The burden of Wilson's disease: Insights into clinical, psychological, and functional dimensions

Wilson's disease (WD) is a rare genetic disorder of copper metabolism with multi-systemic manifestations. Despite available treatment, patients often experience functional impairment. However, the relationship between clinical phenotype, mental status, and disability remains underexplored.

To investigate the associations between disease severity, cognitive performance, depressive symptoms, and functional disability in adults with WD using validated instruments.

In this prospective, single-center cross-sectional study (2021-2023), 32 clinically stable WD patients followed at a tertiary neurology clinic were assessed with the WHODAS 2.0, GAS-WD, Mini-MoCA, and PHQ-9. Functional outcomes were evaluated using WHODAS 2.0 domains. Associations between clinical variables and scale scores were analyzed using non-parametric tests. Ethical approval (ref: 183-DEFI/165-CE) and informed consent were obtained.

Participants had a mean age of 39.8±13.6 years; 56.3% were female. Median diagnostic delay was 1 year. Most had hepatic (56.3%) or neurological phenotype (37.5%). The WHODAS 2.0 participation domain was the most impaired (median=4.0, IQR 2-9). WHODAS scores correlated positively with GAS-WD scores (rs=0.77, p<0.001) and PHQ-9 (rs=0.65, p<0.001), and negatively with Mini-MoCA. No significant associations were found between diagnostic delay and disability. Stratified analysis revealed no statistically significant differences in participation across genders (p=0.83) or clinical subtypes (p=0.47).

Functional disability in WD is significantly associated with disease severity, cognitive deficits, and depressive symptoms, but not with gender or clinical subtype. WHODAS 2.0 is a feasible tool for comprehensive functional assessment in WD. Multidisciplinary approaches addressing mental and cognitive health are essential.