Abstract
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.
Highlights
Down syndrome (DS) is the most common chromosomal disorder with a prevalence of 8.27 per 10,000 in the United States (Presson et al, 2013)
To confirm that the findings reported are a result of group-wise differences between the DS and typically developing participants, a statistical model based on multivariable regression (MATLAB R2018a, MathWorks Inc., MA, USA) was constructed, adjusting each measure ment within each age range to control for group-wise differences in age, gender, and estimated total intracranial volume
Our analysis demonstrated reduced volumes (%ETIV) in the white matter (WM) of the cuneus, the paracentral lobule, the postcentral gyrus, and the supramarginal gyrus
Summary
Down syndrome (DS) is the most common chromosomal disorder with a prevalence of 8.27 per 10,000 in the United States (Presson et al, 2013). There are three types of DS: trisomy 21, translocation DS, and mosaic DS (Shin et al, 2010). Trisomy 21 is characterized by each cell in the body having three copies of chromosome 21 (Shin et al, 2010; Martin et al, 2009; Roberts et al, 2007). Mosaic DS is characterized by the presence of three copies of chromosome 21 occurring in some, but not all cells (Shin et al, 2010; Lowry et al, 1976; Nielsen and Sillesen, 1975; Sherman et al, 2007). People with DS are at an increased risk for multiple health problems such as congenital heart disease, hearing loss, ophthalmological problems, psychiatric disorders and Alzheimer’s dis ease (AD) (Ropper and Bull, 2020; Roizen and Patterson, 2003)
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
