Evaluation of the Unified Wilson's Disease Rating Scale (UWDRS) in German patients with treated Wilson's disease

Abstract

Wilson's disease (WD) is an inherited autosomal-recessive disorder of copper metabolism characterized by a wide variety of neurological, hepatic, and psychiatric symptoms. The aim of the present study was the development and evaluation of a clinical rating scale, termed Unified Wilson's Disease Rating Scale (UWDRS), to assess the whole spectrum of clinical symptoms in WD. Altogether 107 patients (mean age 37.6 +/- 11.9 years; 46 male, 61 female) with treated WD participated in the study. Cronbach's alpha as a measure of the internal consistency for the entire scale was 0.92, whereas the intraclass correlation coefficient (ICC) was 0.98 (confidence interval (CI(95%)) 0.97-0.99), indicating an excellent interrater reliability as determined in 32 patients. Besides the total score was significantly correlated with the earning capacity of the patients as indicated by an estimated Spearman's rho approximately 0.54 (CI(95%) 0.40-0.69, P < 0.001). In summary, the UWDRS appears to be a promising tool to assess the disease severity in WD. Its usefulness in clinical research and drug trials should be further addressed.

Evaluation of the Symptomatic Treatment of Residual Neurological Symptoms in Wilson Disease

“…The results with respect to tiapride (as monotherapy, n = 3) are inconclusive since hyperkinesia is not a typical symptom in treated WD and was therefore not specifically addressed in the current study [7]. However, it is worth mentioning that tetrabenazine (in combination therapy) had a good effect on hyperkinesia in 1 patient.…”

“…In a previous report we already suggested that a substantial proportion of WD patients still features residual neurological symptoms [7]. Furthermore, almost half of the patients taking part in the mailed questionnaire survey subjectively reported residual neurological symptoms.…”

“…With early diagnosis and medical therapy, progress can be avoided in most cases, whereas without treatment the disease is usually lethal [6]. However, despite the removal of excess copper by chelating agents, WD patients can still feature residual neurological symptoms [7]. To our knowledge, there are no data on the symptomatic treatment of WD patients with such symptoms and its potential effects.…”

Encephalopathy in Wilson Disease: Copper Toxicity or Liver Failure?

“…Severity of neurological impairment may be scored using Unified Wilson's disease Rating Score (UWDRS) which consist 3 parts including: 1. conciousness, 2. changes in activities of daily life and 3. the results of the clinical neurological examination. 26,27 Contrary to HE, disturbed consciousness, pyramidal signs, myoclonus and/or asterixis in neurological cases of WD are very rarely observed. Another possibility to quantify the symptoms is the Global Assessment Scale (GAS) which includes global disability (tier 1: liver, cognition and behavior, motor, osseomuscular) and neurological assessment (tier 2: detailed neuropsychiatric).…”

Liver Transplantation in Wilson's Disease with Neurological Impairment: Evaluation in 4 Patients

“…Patients were evaluated before and after LT using both the modified Rankin scale and the more specific Unified Wilson's Disease Rating Scale (UWDRS) [6][7][8] . Items of bradykinesia, rigidity and dystonia were scored for left and right sides.…”