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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

Insights

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.

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.

Keywords:
AnxietyCognitionDepressionFabry diseaseNeuropsychologyPsychology

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