Evidence map›Paper›PMID 41046496›Full record

ArticleSpine deformity2026

Natural history study of scoliosis in patients with 22q11.2 deletion syndrome, starting before disease onset.

P P G Lafranca, S de Reuver, A Abdi, M L Houben, M C Kruyt, K Ito, R M Castelein, T P C Schlösser

Abstract read
In one paragraph

Article in Spine deformity, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

P P G LafrancaDepartment of Orthopedic Surgery, University Medical Center Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands.ORCID http://orcid.org/0000-0002-6612-1986
S de ReuverDepartment of Orthopedic Surgery, University Medical Center Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands.ORCID http://orcid.org/0000-0001-7319-8327
A AbdiDepartment of Orthopedic Surgery, University Medical Center Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands.ORCID http://orcid.org/0009-0002-8770-5611
M L HoubenDepartment of Pediatrics, University Medical Center Utrecht, P.O. Box 85090, 3508 AB, Utrecht, The Netherlands.ORCID http://orcid.org/0009-0003-0097-0496
M C KruytDepartment of Orthopedic Surgery, University Medical Center Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands.ORCID http://orcid.org/0000-0002-5983-5251
K ItoDepartment of Orthopedic Surgery, University Medical Center Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands.ORCID http://orcid.org/0000-0002-7372-4072
R M CasteleinDepartment of Orthopedic Surgery, University Medical Center Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands.ORCID http://orcid.org/0000-0002-6182-0315
T P C SchlösserDepartment of Orthopedic Surgery, University Medical Center Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands. t.p.c.schlosser@umcutrecht.nl.ORCID http://orcid.org/0000-0003-1517-5914

Funding

H2020 European Research Council 101020004
6 · The paper itself

Abstract

purposeTo 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.

methods22q11.2DS 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 > 30°, curve angle fluctuation and treatment.

results722 full-spine standing radiographs of 292 patients were included. 116 (40%) of the patients developed a curve ≥ 10°, 44% of girls and 36% of boys. Thirteen (4%) progressed to a curve > 30° 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 ≥ 10° at first visit. More fluctuation compared to a predicted trend line was seen in future scoliosis patients.

conclusionIt 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.

Indexed as

DiGeorge SyndromeScoliosisAdolescentAdultAge of OnsetChildDisease ProgressionFemaleHumansLongitudinal StudiesMaleRadiographySpineYoung Adult22q11.2 Deletion SyndromeLongitudinalNatural historyProgression rateScoliosis

Identifiers

PMID41046496
PMCPMC12816084

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.