Down Syndrome

Down Syndrome: Symptoms, Types & Treatment

What Is Down Syndrome

DS or DNS is the abbreviation of down syndrome. This is a genetic disorder. Our human body is made of millions of cells. Cells contain a nucleus. It is the control center of the cell. Chromosomes are present inside the nucleus. Chromosomes play a vital role in cell division and genes transfers. Our inherited characteristics are transferred to us through these chromosomes. So a normal person has 46  chromosomes in each cell. On the other hand, sometimes a person has an extra chromosome. That extra one causes down syndrome. It was first discovered in the late nineties.

 

Down Syndrome Baby

This extra chromosome makes the development process slow. Down syndrome is visible since birth. The babies with this disease usually have flat features with small eyes and weak muscles. Babies with down syndrome are born like a normal child with normal weight. However, their development is slower, as compared to a normal child.

Down Syndrome Baby

Moreover, they have digestive issues. Although down syndrome is not completely recoverable, but situations can improve. These babies can become an active participant in society with a strong will and hard work. 

This syndrome is common in America. About one in every 700 children has this syndrome — moreover, 6000 babies are born with down syndrome in America every year.

 

Types Of Down Syndrome

There are three types of Down Syndrome.

  • Trisomy21: This is the common most down syndrome. In this, each cell has one extra copy of chromosomes. It is called Trisomy21 because there are three copies of chromosome number 21 instead of 2. Likewise, a cell has 47 chromosomes, instead of 47. This extra makes the development process slow. The extra chromosome is either in a sperm or an egg and is not separated. About 95% of the down syndromes are trisomy21.
  • Translocation: In translocation, chromosome breaks, and this broken one is attached to another chromosome. This presence causes characteristics of down syndrome. About 5% percent of the down syndrome is translocation.
  • Mosaicism: This is the least common type of chromosomes. In this, the extra chromosome is present in some of the cell preferably all. As some of the cells contain 46 and others contain 47 chromosomes.

 

Down Syndrome Symptoms

Down Syndrome Symptoms

 

This Down syndrome can affect the patient mentally or physically. It is very different for every person. For some, it is mild or moderate, but for others, it is severe. Following are some of the physical and mental symptoms.

Physical Symptoms are :

  • Small almond-like eyes
  • Folded little ears
  • Flat face and features
  • The tongue which always sticks out
  • Tiny white spot on the colored part of the eye
  • Low muscles tone and small neck

 

Mental Symptoms

People with down syndrome have slow mental development. Their ability to think, understand, and the reason is more time-consuming than usual people. They walk, crawl, and talk later than normal people. They need special attention in school to read and write.

However, whatever the symptoms are, down syndrome`s negative effects can be reversed to some extent.

 

Down Syndrome Test

Most of the obstetricians and gynecologists in America recommend down syndrome test during pregnancy regardless of age. Usually, it occurs when there is a history of DS in the family, especially at the male side. Moreover, blood tests is the option to check the probability of down syndrome. In the case of some positive results, more tests are done. 

Down Syndrome Test

CVS is the other way to diagnose. In CVS, cells are taken from the placenta to check the extra copy of fetal chromosomes. DS tests can be done after birth.

Sometimes babies are born with DS physical features, but in reality, they don`t have down syndrome. So chromosomal karyotype is an option to make sure about DS. Fish is another type of test which diagnoses DNS after birth.

 

Down Syndrome Treatment

Treatment of DNS is different for everyone. However, this treatment should start at an early age. There is no proper treatment for this disease. However, we can reduce the effects and make them some responsible citizens through these actions:

  • Speech therapy and physical therapy should start at an early age.
  • People having this problem faces emotional resistance from themselves as well from people around them. They should have regular behavioral therapy in order to cope with emotional behaviors.
  • Occupational therapy is best to make them positive participant of the society. This therapy helps in refining motor skills to make daily tasks easy.

Moreover, there are special schools for children facing DNS. They do handle the need of such students with specialized equipment. There is a first reading and speech therapist. Getting help from them will raise the child in a better way.

 

Down Syndrome Facts

There are some universally accepted research findings regarding down syndromes.

  • DS is a condition rather a disease.
  • More than 400000 people are living with DS alone in America.
  • The average life expectancy of such a person is 60 years now; however, until 1983, it was 25 years.
  • It is not due to environmental factors. The only known factor is Maternal age.
  • This ailment cannot be prevented. However, its risk is controllable to an extent. Mothers can get folic acid during pregnancy.

 

Down Syndrome Pregnancy Test

There are two types of tests to test the DS during pregnancy.

  • Screening test tells chances of DNS. However, it is not sure yet. This just shows chances of the disease.
  • Diagnostic test: this test makes sure of DS. Cvs is the test which takes a sample of the cell a then confirms results of screening tests. We can consider its result authentic.

Please Read Our More Detailed Article: Pregnancy Calculator Guide For Pregnant Women

 

Conclusion

DNS is a common genetic problem. America is the country with the most population of DNS. We can`t control its possibility. However, what we can do is its effective treatment to make sure of their active participation in society.

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