Tuberous Sclerosis Complex in Adulthood: A Descriptive Cohort Retrospective Review
Objective:
In this study, we aim to better characterize the natural history of Tuberous Sclerosis Complex (TSC) in adulthood, focusing on epilepsy, functional ability, and adult-specific issues, such as employment status and pregnancy.
Background:
Tuberous Sclerosis Complex is a neurocutaneous genetic disorder that often presents in childhood. However, for this rare disorder, further data is necessary to better understand the natural history of the various neurological manifestations of TSC in adulthood.
Design/Methods:
This was a single-center descriptive study involving chart review of adults diagnosed with definite or probable TSC.
Results:
This study included 72 adults with definite or probable TSC (mean age = 31.9 years, [standard deviation = 10.8]). Seventy-five percent (n=54) had at least one neurological manifestation of TSC, with epilepsy in 72.2% (n=52), intellectual disability in 48.6% (n=35), and autism spectrum disorder in 27.7% (n=20). Of those patients diagnosed with epilepsy, 53.8% (n=28) had refractory epilepsy, 36.5% (n=19) had been seizure free for >1 year, and 7.7% (n=4) had resolved epilepsy. Functionally, 65.3% (n=47) were able to independently complete their activities of daily living, 51.4% (n=37) were independent for their instrumental activities of daily living, and 26.4% (n=19) were conserved. Occupationally, 24.7% (n=25) were employed, 59.7% (n=43) were unemployed, and 5.6% (n=4) were students. Of the 35 women of childbearing age, 62.9% (n=22) had received TSC-related pregnancy counseling by their neurologist, 54.3% (n=19) were using contraception, 25.7% (n=9) were taking folate supplementation, and 22.6% (n=8) had been pregnant.
Conclusions:
Evaluation of this cohort highlights the heterogeneity of disease in adults with TSC, particularly with respect to neurological manifestations and functional abilities. By characterizing the epilepsy, functional status, occupational status, and reproductive status of adults with TSC, we add to the body of literature regarding the natural history of this disease in adults.