{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T10:54:25Z","timestamp":1781088865563,"version":"3.54.1"},"reference-count":32,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2024,2,27]],"date-time":"2024-02-27T00:00:00Z","timestamp":1708992000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,2,27]],"date-time":"2024-02-27T00:00:00Z","timestamp":1708992000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2024,4,30]]},"abstract":"<jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Spinal muscular atrophy (SMA) is a neuromuscular disorder characterised by progressive motor function decline. Motor function is assessed using several functional outcome measures including the Revised Hammersmith Scale (RHS).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>In this study, we present longitudinal trajectories for the RHS in an international cohort of 149 untreated paediatric SMA 2 and 3 patients (across 531 assessments collected between March 2015 and July 2019).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>We contextualise these trajectories using both the Hammersmith Functional Motor Scale Expanded (HFMSE) and Revised Upper Limb Module (RULM). At baseline, this cohort included 50% females and 15% of patients had undergone spinal fusion surgery. Patient trajectories were modelled using a natural cubic spline with age, sex, and random effects for each patient.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>RHS and HFMSE scores show similar trends over time in this cohort not receiving disease modifying therapies. The results confirm the strong correlation between the RHS and RULM previously observed in SMA types 2 and 3a. Scoliosis surgery is associated with a reduction of 3 points in the RHS, 4.5 points in the HFMSE for the SMA 2 population, and a reduction of 11.8 points in the RHS, and 13.4 points in the HFMSE for the SMA 3a populations. When comparing the RHS and RULM, there is a lower correlation in the type 3a\u2019s than the type 2 patients. In the SMA 2 population, there is no significant difference between the sexes in either the RHS or HFMSE trajectories. There is no significant difference in the RULM trajectory in the SMA 2 or 3a participants by sex.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>This study demonstrates that the RHS could be used in conjunction with other functional measures such as the RULM to holistically detect SMA disease progression. This will assist with fully understanding changes that occur with treatments, further defining trajectories and therapy outcomes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/jnd-230211","type":"journal-article","created":{"date-parts":[[2024,2,27]],"date-time":"2024-02-27T10:59:27Z","timestamp":1709031567000},"page":"665-677","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":13,"title":["Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3"],"prefix":"10.1177","volume":"11","author":[{"given":"Amy","family":"Wolfe","sequence":"first","affiliation":[{"name":"UCL Great Ormond Street Institute of Child Health","place":["UK"]},{"name":"Evelina London Children\u2019s Hospital, Guys and St Thomas\u2019 NHS Foundation Trust, London, UK"},{"name":"National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgia","family":"Stimpson","sequence":"additional","affiliation":[{"name":"UCL Great Ormond Street Institute of Child Health","place":["UK"]},{"name":"National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"Ramsey","sequence":"additional","affiliation":[{"name":"University of Suffolk","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgia","family":"Coratti","sequence":"additional","affiliation":[{"name":"Catholic University","place":["Italy"]},{"name":"Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally","family":"Dunaway Young","sequence":"additional","affiliation":[{"name":"Stanford University","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Mayhew","sequence":"additional","affiliation":[{"name":"Newcastle University","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marika","family":"Pane","sequence":"additional","affiliation":[{"name":"Catholic University","place":["Italy"]},{"name":"Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annemarie","family":"Rohwer","sequence":"additional","affiliation":[{"name":"UCL Great Ormond Street Institute of Child Health","place":["UK"]},{"name":"National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Muni Lofra","sequence":"additional","affiliation":[{"name":"Newcastle University","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tina","family":"Duong","sequence":"additional","affiliation":[{"name":"Stanford University","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emer","family":"O\u2019Reilly","sequence":"additional","affiliation":[{"name":"UCL Great Ormond Street Institute of Child Health","place":["UK"]},{"name":"National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evelin","family":"Milev","sequence":"additional","affiliation":[{"name":"UCL Great Ormond Street Institute of Child Health","place":["UK"]},{"name":"National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Civitello","sequence":"additional","affiliation":[{"name":"St. Jude Children\u2019s Research Hospital","place":["USA"]},{"name":"Nemours Children\u2019s Hospital and University of Central Florida College of Medicine","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria A.","family":"Sansone","sequence":"additional","affiliation":[{"name":"University of Milan","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adele","family":"D\u2019Amico","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Messina","sequence":"additional","affiliation":[{"name":"University of Messina","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Bruno","sequence":"additional","affiliation":[{"name":"IRCCS Istituto Giannina Gaslini and University of Genoa","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilio","family":"Albamonte","sequence":"additional","affiliation":[{"name":"University of Milan","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Mazzone","sequence":"additional","affiliation":[{"name":"Catholic University","place":["Italy"]},{"name":"Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Main","sequence":"additional","affiliation":[{"name":"UCL Great Ormond Street Institute of Child Health","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline","family":"Montes","sequence":"additional","affiliation":[{"name":"Columbia University Irving Medical Center","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allan M.","family":"Glanzman","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Philadelphia, Philadelphia, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zarazuela","family":"Zolkipli-Cunningham","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Philadelphia, Philadelphia, USA"},{"name":"University of Pennsylvania","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Pasternak","sequence":"additional","affiliation":[{"name":"Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Marini-Bettolo","sequence":"additional","affiliation":[{"name":"Newcastle University","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John W.","family":"Day","sequence":"additional","affiliation":[{"name":"Stanford University","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Basil T.","family":"Darras","sequence":"additional","affiliation":[{"name":"Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darryl C.","family":"De Vivo","sequence":"additional","affiliation":[{"name":"Columbia University Irving Medical Center","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Baranello","sequence":"additional","affiliation":[{"name":"UCL Great Ormond Street Institute of Child Health","place":["UK"]},{"name":"National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariacristina","family":"Scoto","sequence":"additional","affiliation":[{"name":"UCL Great Ormond Street Institute of Child Health","place":["UK"]},{"name":"National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard S.","family":"Finkel","sequence":"additional","affiliation":[{"name":"St. Jude Children\u2019s Research Hospital","place":["USA"]},{"name":"Nemours Children\u2019s Hospital and University of Central Florida College of Medicine","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugenio","family":"Mercuri","sequence":"additional","affiliation":[{"name":"Catholic University","place":["Italy"]},{"name":"Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[{"name":"UCL Great Ormond Street Institute of Child Health","place":["UK"]},{"name":"National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"on behalf of the international SMA consortium (iSMAc)","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,2,27]]},"reference":[{"key":"e_1_3_6_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21832"},{"key":"e_1_3_6_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-017-8549-1"},{"key":"e_1_3_6_4_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2010.373"},{"key":"e_1_3_6_5_2","doi-asserted-by":"publisher","DOI":"10.3390\/jcm12103458"},{"key":"e_1_3_6_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-008-0929-0"},{"key":"e_1_3_6_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51514"},{"key":"e_1_3_6_8_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000007527"},{"key":"e_1_3_6_9_2","first-page":"1","article-title":"Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)","author":"Oskoui M","year":"2023","unstructured":"OskouiM, DayJW, DeconinckN, MazzoneES, NascimentoA, SaitoK, VuillerotC, BaranelloG, GoemansN, KirschnerJ, Kostera-PruszczykA Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA). Journal of Neurology. 20231\u201316.","journal-title":"Journal of Neurology"},{"key":"e_1_3_6_10_2","doi-asserted-by":"crossref","unstructured":"MercuriE BarisicN Boespflug-TanguyO DeconinckN Kostera-PruszczykA MassonR MazzoneE NascimentoA SaitoK VlodavetsD VuillerotCSUNFISH Part 2: Efficacy and safety of risdiplam (RG7916) in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)(1260) 2020.","DOI":"10.1212\/WNL.94.15_supplement.1260"},{"key":"e_1_3_6_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/s40265-020-01410-z"},{"key":"e_1_3_6_12_2","unstructured":"FDA Center for Biologics Evaluation and Research. (2019). Zolgensma FDA approval.http:\/\/www.fda.gov\/ForIndustry\/DataStandards\/StructuredProductLabeling\/."},{"key":"e_1_3_6_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/s40263-018-0545-1"},{"key":"e_1_3_6_14_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0172346"},{"key":"e_1_3_6_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2007.05.009"},{"key":"e_1_3_6_16_2","doi-asserted-by":"publisher","DOI":"10.3390\/jcm12051920"},{"key":"e_1_3_6_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25430"},{"key":"e_1_3_6_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.10.009"},{"key":"e_1_3_6_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27384"},{"key":"e_1_3_6_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2019.08.014"},{"key":"e_1_3_6_21_2","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807305788"},{"key":"e_1_3_6_22_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0278996"},{"key":"e_1_3_6_23_2","doi-asserted-by":"publisher","DOI":"10.3233\/JND-180301"},{"key":"e_1_3_6_24_2","doi-asserted-by":"publisher","DOI":"10.1177\/0883073811420294"},{"key":"e_1_3_6_25_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318271f7e4"},{"key":"e_1_3_6_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.02.014"},{"key":"e_1_3_6_27_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23937"},{"key":"e_1_3_6_28_2","doi-asserted-by":"publisher","DOI":"10.1111\/ene.14472"},{"key":"e_1_3_6_29_2","doi-asserted-by":"publisher","DOI":"10.1111\/ene.14780"},{"key":"e_1_3_6_30_2","doi-asserted-by":"publisher","DOI":"10.3233\/JND-190462"},{"key":"e_1_3_6_31_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-02015-9"},{"issue":"4","key":"e_1_3_6_32_2","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1002\/mus.20018","article-title":"Motor function\u2013muscle strength relationship in spinal muscular atrophy","volume":"29","author":"Merlini L","year":"2004","unstructured":"MerliniL, BertiniE, MinettiC, MonginiT, MorandiL, AngeliniC, VitaG Motor function\u2013muscle strength relationship in spinal muscular atrophy. Muscle & Nerve: Official Journal of the American Association of Electrodiagnostic Medicine. 2004;29(4):548\u201352.","journal-title":"Muscle & Nerve: Official Journal of the American Association of Electrodiagnostic Medicine"},{"key":"e_1_3_6_33_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(96)00284-5"}],"container-title":["Journal of Neuromuscular Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/JND-230211","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.3233\/JND-230211","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/JND-230211","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T23:52:40Z","timestamp":1777506760000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.3233\/JND-230211"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,27]]},"references-count":32,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,4,30]]}},"alternative-id":["10.3233\/JND-230211"],"URL":"https:\/\/doi.org\/10.3233\/jnd-230211","relation":{},"ISSN":["2214-3599","2214-3602"],"issn-type":[{"value":"2214-3599","type":"print"},{"value":"2214-3602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2,27]]}}}