Genetic causal attribution of epilepsy and its implications for felt stigma

Abstract

Summary Objective Research in other disorders suggests that genetic causal attribution of epilepsy might be associated with increased stigma. We investigated this hypothesis in a unique sample of families containing multiple individuals with epilepsy. Methods 181 people with epilepsy and 178 biological relatives without epilepsy completed a self-administered survey. In people with epilepsy, felt stigma was assessed through the Epilepsy Stigma Scale (ESS), scored 1 to 7 with higher scores indicating more stigma and >4 indicating some felt stigma. Felt stigma related to having epilepsy in the family was assessed through the Family Epilepsy Stigma Scale (FESS), created by replacing “epilepsy” with “epilepsy in my family” in each ESS item. Genetic attribution was assessed through participants’ perceptions of the (1) role of genetics in causing epilepsy in the family, (2) chance they had an epilepsy-related mutation, and (3) (in people with epilepsy) influence of genetics in causing their epilepsy. Results Among people with epilepsy, 22% met criteria for felt stigma (ESS score >4). Scores were increased among individuals who were aged ≥60 years, were unemployed, reported epilepsy-related discrimination, or had seizures within the last year or >100 seizures in their lifetime. Adjusting for other variables, ESS scores in people with epilepsy were significantly higher among those who perceived genetics played a “medium” or “big” role in causing epilepsy in the family than in others (3.4 vs. 2.7, p=0.025). Only 4% of relatives without epilepsy had felt stigma. Scores in relatives were unrelated to genetic attribution. Significance In these unusual families, predictors of felt stigma in individuals with epilepsy are similar to those in other studies, and stigma levels are low in relatives without epilepsy. Felt stigma may be increased in people with epilepsy who believe epilepsy in the family has a genetic cause, emphasizing the need for sensitive communication about genetics.

Genetic attribution and perceived impact of epilepsy in multiplex epilepsy families

“…18 To assess the associations between genetic attribution and impact of epilepsy, we used generalized linear models with robust Poisson regression to compute prevalence ratios (PRs) evaluating the relative likelihood of having a "high" score on the IES. Covariates associated with both the exposure and outcome using an alpha level of .2 were considered for inclusion in the final model if they were not hypothesized to be on the causal pathway between exposure and outcome.…”

“…The current analysis is part of a larger exploration of the psychosocial impact of genetic attribution and receipt of actual genetic test results in families with multiple individuals with epilepsy. 18 Additionally, among family members without epilepsy, the perceived chance of having an epilepsy-related mutation was associated with increased prevalence of depressive symptoms. 16,17 Also, felt stigma was higher in people with epilepsy who attributed their disorder to a genetic cause than in others.…”

Sociocultural aspects and different types of stigmatization in epilepsy

“…Высокий уровень интернализованной стигмы связан с низким социально-экономическим статусом [12], семей-ным положением [13], безработицей [14], низким уровнем медицинской грамотности [15], несоблюдением предписан-ного лечения [16], сокрытием диагноза, частотой приступов [17]. Женский пол, ранний возраст начала заболевания, на-личие генерализованных тонико-клонических приступов также повышают вероятность стигматизации [18].…”

“…По данным M. Chesaniuk и соавт. [14], почти треть (31%) пациентов умалчивают о своем диагнозе сразу после его обнаруже-ния, а более чем две трети (69%) -не говорят о нем в те-чение всей своей жизни. Это свидетельствует о том, что сокрытие диагноза не является следствием начального шока или его неточности, а, напротив, это сознательная стратегия.…”

Stigmatization of patients with epilepsy

“…Высокий уровень самостигматизации связан с такими факторами, как низкий социально-экономический статус [14], семейное положение [15], трудности с трудоустройст-вом [16], низкий уровень медицинской грамотности [17], несоблюдение предписанного лечения [18], сокрытие диаг-ноза, количество приступов [19].…”