{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T23:14:04Z","timestamp":1768864444750,"version":"3.49.0"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T00:00:00Z","timestamp":1759622400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T00:00:00Z","timestamp":1759622400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100010663","name":"H2020 European Research Council","doi-asserted-by":"publisher","award":["101020004"],"award-info":[{"award-number":["101020004"]}],"id":[{"id":"10.13039\/100010663","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Spine Deform"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>To date, natural history studies on scoliosis development describe only curve progression but do not include its initiation. Around 50% of children with 22q11.2 Deletion Syndrome (22q11.2DS) develop a scoliosis. Longitudinal data from a large cohort of 22q11.2DS patients is available. This study aims to inventory the natural history of scoliosis development, starting before curve onset, in 22q11.2DS patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>22q11.2DS patients are biennially radiographically screened for scoliosis from age 6 to adulthood. All available radiographs were analyzed. Outcome measures were: skeletal maturity (modified Risser classification), coronal Cobb angles, curve angle fluctuation and treatment (bracing, surgery or no treatment). An evaluation was performed of scoliosis onset, risk of progression to\u2009&gt;\u200930\u00b0, curve angle fluctuation and treatment.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>722 full-spine standing radiographs of 292 patients were included. 116 (40%) of the patients developed a curve\u2009\u2265\u200910\u00b0, 44% of girls and 36% of boys. Thirteen (4%) progressed to a curve\u2009&gt;\u200930\u00b0 and seven (2%) required surgical treatment. In patients with radiographs before age 10, 49% already had a scoliosis. 22% of the patients already had a curve\u2009\u2265\u200910\u00b0 at first visit. More fluctuation compared to a predicted trend line was seen in future scoliosis patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>It appeared that many 22q11.2DS patients already have fluctuating spinal asymmetry before age 10, often without progression, and that only a subset develops a severe progressive deformity. This longitudinal dataset provides the opportunity for future risk-profiling to distinguish between stable versus progressive scoliosis for the 22q11.2DS population.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s43390-025-01193-x","type":"journal-article","created":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T08:46:52Z","timestamp":1759654012000},"page":"227-235","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Natural history study of scoliosis in patients with 22q11.2 deletion syndrome, starting before disease onset"],"prefix":"10.1007","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6612-1986","authenticated-orcid":false,"given":"P. P. 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Ren\u00e9 M. Castelein is editor in chief of Spine Deformity.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interest"}},{"value":"The institutional review board approved the data collection in our 22q11.2DS registry by expedited review.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}}]}}