Down Syndrome

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As per a report published in The Times of India in March 2022, Down Syndrome is one of the most prevalent birth diseases in India, affecting around 1 in every 830 childbirths. The report further mentions that about 1.3 lakh children in India are born with this condition. The number may be alarming, but many organisations have come forward to create awareness around this genetic disorder. The conversation is now moving toward cognitive disability rather than mental retardation.

In the below article, we shall focus on Down Syndrome - its types, causes, symptoms, treatment, etc. But before that, let us look at the growing importance of health insurance.

The rise in lifestyle diseases, several health-related issues, increasing medical inflation, and similar other factors have made mediclaim insurance essential in recent times. A health insurance policy from Tata AIG offers several health insurance benefits for you and your family at the best premium rates. Moreover, you can calculate your estimated premium with our easy-to-use health insurance premium calculator.

Down Syndrome - Meaning

Down Syndrome is a genetic condition or disorder that causes physical and developmental problems in a child. It is a gene defect at or before birth and stays as a lifelong condition. People who have Down Syndrome are born with an extra chromosome. Chromosomes are thread-like structures in which DNA packages in our cells that carry our genes.

Down Syndrome happens when a new life starts with one additional chromosome in each cell than usual. This extra genetic condition causes developmental delays and changes in the physical features of a person with Down Syndrome.

The severity of Down Syndrome may vary from individual to individual, which may lead to lifelong intellectual disability, developmental delays, etc. This condition is considered one of the most common causes of learning disabilities in children.

Causes of Down Syndrome

As we know, during reproduction, the parents - mother and father - pass their genes on to their children. These genes, as mentioned earlier, are carried in chromosomes. Typically, human cells contain 23 pairs of chromosomes. Each pair of chromosomes include one from your father and another from your mother. When the baby develops, every cell receives 23 pairs or 46 chromosomes in total.

Down Syndrome occurs when one of the chromosomes (chromosome 21) does not separate properly. As a result, the baby ends up with three copies instead of two, with an extra partial copy. This extra chromosome is the prime cause of delay in brain development and difference in physical features.

Risk Factors

While experts and medical professionals are unaware of the leading cause of this condition, some women are at a higher risk of having a baby with Down Syndrome.

Maternal and paternal age

Studies have shown that a woman aged 35 and above has a greater chance of giving birth to a child with Down Syndrome. This is because the older eggs have shown more improper chromosome division. Similarly, fathers above the age of 40 had twice the likelihood of having a child with this condition.

Genetic translocation

Some parents may have translocated genes, meaning their genes may differ from their regular place. They don't have Down Syndrome because they have the correct number of genes. However, the child may have "translocation Down Syndrome." This condition doesn't need to be always inherited.

Family history of Down Syndrome

Parents whose first child has Down Syndrome or who themselves have translocation have higher chances of having another child with this condition.

Types of Down Syndrome

Down Syndrome is of three types

Trisomy 21: Most Down Syndrome cases, almost 95%, are due to this genetic variation. In this type, all cells in a person's body have three copies of chromosome 21 instead of two copies. This abnormal cell division is caused during the growth of the sperm cell or the egg cell.

Mosaic Down Syndrome: Unlike trisomy 21, mosaic Down Syndrome occurs when a person has no extra chromosome, only in some but not all of the body's cells. People with this condition show fewer Down Syndrome symptoms. The abnormal cell division takes place after fertilisation.

Translocation Down Syndrome: In this Down Syndrome, each cell has only an extra part of chromosome 21. It is attached (translocated) onto another chromosome rather than on its own. This abnormal cell division takes place before or at conception.

Usually, all three types of Down Syndrome have the same symptoms. However, mosaic Down Syndrome may show comparatively lesser symptoms.

Down Syndrome Symptoms

This condition can affect different individuals differently. Some may require less assistance and lead their lives entirely by themselves, while others may constantly need some support and help to take care of themselves. In many cases, people having Down Syndrome will learn and pick up new skills; they may need a longer time to reach that goal.

Children and adults with Down Syndrome usually have certain distinctive facial features like:

  • Flattened face

  • Small head and ears

  • Short neck

  • Protruding tongue

  • Upward slanting eyes

  • Poor muscle tone

  • Short fingers and small hands and feet

  • Excessive flexibility

  • Short height

An infant with Down Syndrome is born an average size, but development occurs slowly. Since a child with this condition faces mental and social development delays, that means the child would show symptoms like:

  • Impulsive behaviour

  • Poor judgement.

  • Slow learning capabilities

  • Short attention span

Down Syndrome Complications

People and children with this condition can have several complications. Some people with this condition may not face significant health issues and lead their lives on par with others. However, most of them do face medical complications. These include:**

Congenital heart problems: Almost half of the children with this condition face some congenital heart problem. These heart defects can be life-threatening and may require surgery in early infancy.

Hearing and vision problems: Down Syndrome may also lead to hearing problems, ear infections, poor vision, and cataract problems among the patients.

Leukaemia: Infants and young children with Down Syndrome have a higher risk of leukaemia.

Gastrointestinal problems: Some children may face gastrointestinal abnormalities related to the intestines, oesophagus, and anus. They may also face a higher risk of digestive issues and chronic constipation.

Hypothyroidism (low thyroid function): Many people with Down Syndrome may suffer from thyroid-related issues.

Sleep apnea: People with Down Syndrome have soft tissues and skeleton changes, which blocks their airway. It may lead to uneven or disturbed sleep patterns.

Dementia: Studies have shown that people with this condition develop a high risk of dementia and Alzheimer's disease later in their lives.

Obesity: People with this condition may have a high chance of being obese compared with the general population.

Immune disorder: People with Down Syndrome are more prone to infection. They may struggle with respiratory infections, urinary tract infections, and skin infections.

Down Syndrome Diagnosis

Typically, doctors can suspect Down Syndrome in a newborn baby based on the appearance during the regular screening. First, however, confirmation is required, which can be done through a blood test called the 'Down Syndrome karyotype test.' This test shows if there is an extra chromosome 21 (Down Syndrome chromosome) to the existing set of chromosomes.

Screening during pregnancy

As mentioned above, routine tests and sonography during pregnancy can suggest if the baby has Down Syndrome. However, if the results point in that direction, or if you as a parent are at high risk, you may have to undergo additional tests to be sure.

In the first trimester, your doctor may advise you to have specific blood tests to check whether everything's okay with the baby. Usually, the tests are done to measure the protein levels and a hormone called hCG in your blood. If the test results prove deviation from the normal range, there could be a problem with the baby.

Additionally, if you are at high risk for this condition, your doctor may advise you to take DNA tests to examine any chromosome abnormalities.

Another way to confirm this condition is through ultrasound. Babies with Down Syndrome have extra fluid at the back of their necks. So while performing an ultrasound, your doctor can check if there is any such excess fluid to confirm the presence of Down Syndrome in your baby.

When you enter your second trimester, your doctor would again advise you to have some blood tests done, either a triple or a quad-screen test. These tests measure other substances in your blood, like the protein AFP and the hormone estriol.

The result of the second trimester, combined with the earlier trials, would give your doctor a fair estimate of your baby's chances of Down Syndrome.

Also, as the baby grows in the second trimester, the physical features through ultrasound get more precise and more developed. Your doctor can then easily conclude if the baby has Down Syndrome condition.

There are a few DNA-based tests for an extra chromosome 21 that can be conducted to help in the diagnosis of Down Syndrome before the child's birth. These include:**

Chorionic villus sampling (CVS): This test is usually conducted during the first trimester using cells taken from the placenta. This test is done between the 9th and 14th week of the pregnancy.

Amniocentesis: It is conducted mainly during the second trimester (after 15 weeks of pregnancy), wherein the fluid taken for testing is from the amniotic sac surrounding the baby.

Percutaneous umbilical blood sampling (PUBS): This test is also done during the second trimester, during the 18th week of the pregnancy. For this procedure, the blood is removed from the umbilical cord.

Test conducted at birth

At birth, your doctor would conduct a physical examination of the baby and a Down Syndrome karyotype test to confirm the condition.

Down Syndrome Treatment

Unfortunately, it cannot be wholly cured or prevented. Hence, there is no definite Down Syndrome treatment. However, people with this condition can lead an everyday life and reach their full potential if provided with proper assistance, help, and encouragement. Various programs and therapies are designed specifically for people with such conditions to help them develop holistically.

The key here is to begin early with these therapies. Then, depending on your child's need and area for development, your doctor and specialist can recommend therapies, programs, and skills to work on.

  • You might need a primary care provider to oversee your child's development and growth continuously.

  • Depending on your child's condition, you need a team of physicians, including a cardiologist, ENT specialist, endocrinologist, etc.

  • If your child is facing challenges in communication, a speech therapist may be helpful for communication building.

  • Since children with Down Syndrome have soft tissues, physiotherapists may help them strengthen their muscles.

  • Most of the children would require occupational therapy to help improve their gross motor and fine motor skills.

  • Children with this condition typically have impulsive behaviour and emotional outbursts and find it difficult to handle emotions. A behavioural therapist can help your child manage emotional ups and downs.

As a parent, you must work closely with your child's doctor, monitor his/her development, and watch for any changes and requirements required physically, mentally, or health-wise associated with the condition.

For example, children with Down Syndrome develop at their speed. They might only sometimes meet specific age-related milestones like the other children on time. Mostly, they may learn things slowly. For such children, school plays a vital role in their development. Irrespective of their intellectual ability, a school can help their development in manifolds.

Many public and private schools support children with Down Syndrome with integrated classrooms, cohesive environments, and special learning opportunities. In addition, schools can help your child with socialisation opportunities that become a significant part of building essential life skills. As a parent, you should encourage your child to participate in regular mainstream schools and institutions for holistic development.

Life of A Child or Person with Down Syndrome

The life of a child or person with Down Syndrome can be challenging yet fulfilling. Children typically face learning disabilities but can perform routine tasks conveniently. The degree of help and assistance required largely depends on the severity of the condition and varies from person to person. However, most children can walk, communicate, read and write at their own pace.

You can ensure your child reaches their potential by providing the required medical care and the proper social and educational backing. In addition, they may need extra help in terms of speech therapy, physiotherapy, occupational therapy, etc. The support must be provided at the correct stage.

Consider enrolling your child in a regular mainstream school if your doctor permits. However, if need be, or your child has significant learning difficulties, you may need to opt for special schools. These centres have specialised teachers and trainers who can help your child's development and make them independent.

Like every other baby, a child with Down Syndrome needs to feel valued and loved by his family. In addition, they require encouragement and support to help them flourish and ease their journey. Despite facing multiple challenges, people with Downs syndrome can have active and fulfilling lives.

According to a report by the Down Syndrome Federation of India, the average life expectancy of a person with Down's syndrome in good health is 55 years or beyond.

Benefits of Health Insurance

A person or child with Down Syndrome may face many challenges throughout his lifetime. Delay in development, medical complications, or simply doing his day-to-day activity. As much as love, support and encouragement are needed to overcome this challenge, equal financial aid is necessary to deal with medical needs and requirements.

The costs related to the treatment, which probably is a long ongoing process, are very high. Also, many individuals with this condition face severe medical complications, leading to an additional financial burden on the family.

Hence, opting for a comprehensive and robust health insurance plan that helps you during difficult times and safeguards your savings is recommended.

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Key Takeaway

Down Syndrome is a lifelong condition which can neither be cured or prevented. However, by providing your child with the required medical attention, additional therapies, and learning facilities, you can help them lead a fulfilling and productive life.

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Related Articles

Is Down Syndrome a genetic disorder?

Is Down Syndrome a genetic disorder?


Yes, Down Syndrome is a genetic disorder wherein abnormal cell division leads to an extra full or partial copy of chromosome 21. This additional genetic condition causes developmental delays and changes in the physical features of people with Down Syndrome.

Is Down Syndrome inherited?


In most cases, Down Syndrome is not an inherited condition. It develops because of an error during cell division. But a child can inherit translocation Down Syndrome.

How common is Down Syndrome in children?


Down Syndrome is one of India's most prevalent chromosomal conditions, affecting around 1 in every 830 childbirths. The report further mentions that approximately 1.3 lakh children in India are born with this condition. It is also the leading cause of intellectual and developmental delays in children worldwide.

What kind of quality of life can a child with Down Syndrome expect?


Lately, the quality of life for people with this condition has improved. However, early medical attention and developmental intervention are critical. People with Down Syndrome may need help but can lead productive, fulfilling lives. Three main things required are – good healthcare, quality educational programs, and a stimulating home environment.

Can one know the level or degree of Down Syndrome during diagnosis?


No, diagnosis of Down Syndrome would only determine the presence of additional chromosome 21, that is the Down Syndrome chromosome. However, this condition's degree, level, or severity cannot be defined as it varies from person to person.

What are the most common complications faced by a person with Down Syndrome?


People with Down Syndrome may face multiple complications. However, the most severe difficulty includes heart problems, blood disorders, and immune system problems. As per a report, almost half of all babies born with Down Syndrome face mostly repairable heart defects.

If there is a family member with Down Syndrome, will anyone else get this condition?


As mentioned above, this condition is not usually inherited and does not generally run in families. Down Syndrome can occur in people of all races and economic levels. Older women are known to have an increased probability of having a baby with Down Syndrome. Also, a child can inherit translocation Down Syndrome if one or both parents have it.

Will my family life change if my child is born with this condition?


A child with Down Syndrome may have special medical needs that require additional health care, educational, and family support. But with proper and timely support, be it programs or therapies, these children can increasingly get involved in society and their communities activities.

Is Down Syndrome covered under health insurance?


Down Syndrome is an external congenital disease usually not covered under health insurance. However, some plans by a few insurance companies cover the condition or at least its co-existing factors. Also, some health insurance plans cover the cost of specific treatments and therapies, such as speech therapy, that can treat related issues of Down Syndrome. Additionally, some mediclaim insurance may cover diseases like leukaemia and Alzheimer's. However, before you buy health insurance, you should ensure that the plan covers this condition or related treatment and therapies. One thing you should keep in mind is the waiting period. Since the state is congenital, it is mostly categorised under pre-existing disease in a health insurance plan.