In short, it is the state of having an extra chromosome. Humans have 21 pairs of chromosomes. People with Down syndrome have an extra pair of chromosomes, either as a result of a genetic disorder or due to genetic differences. This is the short answer to the question of what does Down syndrome mean .
Many people may think this condition is a disease. However, this situation is a genetic difference.
Although this condition is not a disease, people with Down syndrome have a lower development than other people. This situation brings with it the risk of developing many diseases.
It occurs once in every 800 births worldwide. It can be seen in every society, every country and every culture. So this difference has nothing to do with backwardness.
People with the syndrome need more care and attention than other people.
Down Syndrome Symptoms in the Womb
Some tests need to be done for this. In addition, some symptoms that can only be interpreted by doctors are checked on ultrasound images. Symptoms of Down syndrome in the mother’s womb can be detected with the application of some genetic screening tests.
This syndrome arises as a result of an error in cell division. Worldwide, this situation can be detected in the mother’s womb with double and triple screening tests.
This syndrome can be detected by performing a triple screening test performed at 15-20 weeks of pregnancy. In some cases, symptoms of the syndrome may not be seen in these tests, although rare. In this case, samples are taken from the amniotic fluid that the baby is in. This method, called amniocentesis, is applied at the 14th week of pregnancy and gives precise results.
Detection in the Mother Womb with Ultrasound
Another screening method is ultrasound. This method is used to detect the syndrome with an accuracy of 80%. However, according to some experts, the accuracy of the tests mentioned above is more precise than ultrasound scanning.
Down Syndrome Detection with Nuchal Thickness Test
The syndrome can be detected by imaging techniques from some developments in the baby at 20 weeks of pregnancy. One of these tests is the nape thickness test. During the periods we mentioned, the thickness of the pregnancy is compared according to normal criteria and it is checked whether there are findings.
Exact result with DNA test
Today, DNA test is used especially in criminal crimes. It is also an effective method in determining paternity testing and some diseases.
This method is also used frequently in detecting Down syndrome and it can be detected with very little margin of error.
The DNA test (prenatal screening test) performed in the mother’s womb is done by sending the blood samples taken to research centers abroad. Currently this test is quite expensive. That’s why we can’t say it’s very common. However, it is stated by medical authorities that the prices of these tests will decrease and become more common in the future.
How Many Chromosomes in Down Syndrome
The number of chromosomes in a normal person is 23. The number of chromosomes in the sperm is separated after falling into the uterus and a normal birth occurs. The question of how many chromosomes in Down syndrome can be answered as 47. The reason for this is that the 23 pairs found in the sperm are 24 pairs and the chromosome number is 47. In other words, babies with the syndrome have one more chromosome than normal babies.
Down Syndrome Treatment
Until now, no treatment method has been found to eliminate the difference. With the development of gene engineering in the world, many diseases can actually be treated. However, down syndrome is not included in this situation.
There is no cure for Down syndrome yet. However, some treatments are necessary for people who have this condition, which is a genetic difference, to adapt to life. We will talk about these treatments.
We use the word treatment here, because people with the syndrome are not normal individuals and are sensitive to many situations. Therefore, their diet will also be different.
They have a tendency to gain excessive weight. This situation can be prevented with a balanced diet program. In addition, their metabolism is sensitive to many nutrients. Therefore, a nutrition program should be prepared under the control of a specialist physician and this program should be strictly followed.
Physical Therapy Applications
After the difference is determined, they should be subjected to a lifelong rehabilitation and culture physical program, with the guidance of your doctor. The development of people with the syndrome lags behind. Muscles perform their normal functions lacking. That’s why they need to be reinforced.
Simple but effective movements that can be applied at home can also be applied. One of them is the gesture of touching the tongue. Ice rolling around the mouth and lips is another effective movement.
Regular massage can also help strengthen and recover muscles. However, we cannot talk about a complete recovery. It would be more correct to say that it only makes their lives easier.
Level of education
People with Down syndrome have a lower IQ than a normal person. That’s why they can’t go to schools where normal people go. Even if they go, there is a great incompatibility.
Therefore, there should be special training places and programs for these people. Today, there are enough educational places and programs for people who already have Down syndrome.
In these trainings that started as a baby; Help is received from staff specializing in technical fields such as psychologists, therapists, and social workers.
Children who have the syndrome can establish very good relationships with their peers. He has no problem making new friends. However, attention should be paid to mental traumas. They are affected very quickly and maximum attention should be paid in this regard.
Their education is not like normal people at later ages. For example, we cannot expect them to be an engineer. However, we can provide an education that can meet their lives and needs at a high rate.
In the business world, there are jobs that people with down syndrome can do. There are even cafe-style businesses run by them.
Causes of Down Syndrome
Many scientists conducted research to investigate the cause of this situation, which has become widespread worldwide. However, they could not reach a definitive conclusion. Considering about 6 million people with Down syndrome around the world, it will be understood what we mean.
While the causes of Down syndrome are not known for sure, one thing is for sure. That is, the fact that women give birth after the age of 35 increases this risk.
Having only one extra chromosome seems to be a coincidence. This extra chromosome has 3 different ways of being. This makes the situation more complicated. For example, in the case called Translocation, chromosome 21 breaks off and merges with another chromosome pair. This situation seems to tell us that there is an inherited error. However, births made in this way are only around 3%.
As genetic engineering continues to evolve, the exact cause of this condition will become apparent. Thus, it can be understood what caused this difference in the near future and how it will be eliminated.
But what we can do for now is how we can help people who have this condition. Especially mothers and fathers have a lot of responsibility in this regard. Many families believe that their babies are born with defects and see this as a disaster.
However, people who have this condition caused by genetic differences are very special. It is necessary to look at the event from this perspective. Let’s not forget that these people have one more chromosome than us.