Journal
NEUROIMAGE-CLINICAL
Volume 32, Issue -, Pages -Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.nicl.2021.102815
Keywords
Magnetic resonance imaging; Down syndrome; Entorhinal; Perirhinal; Volumetrics; Clinical
Categories
Funding
- National Institutes of Health [R01HD078561, R21MH118739, R03NS091587, R21HD098606]
- Natural Science and Engineering Research Council of Canada's Canada Research Chair grant [231266]
- Canada Foundation for Innovation
- Nova Scotia Research and Innovation Trust [R0176004]
- St. Francis Xavier University [R0168020]
- Nova Scotia Health Research Foundation
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Retrospective analysis of MRI examinations in individuals with Down syndrome revealed volumetric brain abnormalities, which may explain phenotypic features of DS and confirm findings from previous literature.
Down syndrome (DS) is a genetic disorder caused by the presence of an extra full or partial copy of chromosome 21 and characterized by intellectual disability. We hypothesize that performing a retrospective analysis of 73 magnetic resonance imaging (MRI) examinations of participants with DS (aged 0 to 22 years) and comparing them to a large cohort of 993 brain MRI examinations of neurotypical participants (aged 0 to 32 years), will assist in better understanding what brain differences may explain phenotypic developmental features in DS, as well as to provide valuable confirmation of prospective literature findings clinically. Measurements for both absolute volumes and volumes corrected as a percentage of estimated total intracranial volume (%ETIV) were extracted from each examination. Our results presented novel findings such as volume increases (%ETIV) in the perirhinal cortex, entorhinal cortex, choroid plexus, and Brodmann's areas (BA) 3a, 3b, and 44, as well as volume decreases (%ETIV) in the white matter of the cuneus, the paracentral lobule, the postcentral gyrus, and the supramarginal gyrus. We also confirmed volumetric brain abnormalities previously discussed in the literature. Findings suggest the presence of volumetric brain abnormalities in DS that can be detected clinically with MRI.
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