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What Causes Down Syndrome? An Illustrative Guide!

29th February 2024

Most disabilities are lifelong and also have the potential to reduce longevity. People with Down syndrome can, however, have happy, healthy lives. There are several options to assist in overcoming the difficulties associated with Down syndrome thanks to recent medical advancements as well as institutional and societal support for individuals with the disease and their families. If your child is diagnosed with Down Syndrome and you are not sure where he got it from, keep reading on for valuable insights.

What Is Down Syndrome?

The genetic disorder known as Down syndrome results in modest to severe physical and developmental issues. An extra chromosome is present at birth in those who have Down syndrome. Genes are bundled into chromosomes, and the proper quantity of these bundles is essential for proper bodily function.

This extra chromosome causes a variety of problems that impact your body and mind when you have Down syndrome. The reason for this abnormality is not always evident. Although specific risk factors for Down syndrome have been established and there is one variant of the illness that can be inherited, most occurrences of the disorder develop randomly when sperm fertilizes an egg.

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What Are The Causes Of Down Syndrome?

Before conception, a misdivision in the sperm or the egg might result in trisomy for a particular chromosome, such as for 21. The precise mechanisms behind each of the three forms of trisomy 21 vary slightly.

These three forms include:
 

• Complete Trisomy 21

Meiosis is the process by which chromosomes align to divide and produce eggs or sperm cells. This particular kind of Down syndrome is non-disjunctional. Trisomy 21 is the cause of Down syndrome approximately 95% of the time. In other words, an egg receives two 21st chromosomes instead of just one. That egg contains three chromosomes in total after fertilization. This results from improper cell division that occurs when the sperm or egg cell is developing.

• Translocation Trisomy 21

A translocation occurs when chromosome 21 is duplicated twice, but additional material from a third 21st chromosome is joined (translocated) to a different chromosome. This kind of Down syndrome can occasionally be inherited and can manifest either before or after conception.

• Mosaic Trisomy 21

The rarest kind of Down syndrome is this one. It is distinct from the other two forms of trisomy 21 in that only a subset of cells carry an extra copy of chromosome 21, and it develops after conception for unclear causes. The traits of a person with mosaic Down syndrome are therefore less predictable than those of a person with full or translocation trisomy 21. Depending on which cells and how many of them carry a third chromosome 21, they could appear less noticeable.

What Role Does Genetics Play In Down Syndrome?

Research reveals that 15% to 30% of women with Down syndrome are capable of getting pregnant, and there is a 50% chance that they will give birth to a child who also has the condition.

There is just one kind of Down syndrome ‘translocation’ that is thought that Down syndrome is inherited. When a kid is conceived, a translocation that will eventually result in the child having Down syndrome frequently occurs in the parent. During cell division, a portion of one chromosome breaks off and joins another chromosome.

Three copies of chromosome 21 are produced as a result of this process, with one copy being joined to another chromosome, frequently chromosome 14. Since the 21st chromosome contains all the necessary genetic information, this aberration will not interfere with the parent's normal growth or function. This is referred to as a balanced translocation.

However, there's a potential that if someone with a balanced translocation conceives, the kid may end up with an additional copy of chromosome 21, leading to a Down syndrome diagnosis. A kid with Down syndrome resulting from a translocation has a higher chance of having further children with the disease from its parents.

It's crucial that parents of translocation children are aware that their other children may have the gene and may one day become parents to a kid with Down syndrome. A woman with Down syndrome who gets pregnant has a higher chance of giving birth to a kid who also has the disease, but she also has an equal chance of producing a child without it.

What Are The Risk Factors?

Some of the risk factors include:
 

• Advanced Maternal Age

Down syndrome cannot be brought on by environmental factors like chemicals or carcinogens, nor can it be brought on by lifestyle choices like drinking, smoking, or using drugs. Being over 35 is commonly referred to as advanced maternal age, it is the only known non-genetic risk factor for producing a kid with Down syndrome. That being said, having a child before the age of 35 is not a surefire way to prevent Down syndrome. Women under 35 give birth to over 80% of children with Down syndrome.

• Being Carriers Of Down Syndrome

The Down syndrome genetic translocation can be inherited by offspring of either sex.

• Having A Child With Down Syndrome

There is a higher chance of having another kid with Down syndrome if the parents of one child with the condition also have a translocation. Parents evaluating the possibility of having a second child with Down syndrome can be assisted by a genetic counselor.

Support A Child With Down Syndrome

Every family has happiness, worry, and difficulties, but things take on a somewhat different appearance when you have a kid with Down syndrome. Pursuing a Bachelor of Education in Special Educational Needs often helps as you get to understand the nitty gritty of the condition. In addition to balancing work, sports, music classes, and school, you usually have a lot of extra medical and therapy appointments. It is even more crucial to accept assistance when it is provided because of your requirements and your child's needs.

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Written By: Sanjana Chowdhury