Abstract
This study investigates the relationship between objective cognitive impairment (OCI), subjective cognitive complaints and depressive symptoms in men and women with classical and non-classical Fabry disease (FD). Cognitive functioning was assessed using a neuropsychological test battery, subjective cognitive complaints using a structured interview and depressive symptoms using a depression scale (CESD). Eighty-one patients were included (mean age 44.5 ± 14.3, 35% men, 74% classical). Subjective cognitive complaints were reported by 64% of all patients. OCI was present in thirteen patients (16%), predominantly in men with classical FD. Thirty-one patients (38%) had a high score (≥16) on the CESD scale. Male sex (OR, 6.8; 95%CI, 1.6–39.8; p = 1.6 * 10−2) and stroke (OR, 6.4; 95% CI, 1.1–41.0; p = 3.7 * 10−2) were independently positively associated with OCI, and premorbid IQ (one IQ point increase: OR, 0.91; 95%CI, 0.82–0.98; p = 3.8 * 10−2) was independently negatively associated with OCI. The CESD-score (one point increase: OR, 1.07; 95% CI, 1.02–1.13; p = 3.3 * 10−3) and a history of depression (OR, 2.7; 95% CI, 1.1–7.3; p = 3.9 * 10−2) were independently positively associated with subjective cognitive complaints. OCI is present in 16% of FD patients, warranting referral for neuropsychological assessment. Nevertheless, subjective cognitive complaints are related to depressive symptoms, emphasizing the importance of recognition and treatment of the latter.
Highlights
Frequent cerebral manifestations of Fabry disease (FD) are the occurrence of white matter lesions (WMLs), TIA and stroke
The objective of this study was to investigate the prevalence of objective cognitive impairment (OCI), subjective cognitive complaints, depressive symptoms and to explore their risk factors and interrelation in patients with FD in general as well as in subgroups defined by sex and FD phenotype
OCI was present in 41% of men with classical disease, affecting mostly the executive functioning domain
Summary
Frequent cerebral manifestations of FD are the occurrence of white matter lesions (WMLs), TIA and stroke. WMLs, stroke and depression in itself are known to result in objective cognitive impairment (OCI) in the general population[4]. Previous studies on OCI in FD were limited by small sample size, often did not incorporate neuroimaging, combined WMLs and stroke as a single entity and did not differentiate between patient groups with different FD phenotypes and sex[3,5,6,7]. Subjective cognitive complaints are frequently mentioned by FD patients during their routine clinic visits and were related to depressive symptoms but not to OCI in a recent study in a FD population[7]. The objective of this study was to investigate the prevalence of OCI, subjective cognitive complaints, depressive symptoms and to explore their risk factors and interrelation in patients with FD in general as well as in subgroups defined by sex and FD phenotype
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