what is down syndrome? A photo of a pregnant woman's belly and a description of the genetic disorder, Down Syndrome.

You may have heard of Trisomy 21, Down Syndrome, or Down’s syndrome but you may not be sure exactly what it is. Maybe you are doing a research paper, maybe you have had a prenatal screen, maybe your sister-cousin-best friend- daughter-granddaughter-or niece has just gotten a diagnosis and you are trying to find information. You have come to the right place. What is Trisomy 21 Down Syndrome anyway?

How Does Down Syndrome happen?

Down Syndrome is a condition characterized by an extra copy of chromosome 21. Let’s roll way back to high school biology for a moment. Each cell in your body contains threadlike structures called chromosomes. People have 46 chromosomes in total in each cell throughout their entire bodies. Each person gets 23 chromosomes from mom and 23 chromosomes from dad. These chromosomes (found in the cell’s nucleus) carry genetic information. When a person has Down Syndrome, or Trisomy 21 they have gotten an extra copy of chromosome 21. So instead of having 46 chromosomes (23 pairs) individuals with Down Syndrome have 47 chromosomes in their cells. They have gotten extra genetic material that is stored in the cells that make up their bodies. This happens at random and is not the result of drug use, inadequate prenatal care, or exposure to any environmental hazards. This is a genetic condition that occurs in roughly 1 in every 1100 births worldwide.

How do you prevent Down Syndrome?

This is the interesting thing…you don’t prevent it. There is nothing you can do to ensure your baby will not have Down Syndrome. There are prenatal screens (1-4% can have a false positive) that can be used to detect the likelihood that a child has a higher chance of being born with Down Syndrome. There are also prenatal diagnostic tests that will confirm the presence of extra genetic material and officially diagnose a baby as having Down Syndrome. There is a risk of miscarriage when these tests (Amniocentesis and CVS) are performed.

What health issues are there for people with Down Syndrome?

Babies born with Down Syndrome will typically have lower muscle tone at birth and thereafter which is what causes some gross motor delays. (walking is usually later for children with Down Syndrome). Children born with Down syndrome will have a smaller stature, their average adult height is usually 4’11”- 5’2″. There is an incidence of congenital heart defects present with Down Syndrome and this is seen in roughly 60% of children born with Down Syndrome. Hypothyroidism is also common in individuals with Down Syndrome and can be treated with medication. Down Syndrome is considered a developmental disability because children are slower to grow, mature, and often slower to learn. The average I.Q. of most people is between 85-110 and the average I.Q. for an individual with Down Syndrome is 50-69. There can also be issues with feeding and weight gain, however, there are a number of early intervention programs that help parents aid their children in reaching their full potential.

What does Down Syndrome look like?

Individuals with Down Syndrome have some common physical features but most will look more like their biological family members than they will others with Down Syndrome. There is usually a noticable difference in the eye shape and size and sometimes the overall facial features can be somewhat flatter and less pronounced than typical peers. Some people will have a sandal gap (large space between big toe and rest of toes) and a Simian Crease (one long line running across the palm of the hands). Sometimes the neck can appear a bit thicker and the nose a little less prominent. For actual photos of individuals with Down Syndrome a good place to look is on Instagram under the hashtags #downsyndromelove #theluckyfew #homiewithanextrachromie and #downsyndromebaby.

Down Syndrome outcomes?

Historically those with Down Syndrome were not thought to be capable of accomplishing much. However, with the introduction of Early intervention strategies, we are now seeing that there are some amazing accomplishments being made by individuals with Down Syndrome. For example, Frank Stephens spoke at the White House and in front of Congress.

Sean McElwee is on an Emmy Award winning reality show as well as the founder of Seanese, tees that are amazingly funny.

In recent years we are now seeing individuals with Down syndrome get married, attend college, become entreprenuers and self-advocates.

So, what is Down Syndrome anyway? In short it is a genetic condition that cannot be caused, or cured but can still lead to a beautiful life.

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