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

Simon Körver1, Sara A J van de Schraaf2, Gert J Geurtsen2

  • 1Department of Endocrinology and Metabolism Amsterdam UMC, Location AMC, University of Amsterdam Amsterdam The Netherlands.

JIMD Reports
|August 9, 2019
PubMed

Insights

The Mini Mental State Examination (MMSE) is not an accurate tool for screening objective cognitive impairment (OCI) in Fabry disease (FD) patients. Its low positive predictive value leads to unnecessary referrals, suggesting a need for more targeted screening methods.

Area of Science:

  • Neurology
  • Genetics
  • Cognitive Science

Background:

  • Fabry disease (FD) is a rare genetic disorder that can lead to multisystemic complications.
  • Objective cognitive impairment (OCI) is a recognized complication in FD patients, impacting quality of life.
  • Early detection of OCI is crucial for timely intervention and management.

Purpose of the Study:

  • To evaluate the diagnostic accuracy of the Mini Mental State Examination (MMSE) as a screening tool for OCI in FD patients.
  • To determine optimal MMSE cutoffs for identifying OCI in this population.
  • To assess the clinical utility and potential drawbacks of using MMSE for OCI screening in FD.

Main Methods:

  • A cohort of 81 FD patients underwent a comprehensive neuropsychological test battery to establish the presence or absence of OCI.
  • The Mini Mental State Examination (MMSE) was administered to all participants.
  • Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and clinical utility index (CUI) were calculated for various MMSE cutoffs.

Main Results:

  • 16% of the 81 FD patients exhibited OCI.
  • MMSE cutoffs of ≤28 and ≤29 demonstrated the highest sensitivity and specificity.
  • Cutoff ≤28 yielded higher specificity (0.73) but lower sensitivity (0.46), while cutoff ≤29 offered higher sensitivity (0.92) but lower specificity (0.40).
  • Both cutoffs exhibited low positive predictive values (PPV ≤28: 0.25, PPV ≤29: 0.23), indicating frequent false positives.
  • The low PPV and CUI suggest poor case-finding ability of the MMSE in this cohort.

Conclusions:

  • The MMSE demonstrates inadequate accuracy for screening OCI in Fabry disease patients due to a poor sensitivity-specificity trade-off and low positive predictive value.
  • Routine use of the MMSE may result in unnecessary referrals for further neuropsychological testing, causing patient burden and resource inefficiency.
  • Development and validation of screening tools specifically designed to detect mild or executive cognitive deficits are recommended for FD patients.
Keywords:
Fabry diseaseMMSElysosomal storage diseasesmini mental state examinationneurocognitive tests

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