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

Journal article

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.

Authors: Ng-Cordell, E; Kolesnik-Taylor, A; O’Brien, S; Astle, D; Scerif, G

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Springer
• Journal: Journal of Autism and Developmental Disorders
• Volume: 53
• Issue: 8
• Pages: 3208-3219
• Publication date: 2022-05-10
• DOI: 10.1007/s10803-022-05527-w
• EISSN: 1573-3432
• ISSN: 0162-3257
• Language: English
• Keywords: Autism; Developmental psychology; Clinical psychology; Anxiety; Psychology; Autism spectrum disorder; Psychiatry; Intellectual disability