11 recherche sur le mot-clé 'Cornelia de Lange syndrome'

Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome / Siddharth SRIVASTAVA in Journal of Autism and Developmental Disorders, 51-5 (May 2021)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 51-5 (May 2021) . - p.1748-1758 Titre : Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Siddharth SRIVASTAVA, Auteur ; Bennett CLARK, Auteur ; Colleen LANDY-SCHMITT, Auteur ; Elizabeth A. OFFERMANN, Auteur ; Antonie D. KLINE, Auteur ; Samuel T. WILKINSON, Auteur ; Marco A. GRADOS, Auteur Article en page(s) : p.1748-1758 Langues : Anglais (eng) Mots-clés : Cornelia de Lange syndrome  Repetitive behaviors  Self-injurious behaviors  Stereotypies Index. décimale : PER Périodiques Résumé : Cornelia de Lange syndrome (CdLS) is associated with repetitive and self-injurious behaviors (RBs, SIB). Evaluating children with CdLS, this study: (1) characterizes the spectrum of RBs; (2) characterizes the impact and severity of RBs including SIB; (3) describes how age and adaptive functioning relate to RBs including SIB. Fifty children (5-17 years) with CdLS were assessed with Children's Yale-Brown Obsessive Compulsive Scale Modified for PDD; Aberrant Behavior Checklist (ABC); Vineland Adaptive Behaviors Scales (VABS). All children had???1 type of RB; 44% had some form of SIB. 64% spent?>?1 h/day displaying RBs. Lower VABS adaptive functioning was associated with higher stereotypy and SIB scores (ABC). In children with CdLS, RBs including SIB are common, impactful, and associated with lower adaptive functioning. En ligne : http://dx.doi.org/10.1007/s10803-020-04617-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=445 [article] Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome [Texte imprimé et/ou numérique] / Siddharth SRIVASTAVA, Auteur ; Bennett CLARK, Auteur ; Colleen LANDY-SCHMITT, Auteur ; Elizabeth A. OFFERMANN, Auteur ; Antonie D. KLINE, Auteur ; Samuel T. WILKINSON, Auteur ; Marco A. GRADOS, Auteur . - p.1748-1758. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 51-5 (May 2021) . - p.1748-1758 Mots-clés : Cornelia de Lange syndrome  Repetitive behaviors  Self-injurious behaviors  Stereotypies Index. décimale : PER Périodiques Résumé : Cornelia de Lange syndrome (CdLS) is associated with repetitive and self-injurious behaviors (RBs, SIB). Evaluating children with CdLS, this study: (1) characterizes the spectrum of RBs; (2) characterizes the impact and severity of RBs including SIB; (3) describes how age and adaptive functioning relate to RBs including SIB. Fifty children (5-17 years) with CdLS were assessed with Children's Yale-Brown Obsessive Compulsive Scale Modified for PDD; Aberrant Behavior Checklist (ABC); Vineland Adaptive Behaviors Scales (VABS). All children had???1 type of RB; 44% had some form of SIB. 64% spent?>?1 h/day displaying RBs. Lower VABS adaptive functioning was associated with higher stereotypy and SIB scores (ABC). In children with CdLS, RBs including SIB are common, impactful, and associated with lower adaptive functioning. En ligne : http://dx.doi.org/10.1007/s10803-020-04617-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=445

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

Characteristics of autism spectrum disorder in Cornelia de Lange syndrome / Jo MOSS in Journal of Child Psychology and Psychiatry, 53-8 (August 2012)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 53-8 (August 2012) . - p.883-891 Titre : Characteristics of autism spectrum disorder in Cornelia de Lange syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Jo MOSS, Auteur ; Patricia HOWLIN, Auteur ; Iliana MAGIATI, Auteur ; Chris OLIVER, Auteur Année de publication : 2012 Article en page(s) : p.883-891 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Cornelia de Lange syndrome  behavioural phenotypes  genetic syndromes  neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : Background:  The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in Cornelia de Lange syndrome (CdLS). However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. In this study we examine the ASD profile in CdLS in comparison to a matched group of individuals with ASD. Method:  The Autism Diagnostic Observation Schedule (ADOS) was administered to 20 individuals with CdLS (mean age = 11.34; range = 6–13 years) and 20 individuals with idiopathic ASD (mean age = 10.42; range = 8–11 years). Participants were matched according to adaptive behaviour and receptive language skills. Results:  Sixty-five percent (N = 13) of individuals with CdLS met the cut-off score for autism on the total ADOS score. Further analysis at domain and item level indicated that individuals with CdLS showed significantly less repetitive behaviour, (specifically sensory interests); more eye contact, more gestures and less stereotyped speech than the ASD group. The CdLS group also showed higher levels of anxiety. Conclusions:  The comparison between CdLS and idiopathic ASD indicates subtle group differences in the profile of ASD symptomatology that are not accounted for by degree of intellectual disability or receptive language skills. These differences may not be evident when relying solely upon clinical and domain level scores, but may be distinguishing features of the ASD presentations in the two disorders. The findings have implications for the conceptualisation and assessment of ASD in individuals with genetic syndromes. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2012.02540.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=177 [article] Characteristics of autism spectrum disorder in Cornelia de Lange syndrome [Texte imprimé et/ou numérique] / Jo MOSS, Auteur ; Patricia HOWLIN, Auteur ; Iliana MAGIATI, Auteur ; Chris OLIVER, Auteur . - 2012 . - p.883-891. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 53-8 (August 2012) . - p.883-891 Mots-clés : Autism spectrum disorder  Cornelia de Lange syndrome  behavioural phenotypes  genetic syndromes  neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : Background:  The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in Cornelia de Lange syndrome (CdLS). However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. In this study we examine the ASD profile in CdLS in comparison to a matched group of individuals with ASD. Method:  The Autism Diagnostic Observation Schedule (ADOS) was administered to 20 individuals with CdLS (mean age = 11.34; range = 6–13 years) and 20 individuals with idiopathic ASD (mean age = 10.42; range = 8–11 years). Participants were matched according to adaptive behaviour and receptive language skills. Results:  Sixty-five percent (N = 13) of individuals with CdLS met the cut-off score for autism on the total ADOS score. Further analysis at domain and item level indicated that individuals with CdLS showed significantly less repetitive behaviour, (specifically sensory interests); more eye contact, more gestures and less stereotyped speech than the ASD group. The CdLS group also showed higher levels of anxiety. Conclusions:  The comparison between CdLS and idiopathic ASD indicates subtle group differences in the profile of ASD symptomatology that are not accounted for by degree of intellectual disability or receptive language skills. These differences may not be evident when relying solely upon clinical and domain level scores, but may be distinguishing features of the ASD presentations in the two disorders. The findings have implications for the conceptualisation and assessment of ASD in individuals with genetic syndromes. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2012.02540.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=177

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)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.22 Titre : Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Hayley CRAWFORD, Auteur ; J. MOSS, Auteur ; J. P. MCCLEERY, Auteur ; George M. ANDERSON, Auteur ; C. OLIVER, Auteur Article en page(s) : p.22 Langues : Anglais (eng) Mots-clés : Cornelia de Lange syndrome  Emotion preference  Eye gaze  Eye-tracking  Rubinstein-Taybi syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Existing literature suggests differences in face scanning in individuals with different socio-behavioural characteristics. Cornelia de Lange syndrome (CdLS) and Rubinstein-Taybi syndrome (RTS) are two genetically defined neurodevelopmental disorders with unique profiles of social behaviour. METHODS: Here, we examine eye gaze to the eye and mouth regions of neutrally expressive faces, as well as the spontaneous visual preference for happy and disgusted facial expressions compared to neutral faces, in individuals with CdLS versus RTS. RESULTS: Results indicate that the amount of time spent looking at the eye and mouth regions of faces was similar in 15 individuals with CdLS and 17 individuals with RTS. Both participant groups also showed a similar pattern of spontaneous visual preference for emotions. CONCLUSIONS: These results provide insight into two rare, genetically defined neurodevelopmental disorders that have been reported to exhibit contrasting socio-behavioural characteristics and suggest that differences in social behaviour may not be sufficient to predict attention to the eye region of faces. These results also suggest that differences in the social behaviours of these two groups may be cognitively mediated rather than subcortically mediated. En ligne : http://dx.doi.org/10.1186/s11689-015-9119-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome [Texte imprimé et/ou numérique] / Hayley CRAWFORD, Auteur ; J. MOSS, Auteur ; J. P. MCCLEERY, Auteur ; George M. ANDERSON, Auteur ; C. OLIVER, Auteur . - p.22. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.22 Mots-clés : Cornelia de Lange syndrome  Emotion preference  Eye gaze  Eye-tracking  Rubinstein-Taybi syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Existing literature suggests differences in face scanning in individuals with different socio-behavioural characteristics. Cornelia de Lange syndrome (CdLS) and Rubinstein-Taybi syndrome (RTS) are two genetically defined neurodevelopmental disorders with unique profiles of social behaviour. METHODS: Here, we examine eye gaze to the eye and mouth regions of neutrally expressive faces, as well as the spontaneous visual preference for happy and disgusted facial expressions compared to neutral faces, in individuals with CdLS versus RTS. RESULTS: Results indicate that the amount of time spent looking at the eye and mouth regions of faces was similar in 15 individuals with CdLS and 17 individuals with RTS. Both participant groups also showed a similar pattern of spontaneous visual preference for emotions. CONCLUSIONS: These results provide insight into two rare, genetically defined neurodevelopmental disorders that have been reported to exhibit contrasting socio-behavioural characteristics and suggest that differences in social behaviour may not be sufficient to predict attention to the eye region of faces. These results also suggest that differences in the social behaviours of these two groups may be cognitively mediated rather than subcortically mediated. En ligne : http://dx.doi.org/10.1186/s11689-015-9119-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

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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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)  

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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)  

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Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes / Hayley CRAWFORD in Journal of Autism and Developmental Disorders, 47-12 (December 2017)  

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

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