Neuroanatomical Considerations Specific to the Study of Neurogenetics

2021

Preprint

INTRODUCTION: Down syndrome (DS) is the most common genetic cause of intellectual disability. Here, we use 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.METHODS: Thirteen children and adults with the DS phenotype and 12 age- and gender-matched healthy controls were analyzed by MRI and underwent a psychological evaluation for language and cognitive abilities.RESULTS: The neuropsychological profile of DS patients showed deficits in different cognition and language domains in correlation with reduced volumes of specific regional and subregional brain structures.CONCLUSIONS: The memory functions and language skills affected in our DS patients 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.

Section: Discussionsupporting

confidence: 75%

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

2021

Preprint

“…Our study results confirmed the association between temporal lobe volume reduction and deficits in working memory (see figure 20). This finding ensures the temporal lobe's role in memory function (Galaburda and Schmitt 2003, Pennington, Moon et al 2003, Vicari 2006, Menghini, Costanzo et al 2011, Mullins, Daly et al 2013, Hamadelseed, Elkhidir et al 2022) (see figure 9). Our results could not confirm the involvement of the temporal lobe in language deficits.…”

Section: Discussionmentioning

confidence: 61%

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

2022

Preprint

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.

“…Our study results confirmed the association between temporal lobe volume reduction and deficits in working memory in DS (see Figure 3). This finding ensures the temporal lobe's role in memory function in DS (Galaburda & Schmitt, 2003; Hamadelseed et al., 2022; Menghini et al., 2011; Mullins et al., 2013; Pennington et al., 2003; Vicari, 2006). Our results could not confirm the involvement of the temporal lobe in language deficits in DS.…”

Section: Discussionmentioning

confidence: 80%

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

2023

Brain and Behavior

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.