{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T06:17:22Z","timestamp":1772000242631,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,6,19]],"date-time":"2022-06-19T00:00:00Z","timestamp":1655596800000},"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":["Muscle and Nerve"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction\/Aims<\/jats:title><jats:p>Spinal muscular atrophy (SMA) treatment may increase survival and improve physical function among adolescents and young adults. Validated patient\u2010reported outcome measures are needed to understand which treatment benefits are clinically meaningful and to develop targeted resources for this population. To date, use of the SMA Health Index (SMA\u2010HI) in pediatric and young adult populations has been limited. Here, we report results from a survey of adolescents and young adults with SMA to quantifiably understand individuals' perceptions of disease burden.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Participants aged 12\u201325\u2009y with a self\u2010reported diagnosis of SMA completed an online survey containing demographic questions and the SMA\u2010HI, a patient\u2010reported outcome measure that assesses individuals' perceptions of disease burden in 15 symptomatic areas.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Eighty\u2010eight participants completed the survey. Total SMA\u2010HI scores and SMA\u2010HI subscale scores including shoulder and arm function; back, chest, and abdominal function; activity participation; hand and finger strength; swallowing function; gastrointestinal function; respiratory function; mobility and ambulation, and total disease burden were significantly higher (greater disease burden) in patients with poorer motor function and severe SMA. SMA\u2010HI total and subscale scores were generally lower in adolescents (12\u201317\u2009y old) versus adults (18\u201325\u2009y old), suggesting a possible progression of symptomatic disease burden over time.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>This study demonstrates the utility of the SMA\u2010HI for measuring clinically relevant disease burden in adolescents and young adults with SMA. This study demonstrates how disease burden varies by age, SMA type, and other demographics.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.27644","type":"journal-article","created":{"date-parts":[[2022,5,26]],"date-time":"2022-05-26T13:58:59Z","timestamp":1653573539000},"page":"276-281","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Assessing perspectives of disease burden and clinically meaningful changes using the Spinal Muscular Atrophy Health Index in adolescents and young adults"],"prefix":"10.1002","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0346-8659","authenticated-orcid":false,"given":"Allison","family":"Mazzella","sequence":"first","affiliation":[{"name":"Cure SMA  Elk Grove Village Illinois USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ros\u00e1ngel","family":"Cruz","sequence":"additional","affiliation":[{"name":"Cure SMA  Elk Grove Village Illinois USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"Belter","sequence":"additional","affiliation":[{"name":"Cure SMA  Elk Grove Village Illinois USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary","family":"Curry","sequence":"additional","affiliation":[{"name":"Cure SMA  Elk Grove Village Illinois USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuran","family":"Dilek","sequence":"additional","affiliation":[{"name":"University of Rochester  Rochester New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Zizzi","sequence":"additional","affiliation":[{"name":"University of Rochester  Rochester New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chad","family":"Heatwole","sequence":"additional","affiliation":[{"name":"Cure SMA  Elk Grove Village Illinois USA"},{"name":"University of Rochester  Rochester New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jill","family":"Jarecki","sequence":"additional","affiliation":[{"name":"Cure SMA  Elk Grove Village Illinois USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,6,19]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1995.00540290108025"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ncl.2015.07.004"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-015-0473-3"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24497"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000741"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01498-2"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-017-0853-y"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27223"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.02.006"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01701-y"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000006241"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.01.018"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1052-2"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0810-x"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0266462316000271"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1524-4733.2007.00272.x"}],"container-title":["Muscle &amp; 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