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  • Yukta Chopra

Symptoms of Down Syndrome

“Awareness without action is worthless.” This is a quote we take as gospel.

Even as you read the sentence, you see, awareness comes before action. That’s what we intend on doing.

Whenever information about health, mental and physical well-being is communicated to us, it can take us by surprise, and most times; leave us confused and panic-stricken. An approach like this will only make the process harder and leave us in an unsecured state of mind.

This is when research and awareness building should step in. We introduce our series in which- we will talk to you about symptoms of various disorders and how to go about them. The first in the series is Down Syndrome.

What is Down Syndrome and Its Causes?

We are born with 23 pairs (46 in total) of chromosomes. Our bodies are made of trillions of cells that carry these chromosomes. These chromosomes carry genes. Genes are responsible for carrying traits like hair colour, eye colour, height, diseases that will be transmitted from parent to child, etc.

Down syndrome is a genetic disorder. We are meant to have 23 pairs but in the case of Down Syndrome, there is an extra gene on the 21st chromosome. This is called Trisomy 21. This is the most occurring case of Down Syndrome.

There is also Translocation, where the extra gene gets stuck to another. And the rare, Mosaic Down Syndrome, is because the body makes 2 or 3 copies of the 21st chromosome.

As a result, the child with this extra chromosome is born with different features and varying degrees of developmental delays and disabilities.

Signs of Down Syndrome include:

Physical Symptoms

  1. Upward slanting eyes (like almonds) with upper eyelids falling onto the eyes

  2. Poor muscle tone

  3. Short neck with extra skin at the back of the neck

  4. Flat nose and other facial features

  5. Small head, mouth, and ears

  6. Shorthands and fingers

  7. A deep fold in the palm of the hands

  8. A deep ridge between the first and second toe

Because of things like poor muscle tone, the child might have difficulties in walking and standing in the beginning.

Mental Symptoms

  1. Slow learning

  2. Delay in speech and language development

  3. Short attention span

  4. Impulsive behavior

  5. Poor social judgment

This can be the reason for developmental problems like communication, picking up a language, participating in social activities, and peer interactions.

What we do need to remember, with both physiological and cognitive developments, is that there is a lot of help that can be taken. The syndrome is unique to each child and so the demands for each are different. Specific therapy can come to help where the caregiver or the therapist can develop physical activities apt for the child and work on language and communication skills to help with improving interaction. The early you take this help, the faster it can be inculcated in your child. These milestones will take time with patients as their companions.

Testing for Down Syndrome Early

This portion is for the pregnant parents who should account for the following things. As a part of your prenatal care, make sure that your doctor is testing you and your baby for any alarming conditions.

There are two ways you can do this,

i) Screenings Tests- This is a stepwise test that is performed during the 1st trimester. A blood test is taken from the mother and ultrasound is done in order to check for any diseases. During the 2nd trimester, another Screening Test is performed, where the results are combined from the previous set of tests for a more conclusive result. The Screenings Test is not the most accurate method. You can always opt for a Diagnostic Test too.

ii) Diagnostic Tests- These tests include Amniocentesis, where a sample of the mother’s amniotic fluid is taken. Chorionic Villus Sampling (CVS), where a tiny amount of tissue from the placenta is removed and examined to detect Down Syndrome; and Ultrasound can provide you with information about the baby and possible defects when caught on the ultrasound.

If a positive result is declared by the doctor, you should get in touch with a genetic counselor and other experts like CBT therapists to learn more. They will not only improve your understanding of the disorder but provide you with the right kind of support.

Taking care of yourself and your child is the action bit. There are organizations and people you can seek help from and work towards building happy and secure futures for your children. The action of providing the right kind of care and facilities, helping them develop in all the spheres, and understanding their needs. That is what we do here, at Asare.

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