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Cognitive function in adults aging with fabry disease: a case-control feasibility study using telephone-based
Virginia G Wadley1, Leslie A McClure, David G Warnock
1Division of Gerontology, Geriatrics and Palliative Care, Department of Medicine, University of Alabama at Birmingham, CH19 218T, 1720 2nd Ave. So., Birmingham, AL, 35294-2041, USA, vwadley@uab.edu.
JIMD Reports
|January 9, 2015
Summary
Recruiting US adults with Fabry disease (FD) for telephone cognitive tests is feasible. While some specific cognitive skills were lower, overall cognitive function in older FD patients matched controls, influenced by quality of life.
Area of Science:
- Neurology
- Genetics
- Psychology
Background:
- Fabry disease (FD) is a rare genetic disorder.
- Cognitive function in older adults with FD requires further investigation.
- Assessing cognition in geographically dispersed populations presents challenges.
Purpose of the Study:
- To assess the feasibility of telephone-based cognitive assessments in US adults with FD.
- To compare cognitive functioning between FD patients and matched controls.
- To explore the influence of comorbidities and quality of life on cognition in FD.
Main Methods:
- A case-control study recruited 54 US adults (≥45 years) with FD and 216 matched controls.
- Cognitive function, quality of life (QOL), and medical histories were assessed via telephone.
- Standardized cognitive tests were administered, with normalized scores and a cognitive composite calculated.
Main Results:
- Telephone assessments were feasible for recruiting US adults with FD.
- FD participants showed lower scores in list recall and semantic fluency.
- Overall cognitive composite scores did not significantly differ between FD cases and controls, especially after adjusting for QOL and mental health.
Conclusions:
- Telephone-based cognitive assessments are a viable method for studying FD in large, dispersed populations.
- While specific cognitive deficits exist in FD, overall cognitive function in older adults is comparable to controls.
- Quality of life and mental health significantly impact cognitive performance in individuals with Fabry disease.
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