The Mini Mental State Examination does not accurately screen for objective cognitive impairment in Fabry Disease

Abstract

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.

Serum neurofilament light chain is not a useful biomarker of central nervous system involvement in women with Fabry disease

“…Therefore MoCA should be preferred to MMSE in populations at risk for MCI or with early-stage dementia. In a study conducted by Körver S, et al MoCA questionnaire classified 21% of patients with FD as having MCI, compared with 11% in the reference group (14). These data are consistent with our results.…”

“…The most commonly used screening test in the diagnosis of cognitive impairment is MMSE. Körver S, et al showed that MMSE did not allow screening for MCI in patients with FD and it may lose its predictive value when the cognitive impairment is milder, less prevalent and occurs predominantly in the executive domain, as appears to be the case in FD (14). Our results are consistent with the finding that MMSE cannot accurately distinguish patients with subtle cognitive impairment from patients without clinically detectable cognitive impairment.…”

“…The best validated tests used for screening for cognitive impairment include the Mini Mental State Examination (MMSE) and the Montreal Cognitive Assessment Scale (MoCA) (12,13). MMSE and MoCA were used and well-validated in recent studies assessing cognitive impairment in patients with FD (11,14).…”

The effectiveness of eye tracking in the diagnosis of cognitive disorders: A systematic review and meta-analysis

“…Early diagnosis of CI can contribute to specific clinical classification and prognosis and progression of the disease, as well as to treatment. The mini-mental state examination (MMSE) and Montreal Cognitive Assessment (MOCA) were general screening tools for CI [ 7 , 8 ], these tools have proven to be highly sensitive [ 9 ]. However, both age and education level affect MMSE scores [ 10 ].…”

Social, behavioural, and functional characteristics of community‐dwelling South Korean adults with moderate and severe cognitive impairment

“…Many studies that have investigated the cognitive functioning of older South Korean adults have classified cognitive status using Korean versions of the Mini Mental Status Examination (MMSE; Park & Yoo, 2002). While the MMSE, including its Korean variations, is widely used as a screening tool for cognitive impairment (Mole & Demeyere, 2020), it has been criticized for having poor accuracy in diagnosing mild cognitive impairment and dementia (Körver et al., 2019). A potential solution is to use a combination of cognitive function measured by the K‐MMSE and difficulties in instrumental activities of daily living (IADL; Luttenberger et al., 2012; Mejia‐Arango & Gutierrez, 2011).…”