Alexis Ruber

Date of Award


Degree Type



Biological Sciences

Director of Thesis

Jessica Klusek

Second Reader

Jane Roberts


Background. Mothers of children with fragile X syndrome (FXS) have the FMR1 premutation, which affects approximately 1 in 151 women (Seltzer et al., 2012). Women with the FMR1 premutation display elevated social anxiety (Bourgeois et al., 2011), which has been linked with higher levels of gaze anxiety and avoidance in other clinical groups (Schneider et al., 2011). While several studies have suggested women with FMR1 premutation have reduced eye contact (Tassone et al., 2000; Losh, Klusek et al., 2012; Riddle et al., 1998), no study has empirically examined reduced eye contact in the female FMR1 premutation. Like their children with FXS, women with the FMR1 premutation may be slow to warm-up socially (Roberts et al., 2007), resulting in better eye contact toward the end of social interactions. Objective. This study examined reduced eye contact in relation to social and general anxiety in 43 women with the FMR1 premutation compared to 28 control women without the FMR1 premutation. Methods. Eye contact during the first and last minutes of a semi-structured conversational sample was rated independently by two blind raters on a 5-point scale and consensus scores were produced. Social anxiety was measured with the Liebowitz Social Anxiety Scale (LSAS; Liebowitz et al., 1987) and general anxiety was measured with the Beck Anxiety Inventory (BAI; Beck, 1990). Results. A mixed model testing group, condition, and their interaction indicated significant effects of group (F [1, 65] = 6.68, p = .012) and condition (F [1, 65] = 18.65, p < .0001); their interaction was not significant (p=.556). Secondary mixed models adding social anxiety or general anxiety as predictors indicated no significant effect of social anxiety (p=.415) or general anxiety (p = .214). Conclusions. Both groups exhibited a warm-up effect; however, women with the FMR1 premutation had overall reduced eye contact during both initial and final conditions compared to control women. Neither social anxiety nor general anxiety was related to reduced eye contact in the FMR1 premutation, suggesting reduced eye contact is a feature of the premutation phenotype independent of social anxiety and general anxiety.

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