Autism Characteristics and Behavioural Disturbances in ??500 Children with Down's Syndrome in England and Wales / Georgina WARNER in Autism Research, 7-4 (August 2014)  

Public ISBD [article]  inAutism Research > 7-4 (August 2014) . - p.433-441 Titre : Autism Characteristics and Behavioural Disturbances in ??500 Children with Down's Syndrome in England and Wales Type de document : Texte imprimé et/ou numérique Auteurs : Georgina WARNER, Auteur ; Joanna MOSS, Auteur ; Patrick SMITH, Auteur ; Patricia HOWLIN, Auteur Année de publication : 2014 Article en page(s) : p.433-441 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  Down's syndrome  social communication questionnaire  strengths and difficulties questionnaire Index. décimale : PER Périodiques Résumé : Recent research shows that a significant minority of children with Down's syndrome (DS) also meet diagnostic criteria for an autism spectrum disorder (ASD). The present study investigated what proportion of children aged 6–15 years with a confirmed diagnosis of DS in England and Wales display autistic-type behaviours, and explored the characteristics of this group of children. The Social Communication Questionnaire (SCQ) was used to screen for autism characteristics and the Strengths and Difficulties Questionnaire (SDQ) to explore behavioural difficulties. The proportion of children who met the cut-off score for ASD on the SCQ (total score ??15) was 37.7% (95% CI: 33.4–42.0%); for autism (total score ??22) the proportion was 16.5% (95% CI: 13.2–19.8%). Children who met the cut-off for ASD were significantly more likely to be reported as having emotional symptoms, conduct problems and hyperactivity on the SDQ than children who scored well below cut-off (total score ?10). However, the profile of their autism characteristics on the SCQ was atypical compared with individuals with idiopathic ASD. The pervasiveness of ASD in children with DS in England and Wales is substantially higher than in the general population. These children also experience significantly greater behavioural problems than children with DS only. Early detection of autism characteristics is important for appropriate intervention. However, the unusual profile of autism characteristics in this group may affect the recognition of the disorder and hinder the implementation of appropriate interventions. En ligne : http://dx.doi.org/10.1002/aur.1371 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=238 [article] Autism Characteristics and Behavioural Disturbances in ??500 Children with Down's Syndrome in England and Wales [Texte imprimé et/ou numérique] / Georgina WARNER, Auteur ; Joanna MOSS, Auteur ; Patrick SMITH, Auteur ; Patricia HOWLIN, Auteur . - 2014 . - p.433-441. Langues : Anglais (eng) in Autism Research > 7-4 (August 2014) . - p.433-441 Mots-clés : autism spectrum disorder  Down's syndrome  social communication questionnaire  strengths and difficulties questionnaire Index. décimale : PER Périodiques Résumé : Recent research shows that a significant minority of children with Down's syndrome (DS) also meet diagnostic criteria for an autism spectrum disorder (ASD). The present study investigated what proportion of children aged 6–15 years with a confirmed diagnosis of DS in England and Wales display autistic-type behaviours, and explored the characteristics of this group of children. The Social Communication Questionnaire (SCQ) was used to screen for autism characteristics and the Strengths and Difficulties Questionnaire (SDQ) to explore behavioural difficulties. The proportion of children who met the cut-off score for ASD on the SCQ (total score ??15) was 37.7% (95% CI: 33.4–42.0%); for autism (total score ??22) the proportion was 16.5% (95% CI: 13.2–19.8%). Children who met the cut-off for ASD were significantly more likely to be reported as having emotional symptoms, conduct problems and hyperactivity on the SDQ than children who scored well below cut-off (total score ?10). However, the profile of their autism characteristics on the SCQ was atypical compared with individuals with idiopathic ASD. The pervasiveness of ASD in children with DS in England and Wales is substantially higher than in the general population. These children also experience significantly greater behavioural problems than children with DS only. Early detection of autism characteristics is important for appropriate intervention. However, the unusual profile of autism characteristics in this group may affect the recognition of the disorder and hinder the implementation of appropriate interventions. En ligne : http://dx.doi.org/10.1002/aur.1371 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=238

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

Patterns of change in children with Autism Spectrum Disorders who received community based comprehensive interventions in their pre-school years: A seven year follow-up study / Iliana MAGIATI in Research in Autism Spectrum Disorders, 5-3 (July-September 2011)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 5-3 (July-September 2011) . - p.1016-1027 Titre : Patterns of change in children with Autism Spectrum Disorders who received community based comprehensive interventions in their pre-school years: A seven year follow-up study Type de document : Texte imprimé et/ou numérique Auteurs : Iliana MAGIATI, Auteur ; Joanna MOSS, Auteur ; Tony CHARMAN, Auteur ; Patricia HOWLIN, Auteur Année de publication : 2011 Article en page(s) : p.1016-1027 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  Intervention  Longitudinal  Follow-up Index. décimale : PER Périodiques Résumé : There are few long-term follow-up studies of children with Autism Spectrum Disorders (ASD) who attended intensive intervention programmes in their pre-school years. Thirty-six children with ASD enrolled in relatively intensive, specialist pre-school programmes (minimum of 15 h intervention per week for 2 years at a mean age of 3.4 years) were assessed after 2 years (mean age 5.5 years) and again after a further 5 years (mean age 10.3 years). Cognitive, language and adaptive behaviour skills and severity of autism symptoms were assessed at intake (Time 1) and subsequent follow-ups (Times 2 and 3). Children made significant increases in raw and age equivalent scores in most areas of development assessed, although mean standard scores remained stable or decreased over time. Time 1 IQ, language and adaptive behaviour skills were predictive of outcome at Time 3. Although there were marked individual differences in the rate and patterns of change over time, many children continued to show increases in test scores over the course of the study. This study highlights that whilst overall group improvements may be evident, the rate and nature of these improvements is highly variable across individual children. Further investigation of the specific child characteristics that affect treatment effectiveness is required. En ligne : http://dx.doi.org/10.1016/j.rasd.2010.11.007 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=118 [article] Patterns of change in children with Autism Spectrum Disorders who received community based comprehensive interventions in their pre-school years: A seven year follow-up study [Texte imprimé et/ou numérique] / Iliana MAGIATI, Auteur ; Joanna MOSS, Auteur ; Tony CHARMAN, Auteur ; Patricia HOWLIN, Auteur . - 2011 . - p.1016-1027. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 5-3 (July-September 2011) . - p.1016-1027 Mots-clés : Autism Spectrum Disorder  Intervention  Longitudinal  Follow-up Index. décimale : PER Périodiques Résumé : There are few long-term follow-up studies of children with Autism Spectrum Disorders (ASD) who attended intensive intervention programmes in their pre-school years. Thirty-six children with ASD enrolled in relatively intensive, specialist pre-school programmes (minimum of 15 h intervention per week for 2 years at a mean age of 3.4 years) were assessed after 2 years (mean age 5.5 years) and again after a further 5 years (mean age 10.3 years). Cognitive, language and adaptive behaviour skills and severity of autism symptoms were assessed at intake (Time 1) and subsequent follow-ups (Times 2 and 3). Children made significant increases in raw and age equivalent scores in most areas of development assessed, although mean standard scores remained stable or decreased over time. Time 1 IQ, language and adaptive behaviour skills were predictive of outcome at Time 3. Although there were marked individual differences in the rate and patterns of change over time, many children continued to show increases in test scores over the course of the study. This study highlights that whilst overall group improvements may be evident, the rate and nature of these improvements is highly variable across individual children. Further investigation of the specific child characteristics that affect treatment effectiveness is required. En ligne : http://dx.doi.org/10.1016/j.rasd.2010.11.007 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=118

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

The Prevalence and Phenomenology of Repetitive Behavior in Genetic Syndromes / Joanna MOSS in Journal of Autism and Developmental Disorders, 39-4 (April 2009)  

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