Family Response to Autism Recurrence Risk: Implications for Early MRI Prediction

Background: Emerging MRI-based predictive testing approaches have been developed to predict the diagnosis of Autism Spectrum Disorder (ASD) at 24 months from classification of 6-month structural and functional MRI data in high-risk infants (Emerson et al., 2017; Hazlett et al., 2017). Although this type of predictive testing is not yet available outside of the research context, it is critical to understand parent motivations for such testing prior to disclosing predictive risk information to families.

Objectives: We investigated perceptions of risk for ASD in a cohort of parents involved in an MRI study of infants at high familial risk. The goal was to explore parent reactions to perceived autism recurrence risk as a first step towards understanding motivations to seek early predictive testing.

Methods: 37 interviews were conducted with parents enrolled in the Infant Brain Imaging Study (IBIS), a longitudinal, multi-site study of early brain and behavioral development in infants at high and low familial risk for ASD. High-risk families had at least one older child with ASD, and an infant aged 3-15 months enrolled in IBIS. A codebook was developed, tested, revised by consensus, and applied to the interview data. Coding reports were reviewed and used to develop a set of emerging themes, informed by the Common Sense Model (Fig. 1; Diefenbach & Leventhal, 1996).

Results: Parents were aware that their infants were at increased risk of ASD, and most who provided quantitative estimates overestimated the risk. Parent perceptions of their infant's vulnerability to ASD were heterogenous, and informed by comparisons made to their affected child. Noted similarities to the older sibling were associated with increased worry, while differences tended to relieve worry. Parents reported a variety of emotional responses to perceived vulnerability, including worry, fear, and sadness. Behaviorally, many parents reported being watchful or vigilant for early signs of ASD. Some parents reported that their knowledge of recurrence risk affected their reproductive decisions (though an approximately equal number reported no impact on family planning), and a few parents reported effects on other healthcare decisions (e.g., choosing to not vaccinate). Parents also described cognitive efforts to cope with uncertainty, such as perceiving ASD risk as out of their control, or reflecting on how prior experience has prepared them to accept and/or manage another ASD diagnosis.

Conclusions: As the field of autism research moves towards earlier identification via brain-based biomarkers, this study provides novel insights into the perspectives and motivations of families who might seek predictive MRI testing. Among this group of parents—“early adopters” of infant MRI in the research setting—enrolling in research and obtaining regular developmental testing appears to be an active coping effort in response to perceived vulnerability. Parents are looking for ways to manage the uncertainty associated with their infant’s increased risk, and MRI testing could provide a more precise estimate of that risk. Future studies will build upon these results and investigate potential strategies for supporting parents before and after the receipt of predictive risk information.