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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Detalles Bibliográficos
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
Descripción
Sumario: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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