Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Détail de l'auteur
Auteur Elise NG-CORDELL |
Documents disponibles écrits par cet auteur (2)
Faire une suggestion Affiner la recherche
Gene functional networks and autism spectrum characteristics in young people with intellectual disability: a dimensional phenotyping study / Diandra BRKI? in Molecular Autism, 11 (2020)
[article]
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
in Molecular Autism > 11 (2020)[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 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)
[article]
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
in Journal of Autism and Developmental Disorders > 53-8 (August 2023) . - p.3208-3219[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