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首页> 外文期刊>American journal of medical genetics, Part A >Interrater reliability of a phenotypic assessment tool for the ear morphology in microtia
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Interrater reliability of a phenotypic assessment tool for the ear morphology in microtia

机译:表型评估工具对小耳症患者耳朵形态的信度评估

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摘要

The Elements of Morphology Standard Terminology working group published standardized definitions for external ear morphology. The primary objective of our study was to use these descriptions to evaluate the interrater reliability for specific features associated with microtia. We invited six raters from three different subspecialities to rate 100 ear photographs on 32 features. We calculated overall and within specialty and professional experience intraclass correlation coefficients (ICC) and 95% confidence intervals. A total of 600 possible observations were recorded for each feature. The overall interrater reliability ranged from 0.04 (95% CI: 0.00-0.14) for the width of the antihelix inferior crus to 0.93 (95% CI: 0.91-0.95) for the presence of the inferior crux of the antihelix. The reliability for quantitative characteristics such as length or width of an ear structure was generally lower than the reliability for qualitative characteristics (e.g., presence or absence of an ear structure). Categories with very poor interrater reliability included anti-helix inferior crux width (0.04, 95% CI: 0.00-0.14), crux helix extension (0.17, 95% CI 0.00-0.37), and shape of the incisura (0.14, 95% CI: 0.01-0.27). There were no significant differences in reliability estimates by specialty or professional experience for most variables. Our study showed that it is feasible to systematically characterize many of structures of the ear that are affected in microtia. We incorporated these descriptions into a standardized phenotypic assessment tool (PAT-Microtia) that might be used in multicenter research studies to identify sub-phenotypes for future studies of microtia.
机译:形态学要素标准术语工作组发布了外耳形态学的标准化定义。我们研究的主要目的是使用这些描述来评估与小眼症相关的特定特征的间质可靠性。我们邀请了来自三个不同专业的六个评估者,对32个特征的100张耳朵照片进行了评估。我们计算了整体以及专业和专业经验类别内相关系数(ICC)和95%的置信区间。每个特征总共记录了600个可能的观察结果。对于反螺旋下硬壳的宽度,整体界面可靠性的范围从0.04(95%CI:0.00-0.14)到存在反螺旋下硬壳的0.93(95%CI:0.91-0.95)。诸如耳朵结构的长度或宽度之类的定量特性的可靠性通常低于诸如耳朵结构的定性特性(例如,是否存在耳朵结构)的可靠性。坡道间可靠性极差的类别包括抗螺旋下硬皮宽度(0.04,95%CI:0.00-0.14),硬鳞螺旋延伸量(0.17,95%CI 0.00-0.37)和切牙形状(0.14,95%CI) :0.01-0.27)。对于大多数变量,根据专业或专业经验进行的可靠性估算没有显着差异。我们的研究表明,系统地表征许多受小耳症影响的耳朵结构是可行的。我们将这些描述整合到标准化的表型评估工具(PAT-Microtia)中,该工具可用于多中心研究中,以识别亚表型,以用于未来的小耳病研究。

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