Down syndrome, also called trisomy 21, is the most common type of genetic disorder . It is estimated that some 34,000 people with Down syndrome live in Spain, and a total of six million in the world . It is a genetic condition that, due to its prevalence, urges scientists around the world to find the reason and the cure for it since it was discovered that it was a chromosome alteration, back in the 50s.
What is Down syndrome?
In each cell of the human body there is a nucleus, where the genetic material in the form of genes is stored. Genes carry the codes responsible for all of our inherited traits and are grouped along rod-shaped structures called chromosomes. Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has an extra full or partial copy of chromosome 21.
As it is additional genetic material that alters the course of development and causes the usual characteristics of Down syndrome, we speak of a genetic disorder . Thus, a genetic disorder is a condition that a child is born with due to underlying genetic causes, errors, or the absence of genes.
It is a fact that the genetic material of human beings, DNA , provides the blueprint for how their structure should be and much more. Set down to the smallest detail to make sure every part is exactly like your parents. If an error occurs in the shot, the end result drifts, subsequently forming visible changes and altered bodily functions, such as low muscle tone, short stature, upturned eyes, and a single deep crease in the center of the palm of the hand. hand. But each person with this syndrome has their own unique characteristics . As the case of Down syndrome is a case of an additional chromosome, we speak of a trisomy. In this case, it’s trisomy 21 , which is why the syndrome is also known as trisomy 21 or trisomy 21. This extra copy can change the way the baby’s body and brain develop, leading to complications mental and physical for the child.
Is Down Syndrome a disease?
Down syndrome is a condition or syndrome, not a disease . People “have” Down syndrome, they don’t “suffer from” it, and they don’t “suffer from it.” Let’s dive into this:
A disease is defined as an abnormal condition that affects the normal function of the body, and sometimes the structure as well. In that regard, Down syndrome is not specifically a disease. In most cases, a disease is curable; it can occur and, with medical treatment, can be cured. The diseases are detectable, have definite signs and symptoms, and are also associated with some form of physical pain or “discomfort.” But in the case of a genetic disorder, it takes decades of research to simply identify what may be the cause or what the common symptoms are, and not all conditions are associated with pain. It can also be seen that in some patients the manifestations are different.
Down syndrome is a condition that a child is born with , and there are no necessary external factors that lead to the condition. It is simply the result of defective cellular mechanisms that were genetically transferred, unbeknownst to the parents and without being able to prevent it. All the existing literature refers to this as a genetic disorder or condition, as there is no serious effect on bodily functions or organ alteration, apart from changes in the external features of the child.
Types of Down Syndrome
Three different types are currently known : trisomy 21, mosaicism and translocation.
Trisomy 21 is the most common cause of Down syndrome, and consists of nondisjunction, a type of cell division defect. A nondisjunction embryo has three copies of chromosome 21 instead of the typical two. That is, a pair of chromosome 21, in either the sperm or the egg, did not divide before or during fertilization, and the extra chromosome is duplicated in every cell of the body as the embryo grows.
On the other hand, mosaicism or mosaic Down syndrome, consists of the affected person having a combination of two types of cells, some that have 46 chromosomes and others 47. In the cells that have 47 chromosomes, in this case, a extra chromosome 21.
As for the translocation , it only occurs in 4% of Down syndrome cases. In this case the total number of chromosomes in the cells is still 46, but an additional full or partial copy of chromosome 21 has joined another chromosome, usually 14.
Clinical manifestations
Clinical manifestations are the visible and detectable signs and symptoms that indicate or confirm a disease.
Physical signs of Down syndrome include upward-slanting, almond-shaped eyes, a thin neck, unconventional ears, and flattening of the face, especially the bridge of the nose. The tongue is also seen to protrude from the mouth, white specks are visible on the iris, and the hands and feet are small. Another conspicuous feature is a single line across the center of the palm, called the palmar crease. It should also be noted that both children and adults are shorter in stature.
Although people with Down syndrome may act and appear alike to one another, each individual has unique abilities. People with Down syndrome usually have a mild to moderately low intelligence quotient (IQ) and speak more slowly than normal young people. Other cognitive problems that can be seen are that they tend to be impulsive, have a slow learning ability, have a short attention span, and may have slow language or speech progress.
Risk factor’s
The mother’s age is a factor that increases the chances of having a child with Down syndrome. Women who become pregnant after age 35 are more likely to have a Down syndrome pregnancy than women who become pregnant at a younger age.
Family inheritance also counts as a factor in having a child with Down syndrome, that is, if someone already has Down syndrome in the family of one of the parents, or you already have a child with Down syndrome.
Diagnosis and treatments
There are two types of tests available to identify Down syndrome during pregnancy : screening tests and diagnostic tests. Screening tests typically use a blood test, which looks at the level of various compounds in the mother’s blood (for example, MS-AFP, Triple Screen, Quad-screen), as well as ultrasound, which assesses baby image.
Instead, diagnostic tests are primarily used to confirm a diagnosis of Down syndrome following a positive screening test. The following are examples of diagnostic tests: Chorionic villus sampling (CVS), Amniocentesis, Percutaneous umbilical blood sampling (PUBS).
Down syndrome is a lifelong condition. There are no treatment methods that can cure it, but early intervention can often help newborns and children with Down syndrome improve their physical and cognitive abilities. Most programs are geared towards helping children with Down syndrome reach their full potential, as although many children with Down syndrome are mainstreamed, they may need extra help or attention at school.
a reflection
I would like to share a reflection , paraphrasing Dr. José MarÃa Borrel, family doctor and father of a young man with Down Syndrome, for an article by the Spanish Down Syndrome Association.
There are those who, when approaching this issue, go to semantic questions, look for the definition of syndrome or disease in the RAE, to find that their answers do not satisfy their initial doubts. Sometimes the definitions are too short, other times there is a partial overlapping of concepts. But what interests us is not a purely semantic issue, but rather a more focused approach to medicine.
From there, we could also speak on different “levels” of Down Syndrome, for example from physiology, genetics, pathology,…
But it can be the case of a completely healthy person with Down Syndrome, that is, someone with the limitations of the syndrome only, what name do we give this?
With this, and knowing that this person despite everything has a certain limitation in their abilities and a smaller number of neurons, there are those who already have enough to classify the disease condition. But the point is that, for practical purposes, doctors do not treat Down syndrome, what we do is treat the pathologies that may be associated: heart disease, celiac disease, visual or hearing impairment, etc.
If the semantic question were clear, it would not give for millions of articles on the net about whether or not it is a disease. But if we want to achieve inclusion, acceptance and respect for people with Down syndrome, we can conclude that it is not a disease, but rather a genetic condition or even a genetic anomaly; it is one thing to normalize and another to deceive ourselves, in this way we remember that they are PEOPLE (having an extra chromosome does not expel them from their human condition) with a DIFFERENCE, and that they go to the doctor not because of that but because of added diseases, as we all do people.
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References:
Borrell, J.M. (2015, 5 de Noviembre). ¿Es el sÃndrome de Down una enfermedad? Down España. https://www.sindromedown.net/noticia/articulo-es-el-sindrome-de-down-una-enfermedad/Facts about Down Syndrome (2021, 6 de Abril). Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html#:~:text=is%20Down%20Syndrome%3F-,‌
Freepik (s.f.). World down syndrome day celebration Free Vector [Imagen]. Flickr. https://www.freepik.com/freepikRoizen, N. J., & Patterson, D. (2003, 12 de Abril). Down’s syndrome. The Lancet, 361(9365), 1281–1289. https://doi.org/10.1016/s0140-6736(03)12987-xWhat are common symptoms of Down syndrome? (2017, 31 de Enero). National Institute of Child Health and Human Development. https://www.nichd.nih.gov/health/topics/down/conditioninfo/symptomsWhat is Down Syndrome? (2022, 3 de Enero). National Down Syndrome Society. https://www.ndss.org/about-down-syndrome/down-syndrome/‌
