen genetic syndromes and autistic individuals who did not have a known genetic syndrome (ASD; n=254). Self-help skills were included as an additional predictor. RESULTS: Genetic syndromes were associated with different but overlapping autism-related profiles, indicated by the substantial accuracy of the entire, multiclass SVM model (55% correctly classified individuals). Syndrome groups such as Angelman, fragile X, Prader-Willi, Rubinstein-Taybi and Cornelia de Lange showed greater phenotypic specificity than groups such as Cri du Chat, Lowe, Smith-Magenis, tuberous sclerosis complex, Sotos and Phelan-McDermid. The inclusion of the ASD reference group and self-help skills did not change the model accuracy. LIMITATIONS: The key limitations of our study include a cross-sectional design, reliance on a screening tool which focuses primarily on social communication skills and imbalanced sample size across syndrome groups. CONCLUSIONS: These findings replicate and extend previous work, demonstrating syndrome-specific profiles of autistic characteristics in people with genetic syndromes compared to autistic individuals without a genetic syndrome. This work calls for greater precision of assessment of autistic characteristics in individuals with genetic syndromes associated with ID. En ligne : http://dx.doi.org/10.1186/s13229-022-00530-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513 [article] Profiles of autism characteristics in thirteen genetic syndromes: a machine learning approach [Texte imprimé et/ou numérique] / Alice WELHAM, Auteur ; Dawn ADAMS, Auteur ; Stacey BISSELL, Auteur ; Hilgo BRUINING, Auteur ; Hayley CRAWFORD, Auteur ; Kate EDEN, Auteur ; Lisa NELSON, Auteur ; Christopher OLIVER, Auteur ; Laurie POWIS, Auteur ; Caroline RICHARDS, Auteur ; Jane WAITE, Auteur ; Peter WATSON, Auteur ; Hefin RHYS, Auteur ; Lucy WILDE, Auteur ; Kate WOODCOCK, Auteur ; Joanna MOSS, Auteur . - 3 p. Langues : Anglais (eng) in Molecular Autism > 14 (2023) . - 3 p. Index. décimale : PER Périodiques Résumé : BACKGROUND: Phenotypic studies have identified distinct patterns of autistic characteristics in genetic syndromes associated with intellectual disability (ID), leading to diagnostic uncertainty and compromised access to autism-related support. Previous research has tended to include small samples and diverse measures, which limits the generalisability of findings. In this study, we generated detailed profiles of autistic characteristics in a large sample of>1500 individuals with rare genetic syndromes. METHODS: Profiles of autistic characteristics based on the Social Communication Questionnaire (SCQ) scores were generated for thirteen genetic syndrome groups (Angelman n=154, Cri du Chat n=75, Cornelia de Lange n=199, fragile X n=297, Prader-Willi n=278, Lowe n=89, Smith-Magenis n=54, Down n=135, Sotos n=40, Rubinstein-Taybi n=102, 1p36 deletion n=41, tuberous sclerosis complex n=83 and Phelan-McDermid n=35 syndromes). It was hypothesised that each syndrome group would evidence a degree of specificity in autistic characteristics. To test this hypothesis, a classification algorithm via support vector machine (SVM) learning was applied to scores from over 1500 individuals diagnosed with one of the thirteen genetic syndromes and autistic individuals who did not have a known genetic syndrome (ASD; n=254). Self-help skills were included as an additional predictor. RESULTS: Genetic syndromes were associated with different but overlapping autism-related profiles, indicated by the substantial accuracy of the entire, multiclass SVM model (55% correctly classified individuals). Syndrome groups such as Angelman, fragile X, Prader-Willi, Rubinstein-Taybi and Cornelia de Lange showed greater phenotypic specificity than groups such as Cri du Chat, Lowe, Smith-Magenis, tuberous sclerosis complex, Sotos and Phelan-McDermid. The inclusion of the ASD reference group and self-help skills did not change the model accuracy. LIMITATIONS: The key limitations of our study include a cross-sectional design, reliance on a screening tool which focuses primarily on social communication skills and imbalanced sample size across syndrome groups. CONCLUSIONS: These findings replicate and extend previous work, demonstrating syndrome-specific profiles of autistic characteristics in people with genetic syndromes compared to autistic individuals without a genetic syndrome. This work calls for greater precision of assessment of autistic characteristics in individuals with genetic syndromes associated with ID. En ligne : http://dx.doi.org/10.1186/s13229-022-00530-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513

Scaling of Early Social Cognitive Skills in Typically Developing Infants and Children with Autism Spectrum Disorder / Katherine ELLIS in Journal of Autism and Developmental Disorders, 50-11 (November 2020)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 50-11 (November 2020) . - p.3988-4000 Titre : Scaling of Early Social Cognitive Skills in Typically Developing Infants and Children with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Katherine ELLIS, Auteur ; Philippa LEWINGTON, Auteur ; Laurie POWIS, Auteur ; Chris OLIVER, Auteur ; Jane WAITE, Auteur ; Mary HEALD, Auteur ; Ian APPERLY, Auteur ; Priya SANDHU, Auteur ; Hayley CRAWFORD, Auteur Article en page(s) : p.3988-4000 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Precursors  Social cognition  Theory of mind Index. décimale : PER Périodiques Résumé : We delineate the sequence that typically developing infants pass tasks that assess different early social cognitive skills considered precursors to theory-of-mind abilities. We compared this normative sequence to performance on these tasks in a group of autistic (AUT) children. 86 infants were administered seven tasks assessing intention reading and shared intentionality (Study 1). Infants responses followed a consistent developmental sequence, forming a four-stage scale. These tasks were administered to 21 AUT children (Study 2), who passed tasks in the same sequence. However, performance on tasks that required following others' eye gaze and cooperating with others was delayed. Findings indicate that earlier-developing skills provide a foundation for later-developing skills, and difficulties in acquiring some early social cognitive skills in AUT children. En ligne : http://dx.doi.org/10.1007/s10803-020-04449-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=432 [article] Scaling of Early Social Cognitive Skills in Typically Developing Infants and Children with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Katherine ELLIS, Auteur ; Philippa LEWINGTON, Auteur ; Laurie POWIS, Auteur ; Chris OLIVER, Auteur ; Jane WAITE, Auteur ; Mary HEALD, Auteur ; Ian APPERLY, Auteur ; Priya SANDHU, Auteur ; Hayley CRAWFORD, Auteur . - p.3988-4000. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 50-11 (November 2020) . - p.3988-4000 Mots-clés : Autism spectrum disorder  Precursors  Social cognition  Theory of mind Index. décimale : PER Périodiques Résumé : We delineate the sequence that typically developing infants pass tasks that assess different early social cognitive skills considered precursors to theory-of-mind abilities. We compared this normative sequence to performance on these tasks in a group of autistic (AUT) children. 86 infants were administered seven tasks assessing intention reading and shared intentionality (Study 1). Infants responses followed a consistent developmental sequence, forming a four-stage scale. These tasks were administered to 21 AUT children (Study 2), who passed tasks in the same sequence. However, performance on tasks that required following others' eye gaze and cooperating with others was delayed. Findings indicate that earlier-developing skills provide a foundation for later-developing skills, and difficulties in acquiring some early social cognitive skills in AUT children. En ligne : http://dx.doi.org/10.1007/s10803-020-04449-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=432

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