Down syndrome, a genetic disorder
Down Syndrome (SD) is a genetic alteration produced by the presence of an extra chromosome. Every being has a certain number of chromosomes, of a different size, which are grouped in pairs since half of these proceeds the sperm and the other half the ovule. The union of chromosomes is called karyotype, the karyotype in the human being is 46 chromosomes, specifically 22 pairs of chromosomes called autosomes and a pair of sex chromosomes. Chromosomes are small structures that are located in the nucleus of each cell, a chromosome is made up of thousands of genes, this genetic material is very important for the growth and development of every individual, a ‘normal’ child receives 46 chromosomes of its fathers. A chromosome from each pair, that is, 23 come from the mother and are in the ovule and the other 23 come from the father’s sperm.
Each person with Down syndrome is unique, and can suffer from some of the various health, learning problems, as well as the differences that can occur related to this condition. Some of the differences of people with Down syndrome are common and can be observed, such as facial appearance. Other changes that are less common and visible can cause problems or may require special treatments. "Special treatments" may include medications, or surgeries, it should be noted that there are no medications or therapies that can "cure" Down syndrome.
A better understanding of Down syndrome and early interventions can greatly increase the quality of life of children and adults who have this disorder that help them have satisfactory lives.
Body
It is a genetic disorder caused by the presence of an extra copy of chromosome 21, instead of the usual two, it is characterized by the presence of a degree of cognitive disability and very unusual physical features that give it a recognizable aspect, it is the cause is the cause more frequent congenital psychic cognitive1 and its name is due to John Langdon Haydon Down who was the first to describe this genetic alteration in 1866, although he never discovered the causes that produced it.
In 1978, Smith and Berg indicated that people with Down syndrome have a smaller height than the average although at birth its size is normal, before the first year their bodily appearance, it becomes more noticeable with the passing of the passing of the time, this is mainly due to the small length of its upper and lower limbs in relation to the trunk, which is normal size.
According to Cowie (1970), there is a deterioration of the tensile strength of the arms, a bad postural response in a ventral suspension position and a weak response to the stimulation of the patellar and Moorish reflex.
In 1982, Lambert and Ronald indicate that the average intellectual quotient of adult subjects affected by this syndrome is between 40 and 45, reaching in very few cases maximum quotients of 70, experience mental growth up to 30 or 35 years, although such growth It is very slow from 15 years of age.
According to Belmont (1971), Down Syndrome is not a disease, the effect that the presence of this alteration produces on each person is very variable, what we can affirm is that a person with Down syndrome will have some degree of intellectual disability and will show some typical characteristics of this syndrome.
In 1986-1987, Epstein points out the possibility that all these alterations are due to the existence of neuroanthomic or neurophysiological disorders, which originate directly from the development of a chromosomal imbalance.
Signs and symptoms of Down Syndrome
- Maxillary and palate hypoplasia that determines the protrusion of the tongue
- Short fingers with hypoplasia of the average phalanx of the fifth finger (lack of development of the average meñique phalanx).
- Marked muscle hypotonia (lack of strength in the muscles).
- Internal anomalies, mainly of the heart and the digestive system: defects of the ventricular septum, permeable arterial duct, atresia or duodenal stenosis.
From a psychological point of view, patients with this syndrome are very obedient, cheerful, they can make musical sense and do not tend to violence.
From the biochemical point of view, patients have a high level of blood purine He has children, the chances of transmitting the disorder to his offspring are 50%, that is, about 50% of his children will be normal, while the other 50% will suffer from Down’s syndrome due to the transmission of a 21 -surplus chromosome.
Researchers know that Down syndrome is caused by an extra chromosome, but nobody knows certainly why Down syndrome or how many different factors are involved, it can be said that one of the factors that increase the risk of having a Baby with Down Syndrome is the mother’s age, women who are 35 years old or more when they become pregnant, are more likely to have a pregnancy affected by Down syndrome than women who become pregnant at a lower age 35.
Down syndrome detection and diagnosis tests
Detection tests
- The tests of the first quarter, it is an analysis that measures the protein levels in the mother’s blood, if the levels are not normal, it means that there is great probability that he drinks to have Down syndrome, this exam is done Between 10-14 weeks of pregnancy
- Tests of the second quarter, here you look for three different substances that could be a sign of Down syndrome, it is done between 16 and 18 weeks of gestation.
Diagnostic tests
- Amniocentesis, a sample of amniotic fluid is taken, it is usually done between 15 and 20 weeks of pregnancy.
- Chorionic villi (CVS) sample, a sample of the placenta is taken, which is the organ that nourishes the fetus in the uterus, and is usually made between weeks 10 and 13 of pregnancy.
- Percutaneous blood sample of the umbilical cord, a blood sample of the umbilical cord is taken, it is done between weeks 18 and 22.
Test after birth
- Here the baby can be done a blood test to examine her chromosomes, this test says with certainty if the baby has Down syndrome.
Raising a child with Down syndrome requires a lot of time, effort and dedication, as well as patience and realistic expectations. It must be admitted that there is a big problem in society, in which they are treated as delayed and with an attitude of contempt and marginalization, there is no way that this does not affect parents whose children possess this disease, since those who have to help them overcome and prove to society that they are also beings, as human as us.
This is why it is vital that these children are first accepted within their solid and stable family that gives them love and belonging of professionals who create in them as people, and then as people with Down syndrome.
Down syndrome is not a disease, so it can be controlled, it is recommended that women during their pregnancy regularly go to the doctor and have control, because during this stage you can detect if he drinks brings a congenital evil and can act on time.
We should not exclude them from society with the mere fact of being different from ‘normal’ people, education is a fundamental part of people who suffer from this congenital evil, the family also plays an important role since for them it is not easy to deal with With a society full of prejudices and discrimination, let’s imagine, let’s get at the place of those parents, who day by day live with them that day by day they try to get ahead with that important member of the home, we do not hide it or be ashamed Having someone like that, the ideal would be to get to the integration of these people in society as citizens with all rights and with the need to help them so that they can self-use themselves.
Bibliographies
- https: // www.Healthychildren.org/spanish/health-issues/conditions/developmental-disabilities/documents/introduction_families_of_children_with_down_syndrome-spanish.PDF
- https: // www.Mayoclinic.org/es-es/designed-coundies/down-gondrome/symptoms-causes/
- https: // www.CDC.GOV/NCBDDD/SPANISH/BIRTHDEFECTS/Downsyndrome.HTML
- https: // www.Webconsultas.com/Syndrome-Down/Characteristics-Del-Sindrome-Dedown-2241
- https: // medlineplus.GOV/Spanish/Laboratory/Test-Sindrome-Down/Down/test/
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