Mental Health, Cognitive, and Neuropsychiatric Needs in Children and Young People With Wilson Disease

Abstract

Objective: Wilson disease (WD) is associated with neurological, psychiatric, cognitive, and psychosocial difficulties, but there is little data regarding the nature and prevalence of these problems in children and young people (CYP). Methods: A single-center case-note review to establish the incidence and nature of these issues in CYP with WD, managed before and after multidisciplinary team (MDT) clinics, was established. Results: Out of 69 (43 males) CYP with WD, 37.8% presented with acute liver failure, 48.6% with chronic liver disease and 13.5% after family screening. Medical treatment was with penicillamine (40), trientene (18), zinc and penicillamine/trientene (11), and zinc monotherapy (2). Twenty-one underwent liver transplantation. After a median follow-up of 9.8 (IQR 6.4-16.9) years, 86% are alive. Six died posttransplantation and 7 grafts were lost. Mental health difficulties were recorded in 49.3%, particularly prevalent in the acute liver failure group (70.8%). Nonadherence was common (50.7%) and associated with greater mental health prevalence. Neurological issues were reported in 36.2% and poor cognition/attainment in 14.5%, consistent across modes of presentation. Four patients had diagnoses of autism spectrum conditions, all diagnosed pre WD. CYP seen within an MDT-clinic had more frequent documentation of all issues examined, but lower levels of late graft loss (94% versus 80%, P = 0.07). Conclusion:Our data highlight the need to offer management in WD patients especially as these aspects are underrecognized in CYP presenting with liver involvement. We aim to highlight the importance of multidisciplinary input when looking after this population beyond transition through to adult services.

Re‐evaluation of King Wilson Index in Children With Acutely Decompensated Hepatic Wilson Disease

“…Given the rarity of WD, the cohort of children with WD requiring LT in a single-centre study is quite small, which could affect the power of the study, hence it is difficult to be certain that somebody with an index of more than 11 would have survived without LT. A multicentre prospective re-evaluation of WDI is a way forward. Data on noncompliance were not collected as part of this study; however, a recent study from our centre has reported a variable degree of noncompliance in 50% of WD cases (21). It is important to note that a comprehensive mutational analysis using whole exome sequencing should be carried to exclude other conditions mimicking WD like MDR3 disease.…”

UK guideline on the transition and management of childhood liver diseases in adulthood

“…This may be a time when poor adherence to treatment occurs, and it is important to consider whether any behavioural changes are due to poor control of WD rather than an expected stage of adolescence. 225 Magnetic resonance imaging of the brain to look for characteristic changes could potentially be helpful in identifying the development of neuropsychiatric disease. 226 Clinicians should also be aware of the potential for nutritional deficiencies in iron or zinc and of rarer longterm complications such as Fanconi syndrome or effects of long-term treatment such as Elastosis perforans serpiginosa, which may occur with D-penicillamine use.…”

“…There are several potential issues that may affect YAs with WD. This may be a time when poor adherence to treatment occurs, and it is important to consider whether any behavioural changes are due to poor control of WD rather than an expected stage of adolescence 225 . Magnetic resonance imaging of the brain to look for characteristic changes could potentially be helpful in identifying the development of neuropsychiatric disease 226 .…”