Objective:

To evaluate barriers to Tuberous Sclerosis Complex (TSC) surveillance and management during the transition to adult specialty care and identify factors associated with missed screenings and disease severity in adult patients.

Background:

TSC is a multi-system genetic disorder requiring lifelong surveillance across multiple specialties. Transitioning to adult specialty care presents high risk for lapses in surveillance and management, particularly for patients without access to a comprehensive multidisciplinary program.

Design/Methods:

We conducted a retrospective chart review of 33 adults with genetically or clinically confirmed TSC who transitioned into adult care between April 2024 and July 2025. Screening adherence across six domains was assessed using the 2021 TSC Alliance guidelines. Social determinants of health (SDoH) were evaluated across 13 domains. Linear regression was used to analyze the association between transition delay, SDoH burden, and number of missed screenings. Logistic regression evaluated associations with disease burden, including seizure control and malignancy.

Results:

Uncontrolled seizures were found in 63.6% of patients. Malignancy, including renal cell carcinoma and Subependymal Giant Cell Astrocytoma (SEGA), was found in 21% of patients. Most patients (75.8%) missed at least one recommended screening. Longer transition delays were significantly associated with more missed screenings (β = 0.11 missed screenings/year, p < 0.001). A composite SDoH risk score also predicted increased lapses in care, each additional risk factor associated with 0.45 more missed screenings (p = 0.002).

Conclusions:

Incomplete TSC surveillance is significantly associated with delayed transition to adult care and cumulative social risk burden. Adverse outcomes, such as missed malignancy or worsening of comorbid conditions such as seizures, were common. Our preliminary findings support the prominence of healthcare disparities in adult TSC patients undergoing transitional care and emphasize the need for integrated multidisciplinary and social support. Further longitudinal prospective studies are needed to address these barriers.