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Published on: November 7, 2020
Long-term neurodevelopmental outcomes following liver transplantation for metabolic disease-a single centre
Catherine Patterson1,2, Anna Gold3, Stephanie So1,2
1Department of Rehabilitation Services, The Hospital for Sick Children, Toronto, Ontario, Canada.
Insights
Children with urea cycle disorders (UCD) and organic acidemias (OA) show significant neurodevelopmental impairment post-liver transplant (LT). Earlier screening and pre-emptive LT may improve outcomes for these rare metabolic conditions.
Area of Science:
- Pediatric Neurology
- Metabolic Disorders
- Transplant Surgery
Background:
- Urea cycle disorders (UCD) and organic acidemias (OA) are rare genetic metabolic conditions causing hyperammonemia.
- Liver transplantation (LT) is a curative treatment, but neurodevelopmental outcomes require further investigation.
- Understanding post-LT neurodevelopment is crucial for optimizing care in affected children.
Purpose of the Study:
- To evaluate the neurodevelopmental trajectory of children with UCD and OA before and after liver transplantation (LT).
- To identify factors associated with neurodevelopmental outcomes in this pediatric population.
- To compare post-LT neurodevelopmental scores with population norms.
Main Methods:
- Retrospective chart review of 26 children with UCD or OA who underwent LT between 2014-2021.
- Collection of standardized motor and cognitive assessment scores at pre-LT, 1-year, and 3-years post-LT.
- Analysis of pre-LT brain MRI findings and correlation with demographic/medical variables and neurodevelopmental outcomes.
Main Results:
- A high prevalence of neurodevelopmental impairment was observed, with over 50% scoring >2 SD below the mean in general intellect.
- UCD diagnosis, argininosuccinate lyase deficiency, pre-LT seizures, and pre-LT dialysis were associated with poorer neurodevelopmental outcomes.
- Pre-emptive LT was significantly associated with higher general intellect scores at 3-years post-LT; MRI findings were not correlated with scores.
Conclusions:
- Children with UCD or OA exhibit a higher prevalence of developmental impairment post-LT compared to general population norms.
- Early identification, pre-emptive liver transplantation, and comprehensive rehabilitation are critical for improving long-term neurodevelopmental outcomes.
- This single-center study highlights the need for ongoing neurodevelopmental surveillance in children with these metabolic disorders post-transplant.
Abstract:
This study describes the neurodevelopmental outcome of children with urea cycle disorders (UCD) and organic acidemias (OA) preliver transplant (LT), 1-year, and 3-years post-LT. We performed a retrospective chart review of children with OA or UCD transplanted between January 2014 and December 2021. Standardized motor and cognitive assessment scores were collected from children who had ≥1 motor/cognitive assessment at any timepoint. Pre-LT brain magnetic resonance imaging (MRI) was graded. Associations between demographic/medical variables and neurodevelopmental outcomes were explored. Twenty-six children (64% male) underwent LT at a median age of 1.4 (interquartile range 0.71, 3.84) years. Fifteen (58%) had a UCD diagnosis, 14 (54%) required dialysis for hyperammonemia, and 10 (42%) had seizures typically around diagnosis. The proportion of children with gross motor scores >1 standard deviation (SD) below the mean increased across timepoints, and ≥50% demonstrated general intellect scores >2 SD below the mean at each timepoint. The following significant associations were noted: UCD diagnoses with lower general intellect scores (p = 0.019); arginosuccinate lyase deficiency diagnosis with lower visual motor scores at 3-years post-LT (p = 0.035); a history of seizures pre-LT with lower general intellect (>2SD below the mean) at 3-years post-LT (p = 0.020); dialysis pre-LT with lower motor scores (>1 SD below the mean) at 1-year post-LT (p = 0.039); pre-emptive LT with higher general intellect scores at 3-years post-LT (p = 0.001). MRI gradings were not associated with developmental scores. In our single centre study, children with UCD or OA had a higher prevalence of developmental impairment post-LT compared to population norms. Earlier screening, pre-emptive transplant, and rehabilitation may optimize long-term outcomes.
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