{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T22:35:36Z","timestamp":1789598136223,"version":"build-2803163510"},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,12,9]],"date-time":"2016-12-09T00:00:00Z","timestamp":1481241600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>The causes of death in patients with tuberous sclerosis complex (<jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>) have rarely been studied, with only one published account, which was reported from the Mayo Clinic in 1991. We aimed to investigate mortality in a large cohort of patients with TSC from one of two national referral clinics in the <jats:styled-content style=\"fixed-case\">UK<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We identified 284 patients who attended Bath <jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content> clinic between 1981 and 2015, and ascertained causes of death by reviewing medical records, death certificates, and postmortem reports.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Sixteen patients died from complications of <jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>: eight from <jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content> kidney diseases; four from sudden unexpected death in epilepsy (<jats:styled-content style=\"fixed-case\">SUDEP<\/jats:styled-content>); two from lymphangioleiomyomatosis; one from a subependymal giant cell astrocytoma; and one from a pancreatic malignancy. The median age of death was 33 years (interquartile range [<jats:styled-content style=\"fixed-case\">IQR<\/jats:styled-content>] 26\u201346). Mortality was significantly more common in patients with learning disabilities than in those without (13\/135 [9%] vs 3\/131 [2%]; two\u2010tailed Fisher exact test <jats:italic>p<\/jats:italic>=0.020).<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Renal disease is a major cause of mortality in <jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>. Lifelong surveillance and early intervention is warranted. <jats:styled-content style=\"fixed-case\">SUDEP<\/jats:styled-content> is also an important cause of mortality. Patients with learning disabilities are at significantly greater risk of early mortality and this implies the need for greater vigilance for TSC\u2010related complications in this group. Female patients are vulnerable to pulmonary and renal disease. Pancreatic lesions are a rare but potentially treatable cause of mortality.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.13352","type":"journal-article","created":{"date-parts":[[2016,12,9]],"date-time":"2016-12-09T12:40:17Z","timestamp":1481287217000},"page":"612-617","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":114,"title":["Causes of mortality in individuals with tuberous sclerosis complex"],"prefix":"10.1111","volume":"59","author":[{"given":"Sam","family":"Amin","sequence":"first","affiliation":[{"name":"Paediatric Neurology University Hospitals Bristol Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Lux","sequence":"additional","affiliation":[{"name":"Paediatric Neurology University Hospitals Bristol Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nuala","family":"Calder","sequence":"additional","affiliation":[{"name":"Paediatric Department Royal United Hospital Bath UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Laugharne","sequence":"additional","affiliation":[{"name":"Radiology Department Royal United Hospital Bath UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Osborne","sequence":"additional","affiliation":[{"name":"Paediatric Department Royal United Hospital Bath UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Finbar","family":"O'callaghan","sequence":"additional","affiliation":[{"name":"Clinical Neurosciences Section UCL Great Ormond Street Institute of Child Health London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,12,9]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.277.5327.805"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90618-Z"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1991.tb37754.x"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.202476899"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-1809.2003.00012.x"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0025-6196(12)61196-3"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2003.026815"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2012.10.005"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-410X.2004.05046.x"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1053\/rmed.2001.1206"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2013.08.001"},{"key":"e_1_2_7_13_1","unstructured":"Department of Health.Valuing people: a new strategy for learning disability for the 21st century. White Paper: Cm 5086.Department of Health:London 2001."},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1010481"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000000237"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.2337\/dc07-1327"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2261-14-66"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcp\/93.5.609"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.2147\/CLEP.S50780"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/thorax.57.12.1085"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.3109\/13625187.2013.859667"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(01)63072-6"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0033291702007092"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.2.156"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(12)61767-X"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.03262.x"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.sleep.2014.08.005"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1006\/jsre.2001.6145"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01805.x"}],"container-title":["Developmental Medicine &amp; Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fdmcn.13352","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fdmcn.13352","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/dmcn.13352","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T19:12:28Z","timestamp":1696360348000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/dmcn.13352"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,12,9]]},"references-count":28,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,6]]}},"alternative-id":["10.1111\/dmcn.13352"],"URL":"https:\/\/doi.org\/10.1111\/dmcn.13352","archive":["Portico"],"relation":{},"ISSN":["0012-1622","1469-8749"],"issn-type":[{"value":"0012-1622","type":"print"},{"value":"1469-8749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,12,9]]},"assertion":[{"value":"2016-10-26","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2016-12-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}