Spine Deform. 2025 Oct 5. doi: 10.1007/s43390-025-01193-x. Online ahead of print.
ABSTRACT
PURPOSE: 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.
METHODS: 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 > 30°, curve angle fluctuation and treatment.
RESULTS: 722 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.
CONCLUSION: 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.
PMID:41046496 | DOI:10.1007/s43390-025-01193-x
