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Down Syndrome

Down Syndrome. Nicole Tuggle Russell. What is Down Syndrome?. A genetic condition dealing with chromosome 21 that happens before birth Physical and mental delays, including language Similar p hysical traits Severity varies from person to person Is a lifelong condition. Statistics.

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Down Syndrome

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  1. DownSyndrome Nicole Tuggle Russell

  2. What is Down Syndrome? • A genetic condition dealing with chromosome 21 that happens before birth • Physical and mental delays, including language • Similar physical traits • Severity varies from person to person • Is a lifelong condition

  3. Statistics • 1 in every 691 babies in the U.S. are born with Down Syndrome • That is about 6,000 babies every year • Approximately 400,000 people in the U.S. have some form and degree of Down Syndrome • 40% of people with down syndrome have a congenital heart defect • Life expectancy is 55 years, up 25 years since 1983 • About 80% of women who receive a definitive prenatal diagnosis of down syndrome choose to terminate the pregnancy

  4. Maternal Age and Risk Level

  5. Causes of Down Syndrome • Abnormal cell division involving chromosome 21 • Can be a full or only a partial copy of the genetic material • Additional chromosome can come from either mother or father • Nondisjuction research has shown a link with the mothers age, however due to the higher birth rates 80% of children with down syndrome are born to mothers under 35 • Translocation research has not shown any link to the age of the mother • Occurs in all races and economic levels

  6. Diagnosis • Prior to Birth • Screening Tests, and Diagnostic • Screening – Blood test or sonogram, will not definitively diagnose • Diagnostic – Amniocentesis or CVS – 100% definitive but carry a risk for miscarriage • Video Link - http://www.webmd.com/baby/video/amniocentesis • After Birth • Physical Traits and Blood Tests • Other tests typically preformed • ECG, X-Rays of the chest and gastrointestinal tract

  7. Physical Traits • Low Muscle Tone – weak stomach muscles make to belly stick out • Flattened Nose • Upward Sloping Eyes • Short Wide Neck- May have excess skin and fat • Short (height) • Short Stocky Arms and Legs – some also have extra space between the big toe and second toe • Irregularly Shaped Mouth and Tongue • Irregular and Crooked Teeth • Small Ears

  8. Trisomy 21

  9. Trisomy 21 (Nondisjunction) • 95% of Down Syndrome cases are this type • Usually an error in cell division called nondisjunction • Happens either prior or at conception when a pair of 21st chromosomes fail to separate (can be either sperm or egg) • Results in 3 copies of the 21st chromosome instead of the usual 2 • Takes place in all of the cells in the body during cell replications

  10. Mosaicism

  11. Mosaicism • Only about 1% of all cases • Nondisjunction takes place in one. But not all cell divisions after fertilization. • 2 types of cells, some containing the usual 46, the others containing 47 with the extra 21st chromosome • May have fewer characteristics than others with different forms of Down Syndrome • Broad generalizations are not possible because of the wide range of abilities possessed by those with Down Syndrome

  12. Translocation

  13. Translocation • About 4% of all case • Only a portion of the 21st chromosome breaks off and reattaches itself on to another chromosome, typically the 14th • The total number of chromosomes is the usual 46 • However there is an extra portion of the 21st chromosome

  14. In The Classroom • Have the right to attend schools in their neighborhood, with those student that have no disabilities. • There should be high expectations for not only the students but also the teachers that teach them. • Related services such as speech and language, occupational and physical therapy. • Administrators must take the a leadership role in making sure all the best services and practices are being implemented for students. • Principals must recognize excellence in the students and not just the standardized tests which may not show the excellence of the special education students

  15. Continued • Students have the right to a curriculum that is individualized, functional, and future-oriented. • IEP’s should be completely personalized, and should respect the values and preferences of the parents and the student. • Schools must be future oriented to focus and improve the students life after school. Focusing on work and integrated community lives. Including training in the community. • Students have the right to be treated with dignity just as full citizens of the school’s community. • There should be NO labeling of the students. • Students should have the same access to events, facilities, and resources just as the students with no disabilities. • Must be recognized as individuals understanding that variations in behavior and health are not just a part of the human condition. • Schools must promote active parent and family involvement. The family not the school system that has the most long term interest for any child with disabilities.

  16. Image Sources • http://staff.jccc.net/pdecell/evolution/mutations/translocation.gif • http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/ • http://www.awesomeparents.com/wp-content/uploads/2010/06/picture160.jpg • http://1.bp.blogspot.com/_7EsogN2ZmgU/TEl3sAxV6AI/AAAAAAAAAtE/6uzyh9UAMR4/s320/Down+Syndrome.jpg

  17. Works Cited "Children's Health - Down Syndrome - Topic Overview." Web MD.Web MD, 20 July 2011. Web. Oct. 2012. <http:// children.webmd.com/tc/down-syndrome-topic- overview>. Down Syndrome Education Online. Down Syndrome Education International, n.d. Web. <http://www.down- syndrome.org>. "Facts About Down Syndrome." National Association for Down Syndrome. NADS, n.d. Web. Oct. 2012. <http:// www.nads.org/pages_new/facts.html>. Maggie. "Down Syndrome Statistics Turned Upside Down." 5 Minutes for Special Needs. N.p., 8 Jan. 2011. Web. Oct. 2012. <http://www.5minutesforspecialneeds.com/7329/ down-syndrome-statistics-turned-upside-down/>. "Position Statements - National Down Syndrome Congress.” Position Statements - National Down Syndrome Congress. National Down Syndrome Congress, n.d. Web. Oct. 2012. <http://ndsccenter.org/about-ndsc/position- statements/>. "What Is Down Syndrome?" - National Down Syndrome Society. N.p., n.d. Web. 12 Oct. 2012. <http:// www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/>

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