About this study
Relatively little is known about the evolution of epilepsy in TSC patients in adulthood. This was a study aimed at describing the characteristics of epilepsy in 257 adults with TSC in Milan, Italy. In this study, 183 of the 257 adults had epilepsy with 121 being described as being drug-resistant and 59 being seizure free.
Findings in this study
Most of the adults in the study (95.3%) had cortical tubers, and the median age of onset of seizures was 9 months but varied from the first day of life to 48 years. Most patients (97%) who were diagnosed with some form of intellectual disability (ID) had epilepsy. All of the patients who were as identified as having moderate or severe ID had epilepsy. Patients who were found to have a variant in their TSC2 gene were more likely to develop epilepsy.
Of interest, sporadic patients – that is patients where there was no family history of TSC – were more likely to be drug-resistant than patients where a family history of TSC was present. Autism spectrum disorder (ASD) was the most common diagnosis in drug-resistant patients affecting nearly 45% of the adults in the study. The authors stated that people with TSC and epilepsy are at greater risk of developing ASD when seizures remain drug-resistant.
In terms of treatment, more than one-third of the adults in this study had their seizures controlled by the age of 18. Surgery was uncommon with only 11 patients having undergone surgery as part of their treatment. Most of the adults in the study had received multiple anti-epileptic drugs.
It is important to remember that outcomes in this study reflect the attitudes and drugs available some 20-40 years ago. There have been significant changes since then and it is hoped that the current management of epilepsy in newborns and children will improve the outcomes of adults with TSC in future years.
Vignoli, A., La Briola, F., Turner, K., Peron, A., Vannicola, C., Chiesa, V., Zambrelli, E., Bruschi, F., Viganò, I., & Canevini, M. P. (2021). Epilepsy in adult patients with tuberous sclerosis complex. Acta neurologica Scandinavica, 10.1111/ane.13416. Advance online publication. https://doi.org/10.1111/ane.13416
Full paper available at: Epilepsy in adult patients with tuberous sclerosis complex – PubMed (nih.gov)
This information is intended to provide some insights into recent TSC-related research. It is not intended to, and it should not, constitute medical or other advice. Readers are warned not to take any action without first seeking medical advice.
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