Cognitive/ Intellectual Disability

1. Danielle Sorenson

2. What is Down Syndrome?
• A congenital disorder arising from a chromosome defect, causing
intellectual impairment and physical abnormalities including short
stature and a broad facial profile. It arises from a defect involving
chromosome 21, usually an extra copy.
• Description: The most common form of Down syndrome is known as
trisomy 21, a condition where individuals have 47 chromosomes in
each cell instead of 46. Trisomy 21 is caused by an error in cell
division called nondisjunction, which leaves a sperm or egg cell with
an extra copy of chromosome 21 before or at conception.
• Sources: www.medicalnewstoday.com/articles/145554.php

3. Symptoms, Facts, & stereotypes
• Physical Symptoms:
• Eye shape like almonds
• Flatter faces
• Small Ears
• Tongue that sticks out of the
mouth
• White spots in the colored part of
the eye
• Small hands and feet
• Low muscle tone
• Small head
• Short neck
• Short height
• Mental Symptoms:
• Down Syndrome affects a person’s
ability to think, reason,
understand, and be social. These
affects range from mild to
moderate. Children with Downs
Syndrome often take longer to
reach important goals like
crawling, walking, and talking. It
may also take more time for these
kids to be able to get dressed and
use the bathroom on there own.
In school they may need help with
things like learning to read and
write.
• Sources:
http://www.webmd.com/children
/understanding-down-syndrome-
symptoms#1

4. Support/Treatment options
• Unfortunately Down Syndrome cannot be cured. But there are many
treatments that can help people with Down Syndrome to live productive
lives into adulthood.
• Children with Downs Syndrome can benefit from many therapy options
to help improve their motor skills. For example, speech therapy,
occupational therapy, and exercises are a few things that can help a child
with Down Syndrome motor skills.
• The medical problems a person can face with Downs Syndrome are
cataracts, hearing problems, thyroid problems, and seizure disorders.
These things can be treated or corrected though.
• It has been suggested that children with Down Syndrome might benefit
from medical treatment that includes amino acid supplements and a
drug known as Piracetam. Piracetam is a drug that some people believe
may improve the ability of the brain to learn and understand. However,
there have been no controlled clinical studies with Piracetam to date in
the U.S. or elsewhere that show its safety and efficacy.
• Sources: http://www.mychildwithoutlimits.org/understand/down-syndrome/down-syndrome-treatment/

5. Possible Causes
• Down syndrome is caused by an extra copy of genetic material on all or part of the 21st chromosome.
Every cell in the body contains genes that are grouped along chromosomes in the cell's nucleus. There
are normally 46 chromosomes in each cell, 23 inherited from the mother and 23 from the father. When
some or all of a person's cells have an extra full, or partial, copy of chromosome 21, the result is Down
syndrome. The most common form of Down syndrome is known as trisomy 21, a condition where
individuals have 47 chromosomes in each cell instead of 46. Trisomy 21 is caused by an error in cell
division called nondisjunction, which leaves a sperm or egg cell with an extra copy of chromosome 21
before or at conception. This variant accounts for 95 percent of Down syndrome cases.
• The remaining 5 percent of Down syndrome cases are due to conditions called mosaicism and
translocation. Mosaic Down syndrome results when some cells in the body are normal while others have
Trisomy 21. Robertsonian translocation occurs when part of chromosome 21 breaks off during cell
division and attaches to another chromosome (usually chromosome 14). The presence of this extra part
of chromosome 21 causes some Down syndrome characteristics.
• Also, woman over the age of 35 are more likely to give birth to a child with downs syndrome. 1 in 1,000
babies are born with down syndrome in women less than 30 compared to about 12 in 1,000 for women
over 40.
• Source: http://www.medicalnewstoday.com/articles/145554.php

6. My “Special” Video
• https://www.youtube.com/watch?v=tZ7l-lFJpR0