{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T14:59:37Z","timestamp":1780498777574,"version":"3.54.1"},"reference-count":45,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,12,20]],"date-time":"2022-12-20T00:00:00Z","timestamp":1671494400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Public Health"],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>Spinal muscular atrophy (SMA) is a rare autosomal-recessive neuromuscular disease. Health state utility values (HSUV) are used in health economic evaluation regarding the desirability of health outcomes such as a certain health state or change in health states over time. There is no utility data of Chinese patients with SMA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and methods<\/jats:title><jats:p>Vignettes were developed for 10 pediatric neurologists to value the utility of Chinese patients with Type I SMA. A mixed patient\/proxy derived approach using EQ-5D-Y-3L, EQ-5D-3L, and CHU9D was adopted to estimate the HSUV data of patients with Type II and III SMA, including 112 patients and 301 caregivers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Result<\/jats:title><jats:p>The utility of Type I SMA patients ranged from 0.19 to 0.72 with the health state improved from \u201cpermanent ventilation\u201d to \u201cwalking\u201d. The utility of children patients with Type II and III SMA derived from EQ-5D-Y-3L ranged from 0.33 to 0.82 while that derived from CHU9D ranged from 0.46 to 0.75. The utility of adult patients with Type II and III SMA measured by EQ-5D-3L ranged from 0.30 to 0.83.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The better health states the patients with SMA were in, the higher were the HSUV. The utilities derived from population with different age and disease subtypes were not statistically different when patients with SMA were in the same health states. We recommend further studies on the Chinese specific value set for EQ-5D-Y-3L and other PBMs for children to derive more robust utility data.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fpubh.2022.1054931","type":"journal-article","created":{"date-parts":[[2022,12,20]],"date-time":"2022-12-20T15:48:37Z","timestamp":1671551317000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":10,"title":["Utility estimations of different health states of patients with type I, II, and III spinal muscular atrophy in China: A mixed approach study with patient and proxy-reported data"],"prefix":"10.3389","volume":"10","author":[{"given":"Jiahao","family":"Hu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Han","family":"Bao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuhan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huanping","family":"Xing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qi","family":"Kang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunlin","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,12,20]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13023-017-0671-8","article-title":"Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review","volume":"12","author":"Verhaart","year":"2017","journal-title":"Orphanet J Rare Dis."},{"key":"B2","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell."},{"key":"B3","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1002\/ana.24864","article-title":"Emerging therapies and challenges in spinal muscular atrophy","volume":"81","author":"Farrar","year":"2017","journal-title":"Ann Neurol."},{"key":"B4","doi-asserted-by":"publisher","first-page":"39","DOI":"10.4137\/JEN.S33122","article-title":"Molecular mechanisms of neurodegeneration in spinal muscular atrophy","volume":"10","author":"Ahmad","year":"2016","journal-title":"J Exp Neurosci."},{"key":"B5","doi-asserted-by":"publisher","first-page":"e18975","DOI":"10.1097\/MD.0000000000018975","article-title":"The prevalence of spinal muscular atrophy carrier in China: evidences from epidemiological surveys","volume":"99","author":"Li","year":"2020","journal-title":"Medicine."},{"key":"B6","doi-asserted-by":"publisher","first-page":"946","DOI":"10.1177\/0883073807305673","article-title":"Spinal muscular atrophy: Clinical classification and disease heterogeneity","volume":"22","author":"Russman","year":"2007","journal-title":"J Child Neurol."},{"key":"B7","doi-asserted-by":"publisher","first-page":"32","DOI":"10.4103\/2231-0770.197512","article-title":"Very severe spinal muscular atrophy (Type 0) avicenna","volume":"7","author":"Al Dakhoul","year":"2017","journal-title":"J Med."},{"key":"B8","doi-asserted-by":"publisher","first-page":"1931","DOI":"10.1212\/01.wnl.0000290830.40544.b9","article-title":"The changing natural history of spinal muscular atrophy type 1","volume":"69","author":"Oskoui","year":"2007","journal-title":"Neurology."},{"key":"B9","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1016\/j.nmd.2008.02.008","article-title":"Feeding problems and malnutrition in spinal muscular atrophy type II","volume":"18","author":"Messina","year":"2008","journal-title":"Neuromuscul Disord."},{"key":"B10","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1016\/S0022-510X(96)00284-5","article-title":"collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients","volume":"146","author":"Zerres","year":"1997","journal-title":"J Neurol Sci."},{"key":"B11","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1016\/j.nmd.2017.11.005","article-title":"Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care","volume":"28","author":"Mercuri","year":"2018","journal-title":"Neuromuscul Disord."},{"key":"B12","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1016\/j.nmd.2017.11.004","article-title":"Diagnosis and management of spinal muscular atrophy: part 2: pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics","volume":"28","author":"Finkel","year":"2018","journal-title":"Neuromuscul Disord."},{"key":"B13","doi-asserted-by":"publisher","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","article-title":"Nusinersen versus sham control in infantile-onset spinal muscular atrophy","volume":"377","author":"Finkel","year":"2017","journal-title":"N Engl J Med."},{"key":"B14","doi-asserted-by":"publisher","first-page":"6501","DOI":"10.1021\/acs.jmedchem.8b00741","article-title":"Discovery of risdiplam, a selective survival of motor neuron-2 (SMN2) gene splicing modifier for the treatment of spinal muscular atrophy (SMA)","volume":"61","author":"Ratni","year":"2018","journal-title":"J Med Chem."},{"key":"B15","unstructured":"Risdiplam for Treating Spinal Muscular Atrophy in Children and Adults [ID1631].2021"},{"key":"B16","unstructured":"Spinraza2019"},{"key":"B17","doi-asserted-by":"publisher","first-page":"845","DOI":"10.1007\/s40273-019-00769-6","article-title":"Cost effectiveness of nusinersen in the treatment of patients with infantile-onset and later-onset spinal muscular atrophy in Sweden","volume":"37","author":"Zuluaga-Sanchez","year":"2019","journal-title":"Pharmacoeconomics."},{"key":"B18","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s12962-020-00234-8","article-title":"Cost effectiveness of nusinersen for patients with infantile-onset spinal muscular atrophy in US","volume":"18","author":"Thokala","year":"2020","journal-title":"Cost Eff Resour Alloc."},{"key":"B19","volume-title":"Single Technology Appraisal-Nusinersen for Treating Spinal Muscular Atrophy","year":"2019"},{"key":"B20","doi-asserted-by":"publisher","first-page":"1601484","DOI":"10.1080\/20016689.2019.1601484","article-title":"Cost-effectiveness analysis of using onasemnogene abeparvocec (AVXS-101) in spinal muscular atrophy type 1 patients","volume":"7","author":"Malone","year":"2019","journal-title":"J Mark Access Heal Policy."},{"key":"B21","unstructured":"Pharmacoeconomic Review Report - NUSINERSEN2020"},{"key":"B22","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1146\/annurev.publhealth.21.1.587","article-title":"Preference-based measures in economic evaluation in health care","author":"Neumann","year":"2000","journal-title":"Annu Rev Public Health"},{"key":"B23","unstructured":"Chinese Pharmacoeconomics Evaluation Guideline, 2019 Version2019"},{"key":"B24","doi-asserted-by":"publisher","first-page":"693","DOI":"10.1007\/s40273-014-0153-y","article-title":"Mapping EQ-5D utility scores from the PedsQL\u2122 generic core scales","volume":"32","author":"Khan","year":"2014","journal-title":"Pharmacoeconomics."},{"key":"B25","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1212\/WNL.0000000000009715","article-title":"Prenusinersen economic and health-related quality of life burden of spinal muscular atrophy","volume":"95","author":"Chambers","year":"2020","journal-title":"Neurology."},{"key":"B26","doi-asserted-by":"publisher","first-page":"615","DOI":"10.2147\/CEOR.S214084","article-title":"Estimation of the quality of life benefits associated with treatment for spinal muscular atrophy","volume":"11","author":"Lloyd","year":"2019","journal-title":"Clin Outcomes Res."},{"key":"B27","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13023-017-0695-0","article-title":"Social\/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain","volume":"12","author":"L\u00f3pez-Bastida","year":"2017","journal-title":"Orphanet J Rare Dis."},{"key":"B28","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1007\/s40273-021-01092-9","article-title":"Preferences and utilities for treatment attributes in type 2 and non-ambulatory type 3 spinal muscular atrophy in the United Kingdom","volume":"40","author":"Lo","year":"2022","journal-title":"Pharmacoeconomics."},{"key":"B29","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13023-020-01638-8","article-title":"Quality of life of children with spinal muscular atrophy and their caregivers from the perspective of caregivers: a Chinese cross-sectional study","volume":"16","author":"Yao","year":"2021","journal-title":"Orphanet J Rare Dis."},{"key":"B30","doi-asserted-by":"publisher","first-page":"S339","DOI":"10.1016\/j.jval.2020.04.1284","article-title":"Pro62 spinal muscular atrophy: development of natural history models for disease subtypes","volume":"23","author":"Paracha","year":"2020","journal-title":"Value Health."},{"key":"B31","doi-asserted-by":"publisher","first-page":"812","DOI":"10.1016\/j.jval.2020.12.017","article-title":"Vignette-Based Utilities: Usefulness, Limitations, and Methodological Recommendations","volume":"24","author":"Matza","year":"2021","journal-title":"Value Heal"},{"key":"B32","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1371\/journal.pone.0238786","article-title":"Assessment of the validity and reliability of the 32-item motor function measure in individuals with type 2 or non-ambulant type 3 spinal muscular atrophy","volume":"15","author":"Trundell","year":"2020","journal-title":"PLoS ONE."},{"key":"B33","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s12883-017-0790-9","article-title":"Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy","volume":"17","author":"Pera","year":"2017","journal-title":"BMC Neurol."},{"key":"B34","unstructured":"EQ-5D-Y User Guide.2020"},{"key":"B35","doi-asserted-by":"publisher","first-page":"432","DOI":"10.1016\/j.jval.2015.02.014","article-title":"Assessing the health-related quality of life of Australian adolescents: an empirical comparison of the child health utility 9D and EQ-5D-Y instruments","volume":"18","author":"Chen","year":"2015","journal-title":"Value Health."},{"key":"B36","doi-asserted-by":"publisher","first-page":"1330","DOI":"10.1016\/j.jval.2018.04.1370","article-title":"Time trade-off value set for EQ-5D-3L based on a nationally representative Chinese population survey","volume":"21","author":"Zhuo","year":"2018","journal-title":"Value Health."},{"key":"B37","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1007\/s11136-018-2032-z","article-title":"Scoring the child health utility 9D instrument: estimation of a Chinese child and adolescent-specific tariff","volume":"28","author":"Chen","year":"2019","journal-title":"Qual Life Res."},{"key":"B38","doi-asserted-by":"publisher","first-page":"613","DOI":"10.1177\/001316447303300309","article-title":"The equivalence of weighted kappa and the intraclass correlation coefficient as measures of reliability","volume":"33","author":"Fleiss","year":"1973","journal-title":"Educ Psychol Meas."},{"key":"B39","doi-asserted-by":"publisher","first-page":"33","DOI":"10.3233\/JND-190399","article-title":"Spinal muscular atrophy (SMA) subtype concordance in siblings: findings from the cure SMA cohort","volume":"7","author":"Jones","year":"2020","journal-title":"J Neuromuscul Dis."},{"key":"B40","doi-asserted-by":"publisher","first-page":"1","DOI":"10.7189\/jogh.11.08001","article-title":"Population norms for the EQ-5D-3L in China derived from the 2013 National Health Services Survey","volume":"11","author":"Yao","year":"2021","journal-title":"J Glob Health."},{"key":"B41","first-page":"1","volume-title":"NICE Health Technology Evaluations: The Manual","year":"2022"},{"key":"B42","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1136\/bmjopen-2020-037089","article-title":"Comparison of the CHU-9D and the EQ-5D-Y instruments in children and young people with cerebral palsy: a cross-sectional study","volume":"10","author":"Ryan","year":"2020","journal-title":"BMJ Open."},{"key":"B43","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1007\/s11136-015-1108-2","article-title":"Japanese population norms for preference-based measures: EQ-5D-3L, EQ-5D-5L, and SF-6D","volume":"25","author":"Shiroiwa","year":"2016","journal-title":"Qual Life Res."},{"key":"B44","doi-asserted-by":"publisher","first-page":"1299","DOI":"10.1007\/s40273-021-01063-0","article-title":"EQ-5D-Y population norms for Japanese children and adolescents","volume":"39","author":"Shiroiwa","year":"2021","journal-title":"Pharmacoeconomics."},{"key":"B45","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1007\/s40273-021-01115-5","article-title":"Systematic literature review to identify utility values in patients with spinal muscular atrophy (SMA) and their caregivers","volume":"40","author":"Sutherland","year":"2022","journal-title":"Pharmacoeconomics"}],"container-title":["Frontiers in Public Health"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fpubh.2022.1054931\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,20]],"date-time":"2022-12-20T15:48:42Z","timestamp":1671551322000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fpubh.2022.1054931\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,20]]},"references-count":45,"alternative-id":["10.3389\/fpubh.2022.1054931"],"URL":"https:\/\/doi.org\/10.3389\/fpubh.2022.1054931","relation":{},"ISSN":["2296-2565"],"issn-type":[{"value":"2296-2565","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,20]]},"article-number":"1054931"}}