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 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] / 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

Divergent presentation of anxiety in high-risk groups within the intellectual disability population / Laura GROVES in Journal of Neurodevelopmental Disorders, 14 (2022)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 14 (2022) Titre : Divergent presentation of anxiety in high-risk groups within the intellectual disability population Type de document : texte imprimé Auteurs : Laura GROVES, Auteur ; Joanna MOSS, Auteur ; Chris OLIVER, Auteur ; Rachel ROYSTON, Auteur ; Jane WAITE, Auteur ; Hayley CRAWFORD, Auteur Langues : Anglais (eng) Mots-clés : Anxiety/complications/epidemiology  Anxiety Disorders/complications/diagnosis/epidemiology  Autism Spectrum Disorder/complications/epidemiology/psychology  De Lange Syndrome/complications  Fragile X Syndrome/complications  Humans  Intellectual Disability/complications/diagnosis/epidemiology  Prospective Studies  Anxiety  Cornelia de Lange syndrome  Fragile X syndrome  Genetic syndromes  Intellectual disability Index. décimale : PER Périodiques Résumé : BACKGROUND: Anxiety symptomatology is common in individuals with intellectual disability (ID). Symptomatology includes both traditional Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) anxiety disorders and autism spectrum disorder (ASD)-related anxiety traits. Some genetic disorders such as Cornelia de Lange (CdLS) and fragile X syndromes (FXS) are at very high risk of anxiety and afford the opportunity to examine prevalence, profiles and associated person characteristics. However, prevalence and associated characteristics of anxiety in these high-risk groups remain poorly described and understood. The aim of the current study was to examine the prevalence and profile of DSM-5 and ASD-related anxiety symptomatology in individuals with CdLS and FXS and associated behavioural and cognitive characteristics. METHODS: Questionnaires and interviews assessing DSM-5 and ASD-related anxiety were conducted with caregivers of individuals with CdLS (n = 49) and FXS (n = 36). RESULTS: DSM-5 anxiety symptomatology was present in both groups with high co-morbidity across anxiety diagnoses. ASD-related anxiety was also prevalent with specific difficulties related to intolerance of uncertainty identified in both groups. Symptomatology was persistent over the lifespan for both groups. Anxiety type was partially associated with repetitive behaviour but not measures of overall ASD phenomenology in CdLS. CONCLUSIONS: DSM-5 and ASD-related anxiety are common in these high-risk syndromes associated with ID. Prospective syndrome specific presentations and associations, which may implicate specific underlying mechanisms, are discussed. Clinicians should be aware of the risk and difficulties involved in assessment of anxiety in individuals with ID, including atypical types, to ensure these individuals do not "miss" diagnoses and support in general clinical practice. En ligne : https://dx.doi.org/10.1186/s11689-022-09462-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Divergent presentation of anxiety in high-risk groups within the intellectual disability population [texte imprimé] / Laura GROVES, Auteur ; Joanna MOSS, Auteur ; Chris OLIVER, Auteur ; Rachel ROYSTON, Auteur ; Jane WAITE, Auteur ; Hayley CRAWFORD, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 14 (2022) Mots-clés : Anxiety/complications/epidemiology  Anxiety Disorders/complications/diagnosis/epidemiology  Autism Spectrum Disorder/complications/epidemiology/psychology  De Lange Syndrome/complications  Fragile X Syndrome/complications  Humans  Intellectual Disability/complications/diagnosis/epidemiology  Prospective Studies  Anxiety  Cornelia de Lange syndrome  Fragile X syndrome  Genetic syndromes  Intellectual disability Index. décimale : PER Périodiques Résumé : BACKGROUND: Anxiety symptomatology is common in individuals with intellectual disability (ID). Symptomatology includes both traditional Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) anxiety disorders and autism spectrum disorder (ASD)-related anxiety traits. Some genetic disorders such as Cornelia de Lange (CdLS) and fragile X syndromes (FXS) are at very high risk of anxiety and afford the opportunity to examine prevalence, profiles and associated person characteristics. However, prevalence and associated characteristics of anxiety in these high-risk groups remain poorly described and understood. The aim of the current study was to examine the prevalence and profile of DSM-5 and ASD-related anxiety symptomatology in individuals with CdLS and FXS and associated behavioural and cognitive characteristics. METHODS: Questionnaires and interviews assessing DSM-5 and ASD-related anxiety were conducted with caregivers of individuals with CdLS (n = 49) and FXS (n = 36). RESULTS: DSM-5 anxiety symptomatology was present in both groups with high co-morbidity across anxiety diagnoses. ASD-related anxiety was also prevalent with specific difficulties related to intolerance of uncertainty identified in both groups. Symptomatology was persistent over the lifespan for both groups. Anxiety type was partially associated with repetitive behaviour but not measures of overall ASD phenomenology in CdLS. CONCLUSIONS: DSM-5 and ASD-related anxiety are common in these high-risk syndromes associated with ID. Prospective syndrome specific presentations and associations, which may implicate specific underlying mechanisms, are discussed. Clinicians should be aware of the risk and difficulties involved in assessment of anxiety in individuals with ID, including atypical types, to ensure these individuals do not "miss" diagnoses and support in general clinical practice. En ligne : https://dx.doi.org/10.1186/s11689-022-09462-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance / Donna 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 Auteurs : Donna REID, Auteur ; Jo MOSS, Auteur ; Lisa NELSON, Auteur ; Laura GROVES, Auteur ; Chris 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] / Donna REID, Auteur ; Jo MOSS, Auteur ; Lisa NELSON, Auteur ; Laura GROVES, Auteur ; Chris 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 / Donna 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 Auteurs : Donna REID, Auteur ; Jo MOSS, Auteur ; Lisa NELSON, Auteur ; Laura GROVES, Auteur ; Chris 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] / Donna REID, Auteur ; Jo MOSS, Auteur ; Lisa NELSON, Auteur ; Laura GROVES, Auteur ; Chris 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 / Laura 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 Auteurs : Laura GROVES, Auteur ; Jo MOSS, Auteur ; Hayley CRAWFORD, Auteur ; Lisa NELSON, Auteur ; Chris STINTON, Auteur ; Gursharan SINGLA, Auteur ; Chris 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] / Laura GROVES, Auteur ; Jo MOSS, Auteur ; Hayley CRAWFORD, Auteur ; Lisa NELSON, Auteur ; Chris STINTON, Auteur ; Gursharan SINGLA, Auteur ; Chris 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

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