Down syndrome is a genetic difference that occurs as a result of extra chromosome replication in one of the chromosome pairs. However, the reason for the formation of this extra chromosome is not yet clear. There is no complete treatment of Down syndrome, which can be detected during pregnancy or postnatal tests. However, getting a training and integrative treatment methods are very important for individuals who develop the syndrome to have an independent and quality life. A child with Down syndrome can continue as a social, successful, professional and happy adult with an integrative treatment from a young age.
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People are born with 46 in total, 23 chromosomes taken from each of their parents. In some cases, however, an extra copy of one of the chromosomes in chromosome 21st pair is produced. As a result, some individuals have 47 chromosomes instead of 46, which is called Down syndrome. It is named after Doctor John Langdon Down, who systematically described and classified this condition. Down syndrome is not a disorder or disease. It’s a genetic condition.
The units that determine the genetic characteristics of living things are called chromosomes. Chromosomes are filamentous structures formed by DNAs wrapping around proteins. The transmission of various traits and genes from parents to children is ensured by chromosomes. During reproduction, 23 chromosomes come from the mother’s and father’s reproductive cells. Usually 46 chromosomes exist in human beings.
Although the exact cause is not yet known, one of the most important risk factors for Down syndrome is pregnancy at an advanced age. Generally, the risk increases in births after the age of 35 years.
Some studies have shown that paternity may also be important and that the prospective fathers over 40 years of age have a higher risk of having children with Down’s syndrome than younger fathers. Another risk factor is having a child with Down syndrome.
If you have a child with Down’s syndrome and you plan to have another child, it is recommended that you seek a genetic test for a possible risk of translocation.
It is usually not hereditary, which means that it does not pass from parents to children. Nevertheless, some researchers state that if one of the parents has Down’s syndrome, the child is at high risk of developing the syndrome. In Trisomy 21 and Mosaic Down’s syndrome, the extra chromosome copy is generated by a random genetic change and is not genetically transmitted. However, translocation can be inherited.
The mother or father who does not have this syndrome may carry an extra part between chromosome 21 and another chromosome, which is called balanced translocation. If this extra piece passes from parents to the child during reproduction, the balance in the translocation may be impaired and the child develops Down’s syndrome. Only 3% or 4% of individuals with Down syndrome develop the syndrome due to translocation.
There are also developmental delays and medical problems.
In addition, medical problems as follows can be seen:
It may cause some developmental delays, as well. Children may learn skills such as sitting, speaking, walking later. They may develop physically late, for example, problems in teeth development can lead to chewing problems.
In some cases, children with Down syndrome may also have autism or attention deficit and hyperactivity disorder. Retardation in intelligence may also occur in individuals with Down syndrome. The level of this retardation may vary from person to person.
In pregnancies after 35 years of age, if the baby’s father is 40 years of age or older, or if the family has a history of Down syndrome, the doctor may request an assessment. Screenings during pregnancy:
In some cases, additional tests may be required for the diagnosis. However, since there is a slight risk of miscarriage in these tests, the physician should give detailed information to all parents about the risks and recommend that it be performed only when necessary. These tests are:
After birth, the doctor performs a physical examination of the baby, and if the baby has Down’s syndrome, it is usually confirmed. However, in some cases, even if the baby has not developed Down syndrome, it may have physical characteristics of Down syndrome. In such cases, the doctor may recommend a chromosome test called a karyotype.
It cannot be treated because it is not a disease. However, it is possible to intervene in the problems caused by the syndrome with supportive treatment methods and special personal trainings; increase muscle strength and improve motor skills; improve intelligence levels; or support cognitive, emotional and social development.
Research shows that early-onset supportive treatment positively affects outcomes in children with Down syndrome. Support can be started shortly after the birth and continues to be shaped according to the needs of the age. Many different branches have to work together in the supportive treatment of Down syndrome.
The school is of particular importance for children with Down syndrome. They can catch up with their peers at critical developmental ages, which often apply to their peers, but learn more slowly in the process. An educational institution that understands their special conditions and approaches them patiently and supports them continuously is important for the development of these children.
As they can go to special education centers, they can also seek for supportive education programs such as speech therapy.
Like other people, people with Down syndrome want to live in a safe and healthy environment, communicate, socialize and have a role in society. Unfortunately, for many years, individuals with Down syndrome have been discriminated in the society.
Average life expectancy for individuals with Down syndrome has increased in recent years. They used to die at a very young age, while the expected life expectancy is now around 60 years old. However, there are many people with Down’s syndrome who survive until the age of 70.
Originating from the 3rd chromosome in the 21st chromosome pair, the 21st of March is designated as Down Syndrome Awareness Day to increase awareness about Down syndrome. People are told with the slogan“Just like you, +1 difference”that Down syndrome is not a disease, it is just a genetic difference caused by an extra chromosome.
You may be upset or frightened when you find out that your child has Down’s syndrome. You may not know what life awaits you, and you may worry about your ability to care for your child. The best way to overcome fear and anxiety is to learn and get support. The steps you can take to make life easier for you and your child are as follows:
References: 1- Down's syndrome, 2- Down syndrome, 3- What is Down Syndrome?