Correlating MRI-based brain volumetry and cognitive assessment in people with Down syndrome

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

Automated summary

In this study, magnetic resonance imaging (MRI) was used to examine the brain structures of individuals with Down syndrome (DS). The results showed that deficits in memory and language skills in people with DS are related to reduced volumes of specific brain regions. These findings provide important insights into the cognitive-behavioral phenotype of DS.