{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T03:43:49Z","timestamp":1784778229086,"version":"3.55.0"},"reference-count":35,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T00:00:00Z","timestamp":1692576000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100005614","name":"Biogen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005614","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction\/Aims<\/jats:title><jats:p>Novel disease\u2010modifying approaches for spinal muscular atrophy (SMA) have highlighted the patient's perspective on functional changes over time. In this study, we evaluated the impact of nusinersen on the health\u2010related quality of life (HRQoL) of patients with later\u2010onset SMA and the caregiver burden.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We assessed the changes in HRQoL using the Pediatric Quality of Life Inventory 4.0 Generic Core Scale (PedsQL GCS) and the Pediatric Quality of Life Inventory 3.0 Neuromuscular Module (PedsQL NMM) during 26\u2009months of treatment. Caregiver burden was assessed using the Assessment of Caregiver Experience with Neuromuscular Disease. We also assessed motor function using the Hammersmith Functional Motor Scale\u2014Expanded (HFMSE) and the Revised Upper Limb Module score.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty\u2010four patients and their caregivers were included. The median age of patients at treatment onset was 148.8 (6.8 to 269.4) months. A significant improvement was observed in psychosocial health in proxy\u2010reported PedsQL (<jats:italic>P<\/jats:italic>\u2009=\u2009.023). However, the physical health scores of the PedsQL GCS and About my neuromuscular disorder subscores of the PedsQL NMM did not change, although there was a significant increase in HFMSE scores. Regarding the caregiver burden, the financial burden was reduced, whereas time burden increased. A higher HFMSE score was associated with better self\u2010reported PedsQL GCS total scores (<jats:italic>P<\/jats:italic>\u2009&lt;\u2009.001).<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>Our results provide insights into the multifaceted implications of disease\u2010modifying therapies for SMA through patient\u2010reported outcome measures (PROMs). PROMs should be taken into consideration to assess the clinical significance of the functional changes identified by clinician\u2010reported scales.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.27950","type":"journal-article","created":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T02:15:21Z","timestamp":1692670521000},"page":"404-413","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Impact of nusinersen on the health\u2010related quality of life and caregiver burden of patients with spinal muscular atrophy with symptom onset after age 6\u2009months"],"prefix":"10.1002","volume":"68","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3472-5336","authenticated-orcid":false,"given":"Yun Jeong","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Kyungpook National University Hospital and School of Medicine Kyungpook National University  Daegu South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ae Ryoung","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Medicine, Kyungpook National University Hospital and School of Medicine Kyungpook National University  Daegu South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2918-6166","authenticated-orcid":false,"given":"Jong\u2010Mok","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Neurology, Kyungpook National University Hospital and School of Medicine Kyungpook National University  Daegu South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Young Kyu","family":"Shim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Korea University Ansan Hospital  Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jae So","family":"Cho","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital Seoul National University College of Medicine  Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hye Won","family":"Ryu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital Seoul National University College of Medicine  Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soonhak","family":"Kwon","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kyungpook National University Children's Hospital, School of Medicine Kyungpook National University  Daegu South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jong\u2010Hee","family":"Chae","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital Seoul National University College of Medicine  Seoul South Korea"},{"name":"Department of Genomic Medicine Seoul National University Hospital  Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,8,21]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01701-y"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.626787"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0424-0"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.09.009"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000009715"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1710504"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1702752"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1021\/acs.jmedchem.8b00741"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1706198"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2019.09.007"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.4103\/aian.AIAN_524_20"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26769"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2020-324532"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002445"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2007.05.009"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.02.014"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005650-199902000-00003"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25164"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/BPO.0b013e31820fc522"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1213\/ANE.0000000000002864"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2019.03.004"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2022.07.205"},{"key":"e_1_2_12_24_1","first-page":"1429","article-title":"Evaluation of nusinersen on impact of caregiver experience and HRQOL in later\u2010onset spinal muscular atrophy (SMA): results from the phase 3 CHERISH trial","volume":"94","author":"Johnson NB","year":"2020","journal-title":"Neuromuscul Disord."},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2020.08.268"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.2147\/PPA.S305849"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.812063"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27116"},{"key":"e_1_2_12_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.01.012"},{"key":"e_1_2_12_30_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318271f7e4"},{"key":"e_1_2_12_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2010.07.003"},{"key":"e_1_2_12_32_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000006241"},{"key":"e_1_2_12_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2019.10.001"},{"key":"e_1_2_12_34_1","first-page":"604","article-title":"Quality of life outcomes according to differential nusinersen exposure in pediatric spinal muscular 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