Social Attention Profiles in Families with Autism and Fragile X Syndrome: Why Context Matters

Winston, Molly

doi:https://doi.org/10.21985/n2-sevg-y929

Work

Social Attention Profiles in Families with Autism and Fragile X Syndrome: Why Context Matters

Public

Download PDF

Download All Files (.zip)

Autism spectrum disorder (ASD) is a heritable, neurodevelopmental disorder characterized by social impairments and restricted and repetitive behaviors (American Psychiatric Association, 2013; Tick, Bolton, Happe, Rutter, & Rijsdijk, 2016), with a subset of first-degree relatives demonstrating a constellation of subclinical traits that are qualitatively similar to the defining features of ASD including subtle differences in social communication and social cognition as well as rigid and aloof personality styles (Landa et al., 1992; Piven, Palmer, Jacobi, Childress, & Arndt, 1997), which are believed to index genetic liability to ASD. Fragile X syndrome (FXS) is a monogenic disorder resulting from a mutation in the Fragile X Mental Retardation gene (FMR1), in which >75% of individuals present with symptoms consistent with ASD, even if they do not meet full diagnostic criteria (Hernandez et al., 2009). Furthermore, individuals who carry the premutation (PM) form of the gene, typically mothers and siblings of those with FXS, often demonstrate the similar subclinical characteristics that are present in first-degree relatives of individuals with ASD including similar personality features, differences in social language, and social cognitive abilities (Losh et al., 2012). Therefore, studying FXS and the PM may provide insight into how variation of the FMR1 gene may contribute to ASD-related features.Patterns of gaze (i.e., time spent fixating on stimuli) and eye movement (i.e., transitions from one stimuli to another, repeated fixations) are of particular interest in the search for markers of underlying mechanisms contributing to ASD features given evidence of some shared atypical gaze patterns in ASD and FXS as well as in parents of individuals with ASD and PM carriers, such as reduced gaze-language coordination and less time looking at the eye-region of the face (Farzin, Rivera, & Hessl, 2009; Klin, Jones, Schultz, Volkmar, & Cohen, 2002; Nayar et al., 2018; Nayar et al., 2019). These visual attention patterns may be heritable (Constantino et al., 2017) and relate to ASD symptomatology (Frazier et al., 2016) within ASD and the general population. This project proposes multi-method analyses applying advanced statistical modeling of both gaze and eye movement across an array of social stimuli in individuals with ASD and FXS, parents of individuals with ASD, PM carriers, and respective control groups to examine the hypothesis that atypical patterns of visual attention across specific tasks and time windows can be used to predict diagnostic group membership and identify etiologically homogenous subgroups. The results of this study demonstrated the ability to create profiles that were highly predictive of ASD in males and females as well as parents of individuals with ASD across social eye-tracking tasks using metrics of dwell time and eye movement. Some profiles were able to discriminate between both controls and clinically overlapping subgroups, although there was variability in the results, suggesting overlap between diagnostic groups. Furthermore, the discriminability of these profiles were dependent on context and variable choice. In examining predictability of patterns of dwell time across time as well as within discrete task components using thin slices of data, evidence indicates that success of group prediction may be affected by the timing of stimulus presentation and specific task-related components (i.e., specific events in a picturebook). Finally, results revealed evidence of latent classes across tasks that were dependent on looking patterns across time. These classes demonstrated differences in ASD-related characteristics and FMR1-related molecular genetic variation across diagnostic boundaries. Together, these findings support the use of patterns of gaze and fixation in certain social stimuli as endophenotypes in ASD research and as a clinical tool with caveats that results are dependent on context, variable choice, and timing of stimulus presentation.

Creator