{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T14:08:07Z","timestamp":1782569287345,"version":"3.54.5"},"reference-count":44,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,4,9]],"date-time":"2024-04-09T00:00:00Z","timestamp":1712620800000},"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":[[2024,10]]},"abstract":"<jats:title>R\u00e9sum\u00e9<\/jats:title><jats:sec><jats:title>Objectif<\/jats:title><jats:p>Afin de faciliter les \u00e9tudes multisites et la recherche clinique d'envergure internationale, cette \u00e9tude a pour but d'identifier des \u00e9l\u00e9ments de donn\u00e9es communs (EDCs) normalis\u00e9s et fond\u00e9s sur un consensus pour l'arthrogrypose multiple cong\u00e9nitale (AMC).<\/jats:p><\/jats:sec><jats:sec><jats:title>M\u00e9thode<\/jats:title><jats:p>Une \u00e9tude \u00e0 m\u00e9thodes mixtes comprenant plusieurs groupes de discussion et trois s\u00e9ries d'enqu\u00eates Delphi modifi\u00e9es pour parvenir \u00e0 un consensus ont \u00e9t\u00e9 men\u00e9es.<\/jats:p><\/jats:sec><jats:sec><jats:title>R\u00e9sultats<\/jats:title><jats:p>Dans l'ensemble, 45 experts cliniques ainsi qu'adultes ayant une exp\u00e9rience v\u00e9cue (dont 12 membres d'un consortium d'AMC) ont particip\u00e9 \u00e0 cette \u00e9tude\u2009\u00e0 travers 11 pays en Am\u00e9rique du Nord, Europe et Australie. Les EDCs comprennent 321 \u00e9l\u00e9ments de donn\u00e9es et 19 mesures standardis\u00e9es dans divers domaines, du d\u00e9veloppement du f\u0153tus \u00e0 l'\u00e2ge adulte. Les \u00e9l\u00e9ments de donn\u00e9es relatifs aux traits ph\u00e9notypiques de l'AMC ont \u00e9t\u00e9 cartographi\u00e9s conform\u00e9ment \u00e0 l'ontologie du ph\u00e9notype humain (HPO). Une structure de gouvernance universelle, des protocoles de fonctionnement et des plans de d\u00e9veloppement durable ont \u00e9t\u00e9 identifi\u00e9s comme les principaux facilitateurs consid\u00e9rant que la capacit\u00e9 limit\u00e9e de partage des donn\u00e9es et la n\u00e9cessit\u00e9 d'une infrastructure informatique f\u00e9d\u00e9r\u00e9e \u00e9taient les principaux obstacles.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpr\u00e9tation<\/jats:title><jats:p>Une collecte de donn\u00e9es syst\u00e9matiques sur l'AMC \u00e0 l'aide d'EDCs permettra d'\u00e9tudier sur les voies \u00e9tiologiques, d\u00e9crire le profil \u00e9pid\u00e9miologique, et \u00e9tablir des corr\u00e9lations g\u00e9notype\u2010ph\u00e9notype de mani\u00e8re standardis\u00e9e. Les EDCs propos\u00e9s faciliteront les collaborations internationales multidisciplinaires en am\u00e9liorant \u00e0 grande \u00e9chelle les \u00e9tudes multicentriques, les possibilit\u00e9s de partage des donn\u00e9es, ainsi que le transfert et la diffusion des connaissances.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.15915","type":"journal-article","created":{"date-parts":[[2024,4,9]],"date-time":"2024-04-09T07:37:22Z","timestamp":1712648242000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["\u00c9l\u00e9ments de donn\u00e9es communs pour l'arthrogrypose multiple cong\u00e9nitale: Un cadre international"],"prefix":"10.1111","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1248-7306","authenticated-orcid":false,"given":"Shahrzad","family":"Nematollahi","sequence":"first","affiliation":[{"name":"\u00c9cole de physioth\u00e9rapie et d'ergoth\u00e9rapie Universit\u00e9 de McGill  Montr\u00e9al QC Canada"},{"name":"D\u00e9partement de recherche clinique H\u00f4pitaux Shriners pour enfants du Canada  Montr\u00e9al Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4362-4062","authenticated-orcid":false,"given":"Klaus","family":"Dieterich","sequence":"additional","affiliation":[{"name":"Inserm U1209, Institut des Biosciences Avanc\u00e9es, CHU Grenoble Alpes, Centre de r\u00e9f\u00e9rence de l'arthrogrypose et des maladies neuromusculaires Universit\u00e9 Grenoble Alpes  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Filges","sequence":"additional","affiliation":[{"name":"G\u00e9n\u00e9tique m\u00e9dicale, Institut de g\u00e9n\u00e9tique m\u00e9dicale et de pathologie et D\u00e9partement de recherche clinique H\u00f4pital universitaire de B\u00e2le et Universit\u00e9 de B\u00e2le  B\u00e2le Suisse"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna I. 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