{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T19:14:37Z","timestamp":1773342877319,"version":"3.50.1"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,3,10]],"date-time":"2025-03-10T00:00:00Z","timestamp":1741564800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J intellect Disabil Res"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Tuberous sclerosis complex (TSC) is a genetic condition caused by mutations in either <jats:italic>TSC1<\/jats:italic> or <jats:italic>TSC2<\/jats:italic> 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>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\u2010related 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The study consisted of 19 deaths. Nine deaths were unequivocally attributed to TSC. These fatalities were due to epilepsy (<jats:italic>n<\/jats:italic>\u2009=\u20093\/19), aspiration pneumonia (<jats:italic>n<\/jats:italic>\u2009=\u20093\/19), SEGA (<jats:italic>n<\/jats:italic>\u2009=\u20091\/19), hepatic AML (<jats:italic>n<\/jats:italic>\u2009=\u20091\/19) and pNET (<jats:italic>n<\/jats:italic>\u2009=\u20091\/19). Other causes included malignant cancer (<jats:italic>n<\/jats:italic>\u2009=\u20096\/19), sepsis (<jats:italic>n<\/jats:italic>\u2009=\u20092\/19), COVID\u201019 (<jats:italic>n<\/jats:italic>\u2009=\u20091\/19) and stroke (<jats:italic>n<\/jats:italic>\u2009=\u20091\/19). Renal failure was a secondary cause in two deaths.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jir.13225","type":"journal-article","created":{"date-parts":[[2025,3,11]],"date-time":"2025-03-11T08:40:15Z","timestamp":1741682415000},"page":"457-464","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Mortality in Tuberous Sclerosis Complex in the United Kingdom, 2016\u20132022"],"prefix":"10.1111","volume":"69","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-6948-9576","authenticated-orcid":false,"given":"Callum\u00a0Richard\u00a0Thomas","family":"Kidson","sequence":"first","affiliation":[{"name":"University of Bristol Medical School  Bristol UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ne\u2010Ron","family":"Loh","sequence":"additional","affiliation":[{"name":"Royal United Hospitals  Bath UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasir\u00a0Ahmed","family":"Syed","sequence":"additional","affiliation":[{"name":"Neuroscience and Mental Health Innovation Institute  Cardiff UK"},{"name":"School of Bioscience Cardiff University  Cardiff UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,3,10]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2012.10.005"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.13352"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa063564"},{"key":"e_1_2_10_5_1","unstructured":"Department of Health and Social Care.2001. \u201cValuing People: A New Strategy for Learning Disability for the 21st Century.\u201d Department of Health London."},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0596-2"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.5527\/wjn.v10.i4.59"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2016.35"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2013.08.002"},{"key":"e_1_2_10_10_1","doi-asserted-by":"crossref","unstructured":"Maguire M. 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J.Nolan.2015. \u201cTreatments for the Prevention of Sudden Unexpected Death in Epilepsy (SUDEP).\u201d Cochrane Databse of Systematic Reviews.","DOI":"10.1002\/14651858.CD011792"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2468-1253(21)00005-4"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.03358.x"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2021.07.011"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2003.026815"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2021.108032"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01974-3"},{"key":"e_1_2_10_17_1","first-page":"355","article-title":"Healthcare Transition From Childhood to Adulthood in Tuberous Sclerosis Complex","volume":"178","author":"Peron A.","year":"2018","journal-title":"American Journal of Medical Genetics"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01917-y"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2261-14-66"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2017.0891"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0025-6196(12)61196-3"},{"key":"e_1_2_10_22_1","unstructured":"Specialised Commissioning Team.2016a. \u201cClinical Commissioning Policy Statement: Everolimus (Votubia\u00ae) for Treatment of Angiomyolipomas Associated With Tuberous Sclerosis.\u201d NHS England."},{"key":"e_1_2_10_23_1","unstructured":"Specialised Commissioning Team.2016b. \u201cEverolimus for Subependymal Giant Cell Astrocytoma (SEGA) Associated With Tuberous Sclerosis Complex\u201d."},{"key":"e_1_2_10_24_1","unstructured":"Specialised Commissioning Team.2018\u201cClinical Commissioning Policy: Everolimus for Refractory Focal Onset Seizures Associated With Tuberous Sclerosis Complex (Aged 2 Years and Above).\u201d NHS England."},{"key":"e_1_2_10_25_1","unstructured":"University of Bristol.2021. \u201cThe Learning Disabilities Mortality Review (LeDeR) Programme Annual Report.\u201d Annual Report. 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