Today is Worldwide Down Syndrome Day. Why you are ask am I writing about this. Well, simply because everyone has probably known at least one person or one family that has been affected by Down syndrome. And we need to spread awareness. According to research there are approximately 200,000 cases in the US alone every year. And is something that can happen with any delivery. Down Syndrome is caused by the baby having an extra or copy of the 21st chromosome. Everyone has 23 pairs of chromosome. And for whatever reason a person with Down’s will have an extra copy of the 21st. That extra chromosome then causes alterations in the baby’s development. Those alterations cause the changes we most likely expect in someone with Downs. A person with Down’s usually has low muscle tone, a small stature, an upward slant of the eyes, and a single deep crease across the palm of the hand. These are the most common characteristics of people with Down’s. Each person with the Syndrome may have a variation of each of these characteristics or none of them at all. It has been said that nearly one in every 700 babies in the US will be born with Down Syndrome. That number makes it the most common chromosomal condition.
There are three types of Down Syndrome.
1. Trisomy 21 (nondisjunction). Down syndrome is usually caused by an error in cell division called “nondisjunction.” Nondisjunction results in the embryo having three copies of chromosome 21, rather than the usual two. Prior to or during conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate. As the baby develops, the extra chromosome is replicated in every cell of the body. This type of Down syndrome,in most common and accounts for 95% of cases.
2. Mosaicism (or mosaic Down syndrome) is diagnosed when there is a mixture of two types of cells. some of the cell will contain the normal 46 chromosomes and some will contain 47. Those cells with 47 chromosomes have that extra chromosome 21. Mosaicism is the least common form of Down syndrome and accounts for only about 1% of all cases of Down syndrome. Research has shown that those with this type of Down syndrome can have fewer characteristics of Down syndrome.
3. Translocation. This type of the Syndrome accounts for only about 4% of cases of Down syndrome. The total number of chromosomes in the cells remains 46. However, an additional full or partial copy of chromosome 21 will attache to another chromosome which has been found to usually be chromosome 14. The presence of the extra full or partial chromosome 21 causes the characteristics of Down syndrome.
The cause of Down Syndrome is still unknown at this point. We know what happens, but we don’t know what causes the chromosomal abnormalities. The only thing that has been linked is advanced maternal age. After the age of 35 your chance increases to 1 in 350 births and continues to increase from them. At the age of 20 your chance is 1 in 2000 births. There is a slight link with heredity but even then your chance is only about 1% to have a second baby with Downs.
As people with any condition there is a change for life altering complications. Babies(older children and adults) lives can be complicated by heart defects, leukemia, infectious diseases. They tend to have a low immune system so this puts them at a higher risk for pneumonia and other illnesses. They can also develop seizures, dementia/Alzheimer’s at an earlier age than most, sleep apnea and obesity.
As for the treatment of Down Syndrome, it will vary from baby to baby and depend on the degree of the Syndrome. Most babies will need therapies (physical therapy, occupational therapy or even speech therapy along the way. And some will require special education when they get to be school aged. And as far as medical care it will depend on the baby. Many will require heart surgery at some point. Others won’t require any special treatment. There are also a lot of support groups, both in-person and online for the mom and families. These will give the families other to talk to who have been through a similar situation. The better understanding and treatment for these babies has greatly increased their life expectancy. In 1910 people with Down’s had a life expectancy of only 10 years. Now with the advancement in care and understanding of the condition the life expectancy has increased by 50 years. And it is though that a person with Down Syndrome can live to be 60 years old. And I’m sure as more research is done that this will only continue to increase.
I have only provided you with a brief description and treatment options for this condition. But there are TONS of great resources that can be found online. I will place the resources I used to write this at the bottom of this post.
Help me spread the word about Down Syndrome on this World Down Syndrome Awareness day.