Today is World Down Syndrome Day.

Let’s learn something…

DOWN SYNDROME is a condition in which a person has an extra chromosome.

Chromosomes are small stacks of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth.

Normally, a baby is born with 46 chromosomes which come in pairs – 23 pairs. Babies with Down syndrome have an extra copy of one of chromosome 21.

‘Trisomy’ is a condition where someone has an extra chromosome. Therefore, Down syndrome is also referred to as ‘Trisomy 21’. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.

Children with Down syndrome have different abilities but most of them have an IQ (a measure of intelligence) in the mildly-to-moderately low range and are slower to speak than other children.

Some common physical features of Down syndrome include:

A flattened face, especially the bridge of the nose
Almond-shaped eyes that slant up
A short neck
Small ears
A tongue that tends to stick out of the mouth
Tiny white spots on the iris (colored part) of the eye
Small hands and feet
A single line across the palm of the hand (palmar crease)
Small pinky fingers that sometimes curve toward the thumb
Poor muscle tone or loose joints
Shorter in height as children and adults

How common is it?

In the United States alone, Down syndrome occurs in about 1 in every 700 babies.

What are the types of Down Syndrome?

There are three variants of Down syndrome with slightly different physical and clinical features:

1. Trisomy 21: About 95% of people with Down syndrome have this type.

2. Translocation Down syndrome: This type accounts for about 3%

3. Mosaic Down syndrome: This type is very rare.

What are the causes and risk factors?

Down syndrome is caused by an extra chromosome 21, but no one knows for sure why Down syndrome occurs or how many different factors play a role.

One factor that increases the risk for having a baby with Down syndrome is the mother’s age.

WomenWho are 35 years or older when they become pregnant are more likely to have a pregnancy affected by Down syndrome than women who become pregnant at a younger age.

However, the majority of babies with Down syndrome are born to mothers less than 35 years old, because there are many more births among younger women.

What are the screening tests for Down Syndrome?

Screening tests often include a combination of a blood test, which measures the amount of various substances in the mother’s blood (e.g., MS-AFP, Triple Screen, Quad-screen), and an ultrasound of the foetus.

During an ultrasound, one of the things the technician looks at is the fluid behind the baby’s neck. Extra fluid in this region could indicate a genetic problem. These screening tests can help determine the baby’s risk of Down syndrome.

Sometimes, the test results are normal and yet they miss a problem that does exist.

How is the condition diagnosed?

Diagnostic tests are usually performed after a positive screening test, to confirm the diagnosis. These include:

•Chorionic villus sampling (CVS)—examines material from the placenta.

•Amniocentesis—examines the amniotic fluid (the fluid from the sac surrounding the baby)

•Percutaneous umbilical blood sampling (PUBS)—examines blood from the umbilical cord

What are the health problems associated with Down Syndrome?

Hearing loss

Obstructive sleep apnea, which is a condition where the person’s breathing temporarily stops while asleep

Ear infections

Eye diseases

Heart defects present at birth

Health care providers routinely monitor children with Down syndrome for these conditions.

Can it be cured?

Down syndrome is a lifelong condition. But there are medical, educational and social services that focus on helping children with Down syndrome develop to their full potential.

Reference: CDC.
@Dr KT

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