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Cognitive and psychological functioning in Fabry disease.

Linda Sigmundsdottir1, Michel C Tchan2, Alex A Knopman3

  • 1Department of Psychology, Macquarie University, Sydney, Australia lsigmundsdottir@med.usyd.edu.au.

Archives of Clinical Neuropsychology : the Official Journal of the National Academy of Neuropsychologists
|October 17, 2014
PubMed
Summary
This summary is machine-generated.

Fabry disease impairs cognitive function, particularly in males, affecting information processing and executive functions. This neurocognitive impact correlates with disease severity, highlighting the need for comprehensive patient care.

Keywords:
AnxietyCognitionDepressionFabry diseaseNeuropsychologyPsychology

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Area of Science:

  • Neuroscience
  • Genetics
  • Internal Medicine

Background:

  • Fabry disease is an X-linked lysosomal storage disorder with significant renal, cardiac, and cerebrovascular complications.
  • Patients with Fabry disease face an elevated risk of stroke, with neuroimaging confirming cerebrovascular pathology.

Purpose of the Study:

  • To profile the cognitive abilities of individuals with Fabry disease.
  • To investigate how pain, age, and organ-specific functioning (renal, cardiac, cerebrovascular) influence cognition and psychological well-being in Fabry patients.

Main Methods:

  • A cohort of 17 Fabry disease patients (12 males, age 25-60) and 15 age-matched healthy controls underwent a comprehensive neuropsychological assessment.
  • Cognitive performance, anxiety, and depression symptoms were evaluated.

Main Results:

  • Fabry males exhibited slower information processing and deficits in executive functions, including verbal fluency, reasoning, and problem-solving.
  • Males with Fabry disease were more prone to clinically significant cognitive reductions and reported higher rates of anxiety and depression.
  • Fabry females' cognitive performance was comparable to that of healthy controls.
  • Correlations were found between cognitive measures and clinical indicators of disease severity.

Conclusions:

  • Cognitive impairment, especially in information processing speed and executive functions, is a notable feature in males with Fabry disease.
  • The findings suggest a link between Fabry disease's clinical manifestations and neurocognitive deficits, underscoring the importance of assessing cognitive health.
  • Further research is warranted to explore the impact of Fabry disease on cognitive and psychological functioning across diverse patient populations.