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

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

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

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.29 Titre : Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance Type de document : Texte imprimé et/ou numérique Auteurs : D. REID, Auteur ; J. MOSS, Auteur ; L. NELSON, Auteur ; L. GROVES, Auteur ; C. OLIVER, Auteur Article en page(s) : p.29 Langues : Anglais (eng) Mots-clés : Behavioural phenotype  CdLS  Cornelia de Lange  Executive functioning Index. décimale : PER Périodiques Résumé : BACKGROUND: The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment. METHODS: Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests. RESULTS: Individuals with CdLS showed significantly greater impairment on tasks requiring flexibility and inhibition (rule switch) and on forwards span capacity. These impairments were also reported in the parent/carer-rated questionnaire measures. Backwards Digit Span was significantly negatively correlated with chronological age in CdLS, indicating increased deficits with age. This was not identified in individuals with DS. CONCLUSIONS: The relative deficits in executive functioning task performance are important in understanding the behavioural phenotype of CdLS. Prospective longitudinal follow-up is required to examine further the changes in executive functioning with age and if these map onto observed changes in behaviour in CdLS. Links with recent research indicating heightened responses to oxidative stress in CdLS may also be important. En ligne : http://dx.doi.org/10.1186/s11689-017-9208-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 [article] Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance [Texte imprimé et/ou numérique] / D. REID, Auteur ; J. MOSS, Auteur ; L. NELSON, Auteur ; L. GROVES, Auteur ; C. OLIVER, Auteur . - p.29. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.29 Mots-clés : Behavioural phenotype  CdLS  Cornelia de Lange  Executive functioning Index. décimale : PER Périodiques Résumé : BACKGROUND: The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment. METHODS: Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests. RESULTS: Individuals with CdLS showed significantly greater impairment on tasks requiring flexibility and inhibition (rule switch) and on forwards span capacity. These impairments were also reported in the parent/carer-rated questionnaire measures. Backwards Digit Span was significantly negatively correlated with chronological age in CdLS, indicating increased deficits with age. This was not identified in individuals with DS. CONCLUSIONS: The relative deficits in executive functioning task performance are important in understanding the behavioural phenotype of CdLS. Prospective longitudinal follow-up is required to examine further the changes in executive functioning with age and if these map onto observed changes in behaviour in CdLS. Links with recent research indicating heightened responses to oxidative stress in CdLS may also be important. En ligne : http://dx.doi.org/10.1186/s11689-017-9208-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350

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

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.29 Titre : Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance Type de document : Texte imprimé et/ou numérique Auteurs : D. REID, Auteur ; J. MOSS, Auteur ; L. NELSON, Auteur ; L. GROVES, Auteur ; C. OLIVER, Auteur Article en page(s) : p.29 Langues : Anglais (eng) Mots-clés : Behavioural phenotype  CdLS  Cornelia de Lange  Executive functioning Index. décimale : PER Périodiques Résumé : BACKGROUND: The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment. METHODS: Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests. RESULTS: Individuals with CdLS showed significantly greater impairment on tasks requiring flexibility and inhibition (rule switch) and on forwards span capacity. These impairments were also reported in the parent/carer-rated questionnaire measures. Backwards Digit Span was significantly negatively correlated with chronological age in CdLS, indicating increased deficits with age. This was not identified in individuals with DS. CONCLUSIONS: The relative deficits in executive functioning task performance are important in understanding the behavioural phenotype of CdLS. Prospective longitudinal follow-up is required to examine further the changes in executive functioning with age and if these map onto observed changes in behaviour in CdLS. Links with recent research indicating heightened responses to oxidative stress in CdLS may also be important. En ligne : http://dx.doi.org/10.1186/s11689-017-9208-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 [article] Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance [Texte imprimé et/ou numérique] / D. REID, Auteur ; J. MOSS, Auteur ; L. NELSON, Auteur ; L. GROVES, Auteur ; C. OLIVER, Auteur . - p.29. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.29 Mots-clés : Behavioural phenotype  CdLS  Cornelia de Lange  Executive functioning Index. décimale : PER Périodiques Résumé : BACKGROUND: The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment. METHODS: Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests. RESULTS: Individuals with CdLS showed significantly greater impairment on tasks requiring flexibility and inhibition (rule switch) and on forwards span capacity. These impairments were also reported in the parent/carer-rated questionnaire measures. Backwards Digit Span was significantly negatively correlated with chronological age in CdLS, indicating increased deficits with age. This was not identified in individuals with DS. CONCLUSIONS: The relative deficits in executive functioning task performance are important in understanding the behavioural phenotype of CdLS. Prospective longitudinal follow-up is required to examine further the changes in executive functioning with age and if these map onto observed changes in behaviour in CdLS. Links with recent research indicating heightened responses to oxidative stress in CdLS may also be important. En ligne : http://dx.doi.org/10.1186/s11689-017-9208-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350

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

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 6 p. Titre : Lifespan trajectory of affect in Cornelia de Lange syndrome: towards a neurobiological hypothesis Type de document : Texte imprimé et/ou numérique Auteurs : L. GROVES, Auteur ; J. MOSS, Auteur ; Hayley CRAWFORD, Auteur ; L. NELSON, Auteur ; C. STINTON, Auteur ; G. SINGLA, Auteur ; C. OLIVER, Auteur Article en page(s) : 6 p. Langues : Anglais (eng) Mots-clés : Affect  Cornelia de Lange syndrome  Fragile X syndrome  Mood  Trajectory Index. décimale : PER Périodiques Résumé : BACKGROUND: Depressive symptomology and low affect are comparatively common in individuals with genetic disorders such as Cornelia de Lange syndrome. However, lifespan trajectories and associated person characteristics have not been examined. In this study, the trajectories for affect and associated behavioural characteristics were investigated in individuals with Cornelia de Lange syndrome with individuals with fragile X syndrome (FXS) comparable for chronological age and total number of behavioural indicators of ASD included for the purpose of contrast. METHODS: A 7-year longitudinal study of affect (mood, interest and pleasure) was conducted in individuals with CdLS (n = 44) and FXS (n = 95). The trajectories of low affect were explored, as well as associations between Time 1 behavioural characteristics and affect at Time 1 and Time 3 (7 years later). RESULTS: The CdLS group were lower in mood than the FXS group overall (p < .001). Interest and pleasure scores showed a significant decline over the lifespan for individuals with CdLS (p < .001) but not the FXS group. Lower level of ability at Time 1 was associated with lower mood at Time 1 and Time 3 in the FXS group only. Higher levels of ASD symptomology at Time 1 were associated with low mood and interest and pleasure in both syndrome groups at Time 1 and Time 3. Greater insistence on sameness at Time 1 was associated with lower mood at Time 1 in the FXS group and lower interest and pleasure at Time 1 and Time 3 in the CdLS group. CONCLUSIONS: Low affect in specific genetic syndromes may be associated with differing lifespan trajectories and behavioural profiles. Specifically, individuals with CdLS appear at risk for experiencing declines in levels of interest and pleasure whereas individuals with FXS show no significant change in the level of affect with age. En ligne : https://dx.doi.org/10.1186/s11689-019-9269-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409 [article] Lifespan trajectory of affect in Cornelia de Lange syndrome: towards a neurobiological hypothesis [Texte imprimé et/ou numérique] / L. GROVES, Auteur ; J. MOSS, Auteur ; Hayley CRAWFORD, Auteur ; L. NELSON, Auteur ; C. STINTON, Auteur ; G. SINGLA, Auteur ; C. OLIVER, Auteur . - 6 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 6 p. Mots-clés : Affect  Cornelia de Lange syndrome  Fragile X syndrome  Mood  Trajectory Index. décimale : PER Périodiques Résumé : BACKGROUND: Depressive symptomology and low affect are comparatively common in individuals with genetic disorders such as Cornelia de Lange syndrome. However, lifespan trajectories and associated person characteristics have not been examined. In this study, the trajectories for affect and associated behavioural characteristics were investigated in individuals with Cornelia de Lange syndrome with individuals with fragile X syndrome (FXS) comparable for chronological age and total number of behavioural indicators of ASD included for the purpose of contrast. METHODS: A 7-year longitudinal study of affect (mood, interest and pleasure) was conducted in individuals with CdLS (n = 44) and FXS (n = 95). The trajectories of low affect were explored, as well as associations between Time 1 behavioural characteristics and affect at Time 1 and Time 3 (7 years later). RESULTS: The CdLS group were lower in mood than the FXS group overall (p < .001). Interest and pleasure scores showed a significant decline over the lifespan for individuals with CdLS (p < .001) but not the FXS group. Lower level of ability at Time 1 was associated with lower mood at Time 1 and Time 3 in the FXS group only. Higher levels of ASD symptomology at Time 1 were associated with low mood and interest and pleasure in both syndrome groups at Time 1 and Time 3. Greater insistence on sameness at Time 1 was associated with lower mood at Time 1 in the FXS group and lower interest and pleasure at Time 1 and Time 3 in the CdLS group. CONCLUSIONS: Low affect in specific genetic syndromes may be associated with differing lifespan trajectories and behavioural profiles. Specifically, individuals with CdLS appear at risk for experiencing declines in levels of interest and pleasure whereas individuals with FXS show no significant change in the level of affect with age. En ligne : https://dx.doi.org/10.1186/s11689-019-9269-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409

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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