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Adults with tuberous sclerosis complex: A distinct patient population
Kenan Bachour1, Andrew A House2, Danielle M Andrade3
1Research Centre, University of Montreal Hospital Centre, Montreal, Quebec, Canada.
Epilepsia
|December 30, 2021
Summary
Adults with tuberous sclerosis complex (TSC) often experience drug-resistant epilepsy and neuropsychiatric issues. Improved multidisciplinary care is needed to address these challenges and enhance patient health.
Area of Science:
- Neurology
- Genetics
- Internal Medicine
Background:
- Limited research exists on adult tuberous sclerosis complex (TSC) populations, with a focus typically on pediatric cases.
- Understanding the clinical characteristics and care needs of adults with TSC is crucial for improving health outcomes.
Purpose of the Study:
- To investigate a large national cohort of adults diagnosed with tuberous sclerosis complex (TSC).
- To characterize the clinical features and assess the multidisciplinary care received by adults with TSC.
Main Methods:
- A collaborative study involving six Canadian medical centers.
- Data collection via standardized forms, analyzed using descriptive statistics.
Main Results:
- The study included 181 adults with TSC (mean age 33.6 years).
- High prevalence of intellectual disability (46%), epilepsy (76% with 43% drug-resistant), neuropsychiatric disease (70%), and renal angiomyolipomas (70%).
- Screening adherence varied, with gaps in pulmonary and renal function testing.
Conclusions:
- Adults with TSC may present with milder phenotypes and are more frequently familial than previously reported.
- Drug-resistant epilepsy, neuropsychiatric comorbidities, and renal angiomyolipomas pose significant challenges.
- Enhanced multidisciplinary TSC care centers are recommended to improve adult patient health and address care gaps.
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