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February 20 2020

7 Facts You Still Don’t Know About Down Syndrome, Probably


 
It can be quite easy to tell that a person has Down Syndrome (DS) with just one look due to the patient’s apparent physical appearance and mental disability. However, aside from these aspects, there are many interesting things you may still not know about this genetic disorder.
 
This post is dedicated to helping you learn and understand the facts behind Down Syndrome.
 
What is Down Syndrome?
Down Syndrome is a genetic condition where a person is born with an extra copy of chromosome 21, causing delays in the way that a baby’s body and brain develop. The presence of an extra chromosome in one’s genes is known as trisomy, which is why Down Syndrome is also known as trisomy 21.
 
You may notice that people who are afflicted with DS look similar to one another, with physical attributes that include a flattened nose bridge, eyes that slant upwards, small ears, a short neck, and small hands and feet. Those with Down Syndrome have a mildly low to moderately low IQ, and they speak more slowly than children of the same age range.
 
Sadly, DS is the least funded major genetic condition by the US National Institutes of Health despite being the most common chromosomal disorder. This is the reason why little is known about it.
 
8 Facts You Still Don’t Know, Probably
Here are lesser-known facts about Down Syndrome that are worth looking into:
 

1. On average, a person with Down Syndrome has a lifespan of 60 years.
This is a dramatic increase in the life expectancy of DS patients, which was about 25 years in the 1980s.
 
At that time, people in the U.S. who have Down Syndrome as early as their infant or childhood years were confined to institutions where they were neglected and not properly cared for. This is in stark contrast to the professional pediatric services that young DS patients receive nowadays.
 

2. The exact cause of the extra chromosome is still unknown.
Down Syndrome happens when a baby is born with a full or partial duplicate of chromosome 21. However, until now, there is no medical explanation as to why this happens. Research can only give data about errors occurring when an egg or sperm cell is formed, but it cannot establish any behavioral activity from parents or any environmental factor that causes DS.
 

3. For every 1,000–1,100 births, there is one case of Down Syndrome worldwide, making it the most common chromosomal disorder.
The figure above means that every year, some 3,000 to 5,000 children are diagnosed with Down Syndrome. Estimates also place the number of U.S. families affected by DS to about 250,000. In the Philippines, 1 out of 800 babies is born with DS. Although they may not have an optimal quality of life, Down Syndrome patients and their families can still be successful and happy.
 
In fact, a study from the Vanderbilt Kennedy Center, a research facility dedicated to improving the lives of intellectually- and developmentally-challenged individuals, has reported that the divorce rate among married couples taking care of their kids with DS is lower than those whose children are battling other pediatric diseases or those who do not have any disability.
 

4. There are three types of Down Syndrome: trisomy 21 (nondisjunction), translocation, and mosaicism.
 
  • Trisomy 21: This is characterized by a process called nondisjunction, where the two copies of chromosome 21 fail to separate during the formation of the egg or sperm. The result is that the cells formed after the egg and sperm unite have three separate copies of a chromosome instead of just two.
  • Translocation Down Syndrome: This happens when the extra chromosome 21, which is supposed to be a separate copy, is attached or translocated to another chromosome. There are no distinct cognitive or medical differences between people with translocation DS and trisomy 21.
  • Mosaic Down Syndrome:  In this case, some of the cells of the patient have three copies of chromosome 21, while other cells have the usual two. People with mosaic Down syndrome have fewer characteristics typically associated with the condition since not all cells have excess chromosome 21.
     
5. Maternal age is the sole risk factor for Down Syndrome.
The likelihood of women giving birth to a child with Down Syndrome increases by age; however, since younger women are more fertile, 80% of children with this genetic disorder are born to mothers under 35.
 

6. Down Syndrome is more of a genetic rather than a hereditary condition.
Parents may carry the genes of translocation Down Syndrome but do not have any signs or symptoms of it. In fact, only one-third of cases involving translocation Down Syndrome is hereditary, while neither trisomy 21 nor mosaic is inherited from a parent.
 

7. Women who gave birth to a child with Down Syndrome have an increased chance of having a second with the condition.
If the mother is the carrier of the translocation Down Syndrome genes, there’s a 10%–15% chance of the second child having the condition. The risk is lower at 3% if it’s the father who’s carrying the genes.
 
Practical Tips to Help Your Child with Down Syndrome Behave Well
  • Set high expectations. With proper medical attention and care, children with Down Syndrome can be as capable as their peers. Encourage them to develop their abilities so that they can live independently or with guided assistance.
  • Create a daily routine. Young children with Down Syndrome function better when you set a fixed time for them to do their day-to-day tasks.
  • Give your child some control. Just like other kids, your child needs to be able to solve problems or make choices on their own. What you can do is to offer help, while giving them some leeway so they’ll feel empowered and trusted.
 
Educate Yourself About Down Syndrome
Raising children with Down Syndrome may be tough, but when armed with the right knowledge, one will find a deep sense of fulfillment in taking care of the child. The child’s doctor can also be a strong support system for the family.
 
With regular doctor visits, there will be a deeper understanding of the needs of a child with DS. Early diagnosis and intervention can help the child cope with the condition with more certainty, so schedule a consultation now with Makati Medical Center’s Neurology and Pediatrics Department if you need help in taking care of your child with Down Syndrome.