Clinical significance of self-descriptive apathy assessment in patients with neurological form of Wilson’s disease

Abstract

Background and aim Apathy is one of the neuropsychiatric symptoms of Wilson’s disease (WD) which typically affects the brain’s fronto-basal circuits. Lack of agreed diagnostic criteria and common use of self-description assessment tools lead to underestimation of this clinical phenomenon. The aim of this study was to investigate whether subjective and informant-based clinical features of apathy in patients with WD enable clinicians to make a valid diagnosis. Methods Multiple aspects of goal-oriented behavior were assessed in 30 patients with the neurological form of WD and 30 age-matched healthy participants using two questionnaires, the Lille Apathy Rating Scale (LARS) and the Dysexecutive Questionnaire (DEX). Both included a self-descriptive and a caregiver/proxy version. Cognitive functioning was estimated with the use of Addenbrooke’s Cognitive Examination-Revised. Results Patients obtained significantly worse scores on all clinical scales when more objective measures were considered. Features of apathy and executive dysfunction were revealed in patients’ caregiver versions of LARS and DEX, which may indicate poor self-awareness of patients with WD. Roughly 30% of participants were likely to present with clinically meaningful symptoms, independent of cognitive dysfunction. Conclusions Methods relying on self-description appear inferior to informant-based scales when diagnosing apathy. More objective criteria and measurement tools are needed to better understand this clinical syndrome.

Large-scale networks changes in Wilson's disease associated with neuropsychiatric impairments: a resting-state functional magnetic resonance imaging study

“…Previous studies indicated that cognitive and psychiatric problems in WD patients might result from the joint abnormal functions of ITG, MFG [40,41] . Also, we located that reduced FC in the FPN network used to be negatively correlated with the UWDRS-N. Studies focusing on neuropsychological impairments in WD have demonstrate that patients with WD showing neurological signs present signi cant de cits in a wide range of cognitive domains [42,43] , and sufferers recruited in this study showcase impairments in executive function. It suggested that disruption in DMN, DAN, FPN networks and integrative conversations between them, which involve the failure of higher-order cognitive processes, might provide a neurophysiological account of the maladaptive daily behaviors of WD patients.…”

Clinical features and power spectral entropy of electroencephalography in Wilson's disease with dystonia

“…The patients with dystonia may had difficulty finishing the tasks because of their inflexible movements. The more important reason was that the impairments in the prefrontal cortex (Leśniak et al., 2022 ). Highly sensitive to the dopaminergic environment, the prefrontal cortex is also related to executive functions (Ott & Nieder, 2019 ; Uddin, 2021 ).…”

“…Disease features correlate with the organs or tissues affected, which are mainly the liver and brain leading to hepatic cirrhosis, dysarthria, and dysphagia (Dusek et al., 2019 ). In addition, WD patients suffer from anxiety, depression, or other neurological symptoms (Leśniak et al., 2022 ). The percentage of WD patients with dystonia has been reported to range from 11% to 65% (Członkowska et al., 2018 ).…”