Abstracts

Rationale: Despite some improvements over time, epilepsy remains a stigmatized disorder. We investigated predictors of felt stigma in families containing multiple affected individuals, focusing on the possible impact of attribution of epilepsy to a genetic cause. Methods: We are surveying previous participants in epilepsy genetics research, to assess the psychosocial impact of having a personal or family history of epilepsy, beliefs about epilepsy genetics, and interest in genetic testing. The survey will target more than 1,000 adult members of 115 families containing multiple individuals with epilepsy (average 4 affected per family). Among 568 participants contacted so far, 490 (86%) have agreed to participate. Here we report results on 324 individuals (135 with epilepsy, 189 unaffected relatives) who completed the survey as of May 1, 2014. To assess stigma in affected individuals, we used the Epilepsy Stigma Scale (ESS), a previously validated 10-item scale that assesses respondents' belief that epilepsy is negative and interferes with relationships. Each item is scored from 1=strongly disagree to 7=strongly agree, with higher scores indicating more stigma. To assess felt stigma related to having epilepsy in the family (in both affected and unaffected individuals), we created a Family Epilepsy Stigma Scale (FESS) by replacing "epilepsy" with "epilepsy in my family" in each of the 10 items. In the current study, Cronbach's alpha was 0.93 for ESS and 0.92 for FESS. We used 3 questions to assess participants' attribution of epilepsy to a genetic cause: "In your opinion, how big a role has genetics had in causing the epilepsy in your family?," "What do you think the chances are that you have a change or mutation in a gene that affects risk for epilepsy?," and (in people with epilepsy), "How much do you think genetics or inheritance influenced your risk of developing epilepsy?" Results: ESS scores in individuals with epilepsy averaged 2.8 (SD 1.46), and did not differ by sex, age, or education. Mean ESS scores were higher among individuals whose last seizure was less than 5 vs. ≥5 years ago (3.2 vs. 2.4, p=0.004), who had had more than 100 vs. fewer seizures in their lifetime (3.3 vs. 2.6, p=0.012), or who had focal vs. generalized epilepsy (2.9 vs. 2.3, p=0.057). Mean ESS scores were not associated with any of the three measures of genetic attribution. FESS scores were significantly higher in affected individuals than in their unaffected relatives (2.6 vs. 1.8, p<0.001). In unaffected relatives, FESS scores were unrelated to any of the demographic variables, but were significantly higher among individuals who believed they had a "moderate" or "high" chance of having an epilepsy-related mutation vs. others (2.0 vs. 1.6, p=0.031). Conclusions: In this study of families with multiple individuals with epilepsy, the strongest predictors of felt stigma were related to severity of epilepsy. Among unaffected family members, levels of felt stigma were low overall, but may be higher among those who believe they may have an epilepsy-related mutation. This research was supported by R01 NS078419.