Birth Defects Post Pregnancy

Down Syndrome

Down Syndrome

Today we are going to talk about Down Syndrome among the various birth defects.

Go for a morning walk someday and try to observe people by walking in the garden. You will make a thousand stories on your own by looking at their faces and the weird expressions. That means you don’t really need to know an individual in person to draft a character of your own and then come up with your final verdict about him/her.

We can often become judgemental about anyone but at times even the guesses could come true. Therefore your face is the mirror of your character and personality and the best part is that it can communicate without any extraordinary efforts.

On the other side, why do we give those ugly and outdated looks, if we see anything uncommon on anyone’s face? Why do we behave strangely and try to maintain distance as if they’ll harm us just because they look different? Such defects are called “Down Syndrome“.

Down Syndrome

What is Down Syndrome?

Down syndrome is a genetic disorder where either of the parents contributes with an extra pair of a chromosome which leads to unusual repercussions in the child.

Causes of down syndrome

The main causes of the down syndrome are

  • Translocation

Only in 4% of cases down syndrome is translocation, part of chromosomes breaks off during division and attaches to another chromosome typically chromosome 14 while the total number of chromosomes in the cells remain 46, the presence of an extra part of chromosome 21 causes down syndrome.

  • Mosaicism

This happens when non-disjunctive chromosome 21 takes place in only one of the initial cells division after fertilization. There are maximum two types of cells the usual 46 and the other 47. Mosaicism accounts for about 1 % of all the cases of D/S.

  • Trisomy 21

This is a condition where a person has 47 chromosomes instead of the usual 46. The nucleus of each cell contains 23 pairs of chromosomes, half of which is inherited from each parent. Down Syndrome occurs when an individual has a full or partial extra copy of chromosomes 21.

Symptoms of the down syndrome

  • Facial attributes

The child may have an unusual facial structure where we can observe that the skin of the child is a bit loose and the tongue is usually long and even the structure of the finger is uncommon.

  • Deep crease in the palm

The diagram of the hands and the designing of the palm is different from any other hand. Because of the loose skin, the creases in the palm gets deeper and it also has an impact on the grip of the hand.

  • Long ears and upward slant of eyes

The ears and the eyes of a person are the USP. It also reflects the body language by which people watching can often get judgemental. People with down syndrome might find it hard to interact with society in general because their involuntary actions could make people around them uncomfortable.

Health problems in Down Syndrome

The person/baby might face certain health issues in his/her life.

  • Hearing problem

The hearing ability of the person could go lower in comparison to any other individual. A frequent ear infection could indicate the doctor or physician to give a proper attention to the person.

  • Alzheimer

At a stage of the level when a normal baby shows stable growth mentally and physically comparatively is less in cases of d/s. The person may go through certain memory losses that mean he/she can’t remember words, thoughts, and actions.

  • Eye-related problems

In certain cases, eye problems may occur like low vision or it might lead to even cataract in severe cases. Surgery is the only solution to get rid of the problem so that the patient can focus on other issues related to d/s.

  • Heart disease

Babies with Down syndrome might have congenital heart diseases where the heart functioning is abnormal and can only be treated with either the pacemaker, heart surgery or a heart transplant.

Treatment of Down Syndrome

Down Syndrome

Medical literature states that science as a discipline hasn’t reached to a point where it can ensure a proper and final treatment for Down syndrome. But still, there are some options which can help cure the effects of Down Syndrome.

Screening and Diagnosis

Pre-birth screening merely can give an indication of the child having down syndrome. As for now, there is confirmation that the medical treatment for down syndrome exists. However, there is a silver lining, after birth in which they can take assistance from a doctor, speech therapist, physio and orthopaedic, which can further result in increasing the longevity of life.

The complications may interrupt in the stability of life, therefore, it is important for the parents to encourage the child with the support of the society and authority. There are certain organizations or centers for close observation and research which can assist the families and individuals who are affected by this syndrome.

These special centers can directly impact the lives of these individuals in a substantial way. This will help in preparing the person to deal with real-time situations.

Down Syndrome

Conclusion – Down Syndrome

People often create an illusion or phobia in their minds by which they come to a baseless conclusion that they will be isolated because of this preconceived notion that individual who is dealing with Down Syndrome are somehow not capable enough to deal with the day to day scenario. But on the bright side, this assumption is gradually changing.

“Enjoy your Path to Mom. Relish every moment!”

Disclaimer: All content on this website, including medical opinion and other health-related information, should be considered as opinion only. Always seek the direct advice of your own doctor in connection with any questions or issues you may have regarding your own health or the health of others.


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