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                                               Down Syndrome

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                                               Down Syndrome

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By Corey Scofield

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("Down Syndrome," 2018).

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                                               Description

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                                               Description

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A chromosomal mutation that results in intellectual disability, the characteristic facial appearance you see above, and hypotonia in infancy. Approximately 1 in every 700 babies in the U.S. is born with down syndrome ("NDDS," 2018). Most cases of down syndrome are not inherited but are rather a chromosomal abnormality. These individuals have 47 chromosomes instead of the normal 46. This condition is usually diagnosed at birth but can sometimes take up to a year to be recognized when developmental delay may be more obvious. Developmental delay and behavioral problems are the worst symptoms associated with down syndrome. You may also see a short stature, short neck, and short hands, along with the facial appearance noted above. The life expectancy of individuals with down syndrome is around 60 years old, but we often see these people living well into their 70s ("Down Syndrome," 2018).

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                       Importance of Understanding the Disorder 

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                       Importance of Understanding the Disorder 

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It is extremely important to understand this disorder because of the amount of people that have down syndrome. I would be willing to bet that almost everyone has been exposed to an individual with this disorder. I, myself have a very close friend whose younger sister has down syndrome. One of the most inspiring things I have learned from her was that they want everyone to know that they are more like us than they are different from us. They are faced with with more challenges than the average everyday human being but they overcome those challenges and often times lead happy healthy lives. The video below speaks to the importance of why we should all understand what life with down syndrome is like and why it's so important for us to understand it.

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                      Frank Stephans Speech on Down Syndrome

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                      Frank Stephans Speech on Down Syndrome

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Frank Stephens' POWERFUL Speech On Down Syndrome

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Frank Stephens, a young man living with Down Syndrome, gives a powerful speech on his life experience and the importance of people living with Down Syndrome in science and research.

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                                             Genetic Changes

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                                             Genetic Changes

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The most common form of down syndrome, about 95% of all patients, results from trisomy 21. This means that each cell in the body has 3 copies of chromosome 21 instead of the usual 2. This happens because of an error in cell division called nondisjunction, usually occurring during maternal meiosis (Nussbaum, McInnes, & Willard, 2016). Around 2% of all down syndrome patients are mosaic for 2 cell populations. One with a normal karyotype and one with a trisomy 21 karyotype. The phenotype in these individuals may be milder than that of typical trisomy 21, but it should be noted that there is a wide variability in phenotypes among mosaic  patients (Nussbaum, McInnes, & Willard, 2016). Below you can see the extra chromosome with chromosome 21, causing down syndrome.

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                                                   Prevalence 

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                                                   Prevalence 

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The estimated concurrence of down syndrome is believed to be anywhere from 1 in 1,000 to 1 in 1,100 live births worldwide. Approximately 3,000 to 5,000 people are born each year with down syndrome and it's estimated that about 250,000 families in the U.S. are affected by down syndrome ("Genes and Human," 2018).

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                                             Diagnostic Tests

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                                             Diagnostic Tests

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Screening for down syndrome is now offered as a routine part of prenatal care. There are many forms of diagnostic tests that can be done to identify the risks of carrying a baby with the disorder. A blood test may be done to measure the levels of pregnancy- associated plasma protein-A and human chorionic gonadotropin. Abnormal levels may indicate a problem with the baby. A nuchal translucency test can also be done to measure the amount of fluid on the back of your babies neck. More fluid tends to collect there when abnormalities are present. More tests used to confirm a diagnosis consist of chorionic villus sampling and an amniocentesis ("Down Syndrome," 2018).

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                                                  Treatments

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                                                  Treatments

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No single standard treatment for down syndrome exists. Treatment is individually based on that individuals specific level of disability. The team of health care professionals that may treat individuals with this disorder might include physicians, special educators, speech therapists, occupational therapists, physical therapists, and social workers ("What are common," 2017).

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                                              Current Studies 

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                                              Current Studies 

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Research surrounding down syndrome is ongoing. Many studies are still taking place for us to get a better understanding of the disorder. For information on some of these studies follow the links provided below.
https://www.sciencedaily.com/news/health_medicine/down's_syndrome/
https://www.ndss.org/resources/current-research/

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                                                  References

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                                                  References

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Down Syndrome. (2018). Mayo clinic. Retrieved from https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977

Down Syndrome. (2018). Retrieved from https://ghr.nlm.nih.gov/condition/down-syndrome#inheritance

Genes and Human Disease. (2018). Retrieved from http://www.who.int/genomics/public/geneticdiseases/en/index1.html

National Down Syndrome Society (NDSS). (2018). Down syndrome. Retrieved       from https://www.ndss.org/about-down-syndrome/down-syndrome/.

Nussbaum, R., McInnes, R., & Willard, H. (2016). Thompson & Thompson genetics in medicine (8th ed.). Philadelphia, PA: Elsevier.

[Reflect]. (2017, Oct 27). Frank Stephans' powerful speech on down syndrome [Video File]. Retrieved from https://www.youtube.com/watch?v=yQJEoRhkapw

What are Common Treatments for Down Syndrome? (2017). Retrieved from https://www.nichd.nih.gov/health/topics/down/conditioninfo/treatments