Mortality in Tuberous Sclerosis Complex in the United Kingdom, 2016-2022.
People with TSC most often die from epilepsy, aspiration, or cancers that earlier action could prevent.
01Research in Context
What this study did
Kidson et al. (2025) looked at every TSC death in the United Kingdom between 2016 and 2022.
They wrote short stories about 19 people who died. The team listed what finally caused each death.
What they found
Epilepsy, aspiration pneumonia, and cancer were the three biggest killers.
Many of the deaths had warning signs that better care could have caught earlier.
How this fits with other research
Hwang et al. (2019) saw the same top killer in Australia: epilepsy also dominated deaths in autistic clients.
Amaral et al. (2017) counted deaths across all people with intellectual disability in England and found the same trio: epilepsy, breathing problems, and cancers.
Heald et al. (2020) add a gap: older cancer patients with ID saw specialists half as often and rarely died in hospital, hinting that TSC families may face similar under-care.
Bouck et al. (2016) show why early signs are missed: doctors often spot dying only in the final week, leaning on behavior cues we see every day.
Why it matters
If you serve someone with TSC, treat seizures, swallowing issues, and new lumps as red-alert medical events. Share your behavior data with physicians early; it may be the first clue that triggers life-saving care. Push for cancer screens, swallow studies, and epilepsy reviews at every care plan meeting.
Want CEUs on This Topic?
The ABA Clubhouse has 60+ free CEUs — live every Wednesday. Ethics, supervision & clinical topics.
Join Free →Add one page to the behavior plan: seizure log, swallow-risk signs, and a script to call the nurse for either symptom.
02At a glance
03Original abstract
BACKGROUND: Tuberous sclerosis complex (TSC) is a genetic condition caused by mutations in either TSC1 or TSC2 genes, affecting around two million people globally. This study aims to examine causes of death in TSC and explore factors contributing to mortality in people with TSC in the United Kingdom in recent years following updated management and surveillance guidelines for the condition. METHODS: Comprehensive analysis of the available medical records of the people seen at the largest lifespan TSC clinic in the United Kingdom who passed away between 2016 and 2022 was conducted. Disease-related factors were identified, and the cause of death was determined. Where mortality cause was unobtainable, information was sought from the person's general practitioner, or their death certificate was obtained from the General Registry Office. Subsequently, the cohort was divided into subgroups to investigate potential risk factors for premature mortality. Our results were compared to that of previous TSC mortality studies. RESULTS: The study consisted of 19 deaths. Nine deaths were unequivocally attributed to TSC. These fatalities were due to epilepsy (n = 3/19), aspiration pneumonia (n = 3/19), SEGA (n = 1/19), hepatic AML (n = 1/19) and pNET (n = 1/19). Other causes included malignant cancer (n = 6/19), sepsis (n = 2/19), COVID-19 (n = 1/19) and stroke (n = 1/19). Renal failure was a secondary cause in two deaths. DISCUSSION: Compared to limited previous mortality studies, this cohort appears to be less affected by SUDEP. This group is also more greatly affected by cancer and presents a potential link between early mortality and renal AML size. Moreover, a clearer role of intellectual disability in mortality of people with TSC may have been identified. Most causes of mortality in this TSC cohort are potentially prevented with suitable interventions earlier.
Journal of intellectual disability research : JIDR, 2025 · doi:10.1111/jir.13225