Down Syndrome
What is Down Syndrome?
Genes contain the codes responsible for all of our inherited traits and are grouped into a spiral structure called chromosomes. The nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent, allowing the genetic material of each typical individual to be organized into 46 chromosomes.
The egg and sperm each have 23 chromosomes. At the moment of fertilization they meet to unite in an embryo with 46 chromosomes. A person with Down syndrome has one more chromosome in the 21st pair, thus having 47 chromosomes in total.
A chromosomal disorder
Down syndrome is not a disease but a chromosomal disorder. This syndrome accompanies the fetus from conception to lifelong. There is no scientifically proven cause of this change in chromosomes in number. Since Down syndrome is not categorized as a disease it does not make sense to say that there is a cure for it. Fully diagnostic test for Down syndrome is the karyotype which is done through a procedure called amniocentesis (taking and analyzing amniotic fluid), which is done at a certain period during pregnancy. The karyotype is also the analysis that is done to the baby when doctors suspect the presence of Down syndrome directly after his birth. Today in the world statistics show that 1 in 691 living births are with Down syndrome, thus making it one of the most encountered chromosomal disorders in the world. It is not related to race, nationality, religion or socioeconomic status.
Delays in the mental and physical development of the individual
The presence of this extra chromosome brings delays in the mental and physical development of the individual. The most important fact to know about individuals with Down syndrome is that with proper care and therapeutic support from an early age, these individuals can reach their full potential, a fact that leads to the ability to live a life long, inclusive and independent, ie to be an active part of the community where they live. On the other hand, we should be aware that individuals with Down syndrome also have talents and talents in various fields, such as art or sports, so their parents are suggested to try them and create opportunities for them to ‘spotted and developed these talents
We are the same
Although it is said that, people with Down syndrome can not achieve normal goals in life, with the right support, they can. Most individuals with Down syndrome learn to walk and talk, and many are already in public school, passing exams and living a life like everyone else, or semi-independent as adults.
Although people with Down syndrome are said to have the same appearance, they may have all or none of these physical characteristics. A person with Down syndrome may look more like a relative of his or her biological family than someone else who has the same syndrome.
Although it is said that people with Down syndrome are always happy and very loving, we are all unique and people with Down syndrome are no different from anyone else in their personality traits or fluctuating moods.
Statistics
Down Syndrome Albania Foundation, in cooperation with the Department of State Social Service, at the Ministry of Welfare and Youth, provided for the first time the complete statistics of individuals with Down syndrome who are part of the scheme of the Medical Commission for Determining the Ability to Work (KMCAP). Currently, in Albania, according to this scheme live 643 people with Down syndrome.
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