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

Persistence and predictors of self-injurious behaviour in autism: a ten-year prospective cohort study / Catherine LAVERTY in Molecular Autism, 11 (2020)  

Public ISBD [article]  inMolecular Autism > 11 (2020) . - 8 p. Titre : Persistence and predictors of self-injurious behaviour in autism: a ten-year prospective cohort study Type de document : Texte imprimé et/ou numérique Auteurs : Catherine LAVERTY, Auteur ; Chris OLIVER, Auteur ; Jo MOSS, Auteur ; Lisa NELSON, Auteur ; Caroline RICHARDS, Auteur Article en page(s) : 8 p. Langues : Anglais (eng) Mots-clés : Autism  Impulsivity  Prevalence  Risk marker  Self-injury  Self-restraint Index. décimale : PER Périodiques Résumé : BACKGROUND: Self-injurious behaviours, such as head banging, hair pulling, skin picking and scratching, are common in individuals with autism. Despite high prevalence rates, there is a paucity of longitudinal research to refine models of risk and mechanism and inform service planning. In this longitudinal study, we investigated self-injury in a cohort of individuals with autism over 10?years to identify behavioural and demographic characteristics associated with persistent self-injury. METHODS: Carers of 67 individuals with autism completed questionnaires relating to the presence of self-injury and relevant risk markers at T (1) (mean [SD] age in years 13.4 [7.7]) and T (3) (mean [SD] age in years 23.9 [7.7]) 10?years later. Forty-six of these also took part at T (2) (3?years after initial participation). Analysis assessed demographic and behavioural risk markers for self-injury, as well as the predictive value of items assessed at T (1)and T (2.) RESULTS: Self-injury was persistent in 44% of individuals over the 10-year period, with behavioural characteristics of impulsivity (p < .001) and overactivity (p = .002), identified as risk markers for persistence. A predictive model of self-injury was derived from LASSO analysis, with baseline impulsivity, interest and pleasure, stereotyped behaviour, social communication and adaptive functioning predicting self-injury over 10?years. CONCLUSIONS: In this unique longitudinal investigation into the persistence of self-injury in a non-clinical sample of individuals with autism over a 10?year period, we have identified a novel, robust and stable profile of behavioural characteristics associated with persistent self-injury. Findings support an early intervention strategy targeted towards individuals identified to be at a higher risk of developing self-injurious behaviour. En ligne : http://dx.doi.org/10.1186/s13229-019-0307-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427 [article] Persistence and predictors of self-injurious behaviour in autism: a ten-year prospective cohort study [Texte imprimé et/ou numérique] / Catherine LAVERTY, Auteur ; Chris OLIVER, Auteur ; Jo MOSS, Auteur ; Lisa NELSON, Auteur ; Caroline RICHARDS, Auteur . - 8 p. Langues : Anglais (eng) in Molecular Autism > 11 (2020) . - 8 p. Mots-clés : Autism  Impulsivity  Prevalence  Risk marker  Self-injury  Self-restraint Index. décimale : PER Périodiques Résumé : BACKGROUND: Self-injurious behaviours, such as head banging, hair pulling, skin picking and scratching, are common in individuals with autism. Despite high prevalence rates, there is a paucity of longitudinal research to refine models of risk and mechanism and inform service planning. In this longitudinal study, we investigated self-injury in a cohort of individuals with autism over 10?years to identify behavioural and demographic characteristics associated with persistent self-injury. METHODS: Carers of 67 individuals with autism completed questionnaires relating to the presence of self-injury and relevant risk markers at T (1) (mean [SD] age in years 13.4 [7.7]) and T (3) (mean [SD] age in years 23.9 [7.7]) 10?years later. Forty-six of these also took part at T (2) (3?years after initial participation). Analysis assessed demographic and behavioural risk markers for self-injury, as well as the predictive value of items assessed at T (1)and T (2.) RESULTS: Self-injury was persistent in 44% of individuals over the 10-year period, with behavioural characteristics of impulsivity (p < .001) and overactivity (p = .002), identified as risk markers for persistence. A predictive model of self-injury was derived from LASSO analysis, with baseline impulsivity, interest and pleasure, stereotyped behaviour, social communication and adaptive functioning predicting self-injury over 10?years. CONCLUSIONS: In this unique longitudinal investigation into the persistence of self-injury in a non-clinical sample of individuals with autism over a 10?year period, we have identified a novel, robust and stable profile of behavioural characteristics associated with persistent self-injury. Findings support an early intervention strategy targeted towards individuals identified to be at a higher risk of developing self-injurious behaviour. En ligne : http://dx.doi.org/10.1186/s13229-019-0307-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427

Prevalence of autism spectrum disorder symptomatology and related behavioural characteristics in individuals with Down syndrome / Jo MOSS in Autism, 17-4 (July 2013)  

Public ISBD [article]  inAutism > 17-4 (July 2013) . - p.390-404 Titre : Prevalence of autism spectrum disorder symptomatology and related behavioural characteristics in individuals with Down syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Jo MOSS, Auteur ; Caroline RICHARDS, Auteur ; Lisa NELSON, Auteur ; Chris OLIVER, Auteur Article en page(s) : p.390-404 Langues : Anglais (eng) Mots-clés : Down syndrome  autism spectrum disorder  repetitive behaviour  challenging behaviour  mood  behavioural phenotype Index. décimale : PER Périodiques Résumé : We evaluated the proportion of individuals with Down syndrome (DS: N = 108) who met criteria for autism spectrum disorder (ASD) on the Social Communication Questionnaire and the severity of ASD-related symptomatology in this group. The proportions of individuals with DS meeting the cut-off for ASD and autism in this sample were 19% and 8%, respectively. We then evaluated the behavioural profile of individuals with DS who scored above cut-off for ASD (DS+ASD; N = 17) compared with those with DS-only (N = 17) and individuals with idiopathic ASD (N = 17), matched for adaptive behaviour skills and ASD symptom severity (ASD group only). Individuals in the DS+ASD and ASD-only groups showed more stereotyped behaviour, repetitive language, overactivity and self-injury than the DS-only group (p .001). Individuals in the DS+ASD and DS-only groups appeared less withdrawn from their surroundings than those with ASD (p .004). These findings indicate differences in the behavioural and cognitive profile of individuals with DS+ASD compared with those with DS-only, when controlling for adaptive behaviour skills. Individuals with DS+ASD show broad similarities with individuals with idiopathic ASD with regard to ASD and behavioural characteristics but may also show some areas of subtle difference from this group. En ligne : http://dx.doi.org/10.1177/1362361312442790 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=206 [article] Prevalence of autism spectrum disorder symptomatology and related behavioural characteristics in individuals with Down syndrome [Texte imprimé et/ou numérique] / Jo MOSS, Auteur ; Caroline RICHARDS, Auteur ; Lisa NELSON, Auteur ; Chris OLIVER, Auteur . - p.390-404. Langues : Anglais (eng) in Autism > 17-4 (July 2013) . - p.390-404 Mots-clés : Down syndrome  autism spectrum disorder  repetitive behaviour  challenging behaviour  mood  behavioural phenotype Index. décimale : PER Périodiques Résumé : We evaluated the proportion of individuals with Down syndrome (DS: N = 108) who met criteria for autism spectrum disorder (ASD) on the Social Communication Questionnaire and the severity of ASD-related symptomatology in this group. The proportions of individuals with DS meeting the cut-off for ASD and autism in this sample were 19% and 8%, respectively. We then evaluated the behavioural profile of individuals with DS who scored above cut-off for ASD (DS+ASD; N = 17) compared with those with DS-only (N = 17) and individuals with idiopathic ASD (N = 17), matched for adaptive behaviour skills and ASD symptom severity (ASD group only). Individuals in the DS+ASD and ASD-only groups showed more stereotyped behaviour, repetitive language, overactivity and self-injury than the DS-only group (p .001). Individuals in the DS+ASD and DS-only groups appeared less withdrawn from their surroundings than those with ASD (p .004). These findings indicate differences in the behavioural and cognitive profile of individuals with DS+ASD compared with those with DS-only, when controlling for adaptive behaviour skills. Individuals with DS+ASD show broad similarities with individuals with idiopathic ASD with regard to ASD and behavioural characteristics but may also show some areas of subtle difference from this group. En ligne : http://dx.doi.org/10.1177/1362361312442790 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=206

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

Repetitive Behavior in Rubinstein–Taybi Syndrome: Parallels with Autism Spectrum Phenomenology / Jane WAITE in Journal of Autism and Developmental Disorders, 45-5 (May 2015)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 45-5 (May 2015) . - p.1238-1253 Titre : Repetitive Behavior in Rubinstein–Taybi Syndrome: Parallels with Autism Spectrum Phenomenology Type de document : Texte imprimé et/ou numérique Auteurs : Jane WAITE, Auteur ; Joanna MOSS, Auteur ; Sarah R. BECK, Auteur ; Caroline RICHARDS, Auteur ; Lisa NELSON, Auteur ; Kate ARRON, Auteur ; Cheryl BURBIDGE, Auteur ; Katy BERG, Auteur ; Chris OLIVER, Auteur Article en page(s) : p.1238-1253 Langues : Anglais (eng) Mots-clés : Rubinstein–Taybi syndrome  Autism spectrum disorder (ASD)  Repetitive behavior  Ritualistic behavior Index. décimale : PER Périodiques Résumé : Syndrome specific repetitive behavior profiles have been described previously. A detailed profile is absent for Rubinstein–Taybi syndrome (RTS). The Repetitive Behaviour Questionnaire and Social Communication Questionnaire were completed for children and adults with RTS (N = 87), Fragile-X (N = 196) and Down (N = 132) syndromes, and individuals reaching cut-off for autism spectrum disorder (N = 228). Total and matched group analyses were conducted. A phenotypic profile of repetitive behavior was found in RTS. The majority of behaviors in RTS were not associated with social-communication deficits or degree of disability. Repetitive behavior should be studied at a fine-grained level. A dissociation of the triad of impairments might be evident in RTS. En ligne : http://dx.doi.org/10.1007/s10803-014-2283-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=259 [article] Repetitive Behavior in Rubinstein–Taybi Syndrome: Parallels with Autism Spectrum Phenomenology [Texte imprimé et/ou numérique] / Jane WAITE, Auteur ; Joanna MOSS, Auteur ; Sarah R. BECK, Auteur ; Caroline RICHARDS, Auteur ; Lisa NELSON, Auteur ; Kate ARRON, Auteur ; Cheryl BURBIDGE, Auteur ; Katy BERG, Auteur ; Chris OLIVER, Auteur . - p.1238-1253. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 45-5 (May 2015) . - p.1238-1253 Mots-clés : Rubinstein–Taybi syndrome  Autism spectrum disorder (ASD)  Repetitive behavior  Ritualistic behavior Index. décimale : PER Périodiques Résumé : Syndrome specific repetitive behavior profiles have been described previously. A detailed profile is absent for Rubinstein–Taybi syndrome (RTS). The Repetitive Behaviour Questionnaire and Social Communication Questionnaire were completed for children and adults with RTS (N = 87), Fragile-X (N = 196) and Down (N = 132) syndromes, and individuals reaching cut-off for autism spectrum disorder (N = 228). Total and matched group analyses were conducted. A phenotypic profile of repetitive behavior was found in RTS. The majority of behaviors in RTS were not associated with social-communication deficits or degree of disability. Repetitive behavior should be studied at a fine-grained level. A dissociation of the triad of impairments might be evident in RTS. En ligne : http://dx.doi.org/10.1007/s10803-014-2283-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=259

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