{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T21:15:42Z","timestamp":1790111742672,"version":"4.0.1"},"reference-count":49,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,8,9]],"date-time":"2022-08-09T00:00:00Z","timestamp":1660003200000},"content-version":"vor","delay-in-days":69,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100005693","name":"Parent Project Muscular Dystrophy","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005693","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Duchenne muscular dystrophy is the most common form of muscular dystrophy diagnosed in childhood but is not routinely screened for prenatally or at birth in the United States. We sought to characterize the diagnostic experiences of families and describe their preferences for newborn screening (NBS). We conducted a registry\u2010based survey of families with Duchenne and Becker muscular dystrophy that included open\u2010 and closed\u2010ended questions regarding the journey to a diagnosis, preferences for when to learn of a diagnosis, and how knowledge of a diagnosis would impact life decisions. Open\u2010ended responses were analyzed thematically, and closed\u2010ended responses were analyzed descriptively. Sixty\u2010five families completed the survey. The average ages of first concern and diagnosis were 2 and 4\u2009years, respectively. One\u2010third of families (30%) indicated that they would prefer to receive a diagnosis in the newborn period irrespective of treatment options available, and nearly all of the remaining families (93%) indicated that they would want to learn about a diagnosis if there were treatments that worked well during the newborn period. All families (100%) indicated that a diagnosis in the newborn period would impact life decisions. We identified three overarching themes, which described the stages of the diagnostic journey, including having concerns about the child, seeking answers, and receiving the diagnosis. NBS can facilitate improved health outcomes through early access to care, and inform families on major health and nonhealth decisions. The preferences and experiences of families and other stakeholders should be considered when determining the potential value and benefit of expanding NBS programs.<\/jats:p>","DOI":"10.1002\/ajmg.c.31992","type":"journal-article","created":{"date-parts":[[2022,8,9]],"date-time":"2022-08-09T10:24:26Z","timestamp":1660040666000},"page":"169-177","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed\u2010methods study"],"prefix":"10.1002","volume":"190","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2811-1330","authenticated-orcid":false,"given":"Norah L.","family":"Crossnohere","sequence":"first","affiliation":[{"name":"Department of Biomedical Informatics The Ohio State University College of Medicine  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9247-0581","authenticated-orcid":false,"given":"Niki","family":"Armstrong","sequence":"additional","affiliation":[{"name":"Parent Project Muscular Dystrophy  Washington District of Columbia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryan","family":"Fischer","sequence":"additional","affiliation":[{"name":"Parent Project Muscular Dystrophy  Washington District of Columbia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John F. P.","family":"Bridges","sequence":"additional","affiliation":[{"name":"Department of Biomedical Informatics The Ohio State University College of Medicine  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,8,9]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-021-03035-x"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.867371"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamanetworkopen.2021.40998"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-021-82725-z"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedhc.2016.09.002"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinthera.2016.04.001"},{"key":"e_1_2_8_8_1","first-page":"1","article-title":"How do members of the Duchenne and Becker muscular dystrophy community perceive a discrete\u2010choice experiment incorporating uncertain treatment benefit? An application of research as an event","volume":"12","author":"Bridges J. F.","year":"2018","journal-title":"The Patient\u2010Patient\u2010Centered Outcomes Research"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40271-018-0330-8"},{"key":"e_1_2_8_10_1","article-title":"Patient preference information\u2013voluntary submission, review in premarket approval applications, humanitarian device exemption applications, and de novo requests, and inclusion in decision summaries and device labeling","author":"CDRH F","year":"2016","journal-title":"Food and Drug Administration Staff, and Other Stakeholders"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.02.007"},{"key":"e_1_2_8_12_1","unstructured":"Committee Approach to Evaluating the Condition Review Report (Decision Matrix). (2022).US Health Resources & Services Administration.https:\/\/www.hrsa.gov\/advisory-committees\/heritable-disorders\/decision-matrix."},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-022-03160-1"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26720"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1080\/14737167.2020.1734454"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1177\/0272989X20978390"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40271-022-00574-y"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.02.006"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.286.6382.1933"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(87)90579-4"},{"issue":"9","key":"e_1_2_8_21_1","doi-asserted-by":"crossref","first-page":"2261","DOI":"10.1007\/s11136-018-1891-7","article-title":"Engaging patients and caregivers in prioritizing symptoms impacting quality of life for Duchenne and Becker muscular dystrophy","volume":"27","author":"Hollin I. L.","year":"2018","journal-title":"Quality of Life Research"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25411"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31822623f1"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40265-019-01162-5"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.98"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1155\/2014\/965631"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2013.119"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2010-0217"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2014.03.008"},{"key":"e_1_2_8_30_1","unstructured":"Medical Device Innovation Consortium (MDIC).Patient centered benefit\u2010risk project report: A framework for incorporating information on patient preferences regarding benefit and risk into regulatory assessments of new medical technology."},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23272"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-018-3555-3"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2015-0518"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns7040077"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-015-9872-2"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinthera.2014.04.011"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1371\/currents.RRN1309"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1007\/s43441-022-00389-x"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2012.06.256"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2018.05.035"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27532"},{"key":"e_1_2_8_42_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2014-306366"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12884-019-2278-7"},{"key":"e_1_2_8_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2020.06.001"},{"key":"e_1_2_8_45_1","unstructured":"What is the purpose of newborn screening? Eunice Kennedy Shriver National Institute of Child Health and Human Development.https:\/\/www.nichd.nih.gov\/health\/topics\/newborn\/conditioninfo\/purpose#:~:text=The%20purpose%20of%20newborn%20screening%20is%20to%20detect%20potentially%20fatal of%20a%20disease%20or%20condition 2022."},{"key":"e_1_2_8_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.healthpol.2020.07.007"},{"key":"e_1_2_8_47_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.301"},{"key":"e_1_2_8_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jval.2016.11.007"},{"key":"e_1_2_8_49_1","doi-asserted-by":"publisher","DOI":"10.1177\/2381468317746170"},{"key":"e_1_2_8_50_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns8020023"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31992","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.c.31992","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31992","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T05:16:26Z","timestamp":1692681386000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.31992"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6]]},"references-count":49,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022,6]]}},"alternative-id":["10.1002\/ajmg.c.31992"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.31992","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6]]},"assertion":[{"value":"2022-04-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-07-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}