To evaluate 1) quality of life for families of individuals with DDX3X syndrome and 2) the relationship between features of autism and quality of life (QoL) in this population. 

DDX3X syndrome is a rare genetic condition associated with intellectual disability that primarily affects females. Associated symptoms include hypotonia, behavioral challenges, language impairment, among others. At present, no studies have investigated the impact of DDX3X syndrome symptoms on reported QoL.

Primary caregivers (N = 23) of individuals (1 - 23 years) with DDX3X syndrome completed two measures: 1) The QoL Inventory-Disability (QI-Disability; a 32-item parent-report scale validated for individuals with intellectual disability, with six subdomains: Social Interaction, Negative Emotions, Leisure and the Outdoors, Independence, Physical Health, and Positive Emotions), 2) the 40-item Social Communication Questionnaire (SCQ; a parent-report tool measuring features of autism). Spearman’s correlations were computed between the SCQ total score and the QI-Disability subscale scores and total scores (N = 23).  

A significant negative correlation was observed between the SCQ total score and the QI-Disability total score (rho = -.606, p = .002), suggesting that greater autism symptomatology corresponds to reduced overall QoL. Additional negative correlations were observed between the SCQ total score and the Social Interaction (rho = -.660, p < .001), the Independence (rho = -.446, p = .033), and the Positive Emotions (rho = -.447, p = .032) subdomains.

This study provides initial evidence suggesting that features of autism strongly impact the QoL of individuals with DDX3X syndrome, where social interactions, independence, and positive emotions are critical determinants of overall QoL in this patient population. Focusing therapeutic strategies on autism symptoms and enhancing independence and adaptive functions, such as communication and daily living skills, may offer meaningful avenues for intervention, however larger sample sizes exploring these relationships are needed.