Date of Award

Spring 2019

Document Type

Open Access Thesis

Department

Genetic Counseling

First Advisor

Debera Zvejnieks

Abstract

Tuberous Sclerosis Complex (TSC) is a highly variable autosomal dominant multisystem disorder characterized by the growth of benign tumors, epilepsy, and TSC- associated neuropsychiatric disorders (TAND). There is a high level of clinical variability, even within the same family. While reproductive decisions always carry a level of uncertainty, individuals with highly variable genetic conditions like TSC must consider both the chance of passing on the condition and the uncertain clinical presentation. There is currently no literature on factors influencing reproductive decisions of adults with TSC. To address this gap in understanding, we conducted an exploratory mixed-methods survey utilizing an anonymous online questionnaire to assess study participants’: 1) familiarity with the symptoms of TSC, 2) understanding of the risk of passing on TSC, 3) perceived disease burden/quality of life, and 4) family planning considerations. A total of 175 individuals aged 18-45 who were diagnosed with TSC were included in the final data set. Participants were highly familiar with symptoms of TSC with an average symptom knowledge score of 86.64%. Cortical tubers, angiofibromas, angiomyolipomas, and seizures were recognized as symptoms of TSC by more than 95% of participants. Lymphangioleiomyomatosis (LAM) was the least recognized symptom (75.29%), with females being statistically more likely to recognize the symptom than males. Most participants (85.96%) were aware of the 50% recurrence risk of TSC. Perceived disease burden was low with 58.58% viewing themselves as mildly or very mildly affected. Our disease burden/quality of life instrument found that a majority of participants reported that they felt different from those around them, that they were frustrated by their symptoms, that their symptoms made them anxious, and that they thought about their TSC at least some of the time. Sleep disturbance and pain caused by TSC were also common. However, a majority of participants felt like they were in control of their lives, felt good about their social life, felt comfortable meeting new people, and felt they had the support they needed. Around 60% of our study population was considering having future children with the average desired number of children equaling 2.25. Reproductive methods being considered included traditional conception (52.94%), adoption (45.10%), donor gametes or embryos (17.64%), and preimplantation genetic diagnosis ([PGD], 50.00%). Thematic analysis showed desire for biological children, personal health, desire to not pass on TSC, financial concerns, and fertility issues were major factors in choice of reproductive method. Interest in prenatal testing was high with 67.44% stating they would test a hypothetical future pregnancy. Thematic analysis showed being informed, considering termination of pregnancy, and accepting whatever happens as major themes for individuals’ interest or lack thereof in prenatal testing. While more studies are needed, the results of this survey will help genetic counselors address reproductive concerns of clients with TSC. In particular, this study points to education gaps in TSC clinical symptoms and the underlying genetics which should be addressed by genetic counselors and other health professionals who are counseling adults with TSC.

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