Today is International Down Syndrome Day

World Down Syndrome Day (WDSD), marked on March 21, is a global awareness day recognised by the United Nations since 2012. In celebration of WDSD, we’ll be talking more about Down Syndrome.

How is Down Syndrome defined?

Down syndrome is a genetic disorder in which an individual is born with an extra chromosome. Chromosomes are the body’s little “packages” of genes. They influence how a baby’s body develops and functions during pregnancy and after delivery. A baby is typically born with 46 chromosomes. Down syndrome babies are born with an extra copy of one of these chromosomes, chromosome 21.

Trisomy is a medical word for having an extra copy of a chromosome. Trisomy 21 is another term for Down syndrome. This additional copy alters how the baby’s body and brain develop, posing mental and physical obstacles for the infant. While people with Down syndrome may act and appear alike, each individual has unique abilities. Individuals with Down syndrome typically have an IQ (intelligence quotient) in the mild-to-moderately low range and speak more slowly than other children.

What are the signs of Down Syndrome?

Several frequent physical characteristics of Down syndrome include the following:

• 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 (coloured 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 Down Syndrome?

Down syndrome continues to be the most often diagnosed chromosomal disorder worldwide. Around two in every 1000 babies born in South Africa each year have Down syndrome.

Down Syndrome has several subtypes

Down syndrome is classified into three subtypes. Because the physical characteristics and behaviours of each type are typically identical, people frequently cannot determine the difference between them without examining the chromosomes.

Trisomy 21: Approximately 95% of individuals with Down syndrome have Trisomy 21. In this kind of Down syndrome, each cell in the body contains three distinct copies of chromosome 21 rather than the usual two.

Translocation Down Syndrome: This subtype accounts for a relatively modest proportion of individuals with Down syndrome (about 3%). This occurs when an additional part or entire chromosome 21 is present, but it is connected to or “translocated” to another chromosome rather than being a distinct chromosome 21.

Mosaic Down Syndrome: About 2% of people with Down syndrome have this form. Mosaic is a term that refers to a mixture or combination. Children with mosaic Down syndrome have some cells with three copies of chromosome 21, while others have the standard two copies. Individuals with mosaic Down syndrome may exhibit the same characteristics as other Down syndrome children. They may, however, exhibit fewer of the condition’s characteristics due to the presence of some (or many) cells with a normal number of chromosomes.

Causing factors and risk factors

The additional chromosome 21 results in the physical characteristics and developmental difficulties associated with Down syndrome. While researchers are confident that an extra chromosome causes down syndrome, no one is certain why it occurs or how many distinct factors contribute.

The mother’s age is one factor that raises the probability of having a child with Down syndrome. Women who become pregnant at the age of 35 or later are more likely to have a Down syndrome-affected pregnancy than women who fall pregnant at a younger age. However, most babies born with Down syndrome are to moms under the age of 35 due to the higher rate of births among younger women.

Diagnosis

Two tests are available to detect Down syndrome during pregnancy: screening tests and diagnostic tests. A screening test can inform a woman and her healthcare provider about the likelihood of her pregnancy having Down syndrome.

While screening tests can not provide a definitive diagnosis, they are far safer for the mother and developing infant. While diagnostic tests can often determine whether a baby will have Down syndrome or not, they can be more dangerous for the mother and growing infant. Neither screening nor diagnostic techniques can accurately predict the full impact of Down syndrome on a baby; no one can.

Often, screening tests combine a blood test to determine the presence of several compounds in the mother’s blood with an ultrasound to create an image of the baby. The fluid behind the baby’s neck is one of the things the technician examines during an ultrasound. Additional fluid in this location may suggest a genetic issue. These screening tests can assist in determining whether a baby is at risk of developing Down syndrome.

Occasionally, screening tests will produce an abnormal result even if the infant is perfectly healthy. Sometimes, test findings are normal yet fail to detect an underlying problem. Diagnostic tests are typically ordered following a positive screening test to confirm the diagnosis of Down syndrome. These tests check for chromosomal abnormalities that would imply a diagnosis of Down syndrome.

Additional health concerns

Many people with Down syndrome share the same facial characteristics and have no other significant birth abnormalities. However, some individuals with Down syndrome may have one or more substantial birth abnormalities or other medical complications. The following are some of the more prevalent health problems encountered by children with Down syndrome:

• Hearing impairment
• Obstructive sleep apnea (a condition in which a person’s breathing stops momentarily while sleeping)
• Infections of the ears
• Diseases of the eyes
• Congenital disabilities of the heart

Treatments

Down syndrome is a chronic disorder that requires lifetime care. Early intervention services frequently assist infants and children with Down syndrome in developing their physical and intellectual abilities. The majority of these services are geared toward helping children with Down syndrome in reaching their full potential.

These treatments, including speech, occupational, and physical therapy, are typically provided through each state’s early intervention programmes. Children with Down syndrome may also require more assistance or attention in school, but many are integrated into regular schools and education platforms.