{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T11:21:16Z","timestamp":1788520876562,"version":"build-2803163510"},"reference-count":47,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2023,3,7]],"date-time":"2023-03-07T00:00:00Z","timestamp":1678147200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JND"],"published-print":{"date-parts":[[2023,3,7]]},"abstract":"<jats:p>BACKGROUND: Spinal Muscular Atrophy (SMA) is a hereditary neuromuscular disease with an estimated prevalence of 1\/10 000 births. SMA is increasingly recognized as a multi-system disease with a need to study additional under-recognized health domains such as quality of life, fatigue, bulbar function, respiratory function, and independence. OBJECTIVE: Identify and assess reported evidence from the literature investigating Patient Reported Outcome Measures (PROMs) in adults with SMA. Develop a novel method drawing from network theory to graphically depict the literature, PROMs, and supporting psychometric evidence. METHODS: A scoping review was completed following PRISM-ScR, COSMIN and JBI scoping review guidelines. Literature investigating PROMs in adult SMA or neuromuscular disease was identified from peer-reviewed and grey databases. A network graph was derived from extracted data. RESULTS: 5292 articles were retrieved, 81 articles met inclusion criteria; corresponding to 31 unique PROMs. Only two PROMs were developed specifically for SMA. Few PROMs covered multiple domains of health. Most PROMs were incompletely validated, focusing on concurrent validity, and few assessed responsiveness or internal consistency. CONCLUSIONS: PROMs are emerging tools for monitoring and assessing adults with SMA. Despite their potential benefits, additional validation studies should be completed prior to their use for clinical decision-making. Network graphics may represent a technique to aid in the visualization of evidence supporting a scoping review.<\/jats:p>","DOI":"10.3233\/jnd-221595","type":"journal-article","created":{"date-parts":[[2022,12,13]],"date-time":"2022-12-13T11:54:35Z","timestamp":1670932475000},"page":"239-250","source":"Crossref","is-referenced-by-count":27,"title":["Patient Reported Outcome Measures in Adult Spinal Muscular Atrophy: A Scoping Review and Graphical Visualization of the Evidence"],"prefix":"10.1177","volume":"10","author":[{"given":"Jeremy","family":"Slayter","sequence":"first","affiliation":[{"name":"Dalhousie Medicine New Brunswick, Faculty of Medicine, Dalhousie University, Saint John, NB, Canada"},{"name":"Stan Cassidy Centre for Rehabilitation, Horizon Health Network, Fredericton, NB, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Casey","sequence":"additional","affiliation":[{"name":"Stan Cassidy Centre for Rehabilitation, Horizon Health Network, Fredericton, NB, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colleen","family":"O\u2019Connell","sequence":"additional","affiliation":[{"name":"Dalhousie Medicine New Brunswick, Faculty of Medicine, Dalhousie University, Saint John, NB, Canada"},{"name":"Stan Cassidy Centre for Rehabilitation, Horizon Health Network, Fredericton, NB, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","reference":[{"key":"10.3233\/JND-221595_ref1","doi-asserted-by":"crossref","first-page":"g7818","DOI":"10.1136\/bmj.g7818","article-title":"Patient reported outcome measures in practice","volume":"350","author":"Nelson","year":"2015","journal-title":"BMJ"},{"key":"10.3233\/JND-221595_ref2","doi-asserted-by":"crossref","first-page":"f167","DOI":"10.1136\/bmj.f167","article-title":"Patient reported outcome measures could help transformhealthcare","volume":"346","author":"Black","year":"2013","journal-title":"BMJ"},{"key":"10.3233\/JND-221595_ref4","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1186\/s41687-018-0061-6","article-title":"How do patient reported outcome measures (PROMs) supportclinician-patient communication and patient care? A realistsynthesis","volume":"2","author":"Greenhalgh","year":"2018","journal-title":"Journal of Patient-Reported Outcomes"},{"key":"10.3233\/JND-221595_ref5","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1186\/s13023-017-0718-x","article-title":"Measuring what matters to rare disease patients\u2013reflections on the work by the IRDiRC taskforce onpatient-centered outcome measures","volume":"12","author":"Morel","year":"2017","journal-title":"Orphanet Journal of RareDiseases"},{"key":"10.3233\/JND-221595_ref6","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.measurement.2019.03.056","article-title":"Towards consensusmeasurement standards for patient-centered outcomes","volume":"141","author":"Cano","year":"2019","journal-title":"Measurement"},{"key":"10.3233\/JND-221595_ref8","first-page":"9","article-title":"Patient-reported outcome measures in arthroplasty registries","volume":"87","author":"Rolfson","year":"2016","journal-title":"ActaOrthop"},{"key":"10.3233\/JND-221595_ref9","doi-asserted-by":"crossref","first-page":"1535","DOI":"10.1093\/ckj\/sfz192","article-title":"Routinely measuringsymptom burden and health-related quality of life in dialysispatients: First results from the Dutch registry of patient-reportedoutcome measures","volume":"14","author":"van der Willik","year":"2021","journal-title":"Clinical Kidney Journal"},{"key":"10.3233\/JND-221595_ref10","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1111\/j.1469-8749.2008.00408.x","article-title":"Watch out, watch out, the FDA are about","volume":"50","author":"Cano","year":"2008","journal-title":"Developmental Medicine & Child Neurology"},{"key":"10.3233\/JND-221595_ref11","first-page":"149","article-title":"Best Practices for Developing and Validating Scales for Health,Social, and Behavioral Research: A Primer","volume":"6","author":"Boateng","year":"2018","journal-title":"Frontiers in PublicHealth."},{"key":"10.3233\/JND-221595_ref12","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1111\/sms.13892","article-title":"What is a PROM and why do we need it?","volume":"31","author":"Krogsgaard","year":"2021","journal-title":"Scandinavian Journal of Medicine & Science in Sports"},{"key":"10.3233\/JND-221595_ref13","first-page":"940","article-title":"A critical review of patient and parent caregiver oriented toolsto assess health-related quality of life, activity of daily livingand caregiver burden in spinal muscular atrophy","volume":"29","author":"Messina","year":"2019","journal-title":"NeuromuscularDisorders"},{"key":"10.3233\/JND-221595_ref14","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1007\/s11136-018-1798-3","article-title":"COSMIN guideline for systematic reviews ofpatient-reported outcome measures","volume":"27","author":"Prinsen","year":"2021","journal-title":"Qual Life Res"},{"key":"10.3233\/JND-221595_ref15","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1186\/s13023-018-0810-x","article-title":"Patient reported outcome measures in rare diseases: A narrativereview","volume":"13","author":"Slade","year":"2018","journal-title":"Orphanet Journal of Rare Diseases."},{"key":"10.3233\/JND-221595_ref16","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1111\/sms.13868","article-title":"How to develop a condition-specific PROM","volume":"31","author":"Comins","year":"2021","journal-title":"Scandinavian Journalof Medicine & Science in Sports"},{"key":"10.3233\/JND-221595_ref17","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1186\/s13023-017-0671-8","article-title":"Prevalence, incidence and carrier frequency of5q\u2013linked spinal muscular atrophy \u2013a literaturereview","volume":"12","author":"Verhaart","year":"2017","journal-title":"Orphanet J Rare Dis."},{"key":"10.3233\/JND-221595_ref18","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/ejhg.2011.134","article-title":"Pan-ethnic carrier screening and prenatal diagnosis for spinalmuscular atrophy: Clinical laboratory analysis of>72,400 specimens","volume":"20","author":"Sugarman","year":"2012","journal-title":"Eur J Hum Genet"},{"key":"10.3233\/JND-221595_ref19","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1177\/0883073807305673","article-title":"Spinal Muscular Atrophy: Clinical Classification andDisease Heterogeneity","volume":"22","author":"Russman","year":"2007","journal-title":"J Child Neurol"},{"key":"10.3233\/JND-221595_ref20","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1007\/s13311-014-0314-x","article-title":"The Genetics of Spinal Muscular Atrophy: Progress and Challenges","volume":"12","author":"Farrar","year":"2015","journal-title":"Neurotherapeutics; New York"},{"key":"10.3233\/JND-221595_ref21","doi-asserted-by":"crossref","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":"Annals of Neurology"},{"key":"10.3233\/JND-221595_ref22","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1056\/NEJMoa1710504","article-title":"Nusinersen versus Sham Control in Later-Onset Spinal MuscularAtrophy","volume":"378","author":"Mercuri","year":"2018","journal-title":"The New England Journal of Medicine; Boston"},{"key":"10.3233\/JND-221595_ref23","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1038\/s41582-020-00413-4","article-title":"Spinal muscularatrophy \u2014 insights and challenges in the treatment era","volume":"16","author":"Mercuri","year":"2020","journal-title":"Nature Reviews Neurology"},{"key":"10.3233\/JND-221595_ref24","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/S1474-4422(20)30068-5","article-title":"Nusinersen in adults with spinal muscularatrophy: New challenges","volume":"19","author":"Mercuri","year":"2020","journal-title":"The Lancet Neurology"},{"key":"10.3233\/JND-221595_ref26","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.3390\/brainsci11091244","article-title":"Assessment of Bulbar Function in Adult Patients with5q-SMA Type 2 and 3 under Treatment with Nusinersen","volume":"11","author":"Brakemeier","year":"2021","journal-title":"Brain Sci"},{"key":"10.3233\/JND-221595_ref27","doi-asserted-by":"crossref","first-page":"1184","DOI":"10.3390\/brainsci11091184","article-title":"Cognitive Impairment in Adult Patients with 5q-AssociatedSpinal Muscular Atrophy","volume":"11","author":"Kizina","year":"2021","journal-title":"Brain Sci"},{"key":"10.3233\/JND-221595_ref28","doi-asserted-by":"crossref","first-page":"2398","DOI":"10.1007\/s00415-020-09847-8","article-title":"Treatment expectations and patient-reported outcomes ofnusinersen therapy in adult spinal muscular atrophy","volume":"267","author":"Osmanovic","year":"2020","journal-title":"J Neurol"},{"key":"10.3233\/JND-221595_ref30","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/S1474-4422(20)30037-5","article-title":"Nusinersen in adults with 5q spinal muscularatrophy: A non-interventional, multicentre, observational cohortstudy","volume":"19","author":"Hagenacker","year":"2020","journal-title":"The Lancet Neurology"},{"key":"10.3233\/JND-221595_ref31","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1186\/s13023-021-02065-z","article-title":"Motor function in type 2 and 3 SMA patients treated with Nusinersen:A critical review and meta-analysis","volume":"16","author":"Coratti","year":"2021","journal-title":"Orphanet Journal of RareDiseases."},{"key":"10.3233\/JND-221595_ref33","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1097\/XEB.0000000000000277","article-title":"Updated methodological guidance for the conduct of scopingreviews","volume":"19","author":"Peters","year":"2021","journal-title":"JBI Evidence Implementation"},{"key":"10.3233\/JND-221595_ref34","doi-asserted-by":"crossref","first-page":"467","DOI":"10.7326\/M18-0850","article-title":"PRISMA Extension for Scoping Reviews (PRISMA-ScR): Checklist andExplanation","volume":"169","author":"Tricco","year":"2018","journal-title":"Ann Intern Med"},{"key":"10.3233\/JND-221595_ref35","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1097\/XEB.0000000000000277","article-title":"Updated methodological guidance for the conduct of scopingreviews","volume":"19","author":"Peters","year":"2021","journal-title":"JBI Evidence Implementation"},{"key":"10.3233\/JND-221595_ref37","doi-asserted-by":"crossref","unstructured":"LitwinM How to Measure Survey Reliability and Validity. 2455 Teller Road, Thousand Oaks California 91320 United States: SAGE Publications, Inc.; 1995. https:\/\/doi.org\/10.4135\/9781483348957.","DOI":"10.4135\/9781483348957"},{"key":"10.3233\/JND-221595_ref38","unstructured":"Kellar SP , Kelvin EA Munro\u2019s Statistical Methods for Health Care Research. 6th Edition. Wolters Kluwer Health | Lippincott Williams and Wilkins; 2013."},{"key":"10.3233\/JND-221595_ref39","first-page":"15","article-title":"Statistical significant change versus relevant or important change in (quasi) experimental design: Some conceptual and methodological problems in estimating magnitude of intervention-related change in health services research","volume":"2","author":"Middel","year":"2002","journal-title":"Int J Integr Care.e"},{"key":"10.3233\/JND-221595_ref40","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1477-7525-4-89","article-title":"Assessing responsivenessof generic and specific health related quality of life measures inheart failure","volume":"4","author":"Eurich","year":"2006","journal-title":"Health Qual Life Outcomes"},{"key":"10.3233\/JND-221595_ref44","first-page":"1159","article-title":"COSMIN methodology for evaluating the contentvalidity of patient-reported outcome measures: A Delphi study","volume":"27","author":"Terwee","year":"2018","journal-title":"QualLife Res"},{"key":"10.3233\/JND-221595_ref45","doi-asserted-by":"crossref","first-page":"e1206","DOI":"10.1212\/WNL.0000000000006241","article-title":"Patient Reported Impact of Symptoms in Spinal Muscular Atrophy(PRISM-SMA)","volume":"91","author":"Mongiovi","year":"2018","journal-title":"Neurology"},{"key":"10.3233\/JND-221595_ref52","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1007\/BF02289026","article-title":"A new status index derived from sociometric analysis","volume":"18","author":"Katz","year":"1953","journal-title":"Psychometrika"},{"key":"10.3233\/JND-221595_ref53","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/S0378-8733(01)00038-7","article-title":"Eigenvector-like measures of centrality forasymmetric relations","volume":"23","author":"Bonacich","year":"2001","journal-title":"Social Networks"},{"key":"10.3233\/JND-221595_ref54","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1002\/mus.21350","article-title":"Ananalysis of disease severity based on SMN2 copy number in adultswith spinal muscular atrophy","volume":"40","author":"Elsheikh","year":"2009","journal-title":"Muscle & Nerve"},{"key":"10.3233\/JND-221595_ref55","first-page":"e317","article-title":"Nusinersen Treatment in Adults With SpinalMuscular Atrophy","volume":"11","author":"Duong","year":"2021","journal-title":"Neurology: Clinical Practice"},{"key":"10.3233\/JND-221595_ref56","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1002\/mus.23904","article-title":"SMA valiant trial: A prospective, double-blind, placebo-controlledtrial of valproic acid in ambulatory adults with spinal muscularatrophy","volume":"49","author":"Kissel","year":"2014","journal-title":"Muscle Nerve"},{"key":"10.3233\/JND-221595_ref58","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1111\/sms.13896","article-title":"Are adequate PROMs used as outcomes in randomized controlledtrials? an analysis of 54 trials","volume":"31","author":"Hansen","year":"2021","journal-title":"Scandinavian Journal of Medicine& Science in Sports"},{"key":"10.3233\/JND-221595_ref59","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1002\/mus.27223","article-title":"The Spinal Muscular Atrophy Health Index: A novel outcome formeasuring how a patient feels and functions","volume":"63","author":"Zizzi","year":"2021","journal-title":"Muscle & Nerve"},{"key":"10.3233\/JND-221595_ref60","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1016\/j.nmd.2007.02.013","article-title":"ACTIVLIM:A Rasch-built measure of activity limitations in children and adultswith neuromuscular disorders","volume":"17","author":"Vandervelde","year":"2007","journal-title":"Neuromuscular Disorders"},{"key":"10.3233\/JND-221595_ref61","first-page":"59","article-title":"Development of the SMA independencescale\u2013upper limb module (SMAIS\u2013ULM): A novel scale forindividuals with Type 2 and non-ambulant Type 3 SMA","volume":"432","author":"Trundell","year":"1200","journal-title":"Journal of theNeurological Sciences."},{"key":"10.3233\/JND-221595_ref62","doi-asserted-by":"crossref","first-page":"812063","DOI":"10.3389\/fneur.2021.812063","article-title":"Assessment of Health-Related Quality of Life in AdultSpinal Muscular Atrophy Under Nusinersen Treatment\u2014 A PilotStudy","volume":"12","author":"Thimm","year":"2022","journal-title":"Front Neurol."},{"key":"10.3233\/JND-221595_ref63","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1067\/mem.2003.22","article-title":"Cognitive forcing strategies in clinicaldecisionmaking","volume":"41","author":"Croskerry","year":"2003","journal-title":"Annals of Emergency Medicine"}],"container-title":["Journal of Neuromuscular Diseases"],"original-title":[],"link":[{"URL":"https:\/\/content.iospress.com\/download?id=10.3233\/JND-221595","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T23:52:21Z","timestamp":1777506741000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/full\/10.3233\/JND-221595"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,7]]},"references-count":47,"journal-issue":{"issue":"2"},"URL":"https:\/\/doi.org\/10.3233\/jnd-221595","relation":{},"ISSN":["2214-3599","2214-3602"],"issn-type":[{"value":"2214-3599","type":"print"},{"value":"2214-3602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,7]]}}}