Repository logo

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

Published version



Change log


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.



Anxiety, Autism, DDX3X, Intellectual disability, Self-injurious behaviour, Humans, Female, Intellectual Disability, Autism Spectrum Disorder, Emotions, Anxiety, Autistic Disorder, DEAD-box RNA Helicases

Journal Title

J Autism Dev Disord

Conference Name

Journal ISSN


Volume Title


Springer Science and Business Media LLC
Newlife – The Charity for Disabled Children (Newlife – The Charity for Disabled Children)
Baily Thomas Charitable Fund (Baily Thomas Charitable Fund)
Medical Research Council (G101400)
Newlife - The Charity for Disabled Children (Newlife - The Charity for Disabled Children)