Observational studyOrphanet journal of rare diseases2025
Neurocognitive characterization and academic impact in pediatric patients belonging to the national registry of GA-1.
Observational study in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundGlutaric Aciduria Type 1 (GA-1) is a rare metabolic disorder characterized by a deficiency in glutaryl-coenzyme A dehydrogenase (GDH), leading to the accumulation of neurotoxic compounds that affect neurodevelopment. This study investigated the neurocognitive profiles and academic challenges faced by pediatric patients with GA-1. To explore the neurocognitive characterization and academic impact in pediatric patients with GA-1 from the National Registry of GA-1.
methodsThis prospective, observational, multicenter study included 42 pediatric patients (25 boys and 17 girls) from a national registry. Neurocognitive evaluations were performed using age-appropriate psychometric tests. Data analysis included analysis of variance (ANOVA) and random forest models to identify the neurocognitive variables that impact learning outcomes.
resultsThe patients showed significant variability in neurocognitive outcomes. Children under 4 years of age had average cognitive development and deficits in gross motor skills. Older children had average intelligence scores but moderate to severe impairments in executive functions, attentional processes, and visuocognitive skills. Approximately 60% of the participants required special educational support.
conclusionsGA-1 patients exhibit neurocognitive impairments that affect learning, necessitating personalized educational interventions. Therefore, early diagnosis and management of this condition are critical. Further research is needed to explore long-term neurocognitive outcomes and the relationship between biochemical subtypes and clinical outcomes.
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