{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T22:37:48Z","timestamp":1785451068781,"version":"3.56.0"},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,3,24]],"date-time":"2021-03-24T00:00:00Z","timestamp":1616544000000},"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":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>The Spinal Muscular Atrophy Health Index (SMA\u2010HI) is a multifaceted, disease\u2010specific, patient\u2010reported outcome to measure an SMA patient's perception of their disease burden. In preparation for upcoming therapeutic trials, we examine the validity, reliability, and usability of the SMA\u2010HI in adults, teenagers, and children with SMA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Using data from a cross\u2010sectional study of 359 international adult patients with SMA, we identified the most relevant symptoms to include in the SMA\u2010HI. We utilized factor analysis, patient interviews with adults and minors (age 8\u201015\u2009years), known\u2010group validity testing, and test\u2010retest reliability assessments to evaluate and refine the SMA\u2010HI.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The SMA\u2010HI measures overall disease burden and 15 areas of SMA health. Fifteen adult patients and five patients, age 8 to 15\u2009years, participated in semistructured qualitative interviews and found the SMA\u2010HI to be comprehensive, easily completed, and to have clear meaning. The final SMA\u2010HI and its subscales demonstrated good internal consistency (Cronbach \u03b1\u00a0=\u00a00.77\u20100.96), high test\u2010retest reliability (intraclass correlation coefficient\u00a0=\u00a00.60\u20100.96), and an ability to differentiate between SMA groups with different disease severities affecting areas such as employment and ambulation (<jats:italic>P<\/jats:italic>\u2009&lt;\u2009.0001 for both).<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>This research provides evidence that the SMA\u2010HI is a valid, relevant, and reliable outcome measure to assess multifaceted patient\u2010reported disease burden in older children, teenagers, and adults with SMA. The SMA\u2010HI provides an opportunity for researchers and clinicians to measure a SMA patient's perception of their health and determine relevant changes in response to therapeutic intervention or disease progression.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.27223","type":"journal-article","created":{"date-parts":[[2021,3,12]],"date-time":"2021-03-12T18:04:29Z","timestamp":1615572269000},"page":"837-844","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["The Spinal Muscular Atrophy Health Index: A novel outcome for measuring how a patient feels and functions"],"prefix":"10.1002","volume":"63","author":[{"given":"Christine E.","family":"Zizzi","sequence":"first","affiliation":[{"name":"Department of Neurology University of Rochester Rochester New York USA"},{"name":"Center for Health and Technology Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Luebbe","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phillip","family":"Mongiovi","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Hunter","sequence":"additional","affiliation":[{"name":"Department of Neurology University of California Irvine Orange California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nuran","family":"Dilek","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Connie","family":"Garland","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurological Surgery Indiana University School of Medicine Indianapolis Indiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Ciafaloni","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Craig M.","family":"Zaidman","sequence":"additional","affiliation":[{"name":"Department of Neurology Washington University in St. Louis School of Medicine St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John T.","family":"Kissel","sequence":"additional","affiliation":[{"name":"Department of Neurology The Ohio State University Wexner Medical Center Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael P.","family":"McDermott","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester Rochester New York USA"},{"name":"Center for Health and Technology Rochester New York USA"},{"name":"Department of Biostatistics and Computational Biology University of Rochester Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3917-4257","authenticated-orcid":false,"given":"Nicholas","family":"Johnson","sequence":"additional","affiliation":[{"name":"Department of Neurology Virginia Commonwealth University Richmond Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Sansone","sequence":"additional","affiliation":[{"name":"NEuroMuscular Omnicentre (NEMO), Piazza Ospedale Maggiore 3 Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chad R.","family":"Heatwole","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester Rochester New York USA"},{"name":"Center for Health and Technology Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,3,24]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0671-8"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/344767a0"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1706198"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-190403"},{"key":"e_1_2_9_6_1","unstructured":"US Department of Health and Human Services Food and Drug Administration Center for Drug Evaluation and Research Center for Biologics Evaluation and Research Center for Devices and Radiological Health. Guidance for industry patient\u2010reported outcome measures: use in medical product development to support labeling claims. Silver Spring MD: Office of Communications Division of Drug Information FDA. 2009."},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000006241"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24097"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25282"},{"key":"e_1_2_9_10_1","unstructured":"International SMA Patient Registry Indiana University.2015.smaregistry.iu.edu. Accessed August 29 2015."},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-160168"},{"key":"e_1_2_9_12_1","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1093\/oso\/9780198527695.003.0002","volume-title":"Assessing Quality of Life in Clinical Trials","author":"McColl E","year":"2005"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0197-2456(05)80019-4"},{"key":"e_1_2_9_14_1","first-page":"19","article-title":"Early infantile form of spinal muscular atrophy (Werdnig\u2010Hoffmann disease) with prolonged survival","volume":"40","author":"Borkowska J","year":"2002","journal-title":"Folia Neuropathol."},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000009248"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.27223","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mus.27223","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.27223","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,25]],"date-time":"2024-08-25T22:44:35Z","timestamp":1724625875000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.27223"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,24]]},"references-count":14,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["10.1002\/mus.27223"],"URL":"https:\/\/doi.org\/10.1002\/mus.27223","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,24]]},"assertion":[{"value":"2020-04-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}