Gene functional networks and autism spectrum characteristics in young people with intellectual disability: a dimensional phenotyping study / Diandra BRKI? in Molecular Autism, 11 (2020)  

Public ISBD [article]  inMolecular Autism > 11 (2020) Titre : Gene functional networks and autism spectrum characteristics in young people with intellectual disability: a dimensional phenotyping study Type de document : Texte imprimé et/ou numérique Auteurs : Diandra BRKI?, Auteur ; Elise NG-CORDELL, Auteur ; Sinéad O'BRIEN, Auteur ; Gaia SCERIF, Auteur ; Duncan E. ASTLE, Auteur ; Kate BAKER, Auteur Langues : Anglais (eng) Mots-clés : Anxiety  Autism dimensions  Genetics  Hyperactivity  Intellectual disability Index. décimale : PER Périodiques Résumé : BACKGROUND: The relationships between specific genetic aetiology and phenotype in neurodevelopmental disorders are complex and hotly contested. Genes associated with intellectual disability (ID) can be grouped into networks according to gene function. This study explored whether individuals with ID show differences in autism spectrum characteristics (ASC), depending on the functional network membership of their rare, pathogenic de novo genetic variants. METHODS: Children and young people with ID of known genetic origin were allocated to two broad functional network groups: synaptic physiology (n?=?29) or chromatin regulation (n?=?23). We applied principle components analysis to the Social Responsiveness Scale to map the structure of ASC in this population and identified three components-Inflexibility, Social Understanding and Social Motivation. We then used Akaike information criterion to test the best fitting models for predicting ASC components, including demographic factors (age, gender), non-ASC behavioural factors (global adaptive function, anxiety, hyperactivity, inattention), and gene functional networks. RESULTS: We found that, when other factors are accounted for, the chromatin regulation group showed higher levels of Inflexibility. We also observed contrasting predictors of ASC within each network group. Within the chromatin regulation group, Social Understanding was associated with inattention, and Social Motivation was predicted by hyperactivity. Within the synaptic group, Social Understanding was associated with hyperactivity, and Social Motivation was linked to anxiety. LIMITATIONS: Functional network definitions were manually curated based on multiple sources of evidence, but a data-driven approach to classification may be more robust. Sample sizes for rare genetic diagnoses remain small, mitigated by our network-based approach to group comparisons. This is a cross-sectional study across a wide age range, and longitudinal data within focused age groups will be informative of developmental trajectories across network groups. CONCLUSION: We report that gene functional networks can predict Inflexibility, but not other ASC dimensions. Contrasting behavioural associations within each group suggest network-specific developmental pathways from genomic variation to autism. Simple classification of neurodevelopmental disorder genes as high risk or low risk for autism is unlikely to be valid or useful. En ligne : http://dx.doi.org/10.1186/s13229-020-00403-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=438 [article] Gene functional networks and autism spectrum characteristics in young people with intellectual disability: a dimensional phenotyping study [Texte imprimé et/ou numérique] / Diandra BRKI?, Auteur ; Elise NG-CORDELL, Auteur ; Sinéad O'BRIEN, Auteur ; Gaia SCERIF, Auteur ; Duncan E. ASTLE, Auteur ; Kate BAKER, Auteur. Langues : Anglais (eng) in Molecular Autism > 11 (2020) Mots-clés : Anxiety  Autism dimensions  Genetics  Hyperactivity  Intellectual disability Index. décimale : PER Périodiques Résumé : BACKGROUND: The relationships between specific genetic aetiology and phenotype in neurodevelopmental disorders are complex and hotly contested. Genes associated with intellectual disability (ID) can be grouped into networks according to gene function. This study explored whether individuals with ID show differences in autism spectrum characteristics (ASC), depending on the functional network membership of their rare, pathogenic de novo genetic variants. METHODS: Children and young people with ID of known genetic origin were allocated to two broad functional network groups: synaptic physiology (n?=?29) or chromatin regulation (n?=?23). We applied principle components analysis to the Social Responsiveness Scale to map the structure of ASC in this population and identified three components-Inflexibility, Social Understanding and Social Motivation. We then used Akaike information criterion to test the best fitting models for predicting ASC components, including demographic factors (age, gender), non-ASC behavioural factors (global adaptive function, anxiety, hyperactivity, inattention), and gene functional networks. RESULTS: We found that, when other factors are accounted for, the chromatin regulation group showed higher levels of Inflexibility. We also observed contrasting predictors of ASC within each network group. Within the chromatin regulation group, Social Understanding was associated with inattention, and Social Motivation was predicted by hyperactivity. Within the synaptic group, Social Understanding was associated with hyperactivity, and Social Motivation was linked to anxiety. LIMITATIONS: Functional network definitions were manually curated based on multiple sources of evidence, but a data-driven approach to classification may be more robust. Sample sizes for rare genetic diagnoses remain small, mitigated by our network-based approach to group comparisons. This is a cross-sectional study across a wide age range, and longitudinal data within focused age groups will be informative of developmental trajectories across network groups. CONCLUSION: We report that gene functional networks can predict Inflexibility, but not other ASC dimensions. Contrasting behavioural associations within each group suggest network-specific developmental pathways from genomic variation to autism. Simple classification of neurodevelopmental disorder genes as high risk or low risk for autism is unlikely to be valid or useful. En ligne : http://dx.doi.org/10.1186/s13229-020-00403-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=438

Research methods at the intersection of gender diversity and autism: A scoping review / Elise NG-CORDELL ; Alana J. MCVEY ; Connor M. KERNS in Autism, 28-12 (December 2024)  

Public ISBD [article]  inAutism > 28-12 (December 2024) . - p.2953-2969 Titre : Research methods at the intersection of gender diversity and autism: A scoping review Type de document : Texte imprimé et/ou numérique Auteurs : Elise NG-CORDELL, Auteur ; Alana J. MCVEY, Auteur ; Connor M. KERNS, Auteur Article en page(s) : p.2953-2969 Langues : Anglais (eng) Mots-clés : autism  autism spectrum conditions  autism spectrum disorders  gender diversity  gender dysphoria  methodological quality assessment  research methods  scoping review  trans  transgender Index. décimale : PER Périodiques Résumé : Research has increasingly focused on the intersection between gender diversity and autism. Understanding the foci, methods, and rigor of recent studies could help guide and maximize impact in this accelerating research area. We conducted a scoping review of peer-reviewed literature on this topic published between 2018 and 2023. The search generated 1432 records after deduplication. Included studies (N = 84) were of English language, featured original qualitative or quantitative findings, and examined a psychosocial connection between autism and gender spectra variables. Autism prevalence among gender-diverse people was the most-studied sub-topic. Methodological rigor was acceptable overall; however, we identified recurrent threats to generalizability and validity, including inconsistent conceptualization of constructs (e.g. gender dysphoria), weak participant sampling and characterization, and reliance on unvalidated measures. Addressing these limitations and meaningfully engaging with community shareholders will be critical to enhancing the replicability and clinical impact of future research. Lay Abstract Research has increasingly focused on the intersection between gender diversity and autism. To better understand this literature, this scoping review systematically searched five databases for peer-reviewed literature on gender diversity and autism published between 2018 and 2023. Included studies (N = 84) were of English language, featured original qualitative or quantitative findings, and examined a psychosocial connection between autism and gender spectra variables. Most studies focused on measuring prevalence of autism among gender-diverse individuals. While the overall study rigor was acceptable, weaknesses in measurement, sample selection, and definition of key terms were noted. Promisingly, studies in this area appear to be shifting away from a pathologizing lens and towards research methods that engage in meaningful collaboration with the autistic, gender-diverse community to investigate how to best enhance the quality of life and wellbeing of this population. En ligne : https://dx.doi.org/10.1177/13623613241245595 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=543 [article] Research methods at the intersection of gender diversity and autism: A scoping review [Texte imprimé et/ou numérique] / Elise NG-CORDELL, Auteur ; Alana J. MCVEY, Auteur ; Connor M. KERNS, Auteur . - p.2953-2969. Langues : Anglais (eng) in Autism > 28-12 (December 2024) . - p.2953-2969 Mots-clés : autism  autism spectrum conditions  autism spectrum disorders  gender diversity  gender dysphoria  methodological quality assessment  research methods  scoping review  trans  transgender Index. décimale : PER Périodiques Résumé : Research has increasingly focused on the intersection between gender diversity and autism. Understanding the foci, methods, and rigor of recent studies could help guide and maximize impact in this accelerating research area. We conducted a scoping review of peer-reviewed literature on this topic published between 2018 and 2023. The search generated 1432 records after deduplication. Included studies (N = 84) were of English language, featured original qualitative or quantitative findings, and examined a psychosocial connection between autism and gender spectra variables. Autism prevalence among gender-diverse people was the most-studied sub-topic. Methodological rigor was acceptable overall; however, we identified recurrent threats to generalizability and validity, including inconsistent conceptualization of constructs (e.g. gender dysphoria), weak participant sampling and characterization, and reliance on unvalidated measures. Addressing these limitations and meaningfully engaging with community shareholders will be critical to enhancing the replicability and clinical impact of future research. Lay Abstract Research has increasingly focused on the intersection between gender diversity and autism. To better understand this literature, this scoping review systematically searched five databases for peer-reviewed literature on gender diversity and autism published between 2018 and 2023. Included studies (N = 84) were of English language, featured original qualitative or quantitative findings, and examined a psychosocial connection between autism and gender spectra variables. Most studies focused on measuring prevalence of autism among gender-diverse individuals. While the overall study rigor was acceptable, weaknesses in measurement, sample selection, and definition of key terms were noted. Promisingly, studies in this area appear to be shifting away from a pathologizing lens and towards research methods that engage in meaningful collaboration with the autistic, gender-diverse community to investigate how to best enhance the quality of life and wellbeing of this population. En ligne : https://dx.doi.org/10.1177/13623613241245595 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=543

Social and emotional characteristics of girls and young women with DDX3X-associated intellectual disability: a descriptive and comparative study / Elise NG-CORDELL in Journal of Autism and Developmental Disorders, 53-8 (August 2023)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 53-8 (August 2023) . - p.3208-3219 Titre : Social and emotional characteristics of girls and young women with DDX3X-associated intellectual disability: a descriptive and comparative study Type de document : Texte imprimé et/ou numérique Auteurs : Elise NG-CORDELL, Auteur ; Anna KOLESNIK-TAYLOR, Auteur ; Sinéad O?BRIEN, Auteur ; Duncan ASTLE, Auteur ; Gaia SCERIF, Auteur ; Kate BAKER, Auteur Article en page(s) : p.3208-3219 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : DDX3X variants are a common cause of intellectual disability (ID) in females, and have been associated with autism spectrum disorder and emotional-behavioural difficulties. In this study, we compared phenotypic data for 23 females with DDX3X variants, to 23 females with ID and other genetic diagnoses. We found a wide range of adaptive, social and emotional function within the DDX3X group. Autism characteristics did not differ between DDX3X and comparison groups, while levels of anxiety and self-injurious behaviour (SIB) were significantly higher in the DDX3X group. Within the DDX3X group, adaptive function, autism characteristics, anxiety and SIB scores were positively correlated, with evidence for group-specific associations with SIB. Future work is warranted to explore the multilevel mechanisms contributing to social and emotional development in individuals with DDX3X variants. En ligne : https://doi.org/10.1007/s10803-022-05527-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=508 [article] Social and emotional characteristics of girls and young women with DDX3X-associated intellectual disability: a descriptive and comparative study [Texte imprimé et/ou numérique] / Elise NG-CORDELL, Auteur ; Anna KOLESNIK-TAYLOR, Auteur ; Sinéad O?BRIEN, Auteur ; Duncan ASTLE, Auteur ; Gaia SCERIF, Auteur ; Kate BAKER, Auteur . - p.3208-3219. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 53-8 (August 2023) . - p.3208-3219 Index. décimale : PER Périodiques Résumé : DDX3X variants are a common cause of intellectual disability (ID) in females, and have been associated with autism spectrum disorder and emotional-behavioural difficulties. In this study, we compared phenotypic data for 23 females with DDX3X variants, to 23 females with ID and other genetic diagnoses. We found a wide range of adaptive, social and emotional function within the DDX3X group. Autism characteristics did not differ between DDX3X and comparison groups, while levels of anxiety and self-injurious behaviour (SIB) were significantly higher in the DDX3X group. Within the DDX3X group, adaptive function, autism characteristics, anxiety and SIB scores were positively correlated, with evidence for group-specific associations with SIB. Future work is warranted to explore the multilevel mechanisms contributing to social and emotional development in individuals with DDX3X variants. En ligne : https://doi.org/10.1007/s10803-022-05527-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=508

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