Abstract
Background and aimApathy 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.MethodsMultiple 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.ResultsPatients 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.ConclusionsMethods 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.
Highlights
Wilson’s disease (WD) is a rare, autosomal recessive, inherited disease in which mutation of the ATP7B gene on chromosome 13 induces an adenosine triphosphate (ATP) synthesis deficiency [1, 2]
To date and to the best of our knowledge, no research focused on apathy syndrome in WD has been published, it is commonly reported in pathology-comprising basal ganglia and their neuronal loops with prefrontal cortex [8, 9]
In the WD group, Lille Apathy Rating Scale (LARS)-self was related to neither ACE-R (p = 0.052) nor global Dysexecutive Questionnaire (DEX)-self (p = 0.68)
Summary
Wilson’s disease (WD) is a rare, autosomal recessive, inherited disease in which mutation of the ATP7B gene on chromosome 13 induces an adenosine triphosphate (ATP) synthesis deficiency [1, 2]. Clinical presentation may involve predominantly hepatic, neurological, or psychiatric symptoms. Lack of agreed diagnostic criteria and common use of self-description assessment tools lead to underestimation of this clinical phenomenon. 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. 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. More objective criteria and measurement tools are needed to better understand this clinical syndrome
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