Brief Report: Contrasting Profiles of Everyday Executive Functioning in Smith–Magenis Syndrome and Down Syndrome / Lucy WILDE in Journal of Autism and Developmental Disorders, 47-8 (August 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-8 (August 2017) . - p.2602-2609 Titre : Brief Report: Contrasting Profiles of Everyday Executive Functioning in Smith–Magenis Syndrome and Down Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Lucy WILDE, Auteur ; Chris OLIVER, Auteur Article en page(s) : p.2602-2609 Langues : Anglais (eng) Mots-clés : Executive function  BRIEF-P  Smith–Magenis syndrome  Down syndrome Index. décimale : PER Périodiques Résumé : Everyday executive function (EF) was examined in Smith–Magenis syndrome (SMS), associated with high risk of behaviour disorder, and Down syndrome (DS), associated with relatively low risk of behaviour disorder. Caregivers of 13 children with SMS and 17 with DS rated everyday EF using the Behavioral Rating Inventory of Executive Functioning-Preschool. Greater everyday EF deficits relative to adaptive ability were evident in SMS than in DS. The SMS profile of everyday EF abilities was relatively uniform; in DS emotional control strengths and working memory weaknesses were evident. Findings implicate broad everyday EF difficulties in SMS compared to DS, corresponding with increased rates of behaviour disorder in SMS. Findings further suggest that everyday EF profiles may, in part, be syndrome related. En ligne : https://doi.org/10.1007/s10803-017-3140-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=315 [article] Brief Report: Contrasting Profiles of Everyday Executive Functioning in Smith–Magenis Syndrome and Down Syndrome [Texte imprimé et/ou numérique] / Lucy WILDE, Auteur ; Chris OLIVER, Auteur . - p.2602-2609. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-8 (August 2017) . - p.2602-2609 Mots-clés : Executive function  BRIEF-P  Smith–Magenis syndrome  Down syndrome Index. décimale : PER Périodiques Résumé : Everyday executive function (EF) was examined in Smith–Magenis syndrome (SMS), associated with high risk of behaviour disorder, and Down syndrome (DS), associated with relatively low risk of behaviour disorder. Caregivers of 13 children with SMS and 17 with DS rated everyday EF using the Behavioral Rating Inventory of Executive Functioning-Preschool. Greater everyday EF deficits relative to adaptive ability were evident in SMS than in DS. The SMS profile of everyday EF abilities was relatively uniform; in DS emotional control strengths and working memory weaknesses were evident. Findings implicate broad everyday EF difficulties in SMS compared to DS, corresponding with increased rates of behaviour disorder in SMS. Findings further suggest that everyday EF profiles may, in part, be syndrome related. En ligne : https://doi.org/10.1007/s10803-017-3140-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=315

Differences in Social Motivation in Children with Smith–Magenis Syndrome and Down Syndrome / Lucy WILDE 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.2148-2159 Titre : Differences in Social Motivation in Children with Smith–Magenis Syndrome and Down Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Lucy WILDE, Auteur ; Anna MITCHELL, Auteur ; Chris OLIVER, Auteur Article en page(s) : p.2148-2159 Langues : Anglais (eng) Mots-clés : Social motivation  Neurodevelopmental disorder  Smith–Magenis syndrome  Down syndrome Index. décimale : PER Périodiques Résumé : Social excesses, characterised by heightened social motivation, are important for describing social functioning. Smith–Magenis syndrome (SMS) is a potential exemplar of a disorder where heightened social motivation is associated with negative behavioural outcomes. In Down syndrome (DS) strong social motivation is described, but less commonly associated with behavioural problems. Children with SMS (n = 21) and DS (n = 19) were observed during social situations, in which familiarity of adults present and level of attention available were manipulated. Motivation in SMS was characterised by comparatively frequent social initiations when adult attention was low, and stronger preference for familiar adults, compared to DS. Findings provide insight into the nature of social motivation in SMS and support an argument for nuanced consideration of motivation. En ligne : http://dx.doi.org/10.1007/s10803-016-2743-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=289 [article] Differences in Social Motivation in Children with Smith–Magenis Syndrome and Down Syndrome [Texte imprimé et/ou numérique] / Lucy WILDE, Auteur ; Anna MITCHELL, Auteur ; Chris OLIVER, Auteur . - p.2148-2159. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 46-6 (June 2016) . - p.2148-2159 Mots-clés : Social motivation  Neurodevelopmental disorder  Smith–Magenis syndrome  Down syndrome Index. décimale : PER Périodiques Résumé : Social excesses, characterised by heightened social motivation, are important for describing social functioning. Smith–Magenis syndrome (SMS) is a potential exemplar of a disorder where heightened social motivation is associated with negative behavioural outcomes. In Down syndrome (DS) strong social motivation is described, but less commonly associated with behavioural problems. Children with SMS (n = 21) and DS (n = 19) were observed during social situations, in which familiarity of adults present and level of attention available were manipulated. Motivation in SMS was characterised by comparatively frequent social initiations when adult attention was low, and stronger preference for familiar adults, compared to DS. Findings provide insight into the nature of social motivation in SMS and support an argument for nuanced consideration of motivation. En ligne : http://dx.doi.org/10.1007/s10803-016-2743-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=289

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

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