Things you need to know about Down Syndrome

When the doctor tells you that your baby has Down Syndrome, you may feel a great sense of fear and shock. That is very normal. Questions like "What do I do now?" and "What will my child's future be like?" are probably running through your mind. Don't worry. We will talk about everything in a very simple way that you can understand. By the time you finish reading this article, you will have a better understanding of this condition.

Simply put, what is Down syndrome?

Okay, to understand this, let's start with the most basic thing in our body. Our body is made up of millions of tiny cells. Inside each of these cells is a set of "instructions" that contain all the information about how our body should function, our appearance, our height, and our eye color. In medicine, we call these instruction books chromosomes .

Normally, every cell in a healthy person has 23 pairs of these chromosomes, for a total of 46 chromosomes . What happens in a child with Down syndrome is that there is an extra copy of chromosome 21. This means that the child's cells have 47 chromosomes instead of 46.

Is there a specific reason for this condition? Who is at higher risk?

This is a question that many parents ask. "Is this our fault?" they wonder. Of course not. Down syndrome is not a condition caused by anything the parents did before or during pregnancy. It occurs almost entirely sporadically. That is, it happens by chance during the cell division that occurs when the sperm and egg meet at the moment of conception.

However, research has found that the risk of having a baby with Down syndrome increases slightly as the mother's age increases . This risk is especially high for women over the age of 35. However, this does not mean that this condition does not occur in mothers under the age of 35. In fact, because women under the age of 35 give birth to more children, the majority of children with Down syndrome are born to mothers under the age of 35.

What are the common symptoms of a child with Down syndrome?

Children with Down syndrome have certain common physical, intellectual, and behavioral characteristics. However, we must remember that not all of these characteristics are present in every child , and the nature of these characteristics may vary from child to child.

In addition to these symptoms, other health problems may arise as the child grows. For example, ear infections, vision problems, dental problems, obstructive sleep apnea, and some children may have congenital heart disease . Therefore, the doctor will regularly check these children.

There are three main types of Down syndrome.

Down syndrome is divided into three main types, depending on how that extra 21st chromosome is located in the cells.

1. Trisomy 21: This is the most common type . It affects 95% of people with Down syndrome. This type is characterized by the presence of three copies of chromosome 21 in every cell of the body, instead of two.

2. Translocation Down Syndrome: This is a bit rare. About 4% of Down syndrome patients belong to this type. What happens here is that all or part of the extra chromosome 21 moves to another chromosome and attaches itself.

3. Mosaic Down Syndrome: This is the rarest type (less than 1%). What happens here is that the extra 21st chromosome is present only in some cells of the body. The other cells normally have 46 chromosomes. Because of this, the symptoms of these children may be slightly less than usual.

How to recognize this condition?

Down syndrome can be diagnosed before or after birth.

Before the baby is born (during pregnancy)

There are two types of tests performed during pregnancy.

• Screening Tests: These are used to determine the risk of a baby having Down syndrome. This is done through a blood test from the mother and an ultrasound scan. The scan measures things like the amount of fluid in the back of the baby's neck. If this test shows that there is a risk, you will be referred for further testing to confirm it.
• Diagnostic Tests: These are 100% accurate in determining whether a baby has Down syndrome. The main tests for this are Amniocentesis and Chorionic Villus Sampling (CVS) . This involves taking a small sample of the amniotic fluid or placenta surrounding the baby and testing for chromosomes.

After the baby is born

As soon as the baby is born, the doctors will examine the baby's physical appearance. They will look for the common features we discussed earlier. If Down syndrome is suspected, a blood test called a karyotype is done to confirm it. A small blood sample taken from the baby can be examined under a microscope to determine for sure whether there is an extra copy of chromosome 21.

Treatment and support - how to help the child?

Down syndrome is not a completely curable condition. It is a lifelong condition. However, with proper treatment, therapy, and loving support, the child can be helped to live a happy, healthy life to the fullest extent possible.

Treatment options include:

• Physical Therapy: Helps strengthen muscles and improve movement skills such as walking and swimming.
• Occupational Therapy: Develops skills needed to easily perform daily tasks, such as dressing yourself, eating, and holding a pen.
• Speech Therapy: Helps you speak clearly, understand what others say, and express yourself.
• Special education programs: Teaching activities are conducted at school in a manner that suits the child's learning ability.
• Treatment for other health problems: If there are any conditions such as heart disease or thyroid problems, provide the necessary medical treatment.

Special points to be taken care of regarding the child's health

Children with Down syndrome are at higher risk of certain health problems, so it's important to be aware of this.

• Heart disease: Many children can have congenital heart disease. Some of them require surgery.
• Thyroid problems: Thyroid hormone levels may be low or high.
• Digestive system problems: Conditions such as constipation and gastritis are common.
• Alzheimer's disease: People with Down syndrome are at increased risk of developing Alzheimer's disease, a disease that causes memory loss, as they age. A gene on chromosome 21 has been found to be involved in this.

Therefore, it is essential to regularly seek medical advice regarding the child's development and health.

The support you receive as parents

Don't struggle alone with the emotions you feel when you find out your child has Down syndrome. You are not alone.

• Doctors and therapists: Consult your child's health team. Ask questions.
• Counseling: You can seek counseling to talk about your fears and worries.
• Support Groups: Join other parents of children with Down syndrome. You can learn a lot from their experiences. It's also a great encouragement to know that you're not the only one going through this journey.

Caring for a child with Down syndrome can be a challenge. But it is also a life-changing and loving experience. These children are very loving and want to be happy. With the right support, they too can go to school, make friends, get a job, and live successful lives.

Down Syndrome, Down Syndrome, Chromosome 21, Trisomy 21, Genetic Diseases, Children's Health, Developmental Delay, Pediatric Diseases