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

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

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)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.37 Titre : 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 Type de document : Texte imprimé et/ou numérique Auteurs : C. RICHARDS, Auteur ; L. POWIS, Auteur ; J. MOSS, Auteur ; C. STINTON, Auteur ; L. NELSON, Auteur ; C. OLIVER, Auteur Article en page(s) : p.37 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Behavioural phenotype  Hyperactivity  Impulsivity  Mood  Phelan-McDermid syndrome  Repetitive behaviour  Shank3 Index. décimale : PER Périodiques Résumé : BACKGROUND: The limited behavioural phenotype literature on Phelan-McDermid syndrome (PMS) indicates atypically high levels of activity, impulsivity and autism spectrum disorder (ASD) behaviours. Divergent profiles of ASD in PMS are also reported, with some studies demonstrating similarities to idiopathic ASD and others indicating an uneven profile of social and communication impairments and repetitive behaviours. An evaluation of the behavioural phenotype of PMS and the prevalence and phenomenology of ASD is warranted, particularly given the causal involvement of the SHANK3 gene in the aetiology of PMS. METHODS: Carers of individuals with PMS (N = 30; mean age = 10.55, SD = 7.08) completed questionnaires relating to impulsivity, overactivity, mood, interest and pleasure, repetitive behaviour and ASD phenomenology. These data were compared to data from matched samples of individuals with fragile X and Down syndromes and idiopathic ASD. In order to evaluate the profile of ASD phenomenology in PMS, two comparisons were made: first, including the total sample with PMS, and second, including only those who met the threshold indicative of autism on an ASD screening measure. RESULTS: The results revealed lower mood in individuals with PMS, but no differences in impulsivity and overactivity. Compulsive and routine-driven repetitive behaviours were less common in the total sample with PMS; however, motor-based stereotyped behaviours were more common. ASD phenomenology was highly prevalent, with 87% of the sample meeting the cutoff score for ASD and 57% meeting the cutoff for autism. The profile of ASD phenomenology in the total sample with PMS differed from those with idiopathic ASD across impairments in communication and social interaction and repetitive behaviour. However, the profile of those who met the threshold for autism was commensurate to those with idiopathic ASD. CONCLUSIONS: ASD phenomenology is common within PMS. Whilst the total sample may display an atypical profile of ASD behaviour, the profile in those who met the threshold for autism was very similar to those with idiopathic ASD. These results are discussed in relation to the wider behavioural phenotype and the emerging evidence of an autism endophenotype in PMS. En ligne : http://dx.doi.org/10.1186/s11689-017-9217-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 [article] 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 [Texte imprimé et/ou numérique] / C. RICHARDS, Auteur ; L. POWIS, Auteur ; J. MOSS, Auteur ; C. STINTON, Auteur ; L. NELSON, Auteur ; C. OLIVER, Auteur . - p.37. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.37 Mots-clés : Autism spectrum disorder  Behavioural phenotype  Hyperactivity  Impulsivity  Mood  Phelan-McDermid syndrome  Repetitive behaviour  Shank3 Index. décimale : PER Périodiques Résumé : BACKGROUND: The limited behavioural phenotype literature on Phelan-McDermid syndrome (PMS) indicates atypically high levels of activity, impulsivity and autism spectrum disorder (ASD) behaviours. Divergent profiles of ASD in PMS are also reported, with some studies demonstrating similarities to idiopathic ASD and others indicating an uneven profile of social and communication impairments and repetitive behaviours. An evaluation of the behavioural phenotype of PMS and the prevalence and phenomenology of ASD is warranted, particularly given the causal involvement of the SHANK3 gene in the aetiology of PMS. METHODS: Carers of individuals with PMS (N = 30; mean age = 10.55, SD = 7.08) completed questionnaires relating to impulsivity, overactivity, mood, interest and pleasure, repetitive behaviour and ASD phenomenology. These data were compared to data from matched samples of individuals with fragile X and Down syndromes and idiopathic ASD. In order to evaluate the profile of ASD phenomenology in PMS, two comparisons were made: first, including the total sample with PMS, and second, including only those who met the threshold indicative of autism on an ASD screening measure. RESULTS: The results revealed lower mood in individuals with PMS, but no differences in impulsivity and overactivity. Compulsive and routine-driven repetitive behaviours were less common in the total sample with PMS; however, motor-based stereotyped behaviours were more common. ASD phenomenology was highly prevalent, with 87% of the sample meeting the cutoff score for ASD and 57% meeting the cutoff for autism. The profile of ASD phenomenology in the total sample with PMS differed from those with idiopathic ASD across impairments in communication and social interaction and repetitive behaviour. However, the profile of those who met the threshold for autism was commensurate to those with idiopathic ASD. CONCLUSIONS: ASD phenomenology is common within PMS. Whilst the total sample may display an atypical profile of ASD behaviour, the profile in those who met the threshold for autism was very similar to those with idiopathic ASD. These results are discussed in relation to the wider behavioural phenotype and the emerging evidence of an autism endophenotype in PMS. En ligne : http://dx.doi.org/10.1186/s11689-017-9217-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350

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