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Delineation of Behavioral Phenotypes in Genetic Syndromes: Characteristics of Autism Spectrum Disorder, Affect and Hyperactivity / Chris OLIVER in Journal of Autism and Developmental Disorders, 41-8 (August 2011)
[article]
Titre : Delineation of Behavioral Phenotypes in Genetic Syndromes: Characteristics of Autism Spectrum Disorder, Affect and Hyperactivity Type de document : Texte imprimé et/ou numérique Auteurs : Chris OLIVER, Auteur ; Katy BERG, Auteur ; Jo MOSS, Auteur ; Kate ARRON, Auteur ; Cheryl BURBIDGE, Auteur Année de publication : 2011 Article en page(s) : p.1019-1032 Langues : Anglais (eng) Mots-clés : Behavioral phenotype Autism spectrum disorder Hyperactivity Impulsivity Affect Genetic syndromes Index. décimale : PER Périodiques Résumé : We investigated autism spectrum disorder (ASD) symptomatology, hyperactivity and affect in seven genetic syndromes; Angelman (AS; n = 104), Cri du Chat (CdCS; 58), Cornelia de Lange (CdLS; 101), Fragile X (FXS; 191), Prader-Willi (PWS; 189), Smith-Magenis (SMS; 42) and Lowe (LS; 56) syndromes (age range 4–51). ASD symptomatology was heightened in CdLS and FXS. High levels of impulsivity were seen in SMS, AS, CdCS, FXS and adults with CdLS. Negative affect was prominent in adults with CdLS, while positive affect was prominent in adults with AS and FXS. Heightened levels of overactivity and impulsivity were identified in FXS, AS and SMS while low levels were identified in PWS. These findings confirm and extend previously reported behavioral phenotypes. En ligne : http://dx.doi.org/10.1007/s10803-010-1125-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=132
in Journal of Autism and Developmental Disorders > 41-8 (August 2011) . - p.1019-1032[article] Delineation of Behavioral Phenotypes in Genetic Syndromes: Characteristics of Autism Spectrum Disorder, Affect and Hyperactivity [Texte imprimé et/ou numérique] / Chris OLIVER, Auteur ; Katy BERG, Auteur ; Jo MOSS, Auteur ; Kate ARRON, Auteur ; Cheryl BURBIDGE, Auteur . - 2011 . - p.1019-1032.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 41-8 (August 2011) . - p.1019-1032
Mots-clés : Behavioral phenotype Autism spectrum disorder Hyperactivity Impulsivity Affect Genetic syndromes Index. décimale : PER Périodiques Résumé : We investigated autism spectrum disorder (ASD) symptomatology, hyperactivity and affect in seven genetic syndromes; Angelman (AS; n = 104), Cri du Chat (CdCS; 58), Cornelia de Lange (CdLS; 101), Fragile X (FXS; 191), Prader-Willi (PWS; 189), Smith-Magenis (SMS; 42) and Lowe (LS; 56) syndromes (age range 4–51). ASD symptomatology was heightened in CdLS and FXS. High levels of impulsivity were seen in SMS, AS, CdCS, FXS and adults with CdLS. Negative affect was prominent in adults with CdLS, while positive affect was prominent in adults with AS and FXS. Heightened levels of overactivity and impulsivity were identified in FXS, AS and SMS while low levels were identified in PWS. These findings confirm and extend previously reported behavioral phenotypes. En ligne : http://dx.doi.org/10.1007/s10803-010-1125-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=132 Sleep disorders in rare genetic syndromes: a meta-analysis of prevalence and profile / G. AGAR in Molecular Autism, 12 (2021)
[article]
Titre : Sleep disorders in rare genetic syndromes: a meta-analysis of prevalence and profile Type de document : Texte imprimé et/ou numérique Auteurs : G. AGAR, Auteur ; C. BROWN, Auteur ; D. SUTHERLAND, Auteur ; S. COULBORN, Auteur ; C. OLIVER, Auteur ; C. RICHARDS, Auteur Article en page(s) : 18 p. Langues : Anglais (eng) Mots-clés : Congenital Abnormalities/epidemiology Humans Prevalence Sleep Wake Disorders/epidemiology Syndrome Genetic syndromes Intellectual disability Meta-analysis Sleep disorders Sleep profile Index. décimale : PER Périodiques Résumé : BACKGROUND: Sleep disorders are common in people with intellectual disability (ID) and autism, with growing evidence of diverse sleep profiles across ID associated genetic syndromes. Documenting the prevalence and profile of specific sleep disorders in syndromes will quantify syndrome-driven 'risk', inform prognosis and enhance understanding of aetiology of sleep disorders. METHOD: Following PRISMA guidelines for meta-analysis, we searched Ovid PsycINFO, Ovid MEDLINE, Ovid Embase, Web of Science and PubMed Central with use of syndrome-specific keywords and 60 sleep-related search terms. We screened and extracted papers that reported sleep disorder prevalence data for five or more individuals within a genetic syndrome, and applied quality criteria to produce a quality-effects prevalence model of six types of sleep disorder across nineteen syndromes. Relative risk estimates were calculated for the prevalence of each sleep disorder in each syndrome. RESULTS: Two hundred and seventy three papers were identified, generating 463 prevalence estimates for Angelman, CHARGE, Cornelia de Lange, Down, fragile X, Prader-Willi, Rett, Smith-Magenis and Williams syndromes, mucopolysaccharidoses (MPS disorders), neurofibromatosis and tuberous sclerosis complex. Prevalence estimates were higher in genetic syndromes than published equivalents for typically developing individuals, with few exceptions. Between-syndrome differences for some disorders were evident; sleep-disordered breathing was most prevalent in MPS disorders (72-77%), while excessive daytime sleepiness was highest in Smith-Magenis syndrome (60%). Conversely, insomnia, which was reported at a higher rate than TD estimates in all syndromes except fragile X, was not associated with specific genetic risk. This suggests insomnia could emerge because of the individual's environment or associated developmental delay, rather than any specific genetic syndromes. LIMITATIONS: Due to the broad scope of the meta-analysis, only syndromes previously identified as reporting preliminary sleep research were included. Other syndromes may also experience elevated prevalence rates of specific types of sleep disorder. Only English language papers were included. CONCLUSIONS: Differing prevalence rates between types of sleep disorder suggest differing causal mechanisms, such as cranio-facial morphology in Down and Prader-Willi syndromes and the build-up of mucopolysaccharides in MPS disorders. Priorities for clinical assessment and intervention for sleep disorders are discussed. En ligne : http://dx.doi.org/10.1186/s13229-021-00426-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459
in Molecular Autism > 12 (2021) . - 18 p.[article] Sleep disorders in rare genetic syndromes: a meta-analysis of prevalence and profile [Texte imprimé et/ou numérique] / G. AGAR, Auteur ; C. BROWN, Auteur ; D. SUTHERLAND, Auteur ; S. COULBORN, Auteur ; C. OLIVER, Auteur ; C. RICHARDS, Auteur . - 18 p.
Langues : Anglais (eng)
in Molecular Autism > 12 (2021) . - 18 p.
Mots-clés : Congenital Abnormalities/epidemiology Humans Prevalence Sleep Wake Disorders/epidemiology Syndrome Genetic syndromes Intellectual disability Meta-analysis Sleep disorders Sleep profile Index. décimale : PER Périodiques Résumé : BACKGROUND: Sleep disorders are common in people with intellectual disability (ID) and autism, with growing evidence of diverse sleep profiles across ID associated genetic syndromes. Documenting the prevalence and profile of specific sleep disorders in syndromes will quantify syndrome-driven 'risk', inform prognosis and enhance understanding of aetiology of sleep disorders. METHOD: Following PRISMA guidelines for meta-analysis, we searched Ovid PsycINFO, Ovid MEDLINE, Ovid Embase, Web of Science and PubMed Central with use of syndrome-specific keywords and 60 sleep-related search terms. We screened and extracted papers that reported sleep disorder prevalence data for five or more individuals within a genetic syndrome, and applied quality criteria to produce a quality-effects prevalence model of six types of sleep disorder across nineteen syndromes. Relative risk estimates were calculated for the prevalence of each sleep disorder in each syndrome. RESULTS: Two hundred and seventy three papers were identified, generating 463 prevalence estimates for Angelman, CHARGE, Cornelia de Lange, Down, fragile X, Prader-Willi, Rett, Smith-Magenis and Williams syndromes, mucopolysaccharidoses (MPS disorders), neurofibromatosis and tuberous sclerosis complex. Prevalence estimates were higher in genetic syndromes than published equivalents for typically developing individuals, with few exceptions. Between-syndrome differences for some disorders were evident; sleep-disordered breathing was most prevalent in MPS disorders (72-77%), while excessive daytime sleepiness was highest in Smith-Magenis syndrome (60%). Conversely, insomnia, which was reported at a higher rate than TD estimates in all syndromes except fragile X, was not associated with specific genetic risk. This suggests insomnia could emerge because of the individual's environment or associated developmental delay, rather than any specific genetic syndromes. LIMITATIONS: Due to the broad scope of the meta-analysis, only syndromes previously identified as reporting preliminary sleep research were included. Other syndromes may also experience elevated prevalence rates of specific types of sleep disorder. Only English language papers were included. CONCLUSIONS: Differing prevalence rates between types of sleep disorder suggest differing causal mechanisms, such as cranio-facial morphology in Down and Prader-Willi syndromes and the build-up of mucopolysaccharides in MPS disorders. Priorities for clinical assessment and intervention for sleep disorders are discussed. En ligne : http://dx.doi.org/10.1186/s13229-021-00426-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459 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)
[article]
Titre : Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes Type de document : Texte imprimé et/ou numérique Auteurs : Hayley CRAWFORD, Auteur ; J. WAITE, Auteur ; C. OLIVER, Auteur Année de publication : 2017 Article en page(s) : p.3728-3740 Langues : Anglais (eng) Mots-clés : Anxiety Cornelia de Lange syndrome Fragile X syndrome Genetic syndromes Intellectual disability Rubinstein-Taybi syndrome Index. décimale : PER Périodiques Résumé : Anxiety disorders are heightened in specific genetic syndromes in comparison to intellectual disability of heterogeneous aetiology. In this study, we described and contrasted anxiety symptomatology in fragile X (FXS), Cornelia de Lange (CdLS) and Rubinstein-Taybi syndromes (RTS), and compared the symptomatology to normative data for typically-developing children and children diagnosed with an anxiety disorder. Scores did not differ between children diagnosed with an anxiety disorder and (a) participants with FXS on social phobia, panic/agoraphobia, physical injury fears, and obsessive-compulsive subscales (b) participants with CdLS on separation anxiety, generalized anxiety, panic/agoraphobia, physical injury fears and obsessive-compulsive subscales, and (c) participants with RTS on panic/agoraphobia and obsessive-compulsive subscales. The results highlight divergent profiles of anxiety symptomatology between these groups. En ligne : http://dx.doi.org/10.1007/s10803-016-3015-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=325
in Journal of Autism and Developmental Disorders > 47-12 (December 2017) . - p.3728-3740[article] Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes [Texte imprimé et/ou numérique] / Hayley CRAWFORD, Auteur ; J. WAITE, Auteur ; C. OLIVER, Auteur . - 2017 . - p.3728-3740.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 47-12 (December 2017) . - p.3728-3740
Mots-clés : Anxiety Cornelia de Lange syndrome Fragile X syndrome Genetic syndromes Intellectual disability Rubinstein-Taybi syndrome Index. décimale : PER Périodiques Résumé : Anxiety disorders are heightened in specific genetic syndromes in comparison to intellectual disability of heterogeneous aetiology. In this study, we described and contrasted anxiety symptomatology in fragile X (FXS), Cornelia de Lange (CdLS) and Rubinstein-Taybi syndromes (RTS), and compared the symptomatology to normative data for typically-developing children and children diagnosed with an anxiety disorder. Scores did not differ between children diagnosed with an anxiety disorder and (a) participants with FXS on social phobia, panic/agoraphobia, physical injury fears, and obsessive-compulsive subscales (b) participants with CdLS on separation anxiety, generalized anxiety, panic/agoraphobia, physical injury fears and obsessive-compulsive subscales, and (c) participants with RTS on panic/agoraphobia and obsessive-compulsive subscales. The results highlight divergent profiles of anxiety symptomatology between these groups. En ligne : http://dx.doi.org/10.1007/s10803-016-3015-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=325 Anxiety Disorders in Williams Syndrome Contrasted with Intellectual Disability and the General Population: A Systematic Review and Meta-Analysis / R. ROYSTON in Journal of Autism and Developmental Disorders, 47-12 (December 2017)
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Titre : Anxiety Disorders in Williams Syndrome Contrasted with Intellectual Disability and the General Population: A Systematic Review and Meta-Analysis Type de document : Texte imprimé et/ou numérique Auteurs : R. ROYSTON, Auteur ; P. HOWLIN, Auteur ; J. WAITE, Auteur ; C. OLIVER, Auteur Année de publication : 2017 Article en page(s) : p.3765-3777 Langues : Anglais (eng) Mots-clés : Anxiety disorders Genetic syndromes Intellectual disability Meta-analysis Systematic review Williams syndrome Index. décimale : PER Périodiques Résumé : Individuals with specific genetic syndromes associated with intellectual disability (ID), such as Williams syndrome (WS), are at increased risk for developing anxiety disorders. A systematic literature review identified sixteen WS papers that could generate pooled prevalence estimates of anxiety disorders for WS. A meta-analysis compared these estimates with prevalence estimates for the heterogeneous ID population and the general population. Estimated rates of anxiety disorders in WS were high. WS individuals were four times more likely to experience anxiety than individuals with ID, and the risk was also heightened compared to the general population. The results provide further evidence of an unusual profile of high anxiety in WS. En ligne : http://dx.doi.org/10.1007/s10803-016-2909-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=325
in Journal of Autism and Developmental Disorders > 47-12 (December 2017) . - p.3765-3777[article] Anxiety Disorders in Williams Syndrome Contrasted with Intellectual Disability and the General Population: A Systematic Review and Meta-Analysis [Texte imprimé et/ou numérique] / R. ROYSTON, Auteur ; P. HOWLIN, Auteur ; J. WAITE, Auteur ; C. OLIVER, Auteur . - 2017 . - p.3765-3777.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 47-12 (December 2017) . - p.3765-3777
Mots-clés : Anxiety disorders Genetic syndromes Intellectual disability Meta-analysis Systematic review Williams syndrome Index. décimale : PER Périodiques Résumé : Individuals with specific genetic syndromes associated with intellectual disability (ID), such as Williams syndrome (WS), are at increased risk for developing anxiety disorders. A systematic literature review identified sixteen WS papers that could generate pooled prevalence estimates of anxiety disorders for WS. A meta-analysis compared these estimates with prevalence estimates for the heterogeneous ID population and the general population. Estimated rates of anxiety disorders in WS were high. WS individuals were four times more likely to experience anxiety than individuals with ID, and the risk was also heightened compared to the general population. The results provide further evidence of an unusual profile of high anxiety in WS. En ligne : http://dx.doi.org/10.1007/s10803-016-2909-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=325 Characteristics of autism spectrum disorder in Cornelia de Lange syndrome / Jo MOSS in Journal of Child Psychology and Psychiatry, 53-8 (August 2012)
[article]
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
in Journal of Child Psychology and Psychiatry > 53-8 (August 2012) . - p.883-891[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 Clinical and Laboratory Data in a Sample of Greek Children with Autism Spectrum Disorders / Athina VERVERI in Journal of Autism and Developmental Disorders, 42-7 (July 2012)
PermalinkA cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex / J. TRICKETT in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)
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