Parenting in Down syndrome

Down Syndrome

 

We all are very well aware that our DNA is like this humongous blueprint of information on how to make a human. Usually, this massive document is packaged up nicely into a storage bin called a chromosome. We have 46 chromosomes that have all the information very well organized. The number of pairs is 23! But what if it’s not 23 then, any change in number or composition leads to a complete change in genetic makeup. Let’s understand what happens with down syndrome. Chromosomes split and then combine with chromosomes from another parent. Down syndrome chromosomes don’t separate to combine with others leading to Nondisjunction. This is in 95% of cases of down syndrome. Another condition leading to this can be translocation, which means one part of the chromosome moves and switches places with a part from another chromosome. 

Chromosome 21 gets translocated with chromosome 14, but this is only in 4% of the cases of down syndrome. In the other 1%, there is a mosaic gene which means that cells are mixed. It’s like half of the body will have 46 chromosomes and the other half will have 47.

 

Down syndrome is the most common condition that occurs in mankind. One out of every 733 babies that are born has down syndrome. Many parents say that extra chromosomes bring extra patience, love, and perseverance. The prevalence of Down syndrome leads to co-occurring medical conditions so it’s better to visit your family physician or any general physician clinic for better planning. 

 

Types of Down Syndrome 

 

There are three types of down syndrome:

 

Trisomy 21

 

About 95% of cases of Down syndrome are associated with down syndrome and are related to trisomy 21.

 

Translocation 

 

This occurs in 3% of cases of down syndrome. A whole extra chromosome is present. In other words, chromosome 21 is present but it is attached to a different chromosome rather than being a separate chromosome. 

 

Mosaic 

 

It means mixed and the occurrence is about 2%. Some cells have three copies of chromosome 21. The other cells have normal two copies. The feature of this is the same as trisomy 21. 

 

Risk Factors and Complications of Down syndrome

 

Extra chromosome 21 leads to complications and affects other organs of the body. Take advice from your family physician before planning pregnancy. Life expectancy decreases because of complications. 

 

Age of the mother: If you are planning to have a baby before your twenties or late in your forties. Think before as your child might get down syndrome. Consult your general physician

 

Heart: This leads to septal defects between the atria. Approximately 50 % of people who have down syndrome suffer from a heart condition 

 

GI Tract: Duodenal atresia is a genetic condition of improper development of the duodenum. This can be deadly if not treated on time. The babies should get immediate surgery for the same. The outcomes according to the data are excellent. 

 

Blood: Acute lymphoblastic leukemia is a cancer of blood and bone marrow. It progresses rapidly and slowly. It is a deadly condition if not taken proper treatment. 

 

Brain: Mental retardation Alzheimer’s disease. People have an IQ in the moderate-to-low range and difficulty in speech. This needs special attention in schools and learning the academic and co-curricular activities. 

 

Reproductive System:  Male sterility in down syndrome is still not explained. There is no valid reason to explain the condition. While it found that down syndrome females are fertile or subfertile. There is a direct or indirect effect on the spermatogenesis of down syndrome. 

 

Physical characteristics: Simian crease gap between first toes, flat facial profile, epicanthal fold. They have a flatter face, almond-shaped eyes, short neck, and small eyes. Protruding tongue and white spots on iris. Down syndrome affects the  muscle tone and hands of the baby. There is a single palmar crease and pinky finger. 

 

Down syndrome has many complications but improved medical care can lead to longevity and increased quality of life. 

 

Diagnosis of Down Syndrome

 

Screening tests during pregnancy are done which suggest that there is down syndrome during your pregnancy. 

Blood test:-

Decrease in Alpha-fetoprotein (AFP) 

Decrease in unconjugated estriol (uE3) 

Human chorionic gonadotropin (HCG) 

 

This is in comparison to normal levels during pregnancy. Tight monitoring is very important for general physicians to know about down syndrome. 

 

Imaging is another method to diagnose this. This includes ultrasound where the general physician looks for nuchal translucency. During the ultrasound, the general physician looks for the fluid behind the baby’s neck. It indicates genetic problems. 

 

Diagnostic tests help to detect if a baby will have down syndrome or not. The disadvantage of this test is that it is risky. Chorionic villus sampling (CVS) examines the material from the placenta. 

Amniocentesis examines the amniotic fluid that further tells about the genetic makeup of the child. Percutaneous umbilical blood sampling (PUBS) examines the blood umbilical cord. This test indicates the changes in the chromosome which would indicate the down syndrome diagnosis. 

 

They may not be exact indicators but they do provide enough information to take a step closer!

 

Treatment of Down Syndrome

 

There is no particular treatment for down syndrome. There are only therapies that can help your child. Medical care can be given to increase life expectancy. Therapy like physical, occupation, and speech therapy. Social and other physical activities can help your child to live a better life. Consult your general physician. 

 

Parenting a child with Down Syndrome

 

It’s tough being parents, especially in this world were right from their schooling, co-curricular, and career choices the world is competitive! Parenting is a task and when you have a child with down syndrome, it becomes tougher. A child with down syndrome will undergo a lot of medical complications and treatment. This will not only hamper his life but in many, this will hamper yours as well. Now the thing is can you still love this child? 

Putting it straight, yes! Take a flashlight and shine it in a dark universe and illuminate a single particle that forms your entire context for the universe as you see it now. But now think how larger the universe can become and how many more unknown things you can discover if you took a step of faith! Parenting a down syndrome child can help you discover new horizons in life. As a parent, you might accept a lot from your child but a child with down syndrome will give you satisfaction and patience. The disability does not define an individual, it’s love, joy and beauty in the simple act of existing things. 

Things you can do as a parent are very simple and can help them in the long run. Always encourage your child as this will put him in a psychological condition to improve and do better. Be patient with your child. This is the key to being a good parent. There are therapies to help your child learn better. Ask teachers to help him and create an environment where he can also make friends. 

Online consultation with your general physician can help you monitor your child on a regular basis 

 

Socially Constructing Down Syndrome

 

I have one more chromosome than you, so what? 

 

Let’s accept that it is natural and not infectious. Down syndrome is a condition that is by birth and thus nobody can help it. There are only markers for down syndrome. By treating them unequally we make it tough for the parents as well. Instead one must be cooperative and not show pity. So it’s high, let’s start accepting and make a better place for everyone to live! 

 

Synopsis 

Down syndrome is a genetic problem. It is a trisomy of chromosome 21. We all are very well aware that our  DNA is like this humongous blueprint of information on how to make a human. Lack of separation of the chromosome or translocation can lead to extra chromosomes. 

 There are three types of down syndrome trisomy 21, mosaic, and translocation. The first two have the same signs. Risk factors and complications of down syndrome include male sterility, acute lymphoblastic leukemia, GI problems like duodenal atresia, low IQ, and physical characteristics like simian crease gap between first toes, flat facial profile, epicanthal fold. They have a flatter face, almond-shaped eyes, short neck, and small eyes. Protruding tongue and white spots on iris. Down syndrome affects the muscle tone and hands of the baby. There is a single palmar crease and pinky finger. Diagnosis includes screening tests and diagnostic tests. Screenings tests are done which suggest that there is down syndrome during your pregnancy. 

Blood test:-

Decrease in Alpha-fetoprotein (AFP) 

Decrease in unconjugated estriol (uE3) 

Human chorionic gonadotropin (HCG) 

 

Imaging is another method to diagnose this. This includes ultrasound where the general physician looks for nuchal translucency. During the ultrasound, the general physician looks for the fluid behind the baby’s neck. It indicates genetic problems. 

Diagnostic tests help to detect if a baby will have down syndrome or not. The disadvantage of this test is that it is risky

Things you can do as a parent are very simple and can help them in the long run. Always encourage your child as this will put him in a psychological condition to improve and do better. Be patient with your child. This is the key to being a good parent. There are therapies to help your child learn better. Ask teachers to help him and create an environment where he can also make friends. 

Social stigma about down syndrome exists. We as a society have to deal with and pull it off. 

 

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