Influence of exome sequencing results on caregiver adaptation and representations of neurodevelopmental disorders

Background: Technology is evolving to detect and facilitate interpretation of genomic variants associated with neurodevelopmental disorders (NDD). With a current diagnostic yield of 25-40%, exome sequencing (ES) is postured to become a first-tier testing strategy for individuals with NDD. However, the psychological sequelae for caregivers of children with NDD following genetic testing are still poorly characterized, as are the ways their experiences may differ by the type of ES results returned. Past research shows that parental cognitive appraisals related to a child’s medical or developmental condition (illness representations) are predictive of behavioral and psychological outcomes. This suggests that illness representations may shape caregivers’ trajectories following genetic testing, including the process of adapting to their child’s NDD. Objective: Our study aimed to characterize the ways in which types of ES results affect caregivers’ perceptions of their child’s NDD and uncertainty about their child’s health. We also aimed to describe how appraisals of the NDD influence caregivers’ psychological adaptation and emotional distress, and to delineate the role of time in these relationships. Methods: A total of 1,151 caregivers of children who had undergone ES for an NDD were contacted to participate in an online survey. Participants were recruited through two pediatric genetics clinics in Baltimore. Results: A total of 190 participants completed the survey. Caregiver perceptions of treatment control and coherence significantly differed across categories of ES results (positive, negative, or VUS), as did overall uncertainty and several domains of uncertainty. Trends in the data indicated that caregivers’ greater sense of personal control over their child’s NDD, weaker unfavorable feelings associated with the NDD, and receiving a VUS vs. a negative ES result are associated with better adaptation. Negative emotion associated with the NDD was the only significant predictor for the emotional distress outcomes. No association was found between time and the other variables of interest. Discussion: This study deepens our understanding of caregivers’ cognitive, affective, and adaptive processes following the disclosure of results from ES. Findings from this study carry implications for pre- and post-test genetic counseling, enabling clinicians to better tailor information, resources, and counseling interventions to families with NDD