Cognitive and Psychological Functioning in Fabry Disease

Sigmundsdottir, Linda; Tchan, Michel; Knopman, Alex A.; Menzies, Graham; Batchelor, Jennifer; Sillence, David

doi:10.1093/arclin/acu047

Cited by 31 publications

(53 citation statements)

References 30 publications

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“…Of note, we could not confirm the previously observed relation [8] between a history of stroke and depressive symptoms, nor was there a relation between WMLs and depressive symptoms. This further strengthens the hypothesis that brain abnormalities are not the main cause of depressive symptoms in patients with FD [3,5].…”

Section: Discussioncontrasting

confidence: 99%

“…It has been hypothesized that the cerebral pathology in FD might be a biological substrate for depressive symptoms [3,6,7]. Interestingly, while most studies failed to establish a relation between organ involvement and depressive symptoms [5,8], FD patients' perception of their health was strongly related to depressive symptom severity [4,9]. This relationship is not unique for FD and has been shown in other diseases as well [10].…”

Section: Introductionmentioning

confidence: 96%

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Depressive symptoms in Fabry disease: the importance of coping, subjective health perception and pain

Körver

Geurtsen

Hollak

et al. 2020

Orphanet J Rare Dis

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Background: Despite the high prevalence of depressive symptoms in Fabry disease (FD), it is unclear which patient characteristics are important in relation to these symptoms. Additionally, the impact of coping styles in relation to depressive symptoms in FD has been unexplored. Determining the impact of different factors relating to depressive symptoms in FD can guide both prevention and treatment of these symptoms. Methods: Depressive symptoms (Center for Epidemiologic Studies Depression scale (CESD)) and coping styles (Utrecht Coping List) were assessed in a Dutch FD cohort. Other potentially important variables were identified from FD literature and assessed in this cohort. Relations were evaluated using multiple linear models. Results: Potentially important variables in FD literature were: pain, unemployment, health perception, being single, comorbidities and stroke. Employed coping styles were "avoidance and brooding", "positivity and problem solving" and "seeking social support". Thirty-one of the 81 FD patients (38%) had depressive symptoms. CESD-scores were lower in patients with better health perception and more "positivity and problem solving" and higher in patients with more pain and "avoidance and brooding". The best model explained 70% (95%CI: 54-76%) of observed variance of the CESD. Conclusions: Depressive symptoms in FD are related to pain, negative health perception and use of specific coping styles. Psychological interventions could be employed to alter coping behavior and alleviate depressive symptoms.

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Section: Discussioncontrasting

confidence: 99%

Section: Introductionmentioning

confidence: 96%

Depressive symptoms in Fabry disease: the importance of coping, subjective health perception and pain

Körver

Geurtsen

Hollak

et al. 2020

Orphanet J Rare Dis

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“…The assessment of cognitive function in FD patients so far mostly revealed mild and unprogressive symptoms [4, 6, 7]. The lack of genotype differences in learning behavior of our FD mouse model is therefore in line with findings in Fabry patients.…”

Section: Discussionsupporting

confidence: 83%

Affective and cognitive behavior in the alpha-galactosidase A deficient mouse model of Fabry disease

et al. 2017

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Fabry disease is an X-linked inherited lysosomal storage disorder with intracellular accumulation of globotriaosylceramide (Gb3) due to α-galactosidase A (α-Gal A) deficiency. Fabry patients frequently report of anxiety, depression, and impaired cognitive function. We characterized affective and cognitive phenotype of male mice with α-Gal A deficiency (Fabry KO) and compared results with those of age-matched male wildtype (WT) littermates. Young (3 months) and old (≥ 18 months) mice were tested in the naïve state and after i.pl. injection of complete Freund`s adjuvant (CFA) as an inflammatory pain model. We used the elevated plus maze (EPM), the light-dark box (LDB) and the open field test (OF) to investigate anxiety-like behavior. The forced swim test (FST) and Morris water maze (MWM) were applied to assess depressive-like and learning behavior. The EPM test revealed no intergroup difference for anxiety-like behavior in naïve young and old Fabry KO mice compared to WT littermates, except for longer time spent in open arms of the EPM for young WT mice compared to young Fabry KO mice (p<0.05). After CFA injection, young Fabry KO mice showed increased anxiety-like behavior compared to young WT littermates (p<0.05) and naïve young Fabry KO mice (p<0.05) in the EPM as reflected by shorter time spent in EPM open arms. There were no relevant differences in the LDB and the OF test, except for longer time spent in the center zone of the OF by young WT mice compared to young Fabry KO mice (p<0.05). Complementary to this, depression-like and learning behavior were not different between genotypes and age-groups, except for the expectedly lower memory performance in older age-groups compared to young mice. Our results indicate that genetic influences on affective and cognitive symptoms in FD may be of subordinate relevance, drawing attention to potential influences of environmental and epigenetic factors.

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“…Löhle et al (2015) found that antidepressants were more frequent among FD subjects than controls. Finally, FD does not follow gender norms, with males reporting greater depression than females (Cole et al 2007;Sigmundsdottier et al 2014).…”

Section: Introductionmentioning

confidence: 91%

Treatment of Depression in Adults with Fabry Disease

2017

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Fabry disease (FD) is a genetic X-linked, multisystemic, progressive lysosomal storage disorder (LSD). Depression has emerged as a disease complication, with prevalence estimates ranging from 15 to 62%. This is a pilot study examining the effects of psychological counseling for depression in FD on depression, adaptive functioning (AF), quality of life (QOL), and subjective pain experience. Telecounseling was also piloted, as it has beneficial effects in other chronic diseases which make in-person counseling problematic. Subjects completed 6 months of in-person or telecounseling with the same health psychologist, followed by 6 months without counseling. Self-report measures of depression, AF, QOL, and subjective pain were completed every 3 months. All subjects experienced improvements in depression, which were sustained during the follow-up period. Improvements in depression were correlated with improvements in mental health QOL and subjective pain severity, while improvements in mental health QOL were correlated with improvements in AF. While statistical comparison between counseling modes was not possible with the given sample size, relevant observations were noted. Recommendations for future research include replication of results with a larger sample size and a longer counseling period. The use of video counseling may be beneficial. In conclusion, the present pilot study supports the efficacy of psychological treatment for depression in people with FD, highlighting the importance of having health psychologists housed in LSD treatment centers, rather than specialty psychology/psychiatry settings, to increase participation and decrease potential obstacles to access due to perceived stigma.

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Cognitive and Psychological Functioning in Fabry Disease

Cited by 31 publications

References 30 publications

Depressive symptoms in Fabry disease: the importance of coping, subjective health perception and pain

Depressive symptoms in Fabry disease: the importance of coping, subjective health perception and pain

Affective and cognitive behavior in the alpha-galactosidase A deficient mouse model of Fabry disease

Treatment of Depression in Adults with Fabry Disease

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