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Auteur C. HICKERTON |
Documents disponibles écrits par cet auteur (1)
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Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes / E. K. BAKER in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)
[article]
Titre : Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes Type de document : Texte imprimé et/ou numérique Auteurs : E. K. BAKER, Auteur ; D. E. GODLER, Auteur ; M. BUI, Auteur ; C. HICKERTON, Auteur ; C. ROGERS, Auteur ; M. FIELD, Auteur ; D. J. AMOR, Auteur ; L. BRETHERTON, Auteur Année de publication : 2018 Article en page(s) : 24 p. Langues : Anglais (eng) Mots-clés : Ados Angelman syndrome Autism Iq Prader-Willi syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders that are caused by abnormal expression of imprinted genes in the 15q11-13 region. Dysregulation of genes located in this region has been proposed as a susceptibility factor for autism spectrum disorder (ASD) in both disorders. METHODS: This study aimed to explore symptoms of ASD in 25 PWS and 19 AS individuals aged between 1 and 39 years via objective assessment. Participants completed the Autism Diagnostic Observation Schedule-2nd Edition (ADOS-2) and a developmentally or age-appropriate intellectual functioning assessment. All participants had their genetic diagnosis confirmed using DNA methylation analysis and microarray testing of copy number changes within the 15q11-13 region. RESULTS: Participants with PWS had significantly higher overall and social affect calibrated severity scores (CSS) on the ADOS-2 compared to AS participants (p = .0055 and .0015, respectively), but the two groups did not differ significantly on CSS for the repetitive and restricted behaviour domain. CONCLUSIONS: PWS cases presented with greater symptoms associated with ASD compared to individuals with AS. Mental health issues associated with PWS may contribute to elevated symptoms of ASD, particularly in adolescents and adults with PWS. En ligne : http://dx.doi.org/10.1186/s11689-018-9242-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386
in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 24 p.[article] Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes [Texte imprimé et/ou numérique] / E. K. BAKER, Auteur ; D. E. GODLER, Auteur ; M. BUI, Auteur ; C. HICKERTON, Auteur ; C. ROGERS, Auteur ; M. FIELD, Auteur ; D. J. AMOR, Auteur ; L. BRETHERTON, Auteur . - 2018 . - 24 p.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 24 p.
Mots-clés : Ados Angelman syndrome Autism Iq Prader-Willi syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders that are caused by abnormal expression of imprinted genes in the 15q11-13 region. Dysregulation of genes located in this region has been proposed as a susceptibility factor for autism spectrum disorder (ASD) in both disorders. METHODS: This study aimed to explore symptoms of ASD in 25 PWS and 19 AS individuals aged between 1 and 39 years via objective assessment. Participants completed the Autism Diagnostic Observation Schedule-2nd Edition (ADOS-2) and a developmentally or age-appropriate intellectual functioning assessment. All participants had their genetic diagnosis confirmed using DNA methylation analysis and microarray testing of copy number changes within the 15q11-13 region. RESULTS: Participants with PWS had significantly higher overall and social affect calibrated severity scores (CSS) on the ADOS-2 compared to AS participants (p = .0055 and .0015, respectively), but the two groups did not differ significantly on CSS for the repetitive and restricted behaviour domain. CONCLUSIONS: PWS cases presented with greater symptoms associated with ASD compared to individuals with AS. Mental health issues associated with PWS may contribute to elevated symptoms of ASD, particularly in adolescents and adults with PWS. En ligne : http://dx.doi.org/10.1186/s11689-018-9242-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386