Down Syndrome presentation

1. Down Syndrome
Alexander Petkov

2. Definiton
 Down syndrome is a genetic disorder caused by an
extra copy of chromosome 21. It impairs physical and
mental development and causes various physical and
mental disorders.
 Extra chromosomes affect physical development in
many ways, including physical growth, facial features,
and cognitive abilities.

3. Symptoms
 Down syndrome can cause a variety of physical and
mental symptoms, including low muscle tone, short
stature, flat facial features, and cognitive delays.
 People with Down syndrome may also have vision
and hearing problems, heart defects, and other
health problems.

4. Cause
 Down syndrome is caused by mutations in the
21st chromosome that result in extra copies of
that chromosome in some or all of the body's
cells.
 This extra chromosome can cause a variety of
physical and mental disorders, depending on the
individual and the severity of the mutation.

5. Inherited
 Down syndrome can be inherited from either parent,
regardless of gender. It is a recessive disorder and
both parents must carry the mutated gene for a child
to have Down syndrome.
 It is estimated that 1 in 700 of her babies are born with
Down syndrome, making him one of the most
common genetic disorders.

6. Treatment
 There is no cure for Down syndrome, but there are
treatments to relieve symptoms. These treatments
include physical, occupational, and speech therapy,
and medications to support physical and mental
health.
 Gene therapy is also being investigated as a
treatment for Down syndrome, although it is still in
the early stages of research.

7. Diagnostic Tests
 Down syndrome can be diagnosed prenatally or
postnatally. Tests to diagnose Down syndrome include
amniocentesis, chorionic villus sampling, and
ultrasound.
 Genetic counseling is also recommended to help
people with Down syndrome understand the impact
of the disorder and provide support and resources.

8. Frequency in the population
 About 6,000 babies are born with Down
syndrome each year in the United
States. This means that about 1 in 700
babies will develop Down syndrome.

9. Article slide
 Here are 3 interesting facts that I found, while conducting the research:
 DS is the most common chromosomal abnormality diagnosed in the United States. About 6,000
babies (1 in 700) are born with DS each year.
 Down syndrome is nothing new. In fact, the first evidence of its existence dates to 2,500 years
before him. DS facial features can be found on some old pottery and paintings. The syndrome is
named after the English physician John Langdon, who published his clinical description in 1866.
 Doctors use maternal blood tests and ultrasounds to detect DS in early pregnancy. Because the
condition is more likely to occur in pregnant women over the age of 35, screening tests are often
recommended for this age group. More invasive prenatal diagnostic tools (such as amniocentesis
and chorionic villus sampling) can diagnose or confirm DS if a screening test

10. Thank you for your attention!

11. Sources:
 Google. (n.d.). FACT IMAGE. Google image result for https://charityvillage.com/wp-content/uploads/2019/12/facts_feature.png. Retrieved November 25, 2022, from https://www.google.com/imgres?imgurl=https%3A%2F%2Fcharityvillage.com%2Fwp-
content%2Fuploads%2F2019%2F12%2Ffacts_feature.png&imgrefurl=https%3A%2F%2Fcharityvillage.com%2Fthe-facts-on-facts-using-data-effectively-for-
change%2F&tbnid=k2OTnwkD2TTRyM&vet=12ahUKEwjcofLfu8n7AhXt5bsIHYSpBdQQMygDegUIARDbAQ..i&docid=TsAVPBrQKuZqyM&w=1067&h=600&q=facts&safe=active&ved=2ahUKEwjcofLfu8n7AhXt5bsIHYSpBdQQMygDegUIARDbAQ
 (no date) Google image result for https://stewarthome.com/wp-content/uploads/2017/07/IMG_8631-3.jpg. Google. Available at: https://www.google.com/imgres?imgurl=https%3A%2F%2Fstewarthome.com%2Fwp-content%2Fuploads%2F2017%2F07%2FIMG_8631-
3.jpg&imgrefurl=https%3A%2F%2Fstewarthome.com%2Fdownsyndromeisbeautiful%2F&tbnid=2jJFFuTJRUY_qM&vet=10CHUQMyiaAWoXChMIkP-apLnJ-wIVAAAAAB0AAAAAEAI..i&docid=DC-
dPx_Ns9w8AM&w=1700&h=1133&q=what+is+down+syndrome%3F&hl=en&safe=active&ved=0CHUQMyiaAWoXChMIkP-apLnJ-wIVAAAAAB0AAAAAEAI (Accessed: November 25, 2022).
 Down syndrome (2018) Mayo Clinic. Mayo Foundation for Medical Education and Research. Available at: https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977 (Accessed: November 25, 2022).
 Down syndrome (no date) MedlinePlus. U.S. National Library of Medicine. Available at: https://medlineplus.gov/downsyndrome.html#:~:text=Down%20syndrome%20cannot%20be%20cured,syndrome%20live%20happy%2C%20productive%20lives. (Accessed: November 25, 2022).
 UCSF Health (2022) Prenatal testing for down syndrome, ucsfhealth.org. UCSF Health. Available at: https://www.ucsfhealth.org/education/prenatal-testing-for-down-
syndrome#:~:text=Amniocentesis%2C%20chorionic%20villus%20sampling%20(CVS,problems%20such%20as%20Down%20syndrome. (Accessed: November 25, 2022).
 Data and statistics on Down Syndrome (2020) Centers for Disease Control and Prevention. Centers for Disease Control and Prevention. Available at:
https://www.cdc.gov/ncbddd/birthdefects/downsyndrome/data.html#:~:text=Down%20syndrome%20continues%20to%20be,in%20every%20700%20babies%20born. (Accessed: November 25, 2022).
 4 Minute ReadMedically Reviewed by UPMCJanuary 26, 2021 (2021) Down syndrome: 10 facts you should know, UPMC HealthBeat. Available at: https://share.upmc.com/2021/01/10-facts-about-down-syndrome/ (Accessed: November 25, 2022).
 Stock images, photos, vectors, video, and music (no date) Shutterstock. Available at: https://www.shutterstock.com/ (Accessed: November 25, 2022).
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