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Bachour K, House AA, Andrade DM, et al. Adults with tuberous sclerosis complex: A distinct patient population. Epilepsia. 2021;doi: 10.1111/epi.17159.
Bachour, K., House, A. A., Andrade, D. M., Connolly, M., Debicki, D. B., Desbiens, R., Fantaneanu, T. A., Kyriakopoulos, P., Lattouf, J. B., Suller-Marti, A., Marques, P. T., & Keezer, M. R. (2021). Adults with tuberous sclerosis complex: A distinct patient population. Epilepsia, . https://doi.org/10.1111/epi.17159
Bachour, Kenan, et al. "Adults with tuberous sclerosis complex: A distinct patient population." Epilepsia vol. (2021). doi: https://doi.org/10.1111/epi.17159
Bachour K, House AA, Andrade DM, Connolly M, Debicki DB, Desbiens R, Fantaneanu TA, Kyriakopoulos P, Lattouf JB, Suller-Marti A, Marques PT, Keezer MR. Adults with tuberous sclerosis complex: A distinct patient population. Epilepsia. 2021 Dec 29; doi: 10.1111/epi.17159. Epub 2021 Dec 29. PMID: 34967000.
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Epilepsia. 2021 Dec 29; doi: 10.1111/epi.17159. Epub 2021 Dec 29.

Adults with tuberous sclerosis complex: A distinct patient population.

Epilepsia

Kenan Bachour, Andrew A House, Danielle M Andrade, Mary Connolly, Dereck B Debicki, Richard Desbiens, Tadeu A Fantaneanu, Paulina Kyriakopoulos, Jean-Baptiste Lattouf, Ana Suller-Marti, Paula T Marques, Mark R Keezer

Affiliations

  1. Research Centre, University of Montreal Hospital Centre, Montreal, Quebec, Canada.
  2. Department of Nephrology, London Health Science Centre, London, Ontario, Canada.
  3. Department of Neurology, Toronto Western Hospital, Toronto, Ontario, Canada.
  4. Department of Pediatrics, British Columbia's Children Hospital, Vancouver, British Columbia, Canada.
  5. Department of Clinical Neurological Sciences, London Health Science Centre, Western University, London, Ontario, Canada.
  6. Department of Neurology, Laval University Hospital Centre, Quebec City, Quebec, Canada.
  7. Department of Neurology, Ottawa Hospital, Ottawa, Ontario, Canada.
  8. Department of Urology, University of Montreal Hospital Centre, Montreal, Quebec, Canada.
  9. Department of Neurosciences, University of Montreal, Montreal, Quebec, Canada.
  10. School of Public Health, University of Montreal, Montreal, Quebec, Canada.

PMID: 34967000 DOI: 10.1111/epi.17159

Abstract

OBJECTIVES: There are few data on adults living with tuberous sclerosis complex (TSC), with most studies focusing on pediatric populations. The objective of our study was to examine a large national cohort of adults with TSC, and to describe the clinical characteristics of these adults and the nature of the multidisciplinary care that they receive.

METHODS: Six Canadian medical centers collaborated in this study. Data were collected using a standardized form, and descriptive statistics were used for the analyses.

RESULTS: Our study included 181 adults with definite TSC (mean age = 33.6 years [SD = 13.7]). More than 40% (n = 75) had family members affected by TSC. Forty-six percent (n = 83) of individuals had intellectual disability. Nearly 30% (n = 52) of individuals reported living alone or with a partner/spouse. Seventy-six percent (n = 138) of people had epilepsy, 43% (n = 59) of whom had drug-resistant epilepsy, and 21% (n = 29) had undergone epilepsy surgery. Neuropsychiatric disease (n = 128) and renal angiomyolipomas (n = 130) were both present in approximately 70% of people. Renal imaging was performed in 75.7% (n = 137) of participants within the past 3 years. Renal and pulmonary function tests, as well as electrocardiograms, were recently performed in a minority of individuals.

SIGNIFICANCE: Our cohort of adults with TSC showed that an important proportion have a milder phenotype, and are more frequently familial, as compared to children with TSC (and differing from prior reports in adult cohorts). Drug-resistant epilepsy, neuropsychiatric comorbidities, and renal angiomyolipoma are challenging factors in adults with TSC. Our participating medical centers generally followed recommended screening strategies, but there remain important gaps in care. Multidisciplinary and structured TSC care centers offering service to adults may help to improve the health of this important patient population.

© 2021 International League Against Epilepsy.

Keywords: epilepsy; health services research; neurocutaneous syndrome; seizures

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