Abstract
Down syndrome (DS) is a form of accelerated aging, and people with DS are highly prone to aging-related conditions that include vascular and neurological disorders. Due to the overexpression of several genes on Chromosome 21, for example genes encoding amyloid precursor protein (APP), superoxide dismutase (SOD), and some of the interferon receptors, those with DS exhibit significant accumulation of amyloid, phospho-tau, oxidative stress, neuronal loss, and neuroinflammation in the brain as they age. In this review, we will summarize the major strides in this research field that have been made in the last few decades, as well as discuss where we are now, and which research areas are considered essential for the field in the future. We examine the scientific history of DS bridging these milestones in research to current efforts in the field. We extrapolate on comorbidities associated with this phenotype and highlight clinical networks in the USA and Europe pursuing clinical research, concluding with funding efforts and recent recommendations to the NIH regarding DS research.
Highlights
Muscle dystonia [8], and thyroid disorders are common in both children and adults with Down syndrome (DS) [9,10,11]
This consortium concluded that the long arm of chromosome 21 represents approximately 1% of the human genome and described several structural features of the chromosome including the locations of numerous HSA21 breakpoints found in naturally occurring chromosome translocations and experimentally induced rearrangements of the chromosome, the distribution of repeat sequences, and variations in gene density along the chromosome
It is not always clear who is responsible for continued care of persons with DS as they enter adulthood, nor have standards been implemented to ensure that they receive adequate care for all conditions, with the result that these individuals may be lost between pediatrics, general medicine, and geriatrics as their symptoms of aging occur much earlier than in the general population
Summary
Down Syndrome (DS) is caused by a complete or segmental triplication of human chromosome 21 (HSA21) [1] and is the most frequent genetic cause of intellectual disability (ID) [2]. People with DS present with developmental abnormalities [3], systemic alterations in the peripheral system, as well as neurological and cognitive deficits (Table 1) [2,4,5,6]. The most common causes for emergency room (ER) visits in children with DS are ear, nose, and throat issues [7]. Muscle dystonia [8], and thyroid disorders are common in both children and adults with DS [9,10,11]. Descriptions of clinical symptoms in individuals with DS have been published since the early. These are organized by age and sample citations provided
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
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 call
