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May 2, 2023 in Down Syndrome

Let’s Get Real About Down Syndrome

This is some basic information every person who knows or cares about someone who has Down Syndrome. First of all, it’s not Downs Syndrome, but Down Syndrome. Second, it is a syndrome, not a disease or a disorder.
According to the U. S. National Library of Medicine, a syndrome is “a recognizable complex of symptoms and physical findings which indicate a specific condition for which a direct cause is not necessarily understood.” In simpler words, they know it when they see it, but have no idea what causes it.
You will hear phrases like “genetic mutation” and references to “chromosome 21” or “Trisomy 21”, but the exact cause remains unknown. What is known is that about 1 in every 700 children will have the most common form of Down Syndrome.
There are two other types of Down Syndrome – Translocation and Mosaic. Each is found only in about 2 – 3 percent of the children diagnosed with Down Syndrome. The symptoms are the same, so the different names are primarily used for medical research. Speaking of names, Down Syndrome got its name from the British physician, John Langdon Down who characterized the syndrome more than 150 years ago. He called it “Mongolism” which was equated with defining people with low IQs, as evidenced in his professional treatise, “Observations on an Ethnic Classification of Idiots.” It took another 100 years for medical professionals to recognize the name was misdirected at best, changing the name while recognizing its discoverer.

A complete list of the physical features of Down Syndrome can be found at the Center for Disease Control, so here are some of the most commonly associated characteristics:
*Almond-shaped eyes that slant up
*Small ears
*Small hands and feet
*Will be shorter in height than normally developed children

It is critical to recognize that no single characteristic indicates a person has Down Syndrome, but it is a number of characteristics that are best diagnosed by a medical professional. When a baby is born with Down Syndrome or any other medical condition, all too often the tendency is for the mother to look for a place to put the blame: on herself, the father, or anyone or anything that comes to mind at the time. The fact about Down Syndrome is that there is no one to blame, as it is very rarely inherited. But there are certain realities people should be aware of: *If you have a child with Down Syndrome, there is a higher risk of having a second child who will have Down. Thanks to technology, there are professionals who are available who can provide counseling and advise prospective parents on the risk involved. *That rare type of Down Syndrome, the Translocation, is the inherited type. It can come from either the mother or the father – or both. The issue of DNA testing and privacy is a personal one, so the decision to explore that option is strictly up to the prospective parents. *There is a somewhat controversial issue of the age of the mother and its impact in determining the risk of a baby being born with Down Syndrome. As a fact of medical science, after age 35 a woman’s eggs have a greater risk of improper chromosome division, a primary cause for the development of the most common cause of Down Syndrome. Opposing this view are people who maintain that the reason the statistics are biased is because there are far fewer births after age 40, so further research is needed before equating age and risk factors.

Based on this broad understanding of Down Syndrome, the question to be answered is what is the best approach to providing the best care for a child or adult who is faced with its many challenges. This will depend on the number and severity of each challenge, so it is important to work with experienced medical and social professionals to determine the best long term course of action. A critical aspect of answering the question is understanding what the life expectancy of someone afflicted with Down Syndrome is projected to be. Currently, that age is about 60 years, which from a realistic viewpoint is longer than some professional athletes live.
One of the guideposts in arriving at a reasonable life expectancy number is to consider the known health conditions that often are found with Down Syndrome patients:
*Heart defects – this life-threatening problem is found in about half of all Down Syndrome babies.
*Immune disorders – these are problems that specifically are the result of having Down Syndrome as it directly affects the person’s immune system. Autoimmune diseases such as diabetes are more likely to occur, as well as cancer.
*Obesity – the current concern with the long term effects of obesity for the general population is known, and Down Syndrome patients have a greater tendency to become obese.

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