{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T23:23:51Z","timestamp":1778801031714,"version":"3.51.4"},"reference-count":31,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2023,12,26]],"date-time":"2023-12-26T00:00:00Z","timestamp":1703548800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2024,1,2]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Spinal muscular atrophy (SMA) is a genetic neurodegenerative disorder with onset predominantly in infants and children. In recent years, newborn screening and three treatments, including gene replacement therapy (Onasemnogene abeparvovec-xioi), have become available in the United States, aiding in the diagnosis and treatment of children with SMA.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>To evaluate parents\u2019 experiences with newborn screening and gene replacement therapy and to explore best practices for positive newborn screen disclosure and counseling of families.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>We conducted semi-structured interviews ( n\u200a=\u200a32) and online surveys ( n\u200a=\u200a79) of parents whose children were diagnosed with SMA (on newborn screening or symptomatically) and treated with gene replacement therapy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>Gene replacement therapy was most parents\u2019 first treatment choice, although concerns regarding long term efficacy (65%) and safety (51%) were common. Information provided during the newborn screening disclosure was quite variable. Only 34% of parents reported the information provided was sufficient and expressed need for more information about treatment. Although many parents experienced denial of the diagnosis at initial disclosure, 94% were in favor of inclusion of SMA on newborn screening. Parents were almost universally anxious following diagnosis and over half remained anxious at the time of study participation with uncertainty of the future being a key concern. Many parents had difficulty processing information provided during their first clinic appointment due to its complexity and their emotional state at the time.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>Utilizing this data, we provide a recommendation for the information provided in newborn screening disclosure, propose adjustments to education and counseling during the first clinic visit, and bring awareness of parents\u2019 mental health difficulties.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/jnd-230082","type":"journal-article","created":{"date-parts":[[2023,12,29]],"date-time":"2023-12-29T12:22:38Z","timestamp":1703852558000},"page":"129-142","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":11,"title":["Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy"],"prefix":"10.1177","volume":"11","author":[{"given":"Alayne P.","family":"Meyer","sequence":"first","affiliation":[{"name":"Division of Genetic and Genomic Medicine, Nationwide Children\u2019s Hospital, Columbus, Ohio, United States"},{"name":"Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children\u2019s Hospital, Columbus, Ohio, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne M.","family":"Connolly","sequence":"additional","affiliation":[{"name":"Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children\u2019s Hospital, Columbus, Ohio, United States"},{"name":"Department of Pediatrics, The Ohio State University Wexner Medical Center, Columbus, Ohio, United States"},{"name":"Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, Ohio, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathryn","family":"Vannatta","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The Ohio State University Wexner Medical Center, Columbus, Ohio, United States"},{"name":"Center for Biobehavioral Health, Nationwide Children\u2019s Hospital, Columbus, Ohio, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natasha","family":"Hacker","sequence":"additional","affiliation":[{"name":"Center for Biobehavioral Health, Nationwide Children\u2019s Hospital, Columbus, Ohio, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Hatfield","sequence":"additional","affiliation":[{"name":"Center for Biobehavioral Health, Nationwide Children\u2019s Hospital, Columbus, Ohio, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abigail","family":"Decipeda","sequence":"additional","affiliation":[{"name":"Center for Biobehavioral Health, Nationwide Children\u2019s Hospital, Columbus, Ohio, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Parker","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, The Ohio State University, Columbus, OH, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ava","family":"Willoughby","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, The Ohio State University, Columbus, OH, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Megan A.","family":"Waldrop","sequence":"additional","affiliation":[{"name":"Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children\u2019s Hospital, Columbus, Ohio, United States"},{"name":"Department of Pediatrics, The Ohio State University Wexner Medical Center, Columbus, Ohio, United States"},{"name":"Department of Neurology, The Ohio State University Wexner Medical 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Screening State Program Map. 2022 [cited. 2023 1\/19\/2023]; Available from: https:\/\/www.curesma.org\/newborn-screening-for-sma\/."},{"key":"ref014","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.03.007"},{"key":"ref015","unstructured":"Zolgensma Global Managed Access Program in. 2023. 2023 [cited. 2023; Available from: https:\/\/www.novartis.com\/news\/zolgensma-global-managed-access-program-2023."},{"key":"ref016","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38220"},{"key":"ref017","doi-asserted-by":"publisher","DOI":"10.1111\/hex.12602"},{"key":"ref018","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38031"},{"key":"ref019","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24100"},{"key":"ref020","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-015-0473-3"},{"key":"ref021","doi-asserted-by":"publisher","DOI":"10.1177\/08830738211040292"},{"key":"ref022","doi-asserted-by":"publisher","DOI":"10.1016\/j.eclinm.2021.100742"},{"key":"ref023","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2015.06.002"},{"key":"ref024","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.03.002"},{"key":"ref025","doi-asserted-by":"publisher","DOI":"10.1097\/JPN.0b013e3181a1bc1f"},{"key":"ref026","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2010-3413"},{"key":"ref027","doi-asserted-by":"publisher","DOI":"10.1177\/1367493512443906"},{"key":"ref028","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-022-03160-1"},{"key":"ref029","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-016-9959-4"},{"key":"ref030","doi-asserted-by":"publisher","DOI":"10.1177\/0009922812446011"},{"key":"ref031","doi-asserted-by":"publisher","DOI":"10.1016\/j.socscimed.2008.06.003"}],"container-title":["Journal 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