{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T15:25:01Z","timestamp":1785252301788,"version":"3.55.0"},"reference-count":31,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2022,9,26]],"date-time":"2022-09-26T00:00:00Z","timestamp":1664150400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder. Al-though there was no cure for SMA, newly developed therapeutic drugs (nusinersen, onasemnogene abeparvovec, and risdiplam) have been proven effective for the improvement of motor function and prevention of respiratory insufficiency of infants with SMA. Nusinersen was introduced in Japan in 2017 and onasemnogene abeparvovec in 2020. We hypothesized that the introduction of these drugs might influence the incidence of SMA (more precisely, increase the diagnosis rate of SMA) in Japan. To test this hypothesis, we conducted a second epidemiological study of infantile SMA using questionnaires in Shikoku, Japan between October 2021 and February 2022. The incidence of infantile SMA during the period 2016\u20132020 was 7.08 (95% confidence interval [CI] 2.45\u201311.71) per 100,000 live births. According to our previous epidemiological study, the incidence of infantile SMA during 2011\u20132015 was 2.70 (95% CI 0.05\u20135.35) per 100,000 live births. The increased incidence of infantile SMA suggests that the widespread news in Japan regarding the introduction of therapeutic agents, nusinersen and onasemnogene abeparvovec, raised clinicians\u2019 awareness about SMA, leading to increased and earlier diagnosis of SMA in Shikoku.<\/jats:p>","DOI":"10.3390\/ijns8040052","type":"journal-article","created":{"date-parts":[[2022,9,28]],"date-time":"2022-09-28T01:51:49Z","timestamp":1664329909000},"page":"52","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Changes in the Incidence of Infantile Spinal Muscular Atrophy in Shikoku, Japan between 2011 and 2020"],"prefix":"10.3390","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5677-4222","authenticated-orcid":false,"given":"Kentaro","family":"Okamoto","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Ehime Prefectural Imabari Hospital, 4-5-5 Ishi-cho, Imabari 794-0006, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6778-4511","authenticated-orcid":false,"given":"Hisahide","family":"Nishio","sequence":"additional","affiliation":[{"name":"Department of Occupational Therapy, Faculty of Rehabilitation, Kobe Gakuin University, 518 Arise, Ikawadani-cho, Nishi-ku, Kobe 651-2180, Japan"},{"name":"Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahiro","family":"Motoki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Ehime University Graduate School of Medicine, Shitsukawa, Toon 791-0295, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshihiro","family":"Jogamoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Ehime University Graduate School of Medicine, Shitsukawa, Toon 791-0295, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaori","family":"Aibara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Ehime University Graduate School of Medicine, Shitsukawa, Toon 791-0295, Japan"},{"name":"Department of Pediatrics, Matsuyama Red Cross Hospital, 1 Bunkyo-cho, Matsuyama 790-8524, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoichi","family":"Kondo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Matsuyama Red Cross Hospital, 1 Bunkyo-cho, Matsuyama 790-8524, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kentaro","family":"Kawamura","sequence":"additional","affiliation":[{"name":"Toseikai Healthcare Corporation, Life-Long Care Clinic for Disabled People, 14-3-10 Maeda 4 jo, Teine-ku, Sapporo 006-0814, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9897-5927","authenticated-orcid":false,"given":"Yukihiko","family":"Konishi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, Kagawa University, 1750-1 Ikedo, Miki-cho, Kita 761-0701, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiho","family":"Tokorodani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kochi Health Sciences Center, 2125-1 Ike, Kochi 781-8555, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ritsuo","family":"Nishiuchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kochi Health Sciences Center, 2125-1 Ike, Kochi 781-8555, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariko","family":"Eguchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Ehime University Graduate School of Medicine, Shitsukawa, Toon 791-0295, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,9,26]]},"reference":[{"key":"ref_1","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. 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