I saw an article today on the CBC News website about how some Toronto police officers were making fun of a child with Down Syndrome. We don’t need to discuss how extremely inappropriate and insensitive it is, what I wanted to do was learn about it.

What is Down Syndrome (DS)
– a genetic condition that is associated with intellectual disability, a characteristic facial appearance and weak muscle tone
may cause a variety of birth defects including heart defects or digestive abnormalities
– also causes the person to have a higher risk of developing several medical conditions including acid re-flux, gluten allergies, hearing and vision problems
– causes speech and language learning to develop later and more slowly than children without Down syndrome
– can cause behavioral issues such as attention problems, stubbornness or tantrums

What causes it?
– it occurs (both randomly and naturally) when an individual has a full or partial extra copy of chromosome 21 which is a rod-like structure that carry the codes responsible for all our inherited traits (height, eye color, hair color, blood type etc)
– unknown whether environmental factors or parental activity affects this

How Common is it?
– occurs to people of all races and economic levels
– older women have an increased chance of having a child with Down syndrome
– while a mother at the age of 20 has a 1 in 2000 chance, a mother of age 30 has a 1 in 900 chance, and even more shockingly, a mother at age 49 has a 1 in 10 chance
– approximately 200,000 people in the US (45,000 in Canada) have the condition

Why Age Matters:
– more couples are postponing parenthood until later in life, which will increase the chance of Down syndrome births

Ways to test before birth:
– most tests involve a blood test or ultrasound/sonogram
– while having a high accuracy rate (~99%), it is not definitive

Ways to test after birth:
– usually identified by physical traits: low muscle tone, a single deep crease across the palm of the hand, a slightly flattened facial profile and an upward slant of the eyes
– a blood test called a karyotype which analyzes the chromosomes

Additional Learning Opportunities:
There are 3 different types of Down Syndrome:
Trisomy 21 (the most common at 95%; each cell has 3 copies of chromosome 21), translocation and mosaicism (occuring at 4%)

Only 1% of all cases have a hereditary component, which is it being passed from parent to child through genes. Down syndrome occurs as a random event during the formation of reproductive cells in a parent.

In 1910, children with Down syndrome were expected to survive to the age of 9. The discover of antibiotics increased it to approximately 20 and with recent advancements, 80% of adults with Down syndrome reach the age of 60.

It is NOT a disease, disorder, defect or medical condition, thus does not require treatment, prevention or a cure. Some people with DS may have a intellectual disability, but the DS community is strongly against using the description of “mentally retarded.”

 

For more information here are some links:
National Down Syndrome Society
Genetics Home Reference
Kids Health 
Canadian Down Syndrome Society

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