{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T20:42:02Z","timestamp":1788381722650,"version":"build-2803163510"},"reference-count":31,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2018,7,13]],"date-time":"2018-07-13T00:00:00Z","timestamp":1531440000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100013995","name":"Sanofi Genzyme","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100013995","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Paediatrica"],"published-print":{"date-parts":[[2018,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>The aim of this study was to develop an algorithm to prompt early clinical suspicion of mucopolysaccharidosis type I (MPS I).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>An international working group was established in 2016 that comprised 11 experts in paediatrics, rare diseases and inherited metabolic diseases. They reviewed real\u2010world clinical cases, selected key signs or symptoms based on their prevalence and specificity and reached consensus about the algorithm. The algorithm was retrospectively tested.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>An algorithm was developed. In patients under two years of age, kyphosis or gibbus deformity were the key symptoms that raised clinical suspicion of <jats:styled-content style=\"fixed-case\">MPS<\/jats:styled-content> I and in those over two years they were kyphosis or gibbus deformity, or joint stiffness or contractures without inflammation. The algorithm was tested on 35 cases, comprising 16 Hurler, 10 Hurler\u2013Scheie, and nine Scheie patients. Of these 35 cases, 32 (91%) \u2013 16 Hurler, nine Hurler\u2013Scheie and seven Scheie patients \u2013 would have been referred earlier if the algorithm had been used.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The expert panel developed and tested an algorithm that helps raise clinical suspicion of <jats:styled-content style=\"fixed-case\">MPS<\/jats:styled-content> I and would lead to a more prompt final diagnosis and allow earlier treatment.<\/jats:p><\/jats:sec>","DOI":"10.1111\/apa.14417","type":"journal-article","created":{"date-parts":[[2018,5,24]],"date-time":"2018-05-24T07:08:45Z","timestamp":1527145725000},"page":"1402-1408","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Easy\u2010to\u2010use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment"],"prefix":"10.1111","volume":"107","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7306-6877","authenticated-orcid":false,"given":"Anna","family":"Tylki\u2010Szyma\u0144ska","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Nutrition and Metabolic Diseases The Children's Memorial Health Institute Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"De Meirleir","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology and Metabolic Diseases Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Di Rocco","sequence":"additional","affiliation":[{"name":"Unit of Rare Diseases Department of Paediatrics IRCCS Giannina Gaslini Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Waseem M.","family":"Fathalla","sequence":"additional","affiliation":[{"name":"Division of Child Neurology Department of Pediatrics Mafraq Hospital 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