{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T17:54:02Z","timestamp":1781632442430,"version":"3.54.5"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T00:00:00Z","timestamp":1769385600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T00:00:00Z","timestamp":1769385600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100000090","name":"Congressionally Directed Medical Research Programs","doi-asserted-by":"publisher","award":["W81XWH-19-1-0177, NF180027"],"award-info":[{"award-number":["W81XWH-19-1-0177, NF180027"]}],"id":[{"id":"10.13039\/100000090","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and objectives<\/jats:title>\n                    <jats:p>Neurofibromatosis type 1 (NF1) is a multisystemic disease, characterized by cutaneous manifestations and peripheral nerve sheath tumors. Patients also have a high prevalence of learning disability, gliomas, as well as other malignancies, and require specialized follow up and surveillance. However, there are limited data regarding how people with NF1 use the healthcare system. We aimed to assess the use of different health services in individuals with NF1 compared to the general population.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This population-based, matched cohort study in Ontario, Canada, used a registry of individuals with confirmed NF1 from pediatric and adult clinics between 1990 and December 31, 2020, linked to administrative health databases. Each patient was matched 1:5 to population controls, by date of birth, sex, income quintile and geographic area of residence. We compared outpatient primary and specialty claims, hospitalizations, emergency department (ED) visits, same-day surgeries, overall healthcare costs and use of disability benefits.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      1,210 individuals with NF1 were matched to 6,050 controls, mean follow up was 19.6\u2009\u00b1\u20098.7 and 18.8\u2009\u00b1\u20098.5 years, respectively; at the end of the study window, mean age was 26.2\u2009\u00b1\u200916.9 years. More adults with NF1 received disability benefits than controls (17.6% vs. 6.6%,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001). NF1 individuals had more ED visits (RR:1.11, 95% CI: 1.04\u20131.19), hospitalizations (RR: 2.66, 95% CI: 2.43\u20132.91), primary care visits (RR: 1.15, 95% CI: 1.10\u20131.21), specialist visits (RR:2.34, 95% CI: 2.18\u20132.51) and same-day surgeries (RR: 1.62, 95% CI: 1.47\u20131.69). Healthcare costs were higher in NF1 than controls (CAD$53,858 vs. CAD$18,133,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.0001). Individuals with NF1 in rural areas had more ED visits and fewer primary and specialty visits than urban dwellers; those in the highest income quintile had fewer ED visits and hospitalizations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>Individuals with NF1 in Ontario, Canada, have high use of outpatient and inpatient services, disability benefits and higher healthcare costs, highlighting the need for multidisciplinary care. Rurality and income quintile were associated with the use of healthcare resources; future work is needed to assess social determinants of health in NF1.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-025-04166-5","type":"journal-article","created":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T15:00:27Z","timestamp":1769439627000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Healthcare utilization patterns and costs related to neurofibromatosis 1 in Ontario, Canada"],"prefix":"10.1186","volume":"21","author":[{"given":"Ajith","family":"Sivadasan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Hernandez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Candido","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia C.","family":"Parkin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Tu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meg","family":"Mendoza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5546-0221","authenticated-orcid":false,"given":"Carolina","family":"Barnett-Tapia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,1,26]]},"reference":[{"issue":"1","key":"4166_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13023-023-02911-2","volume":"18","author":"TSJ Lee","year":"2023","unstructured":"Lee TSJ, Chopra M, Kim RH, Parkin PC, Barnett-Tapia C. Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis. Orphanet J Rare Dis. 2023;18(1):1\u20138.","journal-title":"Orphanet J Rare Dis"},{"key":"4166_CR2","unstructured":"Diehl SR, Boehnkej M, Erickson RP, Ploughman LM, Seiler KA, Lieberman JL, et al. A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NFI) gene. Am J Hum Genet. 1989;44."},{"key":"4166_CR3","doi-asserted-by":"crossref","unstructured":"Statement C, Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol. 1988;45(5):575\u20138. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/3128965","DOI":"10.1001\/archneur.1988.00520290115023"},{"key":"4166_CR4","unstructured":"Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. 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Awareness and agreement with neurofibromatosis care guidelines among U.S. neurofibromatosis specialists. Orphanet J Rare Dis. 2022;17(1):1\u201311. https:\/\/doi.org\/10.1186\/s13023-022-02196-x","DOI":"10.1186\/s13023-022-02196-x"},{"issue":"9","key":"4166_CR24","doi-asserted-by":"publisher","first-page":"1555","DOI":"10.1080\/03007995.2021.1940907","volume":"37","author":"X Yang","year":"2021","unstructured":"Yang X, Desai K, Agrawal N, Mirchandani K, Chatterjee S, Sarpong E, et al. Characteristics, treatment patterns, healthcare resource use, and costs among pediatric patients diagnosed with neurofibromatosis type 1 and plexiform neurofibromas: a retrospective database analysis of a medicaid population. Curr Med Res Opin. 2021;37(9):1555\u201361.","journal-title":"Curr Med Res Opin"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-025-04166-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-025-04166-5","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-025-04166-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T17:09:44Z","timestamp":1781629784000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s13023-025-04166-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,26]]},"references-count":24,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["4166"],"URL":"https:\/\/doi.org\/10.1186\/s13023-025-04166-5","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,26]]},"assertion":[{"value":"8 July 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 December 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 January 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The Research Ethics Boards of the Hospital for Sick Children and the University Health Network approved the retrospective registries and linkage to administrative data, consent was waived due to retrospective registry. The use of the administrative data in this project is authorized under Sect.\u00a045 of Ontario\u2019s Personal Health Information Protection Act (PHIPA) and does not require review by a Research Ethics Board.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"AS reports no disclosures. AH reports no disclosures. EC reports no disclosures. PCP reports receiving funds from the Hospital for Sick Children Foundation from donations for Neurofibromatosis Research. KT reports no disclosures. MM reports no disclosures. CBT has served as member of the advisory board for argenx, Alexion, UCB, Janssen and NMD Pharma. She has been a consultant for argenx, Janssen, Novartis and UCB. She has received research support from US Department of Defense, Muscular Dystrophy Canada and MGNet. She is the primary developer of the MGII and may receive royalties.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"25"}}