G01 Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities. (12th September 2022)

• Record Type: Journal Article
• Authors: Pierron, Lucie; Tezenas du Montcel, Sophie; Heinzmann, Anna; Coarelli, Giulia; Héron, Delphine; Heide, Solveig; Herson, Ariane; Hennessy, Juliette; Petit, Elodie; Gargiulo, Marcela; Durr, Alexandra
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 93(2022)Supplement 1
• Page Start: A62
• Page End: A63
• Publication Date: 2022-09-12
• Subjects: Huntington disease -- Genetic counselling -- Reproductive medicine -- Ethics; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp-2022-ehdn.162
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : Background: Low uptake of presymptomatic testing and medically assisted reproduction in families impacted by neurogenetic diseases such as Huntington disease prompted us to investigate how reproductive options are considered and whether there is a relationship with perceived severity of the disease. We hypothesized that self-estimated severity would influence opinion on reproductive options, and that prenatal/preimplantation diagnosis would be a motivation to inform relatives about their risk. Methods: We invited people impacted by neurogenetic diseases to evaluate the severity of their familial disease using analogic visual scales and to answer questionnaires about reproductive choices and intrafamilial communication. We compared answers between diseases and with the perceived severity of each disease. Results: We analyzed 562 questionnaires. Participants were impacted by Huntington disease (n = 307), spinocerebellar ataxias (n = 114), Steinert myotonic dystrophy (n = 82) and amyotrophic lateral sclerosis/frontotemporal dementia (n = 59). Self-estimated severity differed between pathologies (p<0.0001). Overall, participants considered prenatal diagnosis (78.0±34.4/100) and preimplantation diagnosis (75.2±36.1/100) justified more than termination of pregnancy (68.6±38.5/100). They were less in favor of gamete donation (48.3±39.8/100) or pregnancy abstention (43.3±40.3/100). The greater the perceived severity of the disease, the more reproductive options were considered justified, but with a modest correlation. Prenatal/preimplantation diagnosis was a motivation to inform relatives for only 55.3% of participants (p=0.01). Conclusion: Self-estimated severity minimally impacts opinions towards reproductive options. Medically assisted reproduction procedures are rarely sought and do not motivate familial communication.