Objective: We aim to analyze the disability status of WD patients by using the World Health Organization Disability Assessment Schedule 2.0 scale (WHODAS 2.0) and to observe the correlation between the severity of disease, depression, and cognitive status with functional abilities of these patients.

Background: Wilson Disease (WD) is a metabolic disorder that can be successfully treated. Nonetheless, patients still have a relentlessly progressive course of disease and disability, and a wide range of social limitations. Therapy that requires lifelong medication, and periodical medical controls, may also affect the way they see themselves and relate to others.

Method: Cross-sectional study with twenty-six participants with WD. The severity of WD was assessed by the Global Assessment Scale for WD; survey measured disability level using WHODAS 2.0; the mental status using Mini Montreal Cognitive Assessment, and Patient Health Questionnaire (PH9) for depression symptoms.

Results: We found a strong association between disability and severity of symptoms (rs=0.773;p=0,001). The median score of WHODAS 2.0 was 17.00 [IQR12-51], and the most affected domain was Participation (median 4.5[IQR2-9]). Life Activities (rs=0.840;p=0.001) showed the strongest association with the severity of the disease (rs=0.840;p=0.001).
Dysfunction in Participation in society was best related to musculoskeletal symptomatology (rs=0.625;p=0.003) and higher scores in PH9 (rs=0.628;p=0.011).
We also found a stronger association between functional status and predominantly WD neurological dysfunction versus WD liver dysfunction.

Conclusion: The severity of disease, depression, and cognitive status are associated with functional activities. Looking beyond mortality and disease by describing how people live with their health conditions should not be neglected.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/whodas-2-0-to-access-functional-disabilities-of-wilson-diseases-patients/