Department of Radiology, Great Ormond Hospital for Children, London, UK.
Am J Med Genet A. 2010 Jun;152A(6):1357-71. doi: 10.1002/ajmg.a.33361.
Existing nomenclature systems for describing and reporting congenital segmentation defects of the vertebrae (SDV) are confusing, inconsistently applied, and lack molecular genetic advances. Our aim was to develop and assess a new classification system for SDV. A multidisciplinary group of the International Consortium for Vertebral Anomalies and Scoliosis (ICVAS) developed a new classification system for SDV, and 5 members group (Group 1) independently classified 10 previously unseen cases using this system. Inter-observer reliability was assessed using kappa, which compares observed agreement with that expected by chance. Seven independent general radiologists unaffiliated with the ICVAS (Group 2) classified the same 10 cases (total, 70 scores) before and after the ICVAS system was explained. We demonstrated the following: Inter-observer reliability for Group 1 yielded a kappa value of 0.21 (95% confidence intervals (CI) 0.052, 0.366, P = 0.0046); A consensus diagnosis was established for the 10 cases. For Group 2, before the ICVAS system was explained, 1 of 70 scores (1.4%) agreed with the Group 1 consensus diagnoses; Group 2 offered 12 different diagnoses, but 38 of 70 (54.3%) responses were "Don't Know." After the ICVAS system was explained, 47 of 70 responses (67.1%; 95% CI 55.5, 77.0) agreed with the Group 1 consensus, an improvement of 65.7% (95% CI 52.5, 75.6, P < 0.00005), with no "Don't Know" responses. Group 2 average reporting times, before and after explanation of the ICVAS system, were 148 and 48 min, respectively. We conclude that the ICVAS radiological classification system was found to be reliable and applicable for 10 SDV phenotypes.
现有的描述和报告先天性脊椎节段发育不良(SDV)的命名法系统令人困惑,应用不一致,缺乏分子遗传学进展。我们的目的是开发和评估一种新的 SDV 分类系统。国际脊柱侧凸与脊椎异常协会(ICVAS)的一个多学科小组为 SDV 开发了一个新的分类系统,5 名小组成员(第 1 组)独立使用该系统对 10 个以前未见过的病例进行分类。使用kappa 评估观察者间的可靠性,kappa 比较观察到的一致性与随机预期的一致性。7 名与 ICVAS 无关的独立普通放射科医生(第 2 组)在解释 ICVAS 系统之前和之后对相同的 10 例(共 70 例)进行了分类。我们证明了以下几点:第 1 组的观察者间可靠性产生的 kappa 值为 0.21(95%置信区间[CI] 0.052,0.366,P = 0.0046);为 10 例病例建立了共识诊断。对于第 2 组,在解释 ICVAS 系统之前,70 个分数中的 1 个(1.4%)与第 1 组的共识诊断一致;第 2 组提供了 12 种不同的诊断,但 70 个中的 38 个(54.3%)回答是“不知道”。在解释了 ICVAS 系统之后,70 个分数中的 47 个(67.1%;95%CI 55.5,77.0)与第 1 组的共识一致,提高了 65.7%(95%CI 52.5,75.6,P <0.00005),没有“不知道”的回答。在解释了 ICVAS 系统之前和之后,第 2 组的平均报告时间分别为 148 分钟和 48 分钟。我们得出结论,ICVAS 放射学分类系统被发现可靠且适用于 10 种 SDV 表型。