{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T15:25:00Z","timestamp":1785252300567,"version":"3.55.0"},"reference-count":26,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2021,8,12]],"date-time":"2021-08-12T00:00:00Z","timestamp":1628726400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder that results in progressive muscle atrophy and weakness. As new therapies for SMA have been developed, newborn screening for SMA can lead to early diagnosis and treatment. The objective of this study was to gather the general population\u2019s view on screening of SMA in newborns in Japan. A questionnaire survey was conducted on two general population groups in Japan. A total of 269 valid responses were obtained. In the general population, about half of the participants had no knowledge about SMA, and more than 90% did not know about new therapies for SMA. Conversely, more than 95% of the general population agreed with screening newborns for SMA because they believed that early diagnosis was important, and treatments were available. This study revealed that the general population in Japan mostly agreed with screening for SMA in newborns even though they did not know much about SMA. Newborn screening for SMA is promising, but it is in very early stages. Therefore, SMA newborn screening should be performed with sufficient preparation and consideration in order to have a positive impact on SMA patients and their families.<\/jats:p>","DOI":"10.3390\/children8080694","type":"journal-article","created":{"date-parts":[[2021,8,12]],"date-time":"2021-08-12T10:54:41Z","timestamp":1628765681000},"page":"694","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Views of the General Population on Newborn Screening for Spinal Muscular Atrophy in Japan"],"prefix":"10.3390","volume":"8","author":[{"given":"Tomoko","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya 663-8501, Hyogo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sachi","family":"Tokunaga","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya 663-8501, Hyogo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoko","family":"Taniguchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya 663-8501, Hyogo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuro","family":"Fujino","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya 663-8501, Hyogo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Midori","family":"Saito","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya 663-8501, Hyogo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideki","family":"Shimomura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya 663-8501, Hyogo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuhiro","family":"Takeshima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya 663-8501, Hyogo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,8,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1186\/s13023-017-0671-8","article-title":"Prevalence, Incidence and Carrier Frequency of 5q-Linked Spinal Muscular Atrophy-a Literature Review","volume":"12","author":"Verhaart","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1007\/s00415-002-0811-4","article-title":"Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: Three SMN2 copies fail to rescue some patients from the disease severity","volume":"249","author":"Harada","year":"2002","journal-title":"J. Neurol."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Ojala, K.S., Reedich, E.J., DiDonato, C.J., and Meriney, S.D. (2021). In search of a cure: The development of therapeutics to alter the progression of spinal muscular atrophy. Brain Sci., 11.","DOI":"10.3390\/brainsci11020194"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/S0960-8966(06)80015-5","article-title":"International SMA consortium meeting (26\u201328 June 1992, Bonn, Germany)","volume":"2","author":"Munsat","year":"1992","journal-title":"Neuromuscul. Disord."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/j.jpeds.2012.05.067","article-title":"Pathophysiologocal insights derived by natural history and motor function of spinal muscular atrophy","volume":"162","author":"Farrar","year":"2013","journal-title":"J Pediatr."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1002\/mus.24497","article-title":"Spinal muscular atrophy: Diagnosis and management in a new therapeutic era","volume":"51","author":"Arnold","year":"2015","journal-title":"Muscle Nerve"},{"key":"ref_8","unstructured":"(2021, June 20). SMA News Today. Zolgensma. Available online: https:\/\/smanewstoday.com\/zolgensma\/."},{"key":"ref_9","unstructured":"(2021, June 20). SMA News Today.Evrysdi (Risdiplam). Available online: https:\/\/smanewstoday.com\/evrysdi-risdiplam\/."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.nmd.2017.11.005","article-title":"Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care","volume":"28","author":"Mercuri","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.nmd.2017.11.004","article-title":"Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics","volume":"28","author":"Finkel","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","article-title":"Nusinersen versus sham control in infantile-onset spinal muscular atrophy","volume":"377","author":"Finkel","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","article-title":"Single-dose gene-replacement therapy for spinal muscular atrophy","volume":"377","author":"Mendell","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1016\/j.nmd.2019.09.007","article-title":"Nusinersen was initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study","volume":"29","author":"Bertini","year":"2019","journal-title":"Neuromuscul. Disord."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1002\/ana.25101","article-title":"Natural history of infantile-inset spinal muscular atrophy","volume":"82","author":"Kolb","year":"2017","journal-title":"Ann. Neurol."},{"key":"ref_16","first-page":"39","article-title":"Advances in newborn screening and presymptomatic diagnosis of spinal muscular atrophy","volume":"10","year":"2020","journal-title":"Degener. Neurol. Neuromuscul. Dis."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.jpeds.2017.06.042","article-title":"Presymptomatic diagnosis of spinal muscular atrophy through newborn screening","volume":"190","author":"Chien","year":"2017","journal-title":"J. Pediatr."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1038\/gim.2017.152","article-title":"Pilot study of population-based newborn screening for spinal muscular atrophy in New York state","volume":"20","author":"Kraszewski","year":"2018","journal-title":"Genet. Med."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"503","DOI":"10.3233\/JND-190428","article-title":"One year of newborn screening for SMA\u2013results of a German pilot project","volume":"6","author":"Vill","year":"2019","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1038\/s41436-019-0673-0","article-title":"Implementation of newborn screening for spinal muscular atrophy: Australian experience","volume":"22","author":"Kariyawasam","year":"2020","journal-title":"Genet. Med."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Shinohara, M., Niba, E.T.E., Wijaya, Y.O.S., Takayama, I., Mitsuishi, C., Kumasaka, S., Kondo, Y., Takatera, A., Hokuto, I., and Morioka, I. (2019). A novel system for spinal muscular atrophy screening in newborns: A Japanese pilot study. Int. J. Neonat. Screen., 5.","DOI":"10.3390\/ijns5040041"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1002\/mgg3.353","article-title":"Newborn genetic screening for spinal muscular atrophy in the UK: Views of the general population","volume":"6","author":"Boardman","year":"2018","journal-title":"J. Mol. Genet. Genomic Med."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.pediatrneurol.2016.09.008","article-title":"Willingness to pay for a newborn screening test for spinal muscular atrophy","volume":"66","author":"Lin","year":"2017","journal-title":"Pediatr. Neurol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"145","DOI":"10.3233\/JND-180304","article-title":"Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn Sscreening","volume":"5","author":"Glascock","year":"2018","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"97","DOI":"10.3233\/JND-190468","article-title":"Revised recommendations for the treatment of infants diagnosed with spinal muscular atrophy via newborn screening who have 4 copies of SMN2","volume":"7","author":"Glascock","year":"2020","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"109","DOI":"10.3233\/JND-200475","article-title":"Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening-Opportunity or Burden?","volume":"7","author":"Vill","year":"2020","journal-title":"J. Neuromuscul. 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