Impact of Executive and Adaptive function on functional outcomes in adults with Maple Syrup Urine Disease

Gold, Jessica I; Strong, Alanna; Gold, Nina B; Yudkoff, Marc; Szalda, Dava; Jan, Sophia; Schwartz, Lisa A; Ganetzky, Rebecca · 2024 · Crossref

DOI: 10.1101/2024.05.17.24307509

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Summary

This study investigates the impact of executive and adaptive function on functional outcomes in adults with Maple Syrup Urine Disease (MSUD), an inherited metabolic disorder. While early diagnosis and treatment have improved survival, many individuals struggle with the transition to independent adulthood due to persistent neurocognitive deficits. The research aims to correlate standardized neurocognitive assessments with real-life functional outcomes, such as education, employment, and living situation, to identify predictive factors for independence and improve prognostication. The researchers conducted a remote study involving 28 adults with MSUD (aged 21+) and a matched control group. Participants completed a battery of assessments including the Behavior Rating Inventory of Executive Function (BRIEF-A), the Adaptive Behavior Assessment System (ABAS-3), and the Adaptive Cognitive Evaluation (ACE), a web-based platform using adaptive games. Clinical history, including diagnosis timing, liver transplantation status, and historical leucine levels, was extracted from medical records. Statistical analyses, including linear regression and ANOVA, were used to correlate neurocognitive scores with functional outcomes, adjusting for age. Results indicated that adults with MSUD had significantly impaired executive and adaptive function compared to controls, though mean scores remained within the lower end of the normal range. Executive dysfunction, particularly in metacognition and behavioral regulation, correlated negatively with educational attainment, full-time employment, and skills required for medical self-management and independent living. Notably, clinical history factors such as median leucine levels, genotype, and liver transplantation did not predict functional outcomes. However, neurocognitive assessments revealed that individuals diagnosed pre-symptomatically (asymptomatic diagnosis) performed significantly better than those diagnosed after symptom onset, suggesting a benefit to early intervention. Liver transplantation did not improve neurocognitive scores compared to those with native livers. The study concludes that while independent adulthood is attainable for individuals with MSUD, significant executive and adaptive deficits persist and hinder autonomy. The findings highlight that neurocognitive status, rather than biochemical markers or clinical history, is a stronger predictor of functional outcomes. The authors recommend integrating routine, targeted neurocognitive assessments into healthcare transition planning to tailor support for medical self-management and independent living. This approach may improve long-term outcomes for adults with MSUD and other inherited metabolic disorders by addressing modifiable neurocognitive processes.

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• cognitive impairment