An experimental study of executive function and social impairment in Cornelia de Lange syndrome / L. NELSON in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.33 Titre : An experimental study of executive function and social impairment in Cornelia de Lange syndrome Type de document : Texte imprimé et/ou numérique Auteurs : L. NELSON, Auteur ; Hayley CRAWFORD, Auteur ; D. REID, Auteur ; J. MOSS, Auteur ; C. OLIVER, Auteur Article en page(s) : p.33 Langues : Anglais (eng) Mots-clés : Cornelia de Lange syndrome  Down syndrome  Executive function  Social anxiety Index. décimale : PER Périodiques Résumé : BACKGROUND: Extreme shyness and social anxiety is reported to be characteristic of adolescents and adults with Cornelia de Lange syndrome (CdLS); however, the nature of these characteristics is not well documented. In this study, we develop and apply an experimental assessment of social anxiety in a group of adolescents and adults with CdLS to determine the nature of the social difficulties and whether they are related to impairments in executive functioning. METHODS: A familiar and unfamiliar examiner separately engaged in socially demanding tasks comprising three experimental conditions with a group of individuals with CdLS (n = 25; % male = 44; mean age = 22.16; SD = 8.81) and a comparable group of individuals with Down syndrome (DS; n = 20; % male = 35; mean age = 24.35; SD = 5.97). Behaviours indicative of social anxiety were coded. The Behavior Rating Inventory of Executive Function-Preschool version, an informant measure of executive function, was completed by participants' caregivers. RESULTS: Significantly less verbalisation was observed in the CdLS group than the DS group in conditions requiring the initiation of speech. In the CdLS group, impairments in verbalisation were not associated with a greater degree of intellectual disability but were significantly correlated with impairments in both planning and working memory. This association was not evident in the DS group. CONCLUSIONS: Adolescents and adults with CdLS have a specific difficulty with the initiation of speech when social demands are placed upon them. This impairment in verbalisation may be underpinned by specific cognitive deficits, although further research is needed to investigate this fully. En ligne : http://dx.doi.org/10.1186/s11689-017-9213-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 [article] An experimental study of executive function and social impairment in Cornelia de Lange syndrome [Texte imprimé et/ou numérique] / L. NELSON, Auteur ; Hayley CRAWFORD, Auteur ; D. REID, Auteur ; J. MOSS, Auteur ; C. OLIVER, Auteur . - p.33. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.33 Mots-clés : Cornelia de Lange syndrome  Down syndrome  Executive function  Social anxiety Index. décimale : PER Périodiques Résumé : BACKGROUND: Extreme shyness and social anxiety is reported to be characteristic of adolescents and adults with Cornelia de Lange syndrome (CdLS); however, the nature of these characteristics is not well documented. In this study, we develop and apply an experimental assessment of social anxiety in a group of adolescents and adults with CdLS to determine the nature of the social difficulties and whether they are related to impairments in executive functioning. METHODS: A familiar and unfamiliar examiner separately engaged in socially demanding tasks comprising three experimental conditions with a group of individuals with CdLS (n = 25; % male = 44; mean age = 22.16; SD = 8.81) and a comparable group of individuals with Down syndrome (DS; n = 20; % male = 35; mean age = 24.35; SD = 5.97). Behaviours indicative of social anxiety were coded. The Behavior Rating Inventory of Executive Function-Preschool version, an informant measure of executive function, was completed by participants' caregivers. RESULTS: Significantly less verbalisation was observed in the CdLS group than the DS group in conditions requiring the initiation of speech. In the CdLS group, impairments in verbalisation were not associated with a greater degree of intellectual disability but were significantly correlated with impairments in both planning and working memory. This association was not evident in the DS group. CONCLUSIONS: Adolescents and adults with CdLS have a specific difficulty with the initiation of speech when social demands are placed upon them. This impairment in verbalisation may be underpinned by specific cognitive deficits, although further research is needed to investigate this fully. En ligne : http://dx.doi.org/10.1186/s11689-017-9213-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350

Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes / A. WATKINS in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 24 p. Titre : Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes Type de document : Texte imprimé et/ou numérique Auteurs : A. WATKINS, Auteur ; S. BISSELL, Auteur ; J. MOSS, Auteur ; C. OLIVER, Auteur ; J. CLAYTON-SMITH, Auteur ; L. HAYE, Auteur ; M. HEALD, Auteur ; A. WELHAM, Auteur Article en page(s) : 24 p. Langues : Anglais (eng) Mots-clés : Angelman syndrome  Autism spectrum disorder  Behavioural phenotype  Cornelia de Lange syndrome  Pitt-Hopkins syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Pitt-Hopkins syndrome (PTHS) is a genetic neurodevelopmental disorder associated with intellectual disability. Although the genetic mechanisms underlying the disorder have been identified, description of its behavioural phenotype is in its infancy. In this study, reported behavioural and psychological characteristics of individuals with PTHS were investigated in comparison with the reported behaviour of age-matched individuals with Angelman syndrome (AS) and Cornelia de Lange syndrome (CdLS). METHODS: Questionnaire data were collected from parents/caregivers of individuals with PTHS (n = 24), assessing behaviours associated with autism spectrum disorder (ASD), sociability, mood, repetitive behaviour, sensory processing, challenging behaviours and overactivity and impulsivity. For most measures, data were compared to data for people with AS (n = 24) and CdLS (n = 24) individually matched by adaptive ability, age and sex. RESULTS: Individuals with PTHS evidenced significantly higher levels of difficulties with social communication and reciprocal social interaction than individuals with AS, with 21 of 22 participants with PTHS meeting criteria indicative of ASD on a screening instrument. Individuals with PTHS were reported to be less sociable with familiar and unfamiliar people than individuals with AS, but more sociable with unfamiliar people than individuals with CdLS. Data also suggested areas of atypicality in sensory experiences. Challenging behaviours were reported frequently in PTHS, with self-injury (70.8%) occurring at significantly higher rates than in AS (41.7%) and aggression (54.2%) occurring at significantly higher rates than in CdLS (25%). Individuals with PTHS also evidenced lower reported mood than individuals with AS. CONCLUSIONS: Behaviours which may be characteristic of PTHS include those associated with ASD, including deficits in social communication and reciprocal social interaction. High rates of aggression and self-injurious behaviour compared to other genetic syndrome groups are of potential clinical significance and warrant further investigation. An atypical sensory profile may also be evident in PTHS. The specific aetiology of and relationships between different behavioural and psychological atypicalities in PTHS, and effective clinical management of these, present potential topics for future research. En ligne : https://dx.doi.org/10.1186/s11689-019-9282-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409 [article] Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes [Texte imprimé et/ou numérique] / A. WATKINS, Auteur ; S. BISSELL, Auteur ; J. MOSS, Auteur ; C. OLIVER, Auteur ; J. CLAYTON-SMITH, Auteur ; L. HAYE, Auteur ; M. HEALD, Auteur ; A. WELHAM, Auteur . - 24 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 24 p. Mots-clés : Angelman syndrome  Autism spectrum disorder  Behavioural phenotype  Cornelia de Lange syndrome  Pitt-Hopkins syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Pitt-Hopkins syndrome (PTHS) is a genetic neurodevelopmental disorder associated with intellectual disability. Although the genetic mechanisms underlying the disorder have been identified, description of its behavioural phenotype is in its infancy. In this study, reported behavioural and psychological characteristics of individuals with PTHS were investigated in comparison with the reported behaviour of age-matched individuals with Angelman syndrome (AS) and Cornelia de Lange syndrome (CdLS). METHODS: Questionnaire data were collected from parents/caregivers of individuals with PTHS (n = 24), assessing behaviours associated with autism spectrum disorder (ASD), sociability, mood, repetitive behaviour, sensory processing, challenging behaviours and overactivity and impulsivity. For most measures, data were compared to data for people with AS (n = 24) and CdLS (n = 24) individually matched by adaptive ability, age and sex. RESULTS: Individuals with PTHS evidenced significantly higher levels of difficulties with social communication and reciprocal social interaction than individuals with AS, with 21 of 22 participants with PTHS meeting criteria indicative of ASD on a screening instrument. Individuals with PTHS were reported to be less sociable with familiar and unfamiliar people than individuals with AS, but more sociable with unfamiliar people than individuals with CdLS. Data also suggested areas of atypicality in sensory experiences. Challenging behaviours were reported frequently in PTHS, with self-injury (70.8%) occurring at significantly higher rates than in AS (41.7%) and aggression (54.2%) occurring at significantly higher rates than in CdLS (25%). Individuals with PTHS also evidenced lower reported mood than individuals with AS. CONCLUSIONS: Behaviours which may be characteristic of PTHS include those associated with ASD, including deficits in social communication and reciprocal social interaction. High rates of aggression and self-injurious behaviour compared to other genetic syndrome groups are of potential clinical significance and warrant further investigation. An atypical sensory profile may also be evident in PTHS. The specific aetiology of and relationships between different behavioural and psychological atypicalities in PTHS, and effective clinical management of these, present potential topics for future research. En ligne : https://dx.doi.org/10.1186/s11689-019-9282-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409

Brief Report: Repetitive Behaviour Profiles in Williams syndrome: Cross Syndrome Comparisons with Prader-Willi and Down syndromes / R. ROYSTON in Journal of Autism and Developmental Disorders, 48-1 (January 2018)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 48-1 (January 2018) . - p.326-331 Titre : Brief Report: Repetitive Behaviour Profiles in Williams syndrome: Cross Syndrome Comparisons with Prader-Willi and Down syndromes Type de document : Texte imprimé et/ou numérique Auteurs : R. ROYSTON, Auteur ; C. OLIVER, Auteur ; J. MOSS, Auteur ; D. ADAMS, Auteur ; K. BERG, Auteur ; Cheryl BURBIDGE, Auteur ; P. HOWLIN, Auteur ; L. NELSON, Auteur ; C. STINTON, Auteur ; J. WAITE, Auteur Article en page(s) : p.326-331 Langues : Anglais (eng) Mots-clés : Down syndrome  Prader-Willi syndrome  Repetitive behaviour  Williams syndrome Index. décimale : PER Périodiques Résumé : This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were few group differences, although participants with Williams syndrome were more likely to show body stereotypies. Individuals with Williams syndrome also showed more hoarding and less tidying behaviours than those with Down syndrome. IQ and adaptive ability were negatively associated with repetitive questioning in people with Williams syndrome. The profile of repetitive behaviour amongst individuals with Williams syndrome was similar to the comparison syndromes. The cognitive mechanisms underlying these behaviours in genetic syndromes warrant further investigation. En ligne : https://doi.org/10.1007/s10803-017-3319-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=337 [article] Brief Report: Repetitive Behaviour Profiles in Williams syndrome: Cross Syndrome Comparisons with Prader-Willi and Down syndromes [Texte imprimé et/ou numérique] / R. ROYSTON, Auteur ; C. OLIVER, Auteur ; J. MOSS, Auteur ; D. ADAMS, Auteur ; K. BERG, Auteur ; Cheryl BURBIDGE, Auteur ; P. HOWLIN, Auteur ; L. NELSON, Auteur ; C. STINTON, Auteur ; J. WAITE, Auteur . - p.326-331. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 48-1 (January 2018) . - p.326-331 Mots-clés : Down syndrome  Prader-Willi syndrome  Repetitive behaviour  Williams syndrome Index. décimale : PER Périodiques Résumé : This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were few group differences, although participants with Williams syndrome were more likely to show body stereotypies. Individuals with Williams syndrome also showed more hoarding and less tidying behaviours than those with Down syndrome. IQ and adaptive ability were negatively associated with repetitive questioning in people with Williams syndrome. The profile of repetitive behaviour amongst individuals with Williams syndrome was similar to the comparison syndromes. The cognitive mechanisms underlying these behaviours in genetic syndromes warrant further investigation. En ligne : https://doi.org/10.1007/s10803-017-3319-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=337

Development, behaviour and autism in individuals with SMC1A variants / P. A. MULDER in Journal of Child Psychology and Psychiatry, 60-3 (March 2019)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 60-3 (March 2019) . - p.305-313 Titre : Development, behaviour and autism in individuals with SMC1A variants Type de document : Texte imprimé et/ou numérique Auteurs : P. A. MULDER, Auteur ; S. HUISMAN, Auteur ; A. M. LANDLUST, Auteur ; J. MOSS, Auteur ; S. PIENING, Auteur ; R. C. HENNEKAM, Auteur ; I. D. C. VAN BALKOM, Auteur Article en page(s) : p.305-313 Langues : Anglais (eng) Mots-clés : Behavioural phenotype  autism  cognition  cornelia de lange syndrome  rett syndrome  self-injurious behaviour Index. décimale : PER Périodiques Résumé : INTRODUCTION: Development and behaviour in Cornelia de Lange Syndrome (CdLS), including autism characteristics, have been described infrequently stratified to genetic cause and only a few studies have considered behavioural characteristics in relation to developmental level. Here, we describe the behavioural phenotype in individuals with CdLS with SMC1A variants. METHODS: We performed an international, interdisciplinary study on 51 individuals with SMC1A variants. Results of questionnaire studies are compared to those in individuals with Down Syndrome and with Autism Spectrum Disorder. Results on cognition and self-injurious behaviour (SIB) are compared to those in individuals with CdLS caused by NIPBL variants. For Dutch participants with SMC1A variants we performed direct in-person assessments of cognition, autism, and added an interview and questionnaire on adaptive behaviour and sensory processing. RESULTS: Individuals with SMC1A variants show a higher cognitive level and less SIB than individuals with NIPBL variants. Individuals with SMC1A variants without classic CdLS phenotype but with a Rett-like phenotype show more severe intellectual disability and more SIB compared to those with a CdLS phenotype. Autism is less present if outcomes in direct in-person assessments are evaluated taking developmental level into account compared to results based on a questionnaire. CONCLUSIONS: Behaviour in individuals with CdLS should be evaluated taking genetic cause into account. Detailed interdisciplinary approaches are of clinical importance to inform tailored care and may eventually improve quality of life of patients and families. En ligne : https://dx.doi.org/10.1111/jcpp.12979 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=385 [article] Development, behaviour and autism in individuals with SMC1A variants [Texte imprimé et/ou numérique] / P. A. MULDER, Auteur ; S. HUISMAN, Auteur ; A. M. LANDLUST, Auteur ; J. MOSS, Auteur ; S. PIENING, Auteur ; R. C. HENNEKAM, Auteur ; I. D. C. VAN BALKOM, Auteur . - p.305-313. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 60-3 (March 2019) . - p.305-313 Mots-clés : Behavioural phenotype  autism  cognition  cornelia de lange syndrome  rett syndrome  self-injurious behaviour Index. décimale : PER Périodiques Résumé : INTRODUCTION: Development and behaviour in Cornelia de Lange Syndrome (CdLS), including autism characteristics, have been described infrequently stratified to genetic cause and only a few studies have considered behavioural characteristics in relation to developmental level. Here, we describe the behavioural phenotype in individuals with CdLS with SMC1A variants. METHODS: We performed an international, interdisciplinary study on 51 individuals with SMC1A variants. Results of questionnaire studies are compared to those in individuals with Down Syndrome and with Autism Spectrum Disorder. Results on cognition and self-injurious behaviour (SIB) are compared to those in individuals with CdLS caused by NIPBL variants. For Dutch participants with SMC1A variants we performed direct in-person assessments of cognition, autism, and added an interview and questionnaire on adaptive behaviour and sensory processing. RESULTS: Individuals with SMC1A variants show a higher cognitive level and less SIB than individuals with NIPBL variants. Individuals with SMC1A variants without classic CdLS phenotype but with a Rett-like phenotype show more severe intellectual disability and more SIB compared to those with a CdLS phenotype. Autism is less present if outcomes in direct in-person assessments are evaluated taking developmental level into account compared to results based on a questionnaire. CONCLUSIONS: Behaviour in individuals with CdLS should be evaluated taking genetic cause into account. Detailed interdisciplinary approaches are of clinical importance to inform tailored care and may eventually improve quality of life of patients and families. En ligne : https://dx.doi.org/10.1111/jcpp.12979 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=385

Differential effects of anxiety and autism on social scene scanning in males with fragile X syndrome / Hayley CRAWFORD in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.9 Titre : Differential effects of anxiety and autism on social scene scanning in males with fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Hayley CRAWFORD, Auteur ; J. MOSS, Auteur ; C. OLIVER, Auteur ; D. RIBY, Auteur Article en page(s) : p.9 Langues : Anglais (eng) Mots-clés : Anxiety  Autism spectrum disorder  Eye tracking  Fragile X syndrome  Social attention Index. décimale : PER Périodiques Résumé : BACKGROUND: Existing literature draws links between social attention and socio-behavioural profiles in neurodevelopmental disorders. Fragile X syndrome (FXS) is associated with a known socio-behavioural phenotype of social anxiety and social communication difficulties alongside high social motivation. However, studies investigating social attention in males with FXS are scarce. Using eye tracking, this study investigates social attention and its relationship with both anxiety and autism symptomatology in males with FXS. METHODS: We compared dwell times to the background, body, and face regions of naturalistic social scenes in 11 males with FXS (M age = 26.29) and 11 typically developing (TD) children who were matched on gender and receptive language ability (M age = 6.28). Using informant-report measures, we then investigated the relationships between social scene scanning and anxiety, and social scene scanning and social communicative impairments. RESULTS: Males with FXS did not differ to TD children on overall dwell time to the background, body, or face regions of the naturalistic social scenes. Whilst males with FXS displayed developmentally 'typical' social attention, increased looking at faces was associated with both heightened anxiety and fewer social communication impairments in this group. CONCLUSIONS: These results offer novel insights into the mechanisms associated with social attention in FXS and provide evidence to suggest that anxiety and autism symptomatology, which are both heightened in FXS, have differential effects on social attention. En ligne : http://dx.doi.org/10.1186/s11689-017-9189-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349 [article] Differential effects of anxiety and autism on social scene scanning in males with fragile X syndrome [Texte imprimé et/ou numérique] / Hayley CRAWFORD, Auteur ; J. MOSS, Auteur ; C. OLIVER, Auteur ; D. RIBY, Auteur . - p.9. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.9 Mots-clés : Anxiety  Autism spectrum disorder  Eye tracking  Fragile X syndrome  Social attention Index. décimale : PER Périodiques Résumé : BACKGROUND: Existing literature draws links between social attention and socio-behavioural profiles in neurodevelopmental disorders. Fragile X syndrome (FXS) is associated with a known socio-behavioural phenotype of social anxiety and social communication difficulties alongside high social motivation. However, studies investigating social attention in males with FXS are scarce. Using eye tracking, this study investigates social attention and its relationship with both anxiety and autism symptomatology in males with FXS. METHODS: We compared dwell times to the background, body, and face regions of naturalistic social scenes in 11 males with FXS (M age = 26.29) and 11 typically developing (TD) children who were matched on gender and receptive language ability (M age = 6.28). Using informant-report measures, we then investigated the relationships between social scene scanning and anxiety, and social scene scanning and social communicative impairments. RESULTS: Males with FXS did not differ to TD children on overall dwell time to the background, body, or face regions of the naturalistic social scenes. Whilst males with FXS displayed developmentally 'typical' social attention, increased looking at faces was associated with both heightened anxiety and fewer social communication impairments in this group. CONCLUSIONS: These results offer novel insights into the mechanisms associated with social attention in FXS and provide evidence to suggest that anxiety and autism symptomatology, which are both heightened in FXS, have differential effects on social attention. En ligne : http://dx.doi.org/10.1186/s11689-017-9189-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349

Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance / D. REID in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

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Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance / D. REID in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

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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)  

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Lifespan trajectory of affect in Cornelia de Lange syndrome: towards a neurobiological hypothesis / L. GROVES in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)  

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A national survey of Rett syndrome: behavioural characteristics / R. CIANFAGLIONE in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

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Persistence of self-injurious behaviour in autism spectrum disorder over 3 years: a prospective cohort study of risk markers / C. RICHARDS in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

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Prospective study of autism phenomenology and the behavioural phenotype of Phelan-McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder / C. RICHARDS in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

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Self-injury and aggression in tuberous sclerosis complex: cross syndrome comparison and associated risk markers / K. E. EDEN in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

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The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison / S. BISSELL in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

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

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