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Free Content What We Should Not Forget about Down Syndrome

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Down syndrome is the foremost common genetic cause of intellectual disability. The additional copy of chromosome 21 confers potential changes in virtually all organ systems, including the brain, neck structures, and spine. Neuroradiologists should be aware of the multitude of imaging findings in patients with Down syndrome to correctly identify and diagnose life-altering conditions associated with this syndrome. In particular, the high prevalence of age-related cognitive decline and dementia stands out more clearly in recent decades due to the notable increase in these individuals' survival. Although the early and timely diagnosis of cognitive decline in patients with varying degrees of intellectual disability has not been an easy task from the clinical point of view, anatomic and functional brain studies have shown an essential role because they allow the early recognition of abnormalities that precede the cognitive decline. Furthermore, the similarities and differences in neuropathologic, genetic, and imaging aspects in patients with Down syndrome have allowed extrapolation for a better understanding of the mechanisms linked to Alzheimer disease development.

Learning Objective: To review and systematize the distinctive characteristics and abnormalities of the head and neck, vertebral column, and CNS present in Down syndrome

Keywords: AD = Alzheimer disease; APP = amyloid precursor protein; DS = Down syndrome

Document Type: Research Article

Publication date: May 1, 2021

More about this publication?
  • Neurographics is the peer-reviewed, quarterly educational journal of the American Society of Neuroradiology. The journal includes review articles as well as high-yield case reports that have been solicited from society meetings including the annual ASNR meeting as well as the American Society of Spine Radiology, the American Society of Pediatric Neuroradiology, the American Society of Functional Neuroradiology, and the American Society of Head and Neck Radiology meetings. Unsolicited educational review articles and case reports are also accepted for review at the discretion of the Editor-in-Chief. Submissions focusing on a pictorial approach to educational objectives are highly encouraged. The journal is open access and available online. CME credit is offered for reading review articles and completing quiz-based self-assessment activities through the ASNR Education Connection portal.


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