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Détail de l'auteur
Auteur S. O'BRIEN |
Documents disponibles écrits par cet auteur (2)
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In Our Own Words: The Complex Sensory Experiences of Autistic Adults / K. MACLENNAN in Journal of Autism and Developmental Disorders, 52-7 (July 2022)
[article]
Titre : In Our Own Words: The Complex Sensory Experiences of Autistic Adults Type de document : Texte imprimé et/ou numérique Auteurs : K. MACLENNAN, Auteur ; S. O'BRIEN, Auteur ; Teresa TAVASSOLI, Auteur Article en page(s) : p.3061-3075 Langues : Anglais (eng) Mots-clés : Adult Autism Spectrum Disorder/complications Autistic Disorder/complications Humans Quality of Life Surveys and Questionnaires Autism Autistic Participatory Qualitative Sensory content of this article. Index. décimale : PER Périodiques Résumé : Autistic adults commonly experience sensory reactivity differences. Sensory hyperreactivity is frequently researched, whilst hyporeactivity and seeking, and experiences across domains, e.g., vision, are often neglected. Therefore, we aimed to understand more about the sensory experiences of autistic adults. We conducted a mixed-methods study, co-produced with stakeholders; recruiting 49 autistic adults who completed an online survey. Firstly, quantitative results and content analysis enhanced our understanding of sensory input/contexts associated with sensory hyperreactivity, hyporeactivity, and seeking across modalities. Secondly, thematic analysis developed themes relating to 'Outcomes', 'Control', 'Tolerance and management', and 'The role of other people', informing a theoretical model of sensory reactivity differences in autistic adults. These findings have implications for support services and improving quality of life for autistic adults. En ligne : http://dx.doi.org/10.1007/s10803-021-05186-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=477
in Journal of Autism and Developmental Disorders > 52-7 (July 2022) . - p.3061-3075[article] In Our Own Words: The Complex Sensory Experiences of Autistic Adults [Texte imprimé et/ou numérique] / K. MACLENNAN, Auteur ; S. O'BRIEN, Auteur ; Teresa TAVASSOLI, Auteur . - p.3061-3075.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-7 (July 2022) . - p.3061-3075
Mots-clés : Adult Autism Spectrum Disorder/complications Autistic Disorder/complications Humans Quality of Life Surveys and Questionnaires Autism Autistic Participatory Qualitative Sensory content of this article. Index. décimale : PER Périodiques Résumé : Autistic adults commonly experience sensory reactivity differences. Sensory hyperreactivity is frequently researched, whilst hyporeactivity and seeking, and experiences across domains, e.g., vision, are often neglected. Therefore, we aimed to understand more about the sensory experiences of autistic adults. We conducted a mixed-methods study, co-produced with stakeholders; recruiting 49 autistic adults who completed an online survey. Firstly, quantitative results and content analysis enhanced our understanding of sensory input/contexts associated with sensory hyperreactivity, hyporeactivity, and seeking across modalities. Secondly, thematic analysis developed themes relating to 'Outcomes', 'Control', 'Tolerance and management', and 'The role of other people', informing a theoretical model of sensory reactivity differences in autistic adults. These findings have implications for support services and improving quality of life for autistic adults. En ligne : http://dx.doi.org/10.1007/s10803-021-05186-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=477 STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics / S. O'BRIEN in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)
[article]
Titre : STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics Type de document : Texte imprimé et/ou numérique Auteurs : S. O'BRIEN, Auteur ; E. NG-CORDELL, Auteur ; Duncan E. ASTLE, Auteur ; G. SCERIF, Auteur ; K. BAKER, Auteur Article en page(s) : 17 p. Langues : Anglais (eng) Mots-clés : Epilepsy Intellectual disability Language Stxbp1 Social Index. décimale : PER Périodiques Résumé : BACKGROUND: De novo loss of function mutations in STXBP1 are a relatively common cause of epilepsy and intellectual disability (ID). However, little is known about the types and severities of behavioural features associated with this genetic diagnosis. METHODS: To address this, we collected systematic phenotyping data encompassing neurological, developmental, and behavioural characteristics. Participants were 14 individuals with STXBP1-associated neurodevelopmental disorder, ascertained from clinical genetics and neurology services UK-wide. Data was collected via standardised questionnaires administered to parents at home, supplemented by researcher observations. To isolate discriminating phenotypes, the STXBP1 group was compared to 33 individuals with pathogenic mutations in other ID-associated genes (ID group). To account for the potential impact of global cognitive impairment, a secondary comparison was made to an ability-matched subset of the ID group (low-ability ID group). RESULTS: The STXBP1 group demonstrated impairments across all assessed domains. In comparison to the ID group, the STXBP1 group had more severe global adaptive impairments, fine motor difficulties, and hyperactivity. In comparison to the low-ability ID group, severity of receptive language and social impairments discriminated the STXBP1 group. A striking feature of the STXBP1 group, with reference to both comparison groups, was preservation of social motivation. CONCLUSIONS: De novo mutations in STXBP1 are associated with complex and variable neurodevelopmental impairments. Consistent features, which discriminate this disorder from other monogenic causes of ID, are severe language impairment and difficulties managing social interactions, despite strong social motivation. Future work could explore the physiological mechanisms linking motor, speech, and social development in this disorder. Understanding the developmental emergence of behavioural characteristics can help to focus clinical assessment and management after genetic diagnosis, with the long-term aim of improving outcomes for patients and families. En ligne : https://dx.doi.org/10.1186/s11689-019-9278-9 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) . - 17 p.[article] STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics [Texte imprimé et/ou numérique] / S. O'BRIEN, Auteur ; E. NG-CORDELL, Auteur ; Duncan E. ASTLE, Auteur ; G. SCERIF, Auteur ; K. BAKER, Auteur . - 17 p.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 17 p.
Mots-clés : Epilepsy Intellectual disability Language Stxbp1 Social Index. décimale : PER Périodiques Résumé : BACKGROUND: De novo loss of function mutations in STXBP1 are a relatively common cause of epilepsy and intellectual disability (ID). However, little is known about the types and severities of behavioural features associated with this genetic diagnosis. METHODS: To address this, we collected systematic phenotyping data encompassing neurological, developmental, and behavioural characteristics. Participants were 14 individuals with STXBP1-associated neurodevelopmental disorder, ascertained from clinical genetics and neurology services UK-wide. Data was collected via standardised questionnaires administered to parents at home, supplemented by researcher observations. To isolate discriminating phenotypes, the STXBP1 group was compared to 33 individuals with pathogenic mutations in other ID-associated genes (ID group). To account for the potential impact of global cognitive impairment, a secondary comparison was made to an ability-matched subset of the ID group (low-ability ID group). RESULTS: The STXBP1 group demonstrated impairments across all assessed domains. In comparison to the ID group, the STXBP1 group had more severe global adaptive impairments, fine motor difficulties, and hyperactivity. In comparison to the low-ability ID group, severity of receptive language and social impairments discriminated the STXBP1 group. A striking feature of the STXBP1 group, with reference to both comparison groups, was preservation of social motivation. CONCLUSIONS: De novo mutations in STXBP1 are associated with complex and variable neurodevelopmental impairments. Consistent features, which discriminate this disorder from other monogenic causes of ID, are severe language impairment and difficulties managing social interactions, despite strong social motivation. Future work could explore the physiological mechanisms linking motor, speech, and social development in this disorder. Understanding the developmental emergence of behavioural characteristics can help to focus clinical assessment and management after genetic diagnosis, with the long-term aim of improving outcomes for patients and families. En ligne : https://dx.doi.org/10.1186/s11689-019-9278-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409