{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T22:14:09Z","timestamp":1776723249826,"version":"3.51.2"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,9,2]],"date-time":"2022-09-02T00:00:00Z","timestamp":1662076800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,9,2]],"date-time":"2022-09-02T00:00:00Z","timestamp":1662076800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"ERN CRANIO"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Against the backdrop of the European Directive on patients\u2019 rights in cross-border healthcare, 24 European Reference Networks (ERNs) were launched in 2017. ERNs are networks of specialised hospitals\u00a0working together to support patients with rare and\/or complex diseases. ERN CRANIO is the ERN for craniofacial anomalies and ear, nose and throat disorders. The aim of this study was to explore ERN CRANIO\u2019s patient coverage of craniosynostosis.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>ERN CRANIO members and applicants were asked to retrospectively report the number of \u2018new craniosynostosis patients\u2019 (isolated and syndromic) seen in 2017. The number of live births per country in 2017 was retrieved from EUROSTAT, the EU\u2019s statistical office. The number of new patients reported per country and the number of live births were used to generate country-specific prevalence figures per 10,000 live births. These figures were compared to expected prevalence ranges for craniosynostosis, and syndromic craniosynostosis specifically, defined by recent European studies. The percentage of syndromic craniosynostosis cases per country was also compared to the expected percentage range.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Based on previous studies, the expected prevalence ranges for craniosynostosis and syndromic craniosynostosis specifically were respectively defined as 4.4\u20137.2 and 0.9\u20131.6 patients\/10,000 live births. For craniosynostosis (\u2018total\u2019; isolated\u2009+\u2009syndromic), 'new patient' data from the UK and Finland generated prevalence figures within the expected range, and those in France, Spain, Italy, Portugal and Germany are lower than expected. However, when including applicant data, the prevalence figures for France, Spain and Italy become in range. Data from the Netherlands and Sweden generated higher prevalence figures than expected. For France, Finland, Italy and Sweden, there is inconsistency between patient coverage of \u2018total\u2019 and syndromic patients. For France, Germany, Finland and Italy, the percentage of syndromic craniosynostosis was lower than the expected range.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>ERN CRANIO\u2019s coverage of craniosynostosis varies across Europe. Results may be explained by data collection methods, genetic testing policies and\/or national healthcare systems. With centre caseload a driving force for quality, additional ERN membership calls may not necessarily ensure sufficient patient coverage for countries with decentralised healthcare systems. Liaison with national health ministries should be encouraged to optimise patient coverage.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-022-02475-7","type":"journal-article","created":{"date-parts":[[2022,9,2]],"date-time":"2022-09-02T05:02:55Z","timestamp":1662094975000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["ERN CRANIO patient coverage of craniosynostosis in Europe"],"prefix":"10.1186","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8627-1383","authenticated-orcid":false,"given":"O.","family":"Spivack","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Gaillard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"ERN CRANIO hospital representatives","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene M. J.","family":"Mathijssen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans","family":"Delye","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Arnaud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neil","family":"Bulstrode","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Evans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chris","family":"Parks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria A.","family":"Poca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Romance","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lars","family":"K\u00f6lby","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Nowinski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Faggin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlo","family":"Giussani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Valentini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianpiero","family":"Tamburrini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrich-Wilhelm","family":"Thomale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pia","family":"Vuola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cl\u00e1udia","family":"Faria","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federico","family":"Di Rocco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Hinojosa","family":"Mena-Bernal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorenzo","family":"Genitori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siegmar","family":"Reinert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,9,2]]},"reference":[{"key":"2475_CR1","unstructured":"The European Parliament and the Council of the European Union. Directive 2011\/24\/EU of the European Parliament and of the Council Of 9 March 2011. https:\/\/eur-lex.europa.eu\/legal-content\/EN\/TXT\/?uri=CELEX:32011L0024."},{"key":"2475_CR2","unstructured":"European Commission. European Reference Networks. https:\/\/ec.europa.eu\/health\/ern_en."},{"key":"2475_CR3","unstructured":"ERN-CRANIO. https:\/\/ern-cranio.eu\/."},{"key":"2475_CR4","unstructured":"European Commission. Commission Delegated Decision of 10 March 2014: setting out criteria and conditions that European Reference Networks and healthcare providers wishing to join a European Reference Network must fulfil. Official Journal of the European Union. 2014."},{"issue":"1\u20132","key":"2475_CR5","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1159\/000492266","volume":"10","author":"JAC Goos","year":"2019","unstructured":"Goos JAC, Mathijssen IMJ. Genetic causes of craniosynostosis: an update. Mol Syndromol. 2019;10(1\u20132):6\u201323.","journal-title":"Mol Syndromol"},{"issue":"2","key":"2475_CR6","doi-asserted-by":"publisher","first-page":"e391","DOI":"10.1542\/peds.2009-3491","volume":"126","author":"AO Wilkie","year":"2010","unstructured":"Wilkie AO, Byren JC, Hurst JA, Jayamohan J, Johnson D, Knight SJ, et al. Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. Pediatrics. 2010;126(2):e391-400.","journal-title":"Pediatrics"},{"issue":"6","key":"2475_CR7","doi-asserted-by":"publisher","first-page":"622","DOI":"10.1097\/MOP.0000000000000542","volume":"29","author":"AOM Wilkie","year":"2017","unstructured":"Wilkie AOM, Johnson D, Wall SA. Clinical genetics of craniosynostosis. Curr Opin Pediatr. 2017;29(6):622\u20138.","journal-title":"Curr Opin Pediatr"},{"key":"2475_CR8","unstructured":"Eurostat. https:\/\/ec.europa.eu\/eurostat\/databrowser\/view\/tps00204\/default\/table?lang=en"},{"issue":"9","key":"2475_CR9","doi-asserted-by":"publisher","first-page":"1273","DOI":"10.1016\/j.jcms.2016.07.007","volume":"44","author":"M Cornelissen","year":"2016","unstructured":"Cornelissen M, Ottelander B, Rizopoulos D, van der Hulst R, Mink van der Molen A, van der Horst C, et al. Increase of prevalence of craniosynostosis. J Cranio-Maxillo-Fac Surg Off Publ Eur Assoc Cranio-Maxillo-Fac Surg. 2016;44(9):1273\u20139.","journal-title":"J Cranio-Maxillo-Fac Surg Off Publ Eur Assoc Cranio-Maxillo-Fac Surg"},{"key":"2475_CR10","doi-asserted-by":"publisher","first-page":"68","DOI":"10.3171\/2020.1.PEDS2051","volume":"26","author":"E Tonne","year":"2020","unstructured":"Tonne E, Due-Tonnessen BJ, Wiig U, Stadheim BF, Meling TR, Helseth E, et al. Epidemiology of craniosynostosis in Norway. J Neurosurg Pediatr. 2020;26:68\u201375.","journal-title":"J Neurosurg Pediatr."},{"issue":"1","key":"2475_CR11","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1097\/SCS.0000000000007035","volume":"32","author":"IMJ Mathijssen","year":"2021","unstructured":"Mathijssen IMJ, Working Group Guideline C. Updated guideline on treatment and management of craniosynostosis. J Craniofac Surg. 2021;32(1):371\u2013450.","journal-title":"J Craniofac Surg"},{"key":"2475_CR12","doi-asserted-by":"publisher","DOI":"10.1016\/j.eururo.2021.02.043","author":"L Oomen","year":"2021","unstructured":"Oomen L, Leijte E, Shilhan DE, Battye M, Members Of Ern e U, Feitz WFJ. Rare and complex urology: clinical overview of ERN eUROGEN. Eur Urol. 2021. https:\/\/doi.org\/10.1016\/j.eururo.2021.02.043.","journal-title":"Eur Urol"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-022-02475-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-022-02475-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-022-02475-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,2]],"date-time":"2022-09-02T05:10:43Z","timestamp":1662095443000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-022-02475-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,2]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["2475"],"URL":"https:\/\/doi.org\/10.1186\/s13023-022-02475-7","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,2]]},"assertion":[{"value":"5 January 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 August 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 September 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was exempt from ethical approval and patient consent as aggregated anonymous patient data was used. All hospital representatives provided consent to use the data for the purpose of the article.","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":"The authors declare that they have no competing interests. The content of this paper represents the views of the authors\u00a0only and it is\u00a0their\u00a0sole responsibility; it cannot be considered to reflect the views of the European Commission and\/or the European Health and Digital Executive Agency (HaDEA) or any other body of the European Union. The European Commission and the Agency do not accept any responsibility for use that may be made of the information it contains.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"333"}}