{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T09:31:23Z","timestamp":1793266283232,"version":"4.5.0"},"reference-count":40,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T00:00:00Z","timestamp":1776988800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T00:00:00Z","timestamp":1776988800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"Roche France SAS"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2026,11]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Despite advancements in spinal muscular atrophy (SMA) management, evaluating outcomes in adults remains difficult. Standard motor scales often show floor\/ceiling effects and fail to capture patient-relevant constructs. This creates a disconnect between clinical measurements and the lived experience of adults with SMA, particularly in regulatory contexts requiring demonstrable benefit. This qualitative study explored the evaluation priorities, expectations, and preferences of adults with SMA and the corresponding assessment challenges faced by healthcare practitioners (HCPs).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>Semi-structured interviews with 18 adults with SMA (types 1b-3) and 31 multidisciplinary HCPs from 14 specialized French centers were conducted. Data were analyzed using reflexive thematic analysis and triangulation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Adults with SMA found standard assessments burdensome, fatiguing, and lack relevance. Their primary goal was maintaining an\n                      <jats:italic toggle=\"yes\">acceptable life balance<\/jats:italic>\n                      , a dynamic equilibrium between their disease state and an adapted environment. This balance hinged on preserving specific\n                      <jats:italic toggle=\"yes\">keystone abilities<\/jats:italic>\n                      (e.g., joystick control, independent transfers), which are highly individualized and critical for social participation. Patients prioritized the assessment of these specific abilities. HCPs corroborated the limitations of standard tools (insensitivity, confounding factors) and logistical constraints. In response, HCPs have developed numerous \u201chome-made,\u201d non-validated assessments and used personalized tools to capture meaningful changes, especially in severely affected patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion:<\/jats:title>\n                    <jats:p>A discrepancy exists between current standardized SMA assessments and patients priorities. It highlights a need for outcome measures that align with patients\u2019 priorities, particularly \u201ckeystone abilities.\u201d HCPs\u2019 innovative approaches offer a promising direction for future assessment development, advocating for a shift towards individualized, holistic evaluation in SMA care.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/22143602251413326","type":"journal-article","created":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T14:41:34Z","timestamp":1777041694000},"page":"1372-1392","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["A qualitative study of the discrepancy between patient expectations and assessment practices in 5q-adult spinal muscular atrophy in France"],"prefix":"10.1177","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-0482-6493","authenticated-orcid":false,"given":"Guillaume","family":"Montagu","sequence":"first","affiliation":[{"name":"Unknowns SAS, Social Science Research, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1035-9108","authenticated-orcid":false,"given":"Fran\u00e7ois-Constant","family":"Boyer","sequence":"additional","affiliation":[{"name":"CHU de Reims"},{"name":"EA 3797, D\u00e9partement de Sant\u00e9 Publique, Universit\u00e9 de Reims Champagne-Ardenne, Reims, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcela","family":"Gargiulo","sequence":"additional","affiliation":[{"name":"H\u00f4pital de la Piti\u00e9-Salp\u00eatri\u00e8re, APHP"},{"name":"Laboratoire de Psychologie clinique, Psychopathologie et Psychanalyse (EA 4056) Universit\u00e9 Paris Descartes - Sorbonne Paris Cit\u00e9, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel","family":"Pouplin","sequence":"additional","affiliation":[{"name":"H\u00f4pital Raymond-Poincar\u00e9, APHP Paris"},{"name":"Universit\u00e9 Versailles Saint Quentin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aur\u00e9lie","family":"Barri\u00e8re","sequence":"additional","affiliation":[{"name":"CHU Lyon - L\u2019Escale, H\u00f4pital Femme M\u00e8re Enfant"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edouard","family":"Berling","sequence":"additional","affiliation":[{"name":"H\u00f4pital Raymond-Poincar\u00e9, APHP Paris"},{"name":"FHU PHENIX, Garches, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Bonnyaud","sequence":"additional","affiliation":[{"name":"H\u00f4pital Raymond-Poincar\u00e9, APHP Paris"},{"name":"Universit\u00e9 Versailles Saint Quentin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Cintas","sequence":"additional","affiliation":[{"name":"H\u00f4pital Pierre-Paul Riquet, CHU de Toulouse"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Yves","family":"Hogrel","sequence":"additional","affiliation":[{"name":"H\u00f4pital de la Piti\u00e9-Salp\u00eatri\u00e8re, APHP"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucie","family":"Le Goff","sequence":"additional","affiliation":[{"name":"CHU Nantes"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brice","family":"Marchadier","sequence":"additional","affiliation":[{"name":"Roche SAS, Medical Affairs, Boulogne-Billancourt, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghislain","family":"N\u2019Dah Sekou","sequence":"additional","affiliation":[{"name":"H\u00f4pital Raymond-Poincar\u00e9, APHP Paris"},{"name":"FHU PHENIX, Garches, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Orlikowski","sequence":"additional","affiliation":[{"name":"FHU PHENIX, Garches, France"},{"name":"H\u00f4pital Raymond-Poincar\u00e9"},{"name":"H\u00f4pital Raymond-Poincar\u00e9"},{"name":"UFR Simone Veil, Universit\u00e9 Paris-Saclay, Montigny-le-Bretonneux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Prigent","sequence":"additional","affiliation":[{"name":"FHU PHENIX, Garches, France"},{"name":"UFR Simone Veil, Universit\u00e9 Paris-Saclay, Montigny-le-Bretonneux, France"},{"name":"H\u00f4pital Raymond-Poincar\u00e9"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Pruvot","sequence":"additional","affiliation":[{"name":"Roche SAS, Medical Affairs, Boulogne-Billancourt, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Ropars","sequence":"additional","affiliation":[{"name":"CHU de Brest"},{"name":"LaTIM INSERM UMR 1101, CHU de Brest, Brest, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Salort-Campana","sequence":"additional","affiliation":[{"name":"H\u00f4pital de la Timone, APHM"},{"name":"Marseille Medical Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Stojkovic","sequence":"additional","affiliation":[{"name":"H\u00f4pital de la Piti\u00e9-Salp\u00eatri\u00e8re, APHP"},{"name":"Centre de r\u00e9f\u00e9rence des maladies neuromusculaires, H\u00f4pital de la Piti\u00e9-Salp\u00eatri\u00e8re, AP-HP, Paris, France"},{"name":"UMRS974, Sorbonne Universit\u00e9 - INSERM, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Nicolas","sequence":"additional","affiliation":[{"name":"H\u00f4pital Raymond-Poincar\u00e9, APHP Paris"},{"name":"FHU PHENIX, Garches, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharam","family":"Attarian","sequence":"additional","affiliation":[{"name":"H\u00f4pital de la Timone, APHM"},{"name":"Marseille Medical Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Lafor\u00eat","sequence":"additional","affiliation":[{"name":"H\u00f4pital Raymond-Poincar\u00e9, APHP Paris"},{"name":"FHU PHENIX, Garches, France"},{"name":"U1179 INSERM, Universit\u00e9 Versailles-Saint-Quentin-en-Yvelines, Paris-Saclay, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,4,24]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(90)91803-I"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.11.005"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2022.04.003"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2020-323822"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2023.03.011"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000010540"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.650535"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2021.120059"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27223"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25598"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.3233\/JND-221595"},{"key":"e_1_3_3_13_2","unstructured":"International Classification of Functioning disability and health: ICF World Health Organization 2001. https:\/\/icd.who.int\/browse\/2025-01\/icf\/en"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.2340\/jrm.v55.6498"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1177\/000841749005700207"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-017-0853-y"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.13237"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.so.12.080186.000435"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1177\/0146167211432762"},{"key":"e_1_3_3_20_2","unstructured":"Transparency Commission Haute Autorit\u00e9 de Sant\u00e9 2018 https:\/\/www.has-sante.fr\/upload\/docs\/evamed\/CT-16362_SPINRAZA_PIC_INS_Avis3_CT16362.pdf."},{"key":"e_1_3_3_21_2","unstructured":"Transparency Commission Haute Autorit\u00e9 de Sant\u00e9 2021 https:\/\/www.has-sante.fr\/jcms\/p_3289078\/fr\/evrysdi-risdiplam."},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-023-03008-6"},{"key":"e_1_3_3_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jval.2015.08.006"},{"key":"e_1_3_3_24_2","doi-asserted-by":"publisher","DOI":"10.1097\/ACM.0000000000000388"},{"key":"e_1_3_3_25_2","unstructured":"Cohen D Crabtree B. Guidelines for designing analyzing and reporting qualitative research. Qualitative Research Guidelines Project Robert Wood Johnson Foundation. 2006. http:\/\/qualres.org\/HomeGuid-3868.html. Accessed October 27 2025."},{"key":"e_1_3_3_26_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-319-69909-7_3470-2"},{"key":"e_1_3_3_27_2","doi-asserted-by":"publisher","DOI":"10.1097\/PHM.0000000000001869"},{"key":"e_1_3_3_28_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26419"},{"key":"e_1_3_3_29_2","doi-asserted-by":"publisher","DOI":"10.3233\/JND-160168"},{"key":"e_1_3_3_30_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01701-y"},{"key":"e_1_3_3_31_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2008.03248.x"},{"key":"e_1_3_3_32_2","doi-asserted-by":"publisher","DOI":"10.3233\/JND-200534"},{"key":"e_1_3_3_33_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2021.10.010"},{"key":"e_1_3_3_34_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0201004"},{"key":"e_1_3_3_35_2","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51281"},{"key":"e_1_3_3_36_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijerph19042003"},{"key":"e_1_3_3_37_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.rehab.2021.101552"},{"key":"e_1_3_3_38_2","first-page":"31","article-title":"Response shift theory: an application for health-related quality of life in rehabilitation research and practice","volume":"40","author":"Howard JS","year":"2011","unstructured":"Howard JS, Mattacola CG, Howell DM, et al. Response shift theory: an application for health-related quality of life in rehabilitation research and practice. J Allied Health 2011; 40: 31\u201338.","journal-title":"J Allied Health"},{"key":"e_1_3_3_39_2","unstructured":"Methodology of Reference 004 - MR- 004 - CNIL. Accessed October 27 2025. https:\/\/www.cnil.fr\/fr\/declaration\/methodologie-de-reference-04-recherches-nimpliquant-pas-la-personne-humaine-etudes-et-evaluations-dans-le-domaine-de-la-sante."},{"key":"e_1_3_3_40_2","unstructured":"Article R1121-1 - Code de la sant\u00e9 publique - L\u00e9gifrance. Accessed October 27 2025. https:\/\/www.legifrance.gouv.fr\/codes\/section_lc\/LEGITEXT000006072665\/LEGISCTA000006160948."},{"key":"e_1_3_3_41_2","unstructured":"Article L1121-1 - Code de la sant\u00e9 publique - L\u00e9gifrance. Accessed October 27 2025. https:\/\/www.legifrance.gouv.fr\/codes\/article_lc\/LEGIARTI000032722870\/."}],"container-title":["Journal of Neuromuscular Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/22143602251413326","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/22143602251413326","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/22143602251413326","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T08:31:29Z","timestamp":1793262689000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/22143602251413326"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,24]]},"references-count":40,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,11]]}},"alternative-id":["10.1177\/22143602251413326"],"URL":"https:\/\/doi.org\/10.1177\/22143602251413326","relation":{},"ISSN":["2214-3599","2214-3602"],"issn-type":[{"value":"2214-3599","type":"print"},{"value":"2214-3602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,24]]}}}