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Transcript

Introduction to Down Syndrome

Down Syndrome Symptoms

Genetics/Hereditary Information about down syndrome

Down Syndrome Video

Summary of Research

Bibliography

Vocab

Treatments

Down Syndrome is a hereditary disease that occurs in roughly 1 out of every 700 babies born in the United States, or about 6000 babies every year. Down syndrome is not inherited most of the time but instead is caused by a mutation in chromosome 21. The mutation causes an extra copy of chromosome 21 so instead of the usual two copies, there are three copies, which can affect how babies develop physically and mentally, usually slowing down their development. All people who are diagnosed with down syndrome develop at different rates, but they all usually develop slower than the average human and may have trouble with speaking and learning in school. The people most affected by down syndrome are babies who born when their mother is over 35.

Down syndrome is (mostly) not an inherited disorder but is caused by a mutation in the copying of an infant's gene 21, also known as Trisomy 21. Trisomy 21 is caused by a mutation in which all of a person's cells have 3 copies of chromosome 21 instead of two, which is the main type of down syndrome. Another option is cal Mosiac Down syndrome where only some of the cells have Trisomy 21. People with Mosaic Down Syndrome usually fare better than people with Trisomy 21 down syndrome in terms of a developmental standpoint. The final type of Down syndrome is called Translocation Down syndrome. People with this type of down syndrome have 3 copies of their 21 chromosome as well, but the extra copy becomes attached to another chromosome.

The physical symptoms of down syndrome include: flattened face, small head, short neck, protruding tongue, upward slanting eyelids, unusually shaped or small ears, poor muscle tone, broad and short hands with a single crease in the palm, relatively short fingers, and small hands and feet, excessive flexibility, tiny white spots on the iris, and short height. Children who have down syndrome will have intellectual problems and some developmental issues including delayed language. Keaton was born with down syndrome, as all people are, but his parents did not know how exactly to care for him. Before Keaton was even two years old, he had to have multiple surgeries to repair his club feet and his heart defects and his parents were very worried that he would never learn how to walk or even talk, but then they were told that Keaton should be raised the same way as any child, but with special speech therapies and physical therapies as well. How will the rest of Keaton's life go? Continue to read this story by clicking here

Down syndrome is caused by Trisomy 21, which means that you have an extra copy of your 21st chromosome, so instead of the normal two, you have three, which causes developmental and cognitive delays. To overcome these delays most babies will have to undergo physical and possibly speech therapy. Roughly one out of every 700 babies born in the USA is diagnosed with down syndrome. Down syndrome affects every person differently so they all grow and develop at different rates, but they are all still slightly slower than most people. There are different types of down syndrome, including Mosaic and Translocation. Here are some helpful FAQ's about Down Syndrome: Q: What are the causes of Down syndrome? A: As of today there are no known causes for Down syndrome but researchers and scientists are working on discovering the possible causes. However, Down syndrome is a result of Trisomy 21. The chances of having a baby with Down syndrome increase as the mother's age increases Down syndrome has nothing to do race or gender. There are multiple types of Down syndrome like Mosaic Down syndrome, where only some of the cell have Trisomy 21 resulting in less of the developmental delays. Another type is Translocation down syndrome, a type where the extra copy of the 21st chromosome attaches to a different chromosome. Q:What should you know about people who have Down syndrome in the USA? A: Today the average lifespan of a person with Down syndrome is 60 years, which is almost double than what it was in 1921. Most people with Down syndrome have some form of cognitive or developmental impairments. People with down syndrome all develop and learn at different rates, but almost all of them learn slower than average compared to people without down syndrome. Q:What are the challenges of Down syndrome? A: Lots of outdated and inaccurate information is being given to parents and other people who know kids with down syndrome, which is leading to a different treatment of people with down syndrome than normal people. There is also a very large lack of funding towards down syndrome research, which could be a possible reason that there is no cure for this disorder. There is not enough funding for people to be a part of educational studies, or surveys. Lots of people with Down syndrome are also not able to receive proper therapies in school.

https://www.downs-syndrome.org.uk/about/history-of-downs-syndrome-2/\ https://www.globaldownsyndrome.org/about-down-syndrome/facts-about-down-syndrome/ https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html https://medlineplus.gov/genetics/condition/down-syndrome/#:~:text=Most%20cases%20of%20Down%20syndrome%20are%20not%20inherited.,occasionally%20occurs%20in%20sperm%20cells https://www.youtube.com/watch?v=nguLcSzN7mM

Trisomy 21- A mutation where a person has an extra chromosome 21, so they have 3 copies of chromosome 21, rather than the normal two. Mosiac Down Syndrome- A version of Down syndrome where a person has Trisomy 21, but only in some of their cells not all of them like people with normal Down syndrome Translocation Down syndrome- A type of Down syndrome where the extra chromosome 21 attaches (translocates) to another chromosome so someone has a pair of different chromosomes.

There is no current cure for Down syndrome, or standardized treatment. People with Down syndrome all have different abilities and are all at different levels, so they all need to have personalized therapies and treatments, like speech or physical therapies. These two therapies will be different fro two different people with Down syndrome, because each person has different abilities and they are growing at different rates.