Help Mediwell spread the message for World Down’s Syndrome Awareness Day on 21 March
On 21 March, we commemorate World Down’s Syndrome Awareness Day. In modern society, Down’s Syndrome is still one of the most underfunded chromosomal conditions and this day we strive to give a voice to those who don’t have one.
DS has been in the world for centuries, but in 1886 John Langdon Down’s, an English physician, published the first real scholarly article about DS and was named the “father” of Down’s Syndrome. In 1959, the French physician Jérôme Lejeune identified Down’s syndrome as a chromosomal condition In the year 2000, an international team of scientists successfully identified and catalogued each of the approximately 329 genes on chromosome 21. This accomplishment opened the door to great advances in Down’s syndrome research.
What is Down’s Syndrome?
In every cell in the human body there is a nucleus, where genetic material is stored in genes. Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes. Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down’s syndrome occurs when an individual has a full or partial extra copy of chromosome 21.
Types of Down’s Syndrome
There are 3 main types of DS, but they all have their own characteristics within the specific condition.
- Trisomy 21 (nondisjunction): Down’s syndrome is usually caused by an error in cell division called “nondisjunction.” Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two. This type of Down’s syndrome, which accounts for 95% of cases.
- Translocation: In translocation, which accounts for about 4% of cases of Down’s syndrome, the total number of chromosomes in the cells remains 46; however, an additional full or partial copy of chromosome 21 attaches to another chromosome, usually chromosome 14.
- Mosaicism: Mosaicism (or mosaic Down’s syndrome) is diagnosed when there is a mixture of two types of cells, some containing the usual 46 chromosomes and some containing 47. Those cells with 47 chromosomes contain an extra chromosome 21.
Mosaicism is the least common form of Down’s syndrome and accounts for only about 1% of all cases of Down’s syndrome.
How do Doctors diagnose Down’s Syndrome?
Diagnostic tests that can identify Down’s syndrome include:
- Chorionic villus sampling (CVS).In CVS, cells are taken from the placenta and used to analyze the fetal chromosomes. This test is typically performed in the first trimester, between 10 and 13 weeks of pregnancy.
- A sample of the amniotic fluid surrounding the fetus is withdrawn through a needle inserted into the mother’s uterus. This sample is then used to analyze the chromosomes of the fetus. Doctors usually perform this test in the second trimester, after 15 weeks of pregnancy.
- Preimplantation genetic diagnosis: An option for couples undergoing in vitro fertilization who are at increased risk of passing along certain genetic conditions. The embryo is tested for genetic abnormalities before it’s implanted in the womb.
There are other tests that can be performed by doctors. You can see more of them here. Ask your doctor about the diagnosis of Down’s Syndrome.
Down’s Syndrome Treatment Options
This additional genetic material alters the course of development and causes the characteristics associated with Down’s Syndrome. A few of the common physical traits of Down’s syndrome are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the centre of the palm. Although each person with Down’s syndrome is a unique individual and may possess these characteristics to different degrees, or not at all. Down’s syndrome can also affect the heart, lungs, speech and also affects intellectual acuity.
A family living with somebody who has been diagnosed with DS will often refer to a team of doctors and specialists for treatment options, especially because the difference between individuals can be vast.
As part of the World Down’s Syndrome Awareness Day on 21 March and the #RockYourSocks campaign, we invite you to join in the initiative.
Wear your most colourful socks, donate to a Down’s Syndrome home or charity and spread the word about the condition. You can also contact Mediwell Dainfern Medical & Dental Centre to find out how you can help or bring your child for treatment. We will gladly provide you with all the information you need to give your family the best care possible.