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Down syndrome Day – What you need to know about the condition

March 21st is marked as world Down syndrome day, with societies and institutions across the globe celebrating the day. It was chosen as World Down syndrome day to symbolise the medical circumstances under which one can have the syndrome. Down syndrome is named after the English physician John Langdon Down, who characterised the condition but did not have it. 

The day focuses on the situation and needs of those with Down syndrome worldwide and their valuable contributions to human society.

This year’s celebration is on the theme ‘with us, not for us’. The United Nations, in explaining the theme on its website, said, 

“The message of With Us Not For Us is key to a human rights-based approach to disability.”

It added its commitment to moving on from the outdated charity model of disability, where people with disability were treated as objects of charity, deserving of pity and relying on others for support.

The United Nations General Assembly declared World Down syndrome Day (WDSD) in December 2011. Today, people with Down syndrome and those who live and work with them worldwide organise and participate in activities and events to raise public awareness and create a single global voice advocating for the rights, inclusion and well-being of people with Down syndrome.

Down syndrome is a genetic condition where a person is born with an extra chromosome, popularly called chromosome 21. This means that they have a total of 47 chromosomes instead of 46. This tends to affect how their brain functions and how their body develops.  

According to the centre for diseases control and prevention, chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause mental and physical challenges for the baby.

Similar physical features

Even though people with Down syndrome might act and look similar, each person has different abilities. People with Down syndrome usually have an IQ (a measure of intelligence) in the mildly-to-moderately low range and are slower to speak than other children.

Physical signs of Down syndrome are usually present at birth and become more apparent as the baby grows

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 (coloured part) of the eye
  • Small hands and feet
  • A single line across the palm (palmar crease)
  • Small pinky fingers that sometimes curve toward the thumb
  • Poor muscle tone or loose joints
  • Shorter in height than children and adults

Prevalence and cause 

Down syndrome occurs worldwide, with an estimated incidence of 1 in 1,000 to 1 in 1,100 live births worldwide. Approximately 3,000 to 5,000 children are born with this chromosome disorder. Each year Research has not discovered what causes Down syndrome. All that is realised is the extra copy of chromosome 21. There are no linkages with environmental factors or activities of parents, especially the mother. There are, however, risk factors that mothers are predisposed to.

Risk factor 

  1. Being carriers of the genetic translocation for Down syndrome. Both men and women can pass the genetic translocation for Down syndrome on to their children.
  2. Having had one child with Down syndrome. Parents who have one child with Down syndrome and parents who have a translocation themselves are at an increased risk of having another child with it. A genetic counsellor can help parents assess the risk of having a second child with the syndrome.
  3. A factor that increases the risk of having a baby with Down syndrome is the parents’ age. A new study found that older fathers were responsible for up to 50% of the rise in Down syndrome risk when the mother was over 40. The irony of the defect is that the majority of babies with Down syndrome are born to younger parents because there are many more births among younger people.

Types of Down syndrome 

  1. Trisomy 21
  2. Mosaic Down syndrome 
  3. Translocation Down syndrome 


There are two categories of tests for Down syndrome that can be performed before a baby is born: 

  1. Screening tests often include a combination of a blood test, which measures the number of various substances in the mother’s blood (e.g., MS-AFP, Triple Screen, Quad-screen), and an ultrasound, which creates a picture of the baby. During an ultrasound, one of the things the technician looks at is fluid behind the baby’s neck. Extra fluid in this region could indicate a genetic problem. Prenatal screens also estimate the chance of the fetus having Down syndrome. These tests do not tell whether your fetus has Down syndrome; they only provide a probability.
  2. Diagnostic tests: They are usually performed after a positive screening test to confirm a Down syndrome diagnosis. Diagnostic tests, unlike screening tests, can provide a definitive diagnosis with almost 100% accuracy.

It must, however, be noted that none of the tests above can accurately predict the full impact of the syndrome on the baby.


It is a lifelong condition, and there isn’t a cure yet. Symptoms of the condition are manageable, and treatment is available for any associated conditions that may arise.

Preferred language guide

The usage of denigratory language to people with Down syndrome is prevalent. The National Down syndrome Association of America suggested languages when referring to people with the syndrome:

  • People with Down syndrome should always be referred to as people first.
  • Instead of “a Down syndrome child,” it should be “a child with Down syndrome.” Also, avoid “Down’s child” and describe the condition as “Down’s,” as in, “He has Down’s.”
  • Down syndrome is a condition or a syndrome, not a disease.
  • People “have” Down syndrome, but they do not “suffer from” it and are not “afflicted by” it.
  • “Typically developing” or “typical” is preferred over “normal.”
  • “Intellectual disability” or “cognitive disability” has replaced “mental retardation” as the appropriate term.
  • Society strongly condemns using the word “retarded” in any derogatory context. Using this word is hurtful and suggests that people with disabilities are incompetent.


People with Down syndrome are humans with rights who did not choose the condition and must be treated with dignity. It is important to seek knowledge on giving them the best of life is essential, which can be obtained from National societies. Early detection of the condition can help them live productive lives even into adulthood.

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