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Détail de l'auteur
Auteur A. WELHAM |
Documents disponibles écrits par cet auteur (3)
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Age-related Behavioural Change in Cornelia de Lange and Cri du Chat Syndromes: A Seven Year Follow-up Study / L. COCHRAN in Journal of Autism and Developmental Disorders, 49-6 (June 2019)
[article]
Titre : Age-related Behavioural Change in Cornelia de Lange and Cri du Chat Syndromes: A Seven Year Follow-up Study Type de document : Texte imprimé et/ou numérique Auteurs : L. COCHRAN, Auteur ; A. WELHAM, Auteur ; C. OLIVER, Auteur ; A. ARSHAD, Auteur ; J. F. MOSS, Auteur Article en page(s) : p.2476-2487 Langues : Anglais (eng) Mots-clés : Age Autism spectrum disorder Behaviour Cornelia de Lange syndrome Cri du Chat syndrome Index. décimale : PER Périodiques Résumé : Age-related behavioural change in Cornelia de Lange syndrome is poorly understood. We report a 7 year follow-up study of adaptive behaviour, autism spectrum disorder symptomatology, language skills and behavioural characteristics in 30 individuals with Cornelia de Lange syndrome, compared with 18 individuals with Cri du Chat syndrome. The proportion of individuals with Cornelia de Lange syndrome meeting criteria for autism spectrum disorder on the Autism Diagnostic Observation Schedule increased, although patterns of change were complex. For both syndrome groups, absolute levels of adaptive ability were stable and receptive language improved, suggesting that changes over time do not result from an overall decline in ability. Reliable change index scores indicate heterogeneity within both groups in the occurrence of improvement or decline. En ligne : https://dx.doi.org/10.1007/s10803-019-03966-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400
in Journal of Autism and Developmental Disorders > 49-6 (June 2019) . - p.2476-2487[article] Age-related Behavioural Change in Cornelia de Lange and Cri du Chat Syndromes: A Seven Year Follow-up Study [Texte imprimé et/ou numérique] / L. COCHRAN, Auteur ; A. WELHAM, Auteur ; C. OLIVER, Auteur ; A. ARSHAD, Auteur ; J. F. MOSS, Auteur . - p.2476-2487.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 49-6 (June 2019) . - p.2476-2487
Mots-clés : Age Autism spectrum disorder Behaviour Cornelia de Lange syndrome Cri du Chat syndrome Index. décimale : PER Périodiques Résumé : Age-related behavioural change in Cornelia de Lange syndrome is poorly understood. We report a 7 year follow-up study of adaptive behaviour, autism spectrum disorder symptomatology, language skills and behavioural characteristics in 30 individuals with Cornelia de Lange syndrome, compared with 18 individuals with Cri du Chat syndrome. The proportion of individuals with Cornelia de Lange syndrome meeting criteria for autism spectrum disorder on the Autism Diagnostic Observation Schedule increased, although patterns of change were complex. For both syndrome groups, absolute levels of adaptive ability were stable and receptive language improved, suggesting that changes over time do not result from an overall decline in ability. Reliable change index scores indicate heterogeneity within both groups in the occurrence of improvement or decline. En ligne : https://dx.doi.org/10.1007/s10803-019-03966-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400 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)
[article]
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
in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 24 p.[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 Correction to: Age-related Behavioural Change in Cornelia de Lange and Cri du Chat Syndromes: A Seven Year Follow-up Study / L. COCHRAN in Journal of Autism and Developmental Disorders, 49-6 (June 2019)
[article]
Titre : Correction to: Age-related Behavioural Change in Cornelia de Lange and Cri du Chat Syndromes: A Seven Year Follow-up Study Type de document : Texte imprimé et/ou numérique Auteurs : L. COCHRAN, Auteur ; A. WELHAM, Auteur ; C. OLIVER, Auteur ; A. ARSHAD, Auteur ; J. F. MOSS, Auteur Article en page(s) : p.2488-2491 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The original version of this article unfortunately published with the incorrect text "details removed for blind review" instead of "Cerebra Centre for Neurodevelopmental Disorders, University of Birmingham, UK". En ligne : https://dx.doi.org/10.1007/s10803-019-04031-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400
in Journal of Autism and Developmental Disorders > 49-6 (June 2019) . - p.2488-2491[article] Correction to: Age-related Behavioural Change in Cornelia de Lange and Cri du Chat Syndromes: A Seven Year Follow-up Study [Texte imprimé et/ou numérique] / L. COCHRAN, Auteur ; A. WELHAM, Auteur ; C. OLIVER, Auteur ; A. ARSHAD, Auteur ; J. F. MOSS, Auteur . - p.2488-2491.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 49-6 (June 2019) . - p.2488-2491
Index. décimale : PER Périodiques Résumé : The original version of this article unfortunately published with the incorrect text "details removed for blind review" instead of "Cerebra Centre for Neurodevelopmental Disorders, University of Birmingham, UK". En ligne : https://dx.doi.org/10.1007/s10803-019-04031-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400