Down Syndrome

A human body is made up of 23 pairs of chromosomes, i.e. they are 46 in number. These chromosomes are the basic build-up structure of DNA and contain all or part of the genetic structure of the human body. Some unfortunate child is born with an extra copy of chromosome 21 and that is responsible for abnormalities in the normal growth of the child. These children face difficulties throughout their life. These children suffer from many diseases and may have a very short life cycle. They will develop many other diseases in the later part of their life.

Down syndrome can happen to any one of us and no specific reason is responsible for this. The parents may not be having these diseases or if they have it is not necessary that the child also carries the same problem. Several other problems are associated with this disorder like, delay growth, low intellect, reading and learning problems, physical disabilities, etc.

There is no treatment available for this syndrome, however the disability may be tested well before pregnancy in the second trimester. It is better to take care of that at that stage, as after birth there is no solution but love, care, and support for the child to cope with his disability.

Down Syndrome: Causes

The reason for Down syndrome is due to an extra chromosome developed in the child during birth i.e. chromosome 21. These chromosomes are normally two in number but in Down syndrome patients there is an extra chromosome that creates problems for the person.

There is no specific reason for the syndrome, however the following are the important causes of developing Down syndrome −

  • Genetic. Although a child rarely inherits this syndrome from the parents. But in some of the cases, it is found that the translocation of Down syndrome is carried to the child.

  • Trisomy 21. This is the most important and identified reason for Down syndrome, in this the child or person has three copies of chromosome 21, instead of two copies. This happens in 95% of all cases of Down syndrome. Abnormality in the cell division during the development of the fetus is the reason for this abnormality.

  • Translocation Down Syndrome. In translocation, the extra chromosome is attached to the other numbered chromosome instead of being a separate chromosome like in Trisomy 21.

  • Mosaic Down syndrome. This syndrome is classified when in some cells there are 46 chromosomes and in some cells 47. This is one of the rarest conditions.

Down Syndrome: Symptoms

The patient with Down syndrome may have a variety of symptoms based on the type of above-mentioned types. Each person may show different symptoms and it mainly affects the brain and the child may show abnormality symptoms related to mental activity.

There are some physical symptoms too. Some mainly present with the following symptoms −

  • Difficulty in speaking

  • Difficulty in walking, and standing

  • Hearing problems

  • Eye problems

  • Slanting eyes pointing at corner areas

  • Different or abnormal body structures like flat noses, uneven eyelids, short necks, small ears, hands, and legs

  • Short height even if parent’s height is good

  • Weak immune system and therefore getting ill frequently

  • Disease that is not common to children like sugar, diabetes, blood pressure, arthritis, etc.

  • Have low or bad motor skills, which cause difficulty in walking, standing, running, etc.

  • Have difficulty in grasping teachings, low IQ, dyslexia, etc.

  • Some may display behavioral problems like being rude, angry, or ill-mannered at all times. Do not share their thoughts, or talk to family or friends

  • Some children may acquire diseases very early like cancer, Alzheimer, Parkinson's disorder, Anaemia, heart problems, etc.

  • Socially and emotionally challenged. The symptoms are many and any abnormal reaction may be a symptom of Down Syndrome

Down Syndrome: Risk Factors

Several factors play an important role in the development of Down Syndrome which includes −

  • Family genetics. Although child hormones are rarely affected due to their parents. But in some of the cases, it is found that the translocation of Down syndrome is carried to the child.

  • Age. In the modern world, many women are getting pregnant at a later stage of life due to career planning, unsuccessful marriages, and looking for perfect partners. This delay in getting married results in delayed pregnancies and sometimes altered the chromosome structure of the fetus.

  • Family with one or more children with Down syndrome. If one of the children is diagnosed with down syndrome it may happen that the second child might be having risk for it too.

Down Syndrome: Diagnosis

The diagnosis of Down syndrome is normally done in two stages. The first is during pregnancy and the second one is after the birth of the child. The methods of diagnosis are mentioned below −

Screening Test

Children after birth may show unusual physical appearance and movements. He will have low motor skills and may not respond very well to sounds. The doctor on seeing this activity may order hormonal tests to confirm for Down syndrome.

Pregnancy-related Test

Many of the tests are conducted by a gynecologist during the first and second trimesters to look for any abnormalities in the child. Some of the tests include the following −

  • Blood test. In this, the doctor will see levels of a hormone named HCG (Human Chorionic Gonadotropin) and Pregnancy Associated Plasma Protein-A (PAPP-A). These tests help to confirm if any abnormalities are with the child.

  • Ultrasound. Many types of ultrasounds are available to test the fetus’s growth, neck area, or any other physical structure.

  • Chorionic Villus Sampling (CVS). In this test, cells are extracted from the placenta to check for chromosomes.

  • Amniocentesis. As the name suggests, amniotic fluid is checked here.

Down Syndrome: Treatment

A child with this syndrome cannot be treated, there is no surgery or medicines available. However, diseases or conditions arise due to it being treated by various pediatric departments. Following treatment, procedures may be required.

  • Patients may suffer from ENT abnormalities, frequent fever, low motor skills, gastro, heart problems, etc. The child will, therefore, requires a lot of attention and immediate treatment. He should have access to all the departments as he may be diagnosed with any of the diseases.

  • Special schools. Many schools have been started for managing the mentally ill or special children. He may be advised to attend to those skills where special care and attention will be given to him.

Down Syndrome: Prevention

There is no method of prevention for a child being diagnosed with down syndrome. However, few methods may be used for earlier detection and helping the child.

  • A genetic test may be conducted before getting pregnant.

  • Blood tests and HCG tests, and other tests for checking the child's growth be conducted, and if found positive, taking a rational decision to deal with it.

  • For a child who is confirmed to have this syndrome, love, and care may help him.

  • Sending him to a special school with trained teachers.

  • Regularly check him for symptoms of any other diseases.

  • Helping him through speech therapy and other methods to remain motivated.


Down syndrome is a genetic condition in which there is an extra chromosome in the cells of a person. This extra chromosome is responsible for all many diseases and makes children less active than others. The child will not have a normal childhood and his life age is also not long. He suffers from many diseases and will require continuous monitoring. He will need extra care and support to survive.

Dr. Durgesh Kumar Sinha
Dr. Durgesh Kumar Sinha


Updated on: 26-Apr-2023


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