Down Syndrome Trisomy 21 Born with something extra
Researched and Compiled June 28, 2008 Valarie, Sandy, Leann, Joi, Gwendolyn
John Langdon Down Jérôme Lejeune
Down syndrome  (DS) impairment of cognitive function birth defects physical growth impairment  distinct facial appearance In the U.S. 1 in 733 live births 5,000 born each year
Born with a triple Chromosome 21
Trisomy 21 Mosaic  Down syndrome Translocation  Down syndrome Three Types are Recognized
Common physical features
Risk factors for DS Older maternal age Older paternal age Already having one child with DS Carriers of the genetic translocation
“ In ancient Greece, babies with disabilities  were left out in the elements to die.  We in America rely on prenatal genetic testing  to make our selections in private, but the effect  on society is the same.”  —  Patricia E. Bauer, Journalist, Down syndrome parent Former Washington Post bureau chief .
Prenatal testing for DS Triple test : AFP,  unconjugated  estriol and hCG Ultrasound  – nuchal translucency  Chorionic villus sampling Amniocentisis Percutaneous cord blood sampling
“ About 90 percent of pregnant women who are given a Down syndrome diagnosis have chosen  to have an abortion.” —  New York Times, May, 2007
Treatments for DS No medical cure Specialist team Care team Early intervention Continuing self-help skills
Congenital heart defects   Leukemia   Thyroid dysfunction Gastrointestinal problems Abnormal immune system Eye disorders, hearing loss Obstructive sleep apnea Early Dementia Health complications
Prognosis for DS Adults  with good self-help skills  can be expected to live into their 50s Those with poor self-help skills and live into their 40s.  Their lifespan continues to increase.
Down syndrome Seniors Peter Davison , died aged 68 Mary Perry ,  aged 73
“ Disability is a part of the natural human experience.” —  American Association of People with Disabilities
Down syndrome parents John and  Max McGinley  American Actor Platoon, “Scrubs” Sarah, Trig, and Todd Palin  She is the Governor of Alaska
March 21 http://www. worlddownsyndromeday .org/
Family Resources Local: Down Syndrome Association of Greater Richmond www.dsagr.com D.A.D.S.   (Dads Appreciating Down Syndrome)   www.virginiadads.org Good Neighbor Village   (residential community for adults with   Down syndrome)  www.goodneighborvillage.org Special Olympics Virginia   www.specialolympicsva.org National/International: National Down Syndrome Congress  www.ndsccenter.org National Down Syndrome Society  www1.ndss.org The ARC  (Association of Retarded Citizens)  www.thearc.org Christian Children’s Fund   www.christianchildrensfund.org
REFERENCES http://www.emedicine.com/ped/TOPIC615.HTM http://www.aafp.org/afp/20000815/825.html http://www.nads.org/pages_new/facts.html   http://www.mayoclinic.com/health/down-syndrome/ http://www.ds-health.com/ http://www.nytimes.com/2007/05/09/us/09down.html
 

Down Syndrome: Born with Extra

  • 1.
    Down Syndrome Trisomy21 Born with something extra
  • 2.
    Researched and CompiledJune 28, 2008 Valarie, Sandy, Leann, Joi, Gwendolyn
  • 3.
    John Langdon DownJérôme Lejeune
  • 4.
    Down syndrome (DS) impairment of cognitive function birth defects physical growth impairment distinct facial appearance In the U.S. 1 in 733 live births 5,000 born each year
  • 5.
    Born with atriple Chromosome 21
  • 6.
    Trisomy 21 Mosaic Down syndrome Translocation Down syndrome Three Types are Recognized
  • 7.
  • 8.
    Risk factors forDS Older maternal age Older paternal age Already having one child with DS Carriers of the genetic translocation
  • 9.
    “ In ancientGreece, babies with disabilities were left out in the elements to die. We in America rely on prenatal genetic testing to make our selections in private, but the effect on society is the same.” — Patricia E. Bauer, Journalist, Down syndrome parent Former Washington Post bureau chief .
  • 10.
    Prenatal testing forDS Triple test : AFP, unconjugated estriol and hCG Ultrasound – nuchal translucency Chorionic villus sampling Amniocentisis Percutaneous cord blood sampling
  • 11.
    “ About 90percent of pregnant women who are given a Down syndrome diagnosis have chosen to have an abortion.” — New York Times, May, 2007
  • 12.
    Treatments for DSNo medical cure Specialist team Care team Early intervention Continuing self-help skills
  • 13.
    Congenital heart defects Leukemia Thyroid dysfunction Gastrointestinal problems Abnormal immune system Eye disorders, hearing loss Obstructive sleep apnea Early Dementia Health complications
  • 14.
    Prognosis for DSAdults with good self-help skills can be expected to live into their 50s Those with poor self-help skills and live into their 40s. Their lifespan continues to increase.
  • 15.
    Down syndrome SeniorsPeter Davison , died aged 68 Mary Perry , aged 73
  • 16.
    “ Disability isa part of the natural human experience.” — American Association of People with Disabilities
  • 17.
    Down syndrome parentsJohn and Max McGinley American Actor Platoon, “Scrubs” Sarah, Trig, and Todd Palin She is the Governor of Alaska
  • 18.
    March 21 http://www.worlddownsyndromeday .org/
  • 19.
    Family Resources Local:Down Syndrome Association of Greater Richmond www.dsagr.com D.A.D.S. (Dads Appreciating Down Syndrome) www.virginiadads.org Good Neighbor Village (residential community for adults with Down syndrome) www.goodneighborvillage.org Special Olympics Virginia www.specialolympicsva.org National/International: National Down Syndrome Congress www.ndsccenter.org National Down Syndrome Society www1.ndss.org The ARC (Association of Retarded Citizens) www.thearc.org Christian Children’s Fund www.christianchildrensfund.org
  • 20.
    REFERENCES http://www.emedicine.com/ped/TOPIC615.HTM http://www.aafp.org/afp/20000815/825.htmlhttp://www.nads.org/pages_new/facts.html http://www.mayoclinic.com/health/down-syndrome/ http://www.ds-health.com/ http://www.nytimes.com/2007/05/09/us/09down.html
  • 21.