{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T23:32:49Z","timestamp":1779924769791,"version":"3.53.1"},"reference-count":51,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2023,6,2]],"date-time":"2023-06-02T00:00:00Z","timestamp":1685664000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Vappu Uusp\u00e4\u00e4n s\u00e4\u00e4ti\u00f6"},{"name":"Finnish Pediatric Research Foundation"},{"name":"Turku University research"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Spinal muscular atrophy (SMA) is a rare genetic disorder, with the most common form being 5q SMA. Survival of children with severe SMA is poor, yet major advances have been made in recent years in pharmaceutical treatment, such as gene-therapy, which has improved patient survival. Therefore, clinical problems, such as the development of spinal deformities in these genetically treated SMA children represent an unknown challenge in clinical work. In a retrospective case series, the development of spinal deformities was analyzed in 16 SMA children (9 male, 7 female) treated with onasemnogene abeparvovec in two institutions during the years 2020 to 2022. Ten out of sixteen patients had a significant kyphosis, and nine out of sixteen patients had significant scoliosis, with the mean curvature angles of 24 \u00b1 27\u00b0 for scoliosis, and 69 \u00b1 15\u00b0 for kyphosis. Based on these preliminary data, it can be assumed that early-onset kyphosis presents a clinical challenge in gene-therapy-treated SMA children. Larger datasets with longer follow-up times need to be collected in order to verify these preliminary observations.<\/jats:p>","DOI":"10.3390\/children10060998","type":"journal-article","created":{"date-parts":[[2023,6,2]],"date-time":"2023-06-02T02:41:35Z","timestamp":1685673695000},"page":"998","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Early Development of Spinal Deformities in Children Severely Affected with Spinal Muscular Atrophy after Gene Therapy with Onasemnogene Abeparvovec\u2014Preliminary Results"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7660-3076","authenticated-orcid":false,"given":"Venla","family":"Soini","sequence":"first","affiliation":[{"name":"Paediatric Orthopaedics, Department of Trauma, Orthopaedic and Plastic Surgery, University Medical Center G\u00f6ttingen, 37075 G\u00f6ttingen, Germany"},{"name":"Department of Paediatric Surgery and Paediatric Orthopaedic Surgery, University of Turku and Turku University Hospital, FI-20520 Turku, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-2871-0360","authenticated-orcid":false,"given":"Gudrun","family":"Schreiber","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Social Pediatric Center, Medical Center Kassel, 34127 Kassel, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd","family":"Wilken","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Social Pediatric Center, Medical Center Kassel, 34127 Kassel, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6655-7130","authenticated-orcid":false,"given":"Anna Kathrin","family":"Hell","sequence":"additional","affiliation":[{"name":"Paediatric Orthopaedics, Department of Trauma, Orthopaedic and Plastic Surgery, University Medical Center G\u00f6ttingen, 37075 G\u00f6ttingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,6,2]]},"reference":[{"key":"ref_1","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_2","doi-asserted-by":"crossref","first-page":"1927","DOI":"10.1093\/hmg\/4.10.1927","article-title":"Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: Evidence of homozygous deletions of the SMN gene in unaffected individuals","volume":"4","author":"Hahnen","year":"1995","journal-title":"Hum. 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