Date of Award

2025

Document Type

Open Access Thesis

Department

Genetic Counseling

First Advisor

Debera Zvejnieks

Abstract

Tuberous Sclerosis Complex (TSC) is a genetic condition that is caused by pathogenic changes in either the TSC1 or TSC2 gene and is characterized by multiple benign tumors, otherwise known as hamartomas, in various organs such as the brain, skin, lungs, and kidneys. Because of the many different clinical manifestations of TSC, extensive surveillance guidelines are recommended for individuals with TSC. Past studies have shown that there has been a gap in knowledge of these surveillance guidelines. These studies also suggest projects that measure adherence to surveillance guidelines and address specific challenges hindering surveillance guideline adherence. This study aims to identify any underlying factors contributing to surveillance adherence in individuals with TSC and their caregivers by investigating knowledge of surveillance guidelines and attitudes toward guidelines. We performed a mixed-methods study consisting of individuals with TSC, parents/caregivers of individuals with TSC, and those who had both TSC and are caregivers of someone with TSC. 129 responses from an electronic questionnaire via RedCap were used in data analysis, and 23 semi-structured video interviews were completed. Interviews and open-ended responses to our survey were analyzed by grouping them into categories based on recurring topics. The guidelines with the highest percentage of information provided by a healthcare professional were brain imaging in children (97.6%) and renal imaging in adults (93.2%), notably the leading causes of morbidity and mortality in individuals with TSC. In both adults and children, genetic testing and counseling at initial diagnosis had the lowest reported percentage (54.1% in adults, 59.1% in children). Most individuals (86.8%) believed TSC surveillance effectively managed their care. We also discussed survey factors statistically significant to adherence to the guidelines, including attending a TSC clinic, seeing a genetic counselor, and having specific clinical manifestations. While further studies are needed, the findings from this survey highlight key factors influencing adherence to TSC surveillance guidelines, which may help healthcare providers improve management strategies, communication, and awareness surrounding surveillance.

Rights

© 2025, Kashish Khanna

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