Down syndrome is the most well-known chromosomal syndrome. However, such knowledge is mostly superficial. Therefore, it is important to provide rigorous information about it.
Their probability of appearance increases according to the age of the mother. Thus, when the progenitor exceeds 40 years, one in every ten children born presents it. Given that the prevailing tendency is to delay motherhood, there are sufficient reasons to think that the number of cases will increase in the future.
However, the latest genetic research is generating very positive feelings in this regard. This is the reason why the practice of amniocentesis is recommended in women over 35 years of age.
What is Down syndrome
Humans have two copies of each chromosome. In the case of Down Syndrome, an anomaly is detected on chromosome 21, since there are 3 replicas of it.
A healthy person has two copies of each chromosome. In the case of a Down Syndrome, something different happens in the cell division that occurs in the sperm and the ovum at the time of fertilization. In normal situations, each gamete gives a chromosome of each type with the aim that the new being has a pair of each chromosome. This process is known as meiotic division .
Now, the same process does not always occur in cell division. Three different phenomena linked to the abnormal chromosomal distribution have been detected, which will be mentioned below.
It is the most extreme case: the person receives a whole copy of more. Although its causes are still unknown, we do have the statistical certainty that there is a direct relationship with the age of the mother.
It is the second most common cause. If in free trisomy the chromosome 21 is completely detached, in the translocation it adheres to another, especially to the pair 14. However, the effect is the same, since the affected one still has an extra chromosome.
It is usual that when this phenomenon is observed, a study is made to the parents to verify if any of them was carrier of the translocation or if, on the contrary, this has originated in the embryo. Sometimes certain translocations do not cause damage, so the disease does not occur. The benignity of it depends on the genetic information that is involved.
Unlike the previous ones, it has been observed that the alteration occurs after conception. Therefore, the number of affected cells is lower than in the previous varieties, so that Down syndrome is usually less severe. All of them result in an enzymatic change that leads to certain symptoms.
- Frontal and occipital profile flat.
- Brachycephaly (smooth skull).
- Short neck.
Also, there is an anomaly in learning. It is necessary to perform a chromosomal study to confirm or rule out this phenomenon.
See also: Turner syndrome
Heart conditions are very frequent throughout their lives. First, 50% of those born with Down syndrome have congenital heart disease.
The most common is to detect a problem in the wall that separates the ventricles from the atria . This affects the pulmonary circulation, to the point that it is a frequent cause of infant mortality. However, in adolescence, it is the valves that are affected. Later, adults have a higher risk of atherosclerosis and hypotension.
Most patients develop vision problems. They may be due to both astigmatism and myopia. But there is also the possibility that a picture of congenital cataracts may appear. In view of the great frequency of these obstacles, it is recommended that periodic reviews be carried out. Vision is very involved in the learning process, so it is essential that we control this factor.
Occasionally, transmission hearing loss is observed ; that is, the sound wave does not arrive conveniently to the brain. However, this may come from an accumulation of earwax or waxy otitis. Again, the recommendations are made as in the previous case. It is necessary to monitor this issue, with the aim that the person is in the best conditions to learn.
Treatment of Down syndrome
There is no specific treatment. However, there are solutions for the pathologies that arise over time. In this regard, it is advisable to respect the scheduled revisions.
On the other hand, an early stimulation plan is essential, specifically during the first 6 years of life. This intervention will be an essential advantage for their development and autonomy. Thanks to this and the curricular adaptation, patients manage to overcome their studies and gain access to a job. For this, as we said, it is essential to meet their needs, always with the same goal: that they achieve the highest degree of independence possible.
Therefore, the most appropriate is to know the risks to which they are exposed and observe them, to adapt to them. The key is to individualize your training and monitor your physical health.