Predictors of objective cognitive impairment and subjective cognitive complaints in patients with Fabry disease

Körver, Simon; Geurtsen, Gert J.; Hollak, Carla E. M.; Schaik, Ivo N. van; Longo, Maria Gabriela Figueiró; Lima, Marjana Reis; Vedolin, Leonardo; Dijkgraaf, Marcel G. W.; Langeveld, Mirjam

doi:10.1038/s41598-018-37320-0

Cited by 14 publications

(58 citation statements)

References 44 publications

(53 reference statements)

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“…This study used the baseline data of a prospective cohort study assessing cognition in a cohort of FD patients at the Amsterdam University Medical Centre (Amsterdam UMC, location Academic Medical Centre [AMC]). The neuropsychological data were previously described in relation to predictors of OCI . All adult FD patients (≥18 years) known at the AMC (n = 154), the national referral center for FD, were screened for eligibility.…”

Section: Methodsmentioning

confidence: 99%

“…Ten patients were excluded according to preset criteria (Figure S1). Patients were phenotypically classified as classical or nonclassical in accordance with previously published criteria . The study was approved by the Human Research Ethics Committee of the AMC.…”

Section: Methodsmentioning

confidence: 99%

“…Neuropsychological functioning was assessed across the following five domains: language, memory, visuospatial perception, processing speed, and executive functioning. Raw test scores were converted to normative T‐scores (mean = 50, SD = 10, corrected for age, education, and sex where possible) using extensive normative data (median sample size = 471, range 121‐1000) . Language skills were assessed using the 30‐item short form of the Boston Naming Test (BNT) and the Wechsler Adult Intelligence Scale IV: Similarities (WAIS‐IV: Sim) .…”

Section: Methodsmentioning

confidence: 99%

“…Several studies have shown a relation between FD and objective cognitive impairment (OCI) . In addition, we recently established that stroke is independently related to OCI in FD …”

Section: Introductionmentioning

confidence: 92%

“…In the general population, these cerebrovascular disorders cause cognitive deficits such as impaired executive functioning and vascular dementia . Several studies have shown a relation between FD and objective cognitive impairment (OCI) . In addition, we recently established that stroke is independently related to OCI in FD …”

Section: Introductionmentioning

confidence: 97%

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

et al. 2019

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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.

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

“…Several studies have shown a relation between FD and objective cognitive impairment (OCI) . In addition, we recently established that stroke is independently related to OCI in FD …”

Section: Introductionmentioning

confidence: 92%

Section: Introductionmentioning

confidence: 97%

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

et al. 2019

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Cognitive functioning and depressive symptoms in Fabry disease: A follow‐up study

Körver

Geurtsen

Hollak

et al. 2020

J of Inher Metab Disea

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Patients with Fabry disease (FD) have a high prevalence of depressive symptoms and can suffer from cognitive impairment, negatively affecting their life. The course of cognitive functioning and depressive symptoms in FD is unknown. The aim of this prospective cohort study was to describe changes in cognitive functioning and depressive symptoms and to identify related variables in patients with FD over 1 year. Assessments were conducted twice, using a neuropsychological test battery and the Centre of Epidemiological Studies Depression scale (CESD). Eighty‐one patients were included of which 76 patients (94%) completed both assessments (age: 44 years, 34% men, 75% classical phenotype). A significant decrease in cognitive functioning was found in four patients (5%), with patients regressing from excellent to average/good. Changes were not related to sex, phenotype, stroke, IQ or CESD scores. CESD scores ≥16 were present in 29 patients (38%) at baseline. Using the reliable change index a decrease in CESD scores was found in six patients (8%). Decreased CESD scores were independently related to employing a positive and problem solving coping style and increased CESD scores to an avoiding and brooding coping style and worsening health perception. We found no major changes in cognitive functioning in patients with FD during 1 year follow‐up making it an unsuitable outcome in FD treatment trials. Considering the high prevalence of persistent depressive symptoms, assessment of depressive symptoms should be part of routine follow‐up. Altering coping styles and health perception may improve psychological well‐being in FD.

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Cognitive dysfunction and white matter hyperintensities in Fabry disease

Murphy

Davagnanam

Chan

et al. 2022

J of Inher Metab Disea

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Fabry disease (FD) is an X-linked lysosomal storage disorder with multi-system involvement including cerebrovascular disease. Patients with FD also have a high risk of ischaemic stroke and TIA. White matter hyperintensities are common, but their clinical impact on cognition remains uncertain. Previous studies have examined the neuropsychological profile of FD, but have been inconclusive in part due to methodological limitations including small sample sizes. We sought to address these limitations in a case-control study of 26 patients with Fabry disease with mild to moderate disease symptoms matched with 18 healthy controls for age and premorbid intellectual level. We obtained detailed neuropsychological data and MRI neuroimaging data on the severity of white matter changes. Mood was accounted for as a possible confounder. Our results showed significant compromise of executive functions and information processing speed for the FD group. Error analyses suggested that the compromise of executive functions could not be entirely accounted for by slowed information processing speed. We demonstrated significant correlations between cognitive decline and the overall volume of white matter hyperintensities in the FD group. Our results point to significant compromise of cognition in FD even without stroke or mood difficulties. This suggests that neuropsychological assessment and rehabilitation should be routinely offered to patients with FD.

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Predictors of objective cognitive impairment and subjective cognitive complaints in patients with Fabry disease

Cited by 14 publications

References 44 publications

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

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

Cognitive functioning and depressive symptoms in Fabry disease: A follow‐up study

Cognitive dysfunction and white matter hyperintensities in Fabry disease

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