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

## TL;DR

This study tracks the development of scoliosis in children with 22q11.2 deletion syndrome, starting before symptoms appear, to better understand its progression.

## Contribution

The study is the first to track scoliosis initiation and progression in 22q11.2DS patients from before disease onset.

## Key findings

- 40% of 22q11.2DS patients developed a scoliosis curve ≥10°, with higher rates in girls than boys.
- 49% of patients under age 10 already showed scoliosis signs, but only a small subset progressed to severe deformity.
- Longitudinal data can help identify risk factors to distinguish stable from progressive scoliosis cases.

## Abstract

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.

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.

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.

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.