Down Syndrome in Baby – Causes, Symptoms, Diagnosis & Treatment

Many couples want to know whether their child will have Down syndrome or not even before birth. Children with Down syndrome need special medical care depending on certain health problems.

The majority of people with Down syndrome live 60 years on average, but some live longer. It depends on various diseases, but usually – on heart disease. There is also a 30% chance of a miscarriage in cases with Down syndrome.

What is a Down Syndrome?

The disease was named after the doctor John Langdon Down. This syndrome is caused by a genetic anomaly, a random failure during the cell division process. Down syndrome indicates that there is a spare chromosome in the body. It influences the body and child development is not the best way.

As a normal, every cell of our body has 46 chromosomes, each of which contains an equal amount of the coded information from mother and father. A person with Down syndrome has one more additional chromosome, the development of which is still a mystery. Down syndrome doesn’t depend on parents’ social, national, or racial belonging, or on their lifestyle during pregnancy. Neither do ecology and food.

Children with Down syndrome can be born into a healthy family. This is genetics, not heredity. This is a choice of nature.

Children with this disease show signs of delayed development: both, physical and emotional. They are incapable of adjusting to life, and they will suffer from other various diseases, including heart and organ hearing and vision diseases. Statistics illustrate that 92% of women interrupted their pregnancies when their fetuses were diagnosed with Down syndrome, and 94% of women refuse to adopt these children. It means that there are only 6% of kids with the syndrome are surrounded by love and understanding.


How Common is Down Syndrome?

Approximately 1 out of 700-800 infants suffer from Down syndrome. In general, there are around 400 thousand people with Down syndrome in the US. Children with this genetic anomaly can be born in any family from a mother of any age. The disease doesn’t depend on gender either.

It is known that the older the woman the higher the risk to give birth to a child with Down syndrome. For example, at the age of 20-24 – the chances are 1:1000. At the age of 35-39 – 1:214. After the age of 45 – 1:19.

There is no one true explanation for that. The only thing supposed is that it is not the mother’s age that plays a vital part, but the age of her fertile eggs.

The most recent statistics show that the father’s age is also important. The risk is higher if the father is older than 40.

Is Down Syndrome Hereditary?

In the majority of cases (more than 90%), Down syndrome is presented by trisomy – a genetic form that is not hereditary.

Though, one of the parents can be a carrier of genetic material where the part of the 21st chromosome changed her places with the parts of other chromosomes. They don’t lose or duplicate the genetic material so they won’t alter the health of the parent. But when it will get to the next generation, it can influence the rebuilding – a misbalance of the 21st chromosome may appear – an excess – the Down syndrome develops.

What Causes Down Syndrome?

In 1958, French scientist Jérôme Lejeune discovered a true cause of the syndrome – an extra chromosome. The cells of the human body contain 46 chromosomes that carry the traits passing from generation to generation, from parents to children. Chronotype is the equal amount of pair chromosomes, male and female. Children with Down syndrome have an additional pair in the 21st pair. As a result, they have 47 chromosomes. This is the main cause of Down syndrome.

Down Syndrome Symptoms

There is a range of signs that are peculiar to Down syndrome. The most noticeable and frequently registered are the changes in the face and skull structure.

First of all is a flat face with a slightly singled out nose, mouth, superciliary arches, and other elements. The bridge of the nose is almost entirely flat. Very often the person with the disease will have a shortened skull (brachycephaly) with a flat occiput. Infants have a skin fold on the neck. Besides, the epicanthus is developed – a skin fold near the eye corner.

The proportions of the body are also changed. A small nose. A short wide neck. The big, often squint eyes. The limbs are disproportionately shorter than they should be, according to the body size. The fingers have underdeveloped middle joints; consequently, the hands are shorter. The little fingers are usually crooked. One of the main peculiarities is cross palmar fold; it can be noted in 45% of all children with Down syndrome and is considered one of the diagnostic criteria.

The body can’t function properly. People with the syndrome often have to deal with joint hypermobility and insufficient muscle tonus (in 80% of cases). As a result of hypotension, the mouth is opened most of the time. The face muscles are unable to keep the lips shut. In 65% of cases, teeth anomalies are present.

Keep in mind that the presence of one or a few of the signs described above doesn’t give you the ground to diagnose Down syndrome. A precise diagnosis can be established only after the genetic test.

Down Syndrome Diagnostics

Nowadays pregnant women can make use of various methods to exclude or establish Down syndrome. They are divided into invasive and noninvasive methods.

Invasive methods include chorion biopsy and amniocentesis (fetal fluid intake). These imply the entry into the womb using special tools.

Noninvasive methods are very simple, like ultrasonic scanning.

As a rule, it is noninvasive technologies that are used more commonly. For example, if there are some signs that indicate Down syndrome and they can be registered with ultra-scanning. Invasive methods are advised to those couples, who have higher chances of giving birth to a baby with Down syndrome (for example, if the parents or one of them is a carrier of the hereditary form of the disease).

The methods that need to use the tools to reach the womb inside are risk-bearing. They can harm both the mother and the fetus. Thus, the chance of a miscarriage is 0.5% when using amniocentesis and even higher when using chorion biopsy. Noninvasive methods are usually used at the end of the first trimester or at the beginning of the second one.


Down Syndrome Treatment

Down syndrome is not treatable. Probably, many people are shocked and terrified when they think that their children could be the ones with the syndrome. But there are lots of families who haven’t abandoned their kids. And they are happy. These kids also like to communicate, play, sing, and feel desired and loved.

After visiting the child centers of this type, the parents are usually amazed because there is definitely one bonus: the children with Down syndrome have an excellent memory, and especially visual one, calligraphic handwriting from the age of 5 or they are capable of painting marvelously.

You have probably heard about the boy in the Swiss institute for children with Down syndrome who began to speak Japanese fluently in six months of studying it? It is not a joke. These children are capable of the same things, and even bigger ones, if they are taken care of and feel supported. However, sometimes a baby with down syndrome becomes an unbearable burden for the biological parents. The adoption of a baby with down syndrome is still a rare case.

Read more to get motivated: Child Adoption – Conscious Option of Parenting

Tiger With Down Syndrome

By the way, have you met Kenny? In order to create a perfect white tiger with blue eyes, the US scientists decided to “put together” one, using the genes. But the Gene pool was so poor that the tiger was born with Down syndrome. Kenny is mentally disabled, is unable to do some physical activities, and is considered to be the first tiger with this syndrome. He is taken care of in a private zoo in the US.

In Conclusion

So let us be a little more patient and not afraid, let’s become merciful to those with Down syndrome. After all, it is not their fault that they were born like that. It is Mother Nature who made them. And they also deserve to be happy.