Hepatolenticular degeneration, known as Wilson's disease (WD) is an autosomal recessive inherited copper metabolism disorder with excessive copper deposition in the body. Despite optimal pharmacological treatment, some neurologic presentations persist, often becoming less responsive over time. Common neurological manifestations include movement disorders such as tremor, dystonia, and parkinsonism. In the context of lifespan management, understanding the broader impact of WD on the individual is also useful, with little evidence currently available to guide rehabilitation management. This study aims to identify measurement tools used for physical functional evaluation in people with WD, to evaluate content of each tool using the International Classiﬁcation of Functioning, Disability and Health (ICF), and to examine the measurement properties of tools speciﬁc to WD.
Identified measures included two WD-specific scales; (Unified Wilson’s Disease Rating Scale, Global Assessment Scale), generic measures, and tools / items developed for other clinical populations. Measures primarily focused on impairments with very few scale items focused on activity or participation. Evidence available indicates that both WD specific scales are highly reliable with limited evidence supporting validity and responsiveness.
Appropriate assessment tools are needed to understand the motor dysfunction of WD patients, to allow evaluation over time and to support clinical trials of comprehensive rehabilitation. Very little is currently known about activity limitations and participation restrictions in this group. Further research is needed to inform measurement tool selection and treatment evaluation in this clinical group in order to achieve better outcomes and improved quality of life.
Xiahua Liu– A/Professor, The First Affiliated Hospital of Fujian Medical University,
WanJin Chen– Professor, The First Affiliated Hospital of Fujian Medical University
Zhi-Yong Wang– A/Professor, The First Affiliated Hospital of Fujian Medical University
Yi Lin– The First Affiliated Hospital of Fujian Medical University, A/Prof
Catherine Said– A/Professor, University of Melbourne
Jennifer McGinley– Head of Physiotherapy Department, University of Melbourne
Juan Ni– Professor of rehabilitation Medicine, Department of Rehabilitation Medicine, The First Affiliated Hospital of Fujian Medical University,