BACKGROUND Scoliosis is a deformation of the spine and trunk that, in its more severe forms, creates a life-long burden of disease and requires intensive treatment. For its most prevalent form, adolescent idiopathic scoliosis, no underlying condition can be defined, and the pathomechanism appears to be multifactorial; however, it has been suggested that the biomechanics of the spine play a role. For nonidiopathic scoliosis, underlying conditions can be recognized, but what drives the deformity remains unclear. In this study, we examined the early sagittal shape of the spine before the onset of scoliosis in a population with 22q11.2 deletion syndrome (22q11.2DS). This cohort was chosen since children with this syndrome have an approximately 50% chance of developing scoliosis that shares certain characteristics with idiopathic scoliosis, namely, age of onset, curve morphology, and rate of progression. METHODS This prospective cohort study included patients with 22q11.2DS who were followed with the use of spinal radiographs during adolescent growth. All of the children, who initially had no scoliosis while still skeletally immature (Risser stages 0 and 1), were followed at 2-year intervals until they reached skeletal maturity (Risser stages 3 to 5). We assessed the segment of the spine that has previously been shown to be rotationally unstable, the posteriorly inclined segment, to determine if it was predictive of later scoliosis development. For quantification, the area of the "posteriorly inclined triangle" (PIT), a previously described parameter that integrates both the inclination and length of the at-risk segment, was measured. RESULTS Of the 50 children who initially had no scoliosis (mean age at inclusion, 10.7 ± 1.7 years; mean follow-up, 4.8 ± 1.6 years), 24 (48%) developed scoliosis. Patients with an above-average PIT area (>60 cm2) at inclusion showed a relative risk of 2.55 for scoliosis development (95% confidence interval [CI]:1.22 to 5.34). PIT inclination was correlated with curve type: a taller and steeper hypotenuse predicted later thoracic scoliosis, while a shorter and less steep inclination predicted the development of (thoraco)lumbar scoliosis. CONCLUSIONS This prospective study identified the pre-scoliotic sagittal shape of the spine as a risk factor for the later development of scoliosis in the population of children with 22q11.2DS. LEVEL OF EVIDENCE Prognostic Level II. See Instructions for Authors for a complete description of levels of evidence.

中文翻译：

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脊柱的早期矢状形状可预测综合征 （22q11.2DS） 人群的脊柱侧弯发展：一项前瞻性纵向研究。


背景 脊柱侧弯是脊柱和躯干的变形，在更严重的情况下，会造成终生的疾病负担，需要强化治疗。对于其最普遍的形式，青少年特发性脊柱侧凸，无法定义潜在疾病，发病机制似乎是多因素的;然而，有人认为脊柱的生物力学起着一定的作用。对于非特发性脊柱侧凸，可以识别潜在疾病，但导致畸形的原因仍不清楚。在这项研究中，我们检查了 22q11.2 缺失综合征 （22q11.2DS） 人群脊柱发病前脊柱的早期矢状形状。之所以选择这个队列，是因为患有这种综合征的儿童大约有 50% 的机会发展为脊柱侧弯，该脊柱侧弯与特发性脊柱侧弯具有某些共同特征，即发病年龄、曲线形态和进展速度。方法 这项前瞻性队列研究包括 22q11.2DS 患者，他们在青少年成长过程中接受了脊柱 X 线片的随访。所有最初没有脊柱侧弯但骨骼仍未成熟 （Risser 0 期和 1） 的儿童每隔 2 年接受一次随访，直到他们达到骨骼成熟 （Risser 3 至 5 期）。我们评估了先前显示旋转不稳定的脊柱段，即后倾段，以确定它是否能预测以后脊柱侧弯的发展。为了量化，测量了“后倾斜三角形”（PIT） 的面积，这是一个先前描述的参数，它整合了高危节段的倾斜度和长度。结果 在 50 名最初没有脊柱侧弯的儿童中 （入组时的平均年龄为 10.7 ± 1.7 岁;平均随访率为 4.8 ± 1.6 年），24 例 （48%） 发生脊柱侧弯。入组时 PIT 面积高于平均水平 （>60 cm2） 的患者脊柱侧凸发展的相对风险为 2.55 （95% 置信区间 [CI]： 1.22 至 5.34）。PIT 倾斜度与曲线类型相关：较高和陡峭的斜边预测后期胸椎侧凸，而较短和较不陡峭的倾斜度预测（胸）腰椎侧凸的发展。结论 这项前瞻性研究确定脊柱侧凸前矢状形状是 22q11.2DS 儿童人群后来发生脊柱侧凸的危险因素。证据级别 预后 II 级。有关证据级别的完整描述，请参阅作者说明。