Tuberous sclerosis complex in adulthood: focus on epilepsy prognosis

Area of Science:

• Neurology
• Genetics
• Internal Medicine

Background:

• Tuberous Sclerosis Complex (TSC) is a genetic disorder causing tumors in various organs, often diagnosed in childhood, with complex lifelong management.
• Adult TSC cases present unique challenges in epilepsy management and surveillance due to age-dependent manifestations.
• Limited data exists on the clinical features, severity, and epilepsy prognosis in adult TSC populations.

Purpose of the Study:

• To analyze clinical and genetic features of adult TSC patients.
• To identify predictors of seizure remission in adults with TSC.
• To understand the long-term prognosis of epilepsy in TSC.

Main Methods:

• Retrospective analysis of 43 adult TSC patients with neurological involvement.
• Diagnosis confirmed using updated international criteria.
• Statistical comparison between seizure remission (R) and non-remission (NR) groups using chi-square, Fisher's exact, Mann Whitney U, and logistic regression analyses.

Main Results:

• Epilepsy affected 90.7% of adult TSC patients, with onset typically in early childhood.
• Only 35.9% of patients achieved seizure remission; 64.1% had drug-resistant epilepsy.
• Intellectual disability (ID) and lifelong multiple seizure types were independent predictors of poor seizure outcome.

Conclusions:

• Epilepsy remains a significant neurological challenge in adult TSC, with late-onset seizures being rare.
• Intellectual disability and diverse seizure types predict poor seizure control in adult TSC.
• Adult TSC patients require ongoing surveillance for manifestations like nephrological issues.