Exploring sleep quality in adults living with TSC
About this study
This study investigated how common sleep issues are in adults living with TSC (Tuberous Sclerosis Complex) and explored how specific clinical features (such as mental health and epilepsy) and routine medications (including mTOR inhibitors and antiseizure medications) contribute to sleep disruption.
How the study was conducted
The researchers conducted a web-based survey targeting adults diagnosed with TSC. A total of 84 adults living with TSC (or their legal guardians completing the questionnaire on their behalf) were included in the final analysis.
Sleep quality was formally measured using the Pittsburgh Sleep Quality Index (PSQI), a validated tool that scores 7 components of sleep including duration, daytime dysfunction, and latency. The survey also gathered self-reported information regarding daily lifestyle habits, 17 distinct TAND manifestations, and specific prescription medication regimens.
Outcomes of the study
The survey revealed that 64% of participants met the established criteria for poor sleep based on their overall PSQI scores, a rate significantly higher than that observed in the general adult population.
The specific areas where participants experienced the most difficulty were falling asleep (sleep latency) and dealing with nighttime disruptions.
Mental health conditions played a notable role, as individuals reporting anxiety, depressive thoughts, or mental illness were significantly more likely to suffer from disrupted sleep.
Medication use also showed clear associations with sleep outcomes: participants taking mTOR inhibitors, antiseizure medications, or antidepressants reported poorer sleep quality, and those taking a combination of mTOR inhibitors and antiseizure medications experienced worse sleep than those taking only one or neither.
Additionally, external lifestyle factors such as higher stress, drinking more than one cup of coffee daily, or consuming caffeine within 6 hours of bedtime were linked to worse sleep scores.
Despite the high prevalence of sleep issues in this group, only 22% of respondents recalled ever having a health care professional discuss sleep abnormalities with them.
Conclusions of the study
Sleep disturbances are a highly prevalent and clinically significant aspect of living with TSC as an adult, regardless of whether the overall neuropsychiatric burden is mild or severe.
Poor sleep in adults with TSC is complex with a number of factors at play, including issues such as altered mTOR signalling affecting circadian rhythms, mental health symptoms, lifestyle choices, and the side effects of essential medications.
The study also demonstrates a distinct clinical care gap, indicating that sleep difficulties often remain unrecognised and unaddressed during standard clinical consultations.
Implications of the study
These findings demonstrate the need for health care providers to incorporate routine sleep evaluations into standard TSC clinical care, particularly prior to making adjustments to a patient’s medications. Medical teams should carefully evaluate the potential impact on sleep quality when prescribing or combining medications such as mTOR inhibitors, antiseizure drugs, and antidepressants.
Addressing associated mental health conditions like anxiety and depression is a pathway toward improving both nighttime sleep and daytime functioning.
Finally, raising awareness that sleep disruption is a common, recognised, and manageable feature of TSC (in both children and adults) empowers individuals and their families to bring sleep concerns to the attention of their care providers.
DISCLAIMER
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.
Risgaard KA, Farach L, Northrup H, Wilson SL, Pearson D, Hashmi S, Richardson K. Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features. Am J Med Genet A. 2026 Jun 1. doi: 10.1002/ajmg.a.70217. Epub ahead of print. PMID: 42223173.
https://doi.org/10.1002/ajmg.a.70217