**Background:** Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. Neurological symptoms are considered rare in children presenting with hepatic onset (4%–6%), but emerging evidence suggests they may be underrecognized. Data on mental health and cognition in children and young people (CYP) with WD are limited. Medication nonadherence is a known risk for morbidity and mortality, especially in adolescence. This study aimed to describe the prevalence of neurological, cognitive, and mental health concerns and nonadherence in a large cohort of CYP with WD, and to explore the impact of multidisciplinary (MD) care.
**Methods:** A retrospective review of medical records (paper and electronic) was conducted for all patients diagnosed with WD under the care of King’s College Hospital from 1981 to 2013 (to allow sufficient follow-up). Diagnosis was based on standard criteria (Leipzig score ≥4). Data on psychosocial (mental health, neurodevelopmental), neurological (tremor, headache, weakness, movement disorder), and cognitive (memory, concentration, attention, executive function) concerns were extracted, along with documentation of medication nonadherence. Demographics, clinical course, treatment, MRI results, and outcomes were recorded. Descriptive statistics and nonparametric tests were used to compare subgroups. The study was approved as an audit (CH057).
**Key Results:** Seventy-four CYP (43 male, 58.1%) were included (median age at diagnosis 12.28 years, IQR 9.70–14.71). Presentation: acute liver disease/liver failure (37.8%, n=28), chronic liver disease (48.6%, n=36), family screening (13.5%, n=10). Median follow-up was 9.8 years (IQR 6.4–16.9). Overall survival was 86% (64/74); 10 patients died (6 post-LT), 9 of whom presented acutely. Liver transplantation was performed in 21 patients (28%); 1-year patient survival post-LT was 90%, 5-year 81%, 10-year 81%. Graft survival was 57% at 10 years.
Data on neurological, cognitive, mental health, and nonadherence were available for 69 patients. Neurological concerns were documented in 36.2% (25/69), including tremor (13%), headache (12%), and muscle weakness (4%). Cognitive concerns were noted in 14.5% (10/69), most commonly memory difficulties and poor school performance. Mental health concerns (depression, anxiety, rage, psychosis) were documented in 49.3% (34/69) and were significantly more common in the acute liver failure group (70.8%) compared to chronic liver disease (40%) and family screening (30%) groups (P=0.028). Deliberate self-harm or suicidal ideation was noted in 3 cases (4%). Nonadherence to medication was documented in 50.7% (35/69) overall, with no significant difference by presentation type. Among those with documented nonadherence, mental health concerns were more frequent (70.6%) compared to those without nonadherence (38.2%, P<0.01). Four patients (5.4%) had a diagnosis of autism spectrum condition (ASC), higher than the general population prevalence (~1.04%).
Brain MRI was performed in 22 patients; 17 were normal, 5 showed WD-related changes (basal ganglia copper deposition). Neurological concerns were more common in those who had an MRI (58%) vs. those who did not (28%, P=0.03), but no significant differences in cognitive, mental health, or nonadherence rates were found between MRI groups.
Thirty-four patients (46%) received MD clinic support. Compared to those without MD support, they had significantly higher documentation of nonadherence (62% vs. 37%, P=0.04), mental health concerns (68% vs. 31%, P=0.003), neurological concerns (53% vs. 20%, P=0.004), and cognitive concerns (24% vs. 6%, P=0.036). There was a trend toward better survival in the MD group (94% vs. 80%, P=0.076).
**Clinical Implications:** This study demonstrates that neurological, cognitive, and mental health concerns, as well as medication nonadherence, are highly prevalent in CYP with WD, particularly in those presenting with acute liver failure. The higher detection rates in MD clinics suggest that systematic multidisciplinary assessment improves identification of these issues. The authors recommend routine psychosocial screening (e.g., HEADSSS), cognitive/neuropsychological assessment at diagnosis, and integrated hepatology-neurology-psychology follow-up. Prospective studies with formal screening tools are needed to confirm these findings and to evaluate the impact of MD care on long-term outcomes.