Social and emotional characteristics of girls and young women with DDX3X-associated intellectual disability: a descriptive and comparative study

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 diagnose...

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Autores principales: Ng-Cordell, Elise, Kolesnik-Taylor, Anna, O’Brien, Sinéad, Astle, Duncan, Scerif, Gaia, Baker, Kate
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9087164/
https://www.ncbi.nlm.nih.gov/pubmed/35536379
http://dx.doi.org/10.1007/s10803-022-05527-w
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author Ng-Cordell, Elise
Kolesnik-Taylor, Anna
O’Brien, Sinéad
Astle, Duncan
Scerif, Gaia
Baker, Kate
author_facet Ng-Cordell, Elise
Kolesnik-Taylor, Anna
O’Brien, Sinéad
Astle, Duncan
Scerif, Gaia
Baker, Kate
author_sort Ng-Cordell, Elise
collection PubMed
description 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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s10803-022-05527-w.
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spelling pubmed-90871642022-05-10 Social and emotional characteristics of girls and young women with DDX3X-associated intellectual disability: a descriptive and comparative study Ng-Cordell, Elise Kolesnik-Taylor, Anna O’Brien, Sinéad Astle, Duncan Scerif, Gaia Baker, Kate J Autism Dev Disord Original Paper 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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s10803-022-05527-w. Springer US 2022-05-10 2023 /pmc/articles/PMC9087164/ /pubmed/35536379 http://dx.doi.org/10.1007/s10803-022-05527-w Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Original Paper
Ng-Cordell, Elise
Kolesnik-Taylor, Anna
O’Brien, Sinéad
Astle, Duncan
Scerif, Gaia
Baker, Kate
Social and emotional characteristics of girls and young women with DDX3X-associated intellectual disability: a descriptive and comparative study
title Social and emotional characteristics of girls and young women with DDX3X-associated intellectual disability: a descriptive and comparative study
title_full Social and emotional characteristics of girls and young women with DDX3X-associated intellectual disability: a descriptive and comparative study
title_fullStr Social and emotional characteristics of girls and young women with DDX3X-associated intellectual disability: a descriptive and comparative study
title_full_unstemmed Social and emotional characteristics of girls and young women with DDX3X-associated intellectual disability: a descriptive and comparative study
title_short Social and emotional characteristics of girls and young women with DDX3X-associated intellectual disability: a descriptive and comparative study
title_sort social and emotional characteristics of girls and young women with ddx3x-associated intellectual disability: a descriptive and comparative study
topic Original Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9087164/
https://www.ncbi.nlm.nih.gov/pubmed/35536379
http://dx.doi.org/10.1007/s10803-022-05527-w
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