1 / 32

Down’s Syndrome

Down’s Syndrome. Zach Salinas Fergus Sharp. Medical Question #1. How does a person inherit Down’s Syndrome? Is it dominant or recessive?. Medical Answer #1. Down’s Syndrome is a genetic abnormality Individual has all or part of an extra 21 st chromosome Caused by nondisjunction

cathy
Download Presentation

Down’s Syndrome

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Down’s Syndrome Zach Salinas Fergus Sharp

  2. Medical Question #1 How does a person inherit Down’s Syndrome? Is it dominant or recessive?

  3. Medical Answer #1 • Down’s Syndrome is a genetic abnormality • Individual has all or part of an extra 21st chromosome • Caused by nondisjunction • Failure of chromosome to separate during meiosis • It is dominant • All persons possessing an extra 21st chromosome show signs of Down’s Syndrome

  4. Medical Question #2 What are the possible genotypes of the parents?

  5. Medical Answer #2 • Down Syndrome can be caused by pure chance, or genetic history • It is present in all populations and ethnicities • The disease is caused by the presence of part of, or an entire extra copy of the 21st chromosome (chromosomal abnormality)

  6. Medical Question #3 How prevalent is Down’s Syndrome in the population?

  7. Medical Answer #3 • The disease is present 1 in 733 births • The disease is more common in children with older parents • Older parents have increased mutagenic exposure to sex cells • The disease has the same approximate incidence in all populations and ethnicities

  8. Medical Question #4 What are the chances of a person with this disease passing the disease to their offspring? What are some scenarios where this might happen?

  9. Medical Answer #4 • Only 15-30 percent of women with down syndrome are fertile • Majority of people with down syndrome cannot reproduce • For fertile affected individuals, there is around a 50% chance that their children also will have Down’s Syndrome

  10. Medical Question #5 How is Down’s Syndrome diagnosed?

  11. Medical Answer #5 Down’s Syndrome usually detected by appearance Typical visual indicators: flat face short neck small head abnormally shaped ears small hands protruding tongue small feet poor muscle tone up-slanted eyes

  12. Medical Answer #5 Continued • If physical charaterisitics are present, Down’s Syndrome can be confirmed with karyotyping • Display of paired chromosomes 1 – 23 • Down’s Syndrome will appear with three 21’s • Pregnancy screenings • Include Aminocentesis and Chorionic villus sampling

  13. Medical Question #6 What are the physical symptoms of Down’s Syndrome?

  14. Medical Answer #6 • See the characteristics listed in answer #5 • Also can cause functional problems • Impaired hearing • Vision problems • Intestinal issues • Heart diseases • Thyroid disfunctions • Skeletal abnormalities • Dementia • And more…

  15. Medical Question #7 What is the normal life expectancy of someone with Down’s Syndrome?

  16. Medical Answer #7 • Approximately ¾ babies with down syndrome die in utero (before birth) • 15% die before reaching age 1 • 35% die before age 50 • The remaining 50 % will likely die between 55 and 65 years of age • Has increased substantially in recent years

  17. Medical Question #8 How can Down’s Syndrome be treated?

  18. Medical Answer #8 • Some patients undergo plastic surgery to reduce physical abnormalities in attempts to limit social stigma • Most patients undergo counseling and support • The subsequent issues caused by Down’s Syndrome are treated, but the disease itself is incurable

  19. Medical Question #9 What are some new treatments or research areas for Down’s Syndrome?

  20. Medical Answer #9 • Research into improving cognitive abilities of Down’s Syndrome patients • Stanford University researchers are working on identifying new targets to focus drugs on (DNA, proteins, etc.)

  21. Personal Question #1 What is everyday life like with Down’s Syndrome? What is the quality of life?

  22. Tasks normal for other people are much harder Trouble walking Trouble talking Decreased cognitive abilities Risks of organ and structural issues raised Skeletal misalignment Heart disease Intestinal issues Mental retardation (brain) Life expectancy lowered Very little independence due to issues with organs, retardation, and movement Social stigma against physical traits of Down’s syndrome being ugly Necessity for psychiatric help Frequent medical therapy for subsequent diseases caused by Down’s Syndrome Personal Answer #1

  23. Personal Answer #1 Continued

  24. Personal Question #2 What limitations does the affected person have?

  25. Personal Answer #2 • Mental retardation limits person’s ability to reason and react • Average IQ of affected individuals is half the average of unaffected people • Athletic limitations • People often struggle to even walk • Many participate in the Special Olympics, where competition standards are tailored to affected people

  26. Personal Question #3 What are some organizations that can help a family cope with having a child with Down’s Syndrome?

  27. Personal Answer #3 • National Down Syndrome Society • National Down Syndrome Congress • Down Syndrome Research Foundation & Resource Centre • Many more national, regional, and local organizations • See: http://www.kumc.edu/gec/support/down_syn.html

  28. Personal Question #4 How possible is it that a cure will be found?

  29. Personal Answer #4 • There is little to no chance that a cure will be found • This is due to the fact that it is a chromosomal problem • To solve the problem, the third copy of chromosome 21 would have to be removed from all cells

  30. "Down Syndrome." Learn.Genetics™. Web. 01 Mar. 2011. <http://learn.genetics.utah.edu/content/disorders/whataregd/down/>. Down Syndrome Research and Treatment Foundation - Home. Web. 01 Mar. 2011. <http://www.dsrtf.org/>. "Down Syndrome." University of Kansas Medical Center. Web. 01 Mar. 2011. <http://www.kumc.edu/gec/support/down_syn.html>. "Down Syndrome: What Is It?" Your Genes, Your Health. Web. 01 Mar. 2011. <http://www.ygyh.org/ds/whatisit.htm>. "Down Syndrome." Wikipedia, the Free Encyclopedia. Web. 01 Mar. 2011. <http://en.wikipedia.org/wiki/Down_syndrome>. "Down Syndrome:Trisomy 21 : American Pregnancy Association." Promoting Pregnancy Wellness : American Pregnancy Association. Web. 01 Mar. 2011. <http://www.americanpregnancy.org/birthdefects/downsyndrome.html>. Works Cited

  31. Bert Hollbrook. Digital image. Man with Down's Syndrome Is Going for the Record; He's 80. PatriciaEBauer, 3 Sept. 2008. Web. 1 Mar. 2011. <http://www.patriciaebauer.com/2008/09/03/oldest-living-3081/>. Child with Down Syndrome. Digital image. The Down Syndrome In Children. Methods of Healing, 2011. Web. 1 Mar. 2011. <http://www.methodsofhealing.com/the-down-syndrome-in-children/>. Down Syndrome. Digital image. Down Syndrome Symptoms. Down Syndrome Symptoms. Web. 1 Mar. 2011. <http://downsyndromesymptoms.com/>. Down's Syndrome Boy. Digital image. Downs Syndrome. Web. 1 Mar. 2011. <http://sites.google.com/site/downssydromecom/>. Down's Syndrome Embryo. Digital image. Defects Go Unnoticed In Prenatal Screening. The MedGuru, 2 June 2008. Web. 1 Mar. 2011. <http://www.themedguru.com/articles/defects_go_unnoticed_in_prenatal_screening-7324151.html>. Down's Syndrome Kids. Digital image. Down Syndrome (Trisomy 21). Tripod. Web. 1 Mar. 2011. <http://savannah5831.tripod.com/>. Graphic Citations

  32. Father with Oldish Child with Down Syndrome. Digital image. Down Syndrome Children and Down Syndrome Pictures. CDADC, 2010. Web. 1 Mar. 2011. <http://www.cdadc.com/ds/down-syndrome-children-down-syndrome-pictures.html>. Gail Blair. Digital image. PatriciaEBauer, 10 Mar. 2008. Web. 1 Mar. 2011. <http://www.patriciaebauer.com/category/down-syndrome/page/67/>. NDSS Logo. Digital image. Helpful Links. Down Syndrome Network of Greater Greensboro. Web. 1 Mar. 2011. <http://www.fsncc.org/DSNGG_Links.html>. Nondisjunction. Digital image. Human Chromosomal Disorders. IUPUI Department of Biology, 24 Mar. 2004. Web. 1 Mar. 2011. <http://www.instruction.greenriver.edu/kmarr/Biology100/Bio100Lab/Human%20Chromosomal%20Disorders/2k4csomaldisordersnotes.html>. People with Down's Syndrome. Digital image. Prenatal Testing for Down Syndrome Demands Better Information for Parents. Mommy Life, 1 Aug. 2007. Web. 1 Mar. 2011. <http://mommylife.net/archives/2007/08/prenatal_testin.html>. Scientists Lab. Digital image. Gas Chromatography/Mass Spectrometry Test Service. Angelscope, 2010. Web. 1 Mar. 2011. <http://www.earlydrugtesting.co.uk/gc_ms_test.htm>. Special Olympics. Digital image. Special Olympics. The PhotoEdit Blog., 13 Aug. 2009. Web. 1 Mar. 2011. <http://photoeditblog.wordpress.com/2009/08/13/august-11-2009-special-olympics/>. Trisomy 21 Karyotype. Digital image. Down Syndrome. Learn. Genetics, 2011. Web. 1 Mar. 2011. <http://learn.genetics.utah.edu/content/disorders/whataregd/down/>. Graphic Citations Continued

More Related