What is Down Syndrome? Symptoms, Causes, Types, and More

What is Down Syndrome?

Down Syndrome is a genetic disease. The people who have down syndrome are born with 47 chromosomes. The 21st chromosome has two copies. It is also known as trisomy 21. It leads to a retarded physical and mental growth. The retarded growth is evident in the form of disabilities in physical and mental capacity.

Causes of Down Syndrome:

All the men and women have a total of 46 chromosomes in each cell of their body. However, the cells of your reproductive organs carry on 23 chromosomes. When these 23 chromosomes meet with the other 23 chromosomes of your partner during sexual intercourse, they add up to become a total 46 chromosomes. Thus a fetus that forms in the womb of your mom’s body has 46 chromosomes. Half the chromosome from the mother and the other half from the father.

Sometimes, in the above process, instead of a pair, there are three copies of 21st chromosomes. As a result, there is an extra chromosome. This leads to physical disabilities. Among chromosomal disorders, down syndrome is the most common problem.

Types of Down Syndrome:

1. Trisomy 21:

There is an extra 21st chromosome in every cell of the body of the child. It is the most common form of down syndrome.

2. Mosaicism:

This kind of Down Syndrome is such that only a few cells carry an extra chromosome. This phenomenon is not repeated for all cells like in the case of trisomy 21. They have fewer symptoms of disabilities than trisomy 21.

3. Translocation:

In this kind of down syndrome, there are 46 chromosomes. However there is an extra part that is attached to the pair of 21st chromosome.

Physical Symptoms of Down Syndrome:

There are various screening tests available to detect the chances of carrying a child with down syndrome problem. The mother has no complications evident while carrying her pregnancy.

The symptoms of Down Syndrome can be visibly detected on birth. The symptoms are:

1. Flat facial Features:

The facial features of the new born baby are flat. It may not be evident while the child is born, but after a month or so, there is a clear difference you may notice from the features of other children.

2. Small Head and Ears:

During birth, the head of the child is usually the bigger than any other part of the child’s body. It carries maximum weight of the body to compared to other parts of the body. For children with Down’s Syndrome, the size of head is small. Even the ears appear to be very small in size.

3. Short Neck:

It may be difficult to spot this symptom. The neck of the child is extremely small. This can be seen once the child is around 8-10 months old or even later. The neck area seems to nearly be absent and the head looks like its such to the shoulders.

4. Bulging Tongue:

The tongue of the kids having down syndrome is bulging outside. As a result the tongue is always outside. This is a very common symptom and is a clear indication that the child has down syndrome.

5. Eyes slant Upward:

The eye retina of kids with down syndrome are not in their normal position. The retina keeps slipping upward. This causes difficulties in vision as well.

6. Atypically shaped Ears:

The shape of the ears may also look abnormal. They appear to be deformed, as if having a faulty development.

7. Poor Muscle Tone:

The muscular development of the child is poor. As a result the child appears to be drooping. The shoulders are improperly formed. The hands are hanging down all the time.

8. Slow Physical development:

A child with down syndrome will grow but the growth will be slower as compared to any other child who does not have down syndrome condition.

Mental and Behavioral Symptoms of Down Syndrome:

1. Impulsive behavior:

The children having down syndrome have a very impulsive behavior. They react very quickly. They cannot judge the consequences of their actions and are unable to judge what is right an what is not.

2. Poor Judgement:

These children are unable to judge factors like speed, distance and time. As a result they cannot judge a ball that may be thrown towards them and cannot catch it. They cannot analyse well enough. They are also unable to judge their actions and hence behave impulsively.

3. Short Attention Span:

The kids with this condition cannot pay attention for a long duration. Their attention span is extremely limited and they are unable to concentrate at all.

4. Slow Learning Capabilities:

The children with down syndrome cannot concentrate much. This impairs their learning capabilities. They are unable to understand at all. Their cognitive capacity is not up to mark and they can thus not learn much.

The kids with down syndrome fall prey to diseases more often than those who do not have this condition. The medical conditions that accompany this genetic problem are as stated under.

Medical Problems of Children with Down Syndrome:

1. Congenital Heart Defects:

The child may have a defective heart growth. This may result in heart related problems.

2. Impaired Hearing:

Due to faulty ears, the child may not be able to hear clearly.

3. Vision related problems:

As we read above, kids with down syndrome have retinas that shift from their place and keep slipping upwards. This results in vision problems for the kids. They may also develop cataract.

4.  Leukemia:

When cancerous cells target the blood cells of your body, it results in leukemia. Leukemia is thus cancer of the blood cells. It is a common problem among children with down syndrome.

5. Chronic Constipation:

The digestive system of such children is very weak and thus they may be constipated for a very long time.

6. Dementia:

Dementia is a mental disorder that leads to loss of memory. The children are not able to remember things and tend to keep forgetting. This may later lead to Alzheimer’s in old age.

According to studies, mother’s who conceive after 35 years of age have children with down syndrome more often than those who conceive earlier. The older the mother, the higher the risk. It is also necessary to remember that Down Syndrome is a genetic disorder and nobody can predict if a child will be born with the problem or not. However, there are various screening tests available to detect these genetic problems at various stages of pregnancy. The doctor shall refer to you for the same if you ask for the same.

Shabnam Vandeliwala

Venturing into writing is my second most admired hobby after litigating in courts. An advocate by profession, writing gives me immense sense of satisfaction especially in the time that I'm free from other work.

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