Down syndrome

Down syndrome

A disease that has thousands of people in the world. I’m talk about her scientifically, I talk about the personality of these people, about experiences, about their suffering in the midst of their lives, etc…

Down syndrome characteristics

The diagnosis is confirmed with a genetic test. The baby will develop similarly to a small baby who does not have Down syndrome, although at a slower rate. For example, for most babies with trisomy, social development is a strength and it doesn’t take long for them to smile and interact with others, while motor progress and language learning is more difficult. 

Children with Down syndrome have the motor development also affected. They are clumsier and less well-balanced  and may appear to be more sluggish (because of low muscle tone). In fact, they don’t walk until 20-22 months, on average, while children in general tend to walk as early as 13 months. 

Sensory development: Because motor development is slower, babies with Down syndrome may experience a delay in their ability to explore their surroundings. On average, it takes about six months to reach out and hold objects, compared to about four months for other babies. In addition, there are also sensory peculiarities, such as the refusal to feel their hands wet or dirty.

Childhood

Many children with Down syndrome study in regular schools or colleges and attend regular classes. Some need special classes in the subjects where they have the most learning problems. Their parents work with the child’s teachers and other professionals to develop a program that will best facilitate the learning process for each individual child. Children with Down syndrome also like to play, do sports and participate in different activities, such as music or dance classes.

Since children with Down syndrome look different, there are some children who pick on them and make fun of them. But kids with Down syndrome have feelings just like anyone else, and when someone messes with them, it hurts their feelings. Kids with Down syndrome want to be accepted and like to have friends. If you know a child with Down syndrome, you can be a big help to him or her by not making fun of them. Instead, shake their hand and give them friendly words of encouragement

Discrimination and Equal Opportunities

People with Down syndrome are not sick. Those with Down syndrome have intellectual disabilities and some particular physical features but that does not define them. Like anyone else, people with Down syndrome can develop in their areas of interest and have a full life. Some people with Down syndrome have more skills for some things and less for others, like anyone else. They just need a little help to get their rights, enshrined in the International Convention on the Rights of Persons with Disabilities, fulfilled.

These people suffer expensive discriminations every day, people think they don’t stand up for themselves and that’s why they are thrown out or directly not taken into jobs which they can do perfectly, even as children they don’t manage to reconcile with their classmates, in many cases they are insulted and not accepted in groups of friends, They are aware of this type of discrimination as any human being, they have a really bad time, there have also been cases like the one we will see below in which a young woman with Down syndrome was discriminated against and kicked out of the club because she had this syndrome, she was not accepted, perhaps because of her physical condition or because they thought it would cause problems in the club, both psychological and physical discrimination.

The Scientific point of view

People with Down syndrome have three chromosomes 21 in their cells instead of the usual two copies. During development, this difference in dose has important consequences for the functioning of the cells and the survival of the embryo. Thus, only about 20% of embryos with trisomies on chromosome 21 progress to a successful birth. The genome of people born with Down syndrome contains a low load of deleterious genetic variants and this means that the negative effects of having an extra chromosome 21 can be compensated for.

Since intellectual disability is the element of the overall phenotype of Down syndrome that is most concerned with its obvious consequences, there is an interest in knowing which genes or other elements on chromosome 21 are responsible for causing it. As we have seen, although the initial cause is in the aneuploidy proper to chromosome 21, this may have repercussions on the activities of other genes that are not on that chromosome. In any case, interest has initially focused on analyzing those genes that are sensitive to gene dose (dose-sensitive), and for this we must use both human genetics.

Personal experiences

Juliana Josefa Leal had one of the worst experiences of her life on February 13. The woman, 49 years old and with Down’s syndrome, went with her sisters to a commercial talk by Medisalud in a hotel in Motilla del Palancar (Cuenca). However, what was intended to be an activity to disconnect, ended up being one of the worst drinks she has ever had to go through and which still brings tears to her eyes every time she remembers it, as her sister, Ascensión Leal, explains to ABC. The discrimination against Juliana began when, once in the room where the talk was to take place, her sister Irene went to get a chair for her. Then, a commercial of the organizing brand suggested to these two sisters to take Juliana outside and attend only the two of them. “I went to the commercial and told him that if that was social discrimination against my sister. She said no, but she made the excuse that they had been presented with cases where they had become aggressive, something like that, when my sister is a docile person, she is calm, and doesn’t give any problems,” explains Ascensión Leal.

vocabulary:

Disease: A disorder of structure or function in a human, animal, or plant, especially one that produces specific symptoms or that affects a specific location and is not simply a direct result of physical injury.

Develop: Grow or cause to grow and become more mature, advanced, or elaborate.

Trisomy: A condition in which an extra copy of a chromosome is present in the cell nuclei, causing developmental abnormalities.

Strength: The quality or state of being physically strong.

Surroundings: The things and conditions around a person or thing.

Messes: A situation that is confused and full of problems.

Instead: As an alternative or substitute.

Encouragement: The action of giving someone support, confidence, or hope.

Sick: Affected by physical or mental illness.

Enshrined: Place (a revered or precious object) in an appropriate receptacle.

Themselves: Used as the object of a verb or preposition to refer to a group of people or things previously.

Deleterious genetic variants: Population genetic studies suggest that most amino-acid changing mutations are deleterious. Such mutations are of tremendous interest in human population genetics as they are important for the evolutionary process and may contribute risk to common disease.

Overall phenotype:

Overall: Taking everything into account.

Phenotype: Is defined as the physical and psychological characteristics of an organism from both genetics and environment, or a group of organisms having like traits. An example of phenotype is a group of organisms which are all affected in the same ways by nature and nurture.

Aneuploidy: The condition of having an abnormal number of chromosomes in a haploid set.

MARIA GARCIA RODRÍGUEZ 4tD – maria.garciarodriguez@plamarcell.net

 

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