Dasari Vijaya R, Shapiro Steven M, Yeh Hung-Wen, Gelineau-Morel Rose
University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.
Department of Neurology, University of Kansas School of Medicine, Kansas City, MO, USA.
Pediatr Res. 2022 Mar;91(4):862-866. doi: 10.1038/s41390-021-01755-5. Epub 2021 Nov 5.
Kernicterus Spectrum Disorders (KSDs) result from hyperbilirubinemia-induced brain injury. We developed a Toolkit (KSD-TK) to predict the likelihood of KSDs. This study aims to validate the KSD-TK by comparing it to clinical diagnoses made by the Kernicterus Clinic in the Division of Neurology.
Through retrospective chart review, we completed a KSD-TK for 37 patients evaluated between 2011 and 2019 using highest bilirubin, newborn risk factors, neonatal exam, follow-up exam, auditory testing, tooth enamel, and MRI brain results. KSD-TK results were compared to the clinical diagnoses given by a kernicterus expert (SS).
Of 37 patients, 29 were clinically diagnosed with kernicterus, including 14/14 with KSD-TK scored as "definite", 14/15 "probable", and 1/2 with "possible" kernicterus. None of 6 patients with KSD-TK "not kernicterus" were clinically diagnosed with kernicterus. Combining KSD-TK "definite" and "probable", the KSD-TK has 96.6% sensitivity and 87.5% specificity. Each KSD-TK component had high sensitivity, but only three had specificity ≥0.75: auditory neuropathy spectrum disorder, abnormal movements and/or tone on follow-up exam, and abnormal globus pallidus and/or subthalamic nucleus on MRI.
The KSD-TK is a promising screening tool for patients at risk for kernicterus.
This study provides validation of a Kernicterus Spectrum Disorders (KSDs) Toolkit. The toolkit provides screening criteria for predicting KSD diagnosis. Scores of definite or probable have high sensitivity and specificity for KSDs. Abnormal auditory processing, exam, and MRI were most specific for KSDs.
核黄疸谱系障碍（KSDs）由高胆红素血症引起的脑损伤所致。我们开发了一个工具包（KSD-TK）来预测KSDs的可能性。本研究旨在通过将KSD-TK与神经科核黄疸诊所做出的临床诊断进行比较，对其进行验证。
通过回顾性病历审查，我们使用最高胆红素水平、新生儿危险因素、新生儿检查、随访检查、听力测试、牙釉质和脑部MRI结果，为2011年至2019年间评估的37例患者完成了KSD-TK。将KSD-TK结果与核黄疸专家（SS）给出的临床诊断进行比较。
37例患者中，29例临床诊断为核黄疸，其中KSD-TK评分为 “确定” 的有14/14例，“可能” 的有14/15例，“可能” 核黄疸的有1/2例。KSD-TK为 “非核黄疸” 的6例患者中，无一例临床诊断为核黄疸。将KSD-TK的 “确定” 和 “可能” 合并，KSD-TK的敏感性为96.6%，特异性为87.5%。KSD-TK的每个组成部分都有较高的敏感性，但只有三个组成部分的特异性≥0.75：听觉神经病谱系障碍、随访检查时的异常运动和/或肌张力，以及MRI上苍白球和/或丘脑底核异常。
KSD-TK是一种有前景的针对核黄疸风险患者的筛查工具。
本研究对核黄疸谱系障碍（KSDs）工具包进行了验证。该工具包提供了预测KSD诊断的筛查标准。“确定” 或 “可能” 的评分对KSDs具有高敏感性和特异性。异常的听觉处理、检查和MRI对KSDs最具特异性。
