Medical Understanding Down's Syndrome: A Disorder of Thought or Expression?

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Down syndrome, also known as Trisomy 21, is a genetic disorder caused by the triplication of the 21st chromosome, leading to various cognitive and motor deficits. The cognitive development in individuals with Down syndrome can vary widely, ranging from mild to moderate intellectual disability, while emotional and social skills may remain relatively intact. Communication challenges are common, as individuals may struggle to express their thoughts verbally despite having a clear understanding of concepts. Some individuals exhibit resistance to change and stubbornness, which may be linked to neurological differences in brain structure. Research into these structural changes and their impact on behavior is ongoing. Speech therapy can aid in improving communication abilities for those affected.
scott_alexsk
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Hello, I was wondering what exactly Down's Sydrome is a disorder of? I mean is it a disorder in the expression of ones thoughts into movements, such as speech, or is it a disorder that directly effects the thought process?
-Scott
 
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It is caused by a mutation at the gene level, and I believe the developing embryo brain is expressed differently, causing the cognitive and motor deficits.
 
You may have also heard it called "Trisomy 21", which refers to the triplication in the 21st pair of human chromoses and serves as the genetic flaw that initiates the syndrome. Check out http://www.ds-health.com/trisomy.htm" .
 
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scott_alexsk said:
Hello, I was wondering what exactly Down's Sydrome is a disorder of? I mean is it a disorder in the expression of ones thoughts into movements, such as speech, or is it a disorder that directly effects the thought process?
-Scott
Firstly the cognitive development is quite variable in individuals with Down syndrome. There is mild to moderate mental retardation, while emotional and social abilities can be quite normal. I do think there are also problems with physically expressing themselves, speech therapy addresses that problem.
 
Well it seems that my sister, who has Down's Syndrome, is not necessarily incapible of understanding what really happens and how things work, but she is unable to communicate effectively. I mean over time we understand what she means and what she wants, but I know her actual mind is beyond what she is able to express in words. She has only moderate Down's Syndrome with no heart defects. Though one thing that is interesting about her is that she is very resistant to change, and very stubborn seemingly randomly from time to time. I mean 'no' is nearly her favorite word, but as of late she has been better. I wonder what is exactly changed in her brain that causes this. Have they ever done a study on the difference in structure?
-scott
 
Popular article referring to the BA.2 variant: Popular article: (many words, little data) https://www.cnn.com/2022/02/17/health/ba-2-covid-severity/index.html Preprint article referring to the BA.2 variant: Preprint article: (At 52 pages, too many words!) https://www.biorxiv.org/content/10.1101/2022.02.14.480335v1.full.pdf [edited 1hr. after posting: Added preprint Abstract] Cheers, Tom

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