{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T02:19:10Z","timestamp":1790475550147,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,6,8]],"date-time":"2022-06-08T00:00:00Z","timestamp":1654646400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007013","name":"F. Hoffmann-La Roche","doi-asserted-by":"publisher","award":["Co\u2010financing of the NatHis SMA study"],"award-info":[{"award-number":["Co\u2010financing of the NatHis SMA study"]}],"id":[{"id":"10.13039\/100007013","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>To compare the societal financial costs and quality of life (QoL) of untreated patients with spinal muscular atrophy (SMA) and treated patients identified because they presented symptoms or were identified by early testing (sibling or newborn screening).<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Data from two different sources were used: data collected prospectively in untreated patients from 2016 to 2018 and data collected during a prospective follow\u2010up study from 2018 to 2021. Patients or their caregiver completed a questionnaire that included questions on direct medical and non\u2010medical costs, indirect non\u2010medical costs, and health\u2010related QoL.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Data (median; range) were available for 149 patients (93 untreated \u2013 10\u2009years; 2\u2009years\u201359\u2009years), 42 patients (6\u2009years 3\u2009months; 9\u2009months\u201358\u2009years) treated after presenting with symptoms, and 14 patients (1\u2009year 7\u2009months; 5\u2009months\u20132\u2009years) treated after early diagnosis. Total costs were lower in untreated patients due to the high cost of drugs used in treated patients. Costs were lower for treated patients who were identified by early testing than for treated patients identified because they presented with symptoms. In all groups, patients with two <jats:italic>SMN2<\/jats:italic> copies had higher costs than those with more copies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Early patient identification and treatment offer the opportunity to reduce the total societal costs of SMA where treatments are available for presymptomatic and postsymptomatic patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>What this paper adds<\/jats:title><jats:p>\n<jats:list list-type=\"bullet\">\n<jats:list-item><jats:p>Untreated patients with spinal muscular atrophy had lower total financial costs than treated patients.<\/jats:p><\/jats:list-item>\n<jats:list-item><jats:p>Total financial costs were lower for treated patients identified by early screening than for treated patients identified after symptom onset.<\/jats:p><\/jats:list-item>\n<jats:list-item><jats:p>Direct financial costs excluding treatment were much lower in treated patients identified by early screening.<\/jats:p><\/jats:list-item>\n<jats:list-item><jats:p>Hospitalization costs were much lower in patients identified by early screening.<\/jats:p><\/jats:list-item>\n<\/jats:list><\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.15286","type":"journal-article","created":{"date-parts":[[2022,6,8]],"date-time":"2022-06-08T08:02:28Z","timestamp":1654675348000},"page":"67-77","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":54,"title":["Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening"],"prefix":"10.1111","volume":"65","author":[{"given":"Tamara","family":"Dangouloff","sequence":"first","affiliation":[{"name":"Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Paediatrics University Hospital Liege &amp; 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