LAUSR

Wilson disease (WD) is a congenital copper metabolism disorder with various manifestations and can be treated with oral medication. This study examined the factors related to decline in activities of daily living (ADL) in patients with WD as research in this area remains limited. We enrolled 308 patients with WD, including patients who participated in a national survey and those who sought cares at the Department of Pediatrics, Toho University Ohashi Medical Center, from 2016 to 2017. We analyzed the association between ADL decline and factors including age at diagnosis, period from diagnosis to survey, hepatic symptoms, neurological signs, and psychiatric presentation at diagnosis. The relative risks (RRs) for ADL decline were estimated for each factor using multivariate modified Poisson regression analysis. Overall, 97 out of 308 (31.5%) patients experienced ADL decline. After adjusting for explanatory variables, regression analysis revealed that factors significantly associated with ADL decline were a period of ≥20 years from diagnosis to survey (adjusted RR = 2.34, 95% CI: 1.47-3.74), hepatic symptoms with splenomegaly (adjusted RR = 2.57, 95% CI: 1.26-5.24), mild neurological signs (adjusted RR = 3.20, 95% CI: 1.96-5.23), and severe neurological signs (adjusted RR = 3.63, 95% CI: 2.28-5.77). Neurological signs, hepatic symptoms with splenomegaly, and a period of 20 years from diagnosis to survey are associated with ADL decline. Thus, careful assessment of patients for these factors is necessary, and these findings may guide future efforts to improve patient prognosis. Neurological signs, hepatic symptoms with splenomegaly, and a period of 20 years from diagnosis to survey are associated with a decline in activities of daily living in patients with Wilson disease. AA and NS conceived the study. AA, KA, and YN developed the statistical analysis plan and conducted statistical analyses. All authors contributed to the interpretation of the results. AA drafted the original manuscript. NS supervised the implementation of the study. All authors reviewed the manuscript draft and revised it critically for intellectual content. All authors approved the final version of the manuscript to be published. Norikazu Shimizu received an honorarium from Alexion Pharmaceuticals, Inc. This research was supported by AMED under Grant Number JP20ek0109482h0001. The study protocol was approved by the Ethics Committee of the Faculty of Medicine, Toho University(No. A20054). The protocols of the study were disclosed on the institutions' websites or other places, such as bulletin boards, and provisions to opt-out were presented. Therefore, written consent was not obtained. Our manuscript has no associated data. Not applicable. This article is protected by copyright. All rights reserved.