Today marks the annual National Down Syndrome Awareness Day, which is celebrated each year on the 20th October. This day is celebrated country wide by Down Syndrome South Africa branches, who host various functions to create awareness around Down Syndrome.
During the course of the week, they go to various schools and companies and host talks to explain what Down Syndrome is how it is caused and also offer support to parents who have children with this condition.
“Peace, love, security and respect for human rights are the corner stones for human dignity and life, more so for persons with disabilities,” said Down Syndrome South Africa.
What is Down Syndrome?
Down Syndrome is one of the most common genetic birth defects. Usually, children born with this condition have some degree of mental retardation, health problems as well as characteristic physical features.
Some children exhibit only a few characteristics; others exhibit many. Because some of these features are also seen in people without Down syndrome, genetic testing must be done to confirm the diagnosis.
The most common features associated with Down syndrome include:
• Low muscle tone (babies appear “floppy”)
• Flat facial features, with a small nose
• Upward slant to the eyes
• Small skin folds on the inner corner of the eyes
• Small, abnormally shaped ears
• Single deep crease across the centre of the palm
• Hyper flexibility (excessive ability to extend joints)
• Fifth finger has only one flexion furrow instead of two
• Extra space between the big toe and the second toe
• Enlarged tongue that tends to stick out
What causes Down Syndrome?
According to the National Down Syndrome Society (NDSS), each cell in the human body contains 23 pairs of chromosomes, which contains the genetic material that determines all our inherited characteristics.
Humans receive half of each chromosome pair from the mother and the other half from the father. Individuals with the most common form of Down Syndrome, Trisomy 21, have an extra 21st chromosome.
Why this chromosome error occurs is still unknown, but it appears to be related to the age of the mother
According to research conducted, at the age of 25, a woman has a one in 1,250 risk of giving birth to a Down Syndrome baby. The risk increases to one in 952 at the age of 30, to one in 373 at the age of 35, a one in 106 at the age of 40 and one in 35 at the age of 45. However, 80% of children born with Down Syndrome are born to mothers under the age of 35. This means most babies, in general, are born to younger women.
It is advisable to consult with your doctor in the event of being pregnant or planning pregnancy if you have a family history of Down Syndrome, as there might be specialised tests that can be done to help you understand you’re your risk.
There are different types of Down Syndrome with the most common type being Trisomy 21. Approximately 95% of people suffer from this. It occurs due to an error in cell division which takes place before or at the time of conception. A pair of the 21st chromosomes in either the egg or the sperm do not separate properly which allows the extra chromosome to appear in every cell in the body, thereby causing the characteristics of Down Syndrome.
Mosaicism occurs in about 1-2% of all people suffering from Down Syndrome. The error in the separation of the 21st chromosome occurs in one of the first few cell divisions after fertilisation, causing the fetus to have some cells with 46 chromosomes and some with 47. The cells with 47 chromosomes have an extra 21st chromosome. Due to not all cells containing the extra chromosome 21, the range of physical problems varies depending on the ratio of cells with 46 chromosomes to those with 47.
The last type of Down Syndrome is referred to as Translocation, which occurs in 3-4% of babies born with Down Syndrome. A part of chromosome 21 breaks off and attaches itself to another chromosome. Often chromosome 21 attaches itself to chromosome 14, causing all cells within the body to have the extra piece of the 21st chromosome. When a child is born with translocation Down Syndrome it could be because one of the parents carrying chromosomal material which is unusually arranged.
Down Syndrome South Africa has regional branches and support groups country wide that are hosting activities to celebrate National Down Syndrome Awareness Day. These awareness days play a significant part in the positive shifts in attitudes towards people with Down Syndrome and other intellectual disabilities. Make a difference and show your support by wearing your blue “jeans” this week and purchase a “genes awareness sticker” for R10 in recognition of National Awareness Day.
Down Syndrome South Africa calls on all schools, government departments companies and the general public of South Africa to support this campaign during the course of October. Funds raised from this initiative will go towards supporting members in poverty stricken areas and providing support and services to those in need.
For more information or to make a donation, contact Ancella Ramjas, National Director at Down Syndrome South Africa on firstname.lastname@example.org or call 0861 369 672
VOC (Loushe Jordaan)