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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., (© 2024 The Author(s). Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.)

Neurocognitive deficits commonly occur following intracerebral hemorrhage (ICH) in childhood, yet this population remains understudied. The current study is a preliminary exploration of neurocognitive outcomes in this population. At the Hospital for Sick Children in Toronto, Canada, 17 patients ( M age  = 14.2, SD  = 4.6) with a history of childhood ICH completed a neuropsychological assessment evaluating perceptual reasoning, verbal reasoning, processing speed, working memory, verbal learning, verbal memory, visuomotor integration, selective attention, and executive functioning. Mean Full Scale IQ (FSIQ; M  = 98.1, SD  = 13.6) fell within the clinically average range compared to population norms, though it was skewed toward lower ranges. Furthermore, approximately 50-60% of the participants scored under the clinically average range on tests of verbal learning, verbal memory, processing speed, and visuomotor integration. Youth with childhood ICH may present with FSIQ within the average range, but as a group they skew toward lower ranges and are more likely to demonstrate deficits in distinct neurocognitive domains. Clinical evaluation of a wide range of neuropsychological skills is warranted. Clinical implications encompass informing of intake interviews, development of test batteries, and appraisal of prognosis. Findings contribute to the limited knowledge base about neurocognitive outcomes following childhood ICH.