Abstracts

Rationale: Perceptions of heritability in epilepsy have been shown to affect reproductive decision-making. We used several measures of genetic attribution, including estimated risk of epilepsy in offspring, to assess the effect of perceived genetic risk on factors relevant to reproductive decision-making. Methods: We are currently 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 preliminary results on 324 individuals (135 with epilepsy, 189 unaffected relatives) who completed the survey as of May 1, 2014. Participants were asked to estimate the risk that a child would develop epilepsy if one of his or her parents were affected, as well as the general population risk. Three additional questions were included 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?" In addition, questions about completed and desired fertility were asked of all participants, as were questions about the influence of epilepsy-related factors in reproductive decision-making. Results: We confirmed earlier research showing that affected individuals had fewer children than their unaffected siblings (mean 1.5 vs. 2.1 among participants ≥35 years, p=0.07). 22% of affected individuals responded yes to the question, "Do you think you would have wanted more (or any) children if you had not had epilepsy?" The proportion who answered yes to this question was significantly greater among women than men (31 vs. 9%, p=0.005). People with epilepsy estimated higher risk of epilepsy in offspring of affected individuals than did their unaffected relatives (28 vs. 19 per 100 offspring, p=0.01); both were overestimated. However, the proportion of individuals who said they would have wanted more children if they had not had epilepsy was not related to estimated risk in offspring or to any of the other three genetic attribution measures. Among people with epilepsy aged ≥35 years, those who said they would have wanted more children if they had not had epilepsy had significantly fewer offspring than others (mean 1.2 vs. 1.9 p=0.027), but number of offspring was not associated with estimated offspring risk or other measures of genetic attribution. Conclusions: Neither perceived risk to offspring nor genetic attribution affects the fertility intentions or behaviors of people with epilepsy. This research was supported by R01 NS078419.