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Study of a cohort of adult patients with TSC

About this study

This study describes the clinical and genetic characteristics, management and quality of life of adults with Tuberous Sclerosis Complex (TSC), who had been diagnosed in adulthood compared to those diagnosed in childhood.  This Spanish study of 57 people with TSC included more than 50% of people who were diagnosed as adults (ie 16 years of age or older).

Outcomes of the study

The study found that people whose symptoms developed in adulthood had a mild form of TSC, with less intellectual disability and less frequency of epileptic seizures.  In comparison, those diagnosed in childhood had greater neurological involvement at all levels; in the form of seizures and the presence of subependymal nodules (SENs) and astrocytomas (SEGAs).

Among those who were diagnosed in adulthood, 50% were diagnosed due to kidney or skin symptoms and 50% were diagnosed following screening for TSC due to having an affected family member. In comparison, epilepsy was most frequently seen in those diagnosed during childhood.

When looking at genetic involvement, it was found that TSC2 mutations were more common among those diagnosed in childhood. Quality of life overall was lower than that of the general Spanish population, with worse quality of life in those people more affected.  The presence of seizures and astrocytoma’s were the symptoms found to impair quality of life the most. A statistically significant difference was seen in the mental health-related quality of life between people diagnosed in childhood and those diagnosed in adulthoods

Why is this study important?

Currently there is limited data available on TSC in adulthood. This study adds more to our understanding of how TSC presents between childhood and adulthood.

De Sautu De Borbón, E. C., Guerra Vales, J. M., Lumbreras Bermejo, C., Guerrero Ramos, F., Buj Padilla, M. J., González de la Aleja, J., & Morales Conejo, M. (2021). Clinical, genetic and quality-of-life study of a cohort of adult patients with tuberous sclerosis. Orphanet journal of rare diseases, 16(1), 243.

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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.