Down syndrome is a genomic pathology. With this pathology, the patient's karyotype has forty-seven chromosomes due to trisomy in the twenty-first pair. True, other forms of this syndrome are possible. As a rule, they are caused by the detrimental effect of the twenty-first pair of chromosomes on others.
The first description of Down Syndrome dates back to 1866. As many have already guessed, it is named after the doctor who carried out the diagnosis. The disease was described, but its causes were established only a century later.
Down Syndrome: Symptoms
There are actually a lot of symptoms and signs. Key features:
- shortened skull;
- a face of a flat shape;
- children in the neck have a skin fold;
- earlobes are underdeveloped;
- muscle tone is reduced;
- the nape is flattened;
- short limbs;
- Underdeveloped middle phalanges of the fingers;
- Anomalies in the development of teeth;
- the sky has the shape of an arch;
- little fingers are twisted.
This is by no means an exhaustive list, as Down Syndrome has many more symptoms.
More rare symptoms:
- grooves in the tongue;
- flattening on the nose;
- folds on the palms;
- wide but short neck;
- squint;
- Congenital heart defect;
- chest deformity;
- congenital leukemia and so on.
Down Syndrome: Diagnosis
Only analysis of the karyotype makes it possible to accurately diagnose this syndrome. Clinical signs can only help to suspect, but not to confirm the disease. Diagnosis of Down syndrome should be carried out in a timely manner.
The syndrome in question is actually very, very rare. This is approximately one case per seven hundred births. Today, prenatal diagnosis is used, which means that the number of incidents has become even less (about one in a thousand and a hundred).
This is not to say that more boys or girls with Down syndrome are born. Sex in this case has absolutely no meaning. It is a fact that Down Syndrome becomes more likely when the mother reaches a certain age. This age is thirty-five years. Statistics say that the probability of having a sick child at that age is one in four hundred. After forty-five years, the probability increases again - one in thirty-two. Just note that the age of the father has absolutely nothing to do with it.
Diagnosis is also important for the reason that it can determine the likelihood that a second child with these same parents will have Down syndrome. In most cases, the probability is only one percent.
Down Syndrome: children
Children with this syndrome are far behind their peers in development. They cannot move normally, talk, cannot express themselves logically. Of course, this is not about all at once, since many cases are truly unique. The development of the child largely depends on how much time the parents devote to him. There are many methods that can develop a child very well. It’s good to talk, read, communicate, eat independently - all of this is taught.
The modern approach to adaptation, training, as well as to caring for patients who have Down syndrome, allows not only to help them at least somehow adapt to the outside world, but also to live much longer. It is worth noting that today the life expectancy of people with this syndrome is fifty years.
Down Syndrome makes men barren. The probability that a woman will be able to have children is fifty percent. Often, patients marry others like themselves. This allows them to somehow integrate into society. These marriages are specific, but still, as a rule, very strong. Some manage to live a really happy life.
Eighty-five percent of children with Down syndrome remain in maternity hospitals.