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Purpose <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.</p> Methods <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 &gt; 30°, curve angle fluctuation and treatment.</p> Results <p>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 &gt; 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.</p> Conclusion <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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月5日

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

摘要

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.