The burden of Wilson's disease: Insights into clinical, psychological, and functional dimensions
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View abstract on PubMed
Summary
This summary is machine-generated.Functional disability in Wilson's disease (WD) is linked to disease severity, cognitive issues, and depression. Early intervention focusing on mental and cognitive health is crucial for managing WD patients.
Area Of Science
- Neuroscience
- Genetics
- Metabolic Disorders
Background
- Wilson's disease (WD) is a rare genetic disorder affecting copper metabolism, leading to multi-systemic issues.
- Despite treatment, patients with WD often face significant functional impairment.
- The interplay between clinical presentation, mental state, and disability in WD is not well understood.
Purpose Of The Study
- To examine the correlations between WD severity, cognitive function, depressive symptoms, and functional disability.
- To utilize validated assessment tools for a comprehensive evaluation of WD patients.
Main Methods
- A prospective, single-center, cross-sectional study involving 32 adult WD patients.
- Assessment using the WHODAS 2.0, GAS-WD, Mini-MoCA, and PHQ-9 validated instruments.
- Analysis of associations between clinical factors and scale scores using non-parametric tests.
Main Results
- The WHODAS 2.0 participation domain showed the most impairment.
- Higher disability scores correlated with increased disease severity (GAS-WD) and depressive symptoms (PHQ-9), and decreased cognitive performance (Mini-MoCA).
- No significant associations were found between diagnostic delay and disability, nor between gender/clinical subtype and participation.
Conclusions
- Functional disability in WD is significantly associated with disease severity, cognitive deficits, and depressive symptoms.
- The WHODAS 2.0 is a practical tool for assessing functional status in WD.
- Multidisciplinary care addressing cognitive and mental health is vital for WD management.
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