{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T23:56:46Z","timestamp":1792108606357,"version":"4.4.0"},"reference-count":44,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,3,16]],"date-time":"2024-03-16T00:00:00Z","timestamp":1710547200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100011781","name":"Shriners Hospitals for Children","doi-asserted-by":"publisher","award":["72032"],"award-info":[{"award-number":["72032"]}],"id":[{"id":"10.13039\/100011781","id-type":"DOI","asserted-by":"publisher"}]}],"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>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>To facilitate multisite studies and international clinical research, this study aimed to identify consensus\u2010based, standardized common data elements (CDEs) for arthrogryposis multiplex congenita (AMC).<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>A mixed\u2010methods study comprising of several focus group discussions and three rounds of modified Delphi surveys to achieve consensus using two tiered\u2010rating scales were conducted.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Overall, 45 clinical experts and adults with lived experience (including 12 members of an AMC consortium) participated in this study from 11 countries in North America, Europe, and Australia. The CDEs include 321 data elements and 19 standardized measures across various domains from fetal development to adulthood. Data elements pertaining to AMC phenotypic traits were mapped according to the Human Phenotype Ontology. A universal governance structure, local operating protocols, and sustainability plans were identified as the main facilitators, whereas limited capacity for data sharing and the need for a federated informatics infrastructure were the main barriers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Collection of systematic data on AMC using CDEs will allow investigations on etiological pathways, describe epidemiological profile, and establish genotype\u2013phenotype correlations in a standardized manner. The proposed CDEs will facilitate international multidisciplinary collaborations by improving large\u2010scale studies and opportunities for data sharing, knowledge translation, and dissemination.<\/jats:p><\/jats:sec><jats:sec><jats:title>What this paper adds<\/jats:title><jats:p>\n<jats:list list-type=\"bullet\">\n<jats:list-item><jats:p>The common data elements (CDEs) for arthrogryposis multiplex congenita include 321 data elements from perinatal period to adulthood.<\/jats:p><\/jats:list-item>\n<jats:list-item><jats:p>A universal governance structure, partner\u2010specific operating protocols, and sustainability plans will facilitate multi\u2010institutional implementation of CDEs.<\/jats:p><\/jats:list-item>\n<jats:list-item><jats:p>Inconsistent electronic infrastructure, different terminologies for databases, and feasibility issues are the main barriers for international implementation of CDEs.<\/jats:p><\/jats:list-item>\n<\/jats:list><\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.15898","type":"journal-article","created":{"date-parts":[[2024,3,16]],"date-time":"2024-03-16T08:24:55Z","timestamp":1710577495000},"page":"1340-1347","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Common data elements for arthrogryposis multiplex congenita: An international framework"],"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":"School of Physical and Occupational Therapy McGill University  Montreal Canada"},{"name":"Department of Clinical Research Shriners Hospitals for Children  Montreal 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":"Universit\u00e9 Grenoble Alpes, Inserm U1209, Institute of Advanced Biosciences, CHU Grenoble Alpes, Arthrogryposis and Neuromuscular Reference Center  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Filges","sequence":"additional","affiliation":[{"name":"Medical Genetics, Institute of Medical Genetics and Pathology and Department of Clinical Research University Hospital Basel and University of Basel  Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna I. 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