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Down Syndrome– Here is Everything You Need to Know

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Did you see the Hollywood movie named The Peanut Butter Falcon or the Bollywood movie named Ahaan? These have central characters suffering from Down syndrome. Also known as trisomy 21, this genetic disorder is caused by the presence of the third copy of chromosome 21. This additional chromosome leads to both mental and physical challenges for a person born with it. It’s an incurable condition and it lingers for a lifetime. Along with the characteristics like low muscle tone and a flat facial profile, it may cause some level of intellectual disability.

Let’s learn about this condition, so that we can be more understanding, caring and empathetic towards sufferers. Also, if you have a loved one with this disorder, make sure you buy the right health insurance plans for financial coverage.

What Is Down Syndrome?

Down syndrome is a genetic disorder in which a child is born with an extra chromosome. This extra chromosome causes mild to severe physical and developmental delays and disabilities. Anormal babyhas 23 pairs of chromosomes, one chromosome in each pair comes from the mother and the other comes from the father. But people with Down syndrome have an extra copy of chromosome 21. This means, they have 3 copies instead of the usual two, which causes physical and mental challenges in the person. Chromosomes contain genes that determine how you develop during pregnancy and after birth.

Down syndrome is a lifelong condition and the severity of the disorder varies from person to person.

Down Syndrome Symptoms

People with Down syndrome have distinctive physical features such as a flattened face, small head and ears, tiny white spots on the iris of the eye, short neck, eyes that slant upward, protruding/bulging tongue, small hands and feet, poor muscle tone, short stature, and loose joints.

Common learning and behavioural symptomsinclude impulsive behaviour, short attention span, poor judgement, delay in speech and language development, sleep difficulties, delayed toilet training, etc.

Some health issues include congenital heart problems, hearing and vision loss, obesity, dementia, obstructive sleep apnoea (a condition where a person’s breathing temporarily stops during sleep), etc. However, not everyone with Down syndrome show all these symptoms. The symptoms and their severity are different from individual to individual.

Down Syndrome Causes and Risk Factors

The key cause of Down syndrome is the extra chromosome. A normal person is born with 23 pairs of chromosomes in each cell, which makes it 46 in all. Half of the chromosomes come from the mother and half from the father. But with Down syndrome, the child gets an extra copy of chromosome 21, that is, 3 copies of the chromosome instead of the usual two. This extra chromosome causes some physical and mental disabilities for life.

One of the risk factors for having a baby with Down syndrome is the mother’s age. If a woman gets pregnant after the age of 35, she is more likely to have a baby with Down syndrome. If you already have a child with Down syndrome, there are chances that the other child will also have it.

Types of Down Syndrome

1. Trisomy 21:

This is the most common type of Down syndrome in which each cell in the body has 3 copies of chromosome 21 instead of the normal 2 copies. About 95% of the cases belong to this type.

2. Translocation Down Syndrome:

This type is rare. An extra part or the whole extra chromosome 21 is `translocated’ or attached to a different chromosome instead of being a separate one.

3. Mosaic Down Syndrome:

This is the rarest type with 2% of people with Down syndrome belonging to this type. In this type, only some cells have an extra copy of chromosome 21 but other cells have the usual 2 copies.

Down Syndrome Diagnosis

During pregnancy, there are 2 types of tests to check if your baby has Down syndrome – screening tests and diagnostic tests. Screening tests consist of blood tests and ultrasound during the first and second trimesters of pregnancy. These tests may not give an accurate diagnosis, but they are safe for both the mother and child. Diagnostic tests, on the other hand, can clearly tell whether your baby has Down syndrome or not, but they can be risky for the mother and baby. Diagnostic tests are Chorionic villus sampling (CVS), Amniocentesis, and Percutaneous umbilical blood sampling (PUBS). These tests will tell if there’s any change in the chromosomes.

Down Syndrome Treatments

Since Down syndrome is a lifelong condition, there’s no cure or treatment for it. But support and therapies do help people with Down syndrome in improving their physical and intellectual abilities and develop their full potential. Therapies include physical, occupational and speech therapy. Apart from therapies, social and recreation activities, specialised education services can help your child to cope with the condition. It is advisable to start the treatment early.

Down Syndrome Complications

With age, people with Down syndrome develop complications such as heart issues, gastrointestinal disorders (reflux, blockages and celiac disease), autoimmune disorders, obesity, sleep apnoea, seizures, childhood leukaemia, dementia, hearing and vision problems (cataracts and crossed eyes), and spinal problems.

Conclusion

Down syndrome can neither be prevented nor cured. However, early treatment and learning to live with this genetic disorder can improve the quality of life of both children and adults and help live a fulfilling life. Also, with adequate health insurance plans, you can protect your savings in case of treatments. But do check with your insurance provider if Down syndrome is covered in the policy or not.

Disclaimer: The above information is for illustrative purpose only. For more details, please refer to policy wordings and prospectus before concluding the sales.

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