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Down Syndrome 101

My name is Anusha and I am 19 years old. My interests include medicine, astronomy, art and chess.

 

The UN states that Down Syndrome occurs in about 1 in 1,000 to 1 in 1,100 live births

worldwide. 1 It is one of the most common chromosomal disorders globally.



What exactly is Down Syndrome?

Down Syndrome is a chromosomal disorder which results from a genetic mutation. Chromosomes are found in body cells and contain genetic material (genes). A typical person has 46 chromosomes while someone with Down Syndrome is born with 47 chromosomes. The extra chromosome is an extra full or partial copy of Chromosome 21.


The occurrence of an extra separate chromosome is referred to as Trisomy.

(Trisomy 21 in the case of Down Syndrome) The extra genetic material in this extra chromosome copy is associated with developmental delays and distinct physical features in children with Down Syndrome.


Other Types of Down Syndrome:

Apart from Trisomy 21 (the most common type of Down Syndrome), there is also

Translocation Down Syndrome and Mosaic Down Syndrome which are both

rare and combined account for less than 5% of all cases.


Translocation Down Syndrome - the extra or partial copy of Chromosome 21

is attached to another numbered chromosome (it is not separate)

Mosaic Down Syndrome - some body cells contain 47 chromosomes, but

other body cells contain the typical 46 (without the extra copy of chromosome 21)


Some Outward features of Down Syndrome:

● Almond shaped eyes, slanted upwards

● Flattened face, usually at nose bridge

● Short neck

● Small ears

● Single palmar crease

● Poor muscle tone

● Small hands and feet

● Shorter as children and adults


Some medical problems associated with Down Syndrome:

● Congenital Heart Defects

● Hearing and vision problems

● Gastrointestinal problems

● Sleep Apnea


Risks for Down Syndrome?

Down Syndrome is the result of a random occurrence during cell division and cannot be prevented. It is noted that the risk of such divisions increases with a mother’s age with those over 35 having a higher likelihood of their pregnancy being affected by Down Syndrome.


Diagnosis of Down Syndrome:

There are multiple ways by which Down Syndrome is diagnosed before or after birth.

These include:

● Prenatal screening tests (blood tests or ultrasound)

● Diagnostic tests during pregnancy

● Checking for physical signs after birth

● Blood tests of baby after birth


Are there any treatments for Down Syndrome?

Down Syndrome is a lifelong condition with no cure. However, with adequate care and a supportive environment, persons with Down Syndrome can go on to live long fulfilling lives.


Treatment usually includes speech therapy, occupational or physical therapy, specialist care for any underlying conditions and provision of any special education needs.


Global Awareness for Down’s Syndrome

World Down Syndrome Day is celebrated every year on March 21st!

This year’s theme was With Us Not For Us, celebrating the rights of those with Down Syndrome as any other persons, encouraging fairness and equal opportunities to improve lives. Every year, you can show your support in stimulating Down Syndrome Awareness by joining the #LotsOfSocks campaign wearing long, colourful or mismatched socks on March 21st!

 

I hope you found this article useful! To learn more about Down Syndrome, you can visit the Global Down Syndrome Foundation or the Down Syndrome Resource Foundation.


Please note this article serves only as an informative resource and does not constitute any medical advice. Consult your physician regarding any concerns.


Works Cited:

1. United Nations (n.d.). World Down Syndrome Day 21 March. Retrieved March

30, 2023, from https://www.un.org/en/observances/down-syndrome-day

2. National Center on Birth Defects and Developmental Disabilities, Centers for

Disease Control and Prevention. (2022, November 18). Facts about Down

Syndrome. Retrieved March 30, 2023, from

https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html

3. Mayo Clinic (2018, March 8). Down syndrome. Retrieved March 30, 2023, from

https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-

causes/syc-20355977

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