Körver Simon, van de Schraaf Sara A J, Geurtsen Gert J, Hollak Carla E M, van Schaik Ivo N, Langeveld Mirjam
Department of Endocrinology and Metabolism Amsterdam UMC, Location AMC, University of Amsterdam Amsterdam The Netherlands.
Department of Medical Psychology Amsterdam UMC, Location AMC, University of Amsterdam Amsterdam The Netherlands.
JIMD Rep. 2019 May 20;48(1):53-59. doi: 10.1002/jmd2.12036. eCollection 2019 Jul.
Fabry disease (FD) patients may suffer from objective cognitive impairment (OCI). This study assessed the accuracy of the Mini Mental State Examination (MMSE) to screen for OCI in FD patients. Presence or absence of OCI was established using a neuropsychological test battery. For different MMSE cutoffs sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and clinical utility index (CUI) to identify OCI were calculated. Eighty-one patients were included (mean age 44.5 ± 14.3, 35% men, 74% classical phenotype) of which 13 patients (16%) had OCI. The median MMSE score was 29 (range: 25-30). MMSE cutoffs ≤28 and ≤29 had the highest sensitivity and specificity, with higher specificity reached at cutoff ≤28 (sensitivity: .46, specificity: .73) and higher sensitivity at cutoff ≤29 (sensitivity: .92, specificity: .40). PPV was low for both cutoffs (PPV ≤28: .25, PPV ≤29: .23) resulting in a low positive CUI (case finding ability). The results of our study indicate that the MMSE does not accurately screen for OCI in FD, with poor sensitivity-specificity trade-off at all cutoffs. The low PPV shows that the majority of FD patients that score below the cutoffs do not suffer from OCI. Administering the MMSE as a screening test will lead to unnecessary referrals for neuropsychological testing, which is time consuming and burdensome. Screening tools designed to accurately detect mild (executive) impairment might prove more appropriate to screen for OCI in FD.
法布里病（FD）患者可能患有客观认知障碍（OCI）。本研究评估了简易精神状态检查表（MMSE）筛查FD患者OCI的准确性。通过一套神经心理测试来确定是否存在OCI。针对不同的MMSE临界值，计算了用于识别OCI的敏感性、特异性、阳性预测值（PPV）、阴性预测值（NPV）和临床效用指数（CUI）。纳入了81名患者（平均年龄44.5±14.3岁，35%为男性，74%为经典型），其中13名患者（16%）患有OCI。MMSE评分中位数为29分（范围：25 - 30分）。MMSE临界值≤28分和≤29分具有最高的敏感性和特异性，临界值≤28分时特异性更高（敏感性：0.46，特异性：0.73），临界值≤29分时敏感性更高（敏感性：0.92，特异性：0.40）。两个临界值的PPV均较低（PPV≤28分：0.25，PPV≤29分：0.23），导致阳性CUI较低（病例发现能力）。我们的研究结果表明，MMSE不能准确筛查FD患者的OCI，在所有临界值下敏感性和特异性的权衡都很差。低PPV表明，大多数MMSE评分低于临界值的FD患者并未患有OCI。将MMSE作为筛查测试会导致不必要的神经心理测试转诊，这既耗时又繁琐。旨在准确检测轻度（执行功能）障碍的筛查工具可能更适合用于筛查FD患者的OCI。
