{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T08:46:30Z","timestamp":1783413990091,"version":"3.54.6"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,2,22]],"date-time":"2021-02-22T00:00:00Z","timestamp":1613952000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,2,22]],"date-time":"2021-02-22T00:00:00Z","timestamp":1613952000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>With the approval of three treatments for spinal muscular atrophy (SMA) and several promising therapies on the horizon, the SMA adolescent and young adult populations are expected to evolve in the coming years. It is imperative to understand this cohort as it exists today to provide optimal care and resources, as well as to assess possible treatment effects over time. In 2018, Cure SMA launched two initiatives geared towards understanding adolescents and young adults with SMA, ages 12\u201325. First, Cure SMA launched a Quality of Life (QoL) survey to capture quantitative and qualitative information on this specific age demographic. Concurrently, Cure SMA invited SMA-affected individuals, ages 12\u201325, to create a three-minute video on their everyday experiences living with SMA. An inductive thematic analysis of the free-text survey questions along with the video contest findings are reported here.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Eighty-five individuals\u20146 type Is, 58 type IIs, and 21 type IIIs\u2014completed the Quality of Life free-response, while six individuals participated in the SMA awareness video contest. In both settings, individuals detailed a variety of challenges, including but not limited to forming or maintaining close relationships, experiencing feelings of isolation, challenges with accessibility, independence, and dealing with the stigma of being perceived as mentally disabled. Individuals also discussed their successes, including but not limited to higher education enrollment and attendance, development of quality friendships, and perseverance through obstacles. Additionally, notably in the survey, 39% of respondents requested the creation of an SMA peer support group in efforts to connect with each other as well as collectively navigate the aforementioned challenges they face.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Together, these findings provide a rare glimpse into the unique mindsets, challenges and motivations of SMA adolescents and young adults, via patient-reported measures instead of caregiver proxy. The adolescent and young adult age demographics assessed represent a critical transition period in life and in SMA care. No one understands the needs of an adolescent or young adult with SMA better than the individuals themselves, and it is critical to encapsulate their insights to affect change.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-021-01701-y","type":"journal-article","created":{"date-parts":[[2021,2,22]],"date-time":"2021-02-22T07:04:16Z","timestamp":1613977456000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["\u201cI have SMA, SMA doesn\u2019t have me\u201d: a qualitative snapshot into the challenges, successes, and quality of life of adolescents and young adults with SMA"],"prefix":"10.1186","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0346-8659","authenticated-orcid":false,"given":"Allison","family":"Mazzella","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Curry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Belter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ros\u00e1ngel","family":"Cruz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Jarecki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,2,22]]},"reference":[{"issue":"1","key":"1701_CR1","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","volume":"80","author":"S Lefebvre","year":"1995","unstructured":"Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. 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Written informed consent was obtained from all adult respondents prior to the conduct of any research related activities. For minor adolescent respondents (ages 12\u201318), written consent from a parent\/guardian was obtained, as well as the survey respondent\u2019s assent thereafter. Regarding the awareness video contest, the project was submitted for and received IRB exemption for the purposes of retrospective analysis (Approval Number 1-1305771-1). All contest participants consented to publication and posting their videos on the Cure SMA YouTube page.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"All survey respondents and video contest participants. All participants provided written consent for participation in the study and the publication of the findings prior to research participation.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"AM, MC, LB, RC, and JJ are employees of Cure SMA and report grants for the Industry Collaboration, which provided funding for this project. The support received to conduct this study was noted and it does not result in a conflict of interest for any of the authors. The authors have indicated that they have no other conflicts of interest regarding the content of this article. Study sponsor did not participate in study design, collection, data analysis or interpretation of data or writing of the manuscript, it was the decision of Cure SMA to submit this manuscript for publication.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"96"}}