Correlating MRI-Based Brain Volumetry and Cognitive Assessment in People with Down Syndrome

Abstract

INTRODUCTION: Down syndrome is the most common genetic cause of intellectual disability. Children and adults with Down syndrome show deficits in various aspects of language performance and explicit memory. Here, we used magnetic resonance imaging (MRI) on children and adults with Down syndrome to characterize changes in the volume of specific brain structures involved in memory and language and their relationship to features of cognitive-behavioral phenotypes. METHODS: Thirteen children and adults with the Down syndrome phenotype and 12 age- and gender-matched healthy controls (age range 4-25) have assessment by MRI and underwent a psychological evaluation for language and cognitive abilities. RESULTS: The cognitive profile of people with Down syndrome showed deficits in different cognition and language domains correlated with reduced volumes of specific regional and subregional brain structures, confirming previous related studies. Interestingly, in our study, persons with Down syndrome also showed a greater parahippocampal gyrus volume, in agreement with the results found in previous reports. CONCLUSIONS: The memory functions and language skills affected in studied individuals with Down syndrome correlate significantly with the reduced volume of specific brain regions, allowing us to understand Down syndrome's cognitive-behavioral phenotype. Our results provide an essential basis for early intervention and the design of rehabilitation management protocols.