Down Syndrome - A Genetic Condition not a Disease!

Down Syndrome is not to be mistaken as a disease or illness. It is a genetic condition, a disorder that affects a large number of people per year in India. Children affected by Down Syndrome have different physical traits such as a flat face and short neck with slow mental and cognitive development. Although the abnormality is never extreme, it ranges from mild to moderate. However, Down Syndrome is a lifelong condition. It can be treated for the betterment of the child but cannot be cured.

What causes Down syndrome?

Down Syndrome is a genetic disorder that affects the embryo or fetus when it is within the womb. In normal cases, a person has 46 chromosomes in each cell. However, those affected with Down syndrome have an extra chromosome 21 in their cell; they have a total of 47 chromosomes.

At conception, the embryo receives three copies of chromosome 21, instead of two; hence the name trisomy 21. It is the most common form of chromosomal disorder known so far.

Some facts about Down syndrome:
Here are some quick facts about Down syndrome -

• A woman conceiving over 35 yrs. of age has the chances of giving birth to a child affected by Down Syndrome.
• Instead of the regular two copies of chromosomes, those affected by Down Syndrome have a third copy of chromosome 21.
• There are certain physical abnormalities in Down syndrome like flat nasal bridge, upward slanting eyes, short neck & limbs, low muscle tone and a shorter stature.
• Intellectual and cognitive disabilities vary from person to person.
• Those affected with Down Syndrome often have the chance of developing some severe medical conditions like celiac disease, hypothyroidism, leukaemia and gastro-esophageal reflux disease.
• With age, a decline in memory and intellectual ability is observed. Alzheimer's Disease is a common symptom after 50 years.

Types of Down syndrome:

There are three types of Down syndrome -

• Trisomy 21 - This is the most common form of Down Syndrome where there are three chromosome 21 in every cell instead of two.
• Mosaicism - In this form, children are born with an extra chromosome in some cells, though not in all.
• Translocation - Here, an extra part of Chromosome 21 is attached to one of the 46 chromosomes. 

What are the symptoms of Down syndrome?

Symptoms are associated with diseases. However, Down Syndrome is not a disease. So here are some physical and developmental traits characteristic to Down Syndrome.

Physical traits -

• Eyes are slanted upwards with oblique fissures and white spots on the iris.
• Low muscle tone and a shorter stature.
• Short neck & limbs
• Protruding tongue
• Flat nasal bridge
• Large gap between the larger and second toe.

Developmental traits -

• Delay in speech
• Sedated cognitive development (varies from person to person)
• Slow development of fine motor skills
• Takes time to learn to sit, crawl or walk than normal kids
• Impulsive behaviour at times

Can Down Syndrome be diagnosed beforehand?

Yes, Down Syndrome can be diagnosed beforehand, although there is no specific treatment to cure this condition. Women who are 35 years and older can go for pre-natal screenings and diagnostic tests to see if the fetus has been affected genetically. Risks of Down Syndrome increases in late pregnancy.

Also after birth, doctor suggests a genetic testing to be done if the child is possibly affected by Down Syndrome.

Treatment:

Bullying a person affected by Down Syndrome will result in them curling up in their cocoon with no development whatsoever. They need love and a lot of support from their family and friends to grow into someone happy and healthy. Getting treatment done from specialists and sending them to a special school will provide the much needed care and support. 

Let’s observe 21st March, 2018 as World Down Syndrome Day (#WDSD18), #WhatIBringToMyCommunity. The aim is to get people talking more about Down Syndrome without any inhibitions and raise the awareness.