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Down Syndrome

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Down syndrome is a genetic condition caused by an extra copy of chromosome 21. It causes delays in mental and physical development. Common physical signs include a flattened nose, upward slanting eyes, and separated skull bones. While there is no cure, treatments focus on managing medical conditions like heart defects. People with Down syndrome can live independently into middle age but have an increased risk of dementia. Advocacy groups like the National Down Syndrome Society provide support and raise funds for research.

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Living withDown Syndromeby Teri White-Griffin
Down Syndrome is also calledTrisomy 21Trisomy21 is a congenital condition that makes an extra copy of the 21st chromosome. This extra chromosomecauses mental and physical developmental delays.
Testing for Down Syndromeduring pregnancyIt affects about 1 in every 800 babies.Women age 35 and older have a higher risk of having a child with the condition.Amniocentesisis used to detect possible abnormalities in unborn children.
Common physical signs include:Decreased muscle tone at birthExcess skin at the nape of the neckFlattened noseUpward slanting eyesSmall earsSmall mouthWide, short hands with short fingersSeparated joints between the bones of the skull Single crease in the palm of the handWhite spots on the colored part of the eye
Mosaic Down Syndrome About 2% to 4% of Down syndrome cases are mosaic. Mosaic Down syndrome only affects some cells in the body and the rest of the cells are unaffected. Mosaic Down syndrome can sometimes go undetected, because the person doesn’t have all the physical features.
Currently, there is no cure for Down Syndrome.Treatments are aimed at fixing medical conditions that occur because of the syndrome. Down Syndrome medical conditions may include:Congenital heart defectsGastrointestinalabnormalitiesLymphatic leukemia Eye and ear problemsUnderactive thyroidHip and joint problems
Children may have delayed mental and social development.Impulsive behaviorPoor judgmentShort attention spanSlow learning
People with Down syndrome are living longer than ever before.They can live well into the 40s and 50s.
They can live independent and productive lives.Most adults living with Down Syndrome have an increased risk of dementia.
The mission of the National Down Syndrome Society is to be an advocate for the value, acceptance and inclusion of people with Down syndrome.National Down Syndrome Society or NDSS has provided more than $3 million towards direct research.Indiana Down Syndrome participates in the NDSS sponsored Buddy Walk campaign to raise money for Down Syndrome research.
Down Syndrome Indiana offers a number of programs and services on their website.        New Parent Information & Resource Packets        Support for research and advocacy        Financial assistance for youth who attend Camp        Informational and Educational Conferences        Parent Support Groups        Mom’s Night Out events        Family Picnics        Self Advocates meetings and social activities
Raising Awareness Early childhood education will help with community inclusion. Click this video from the NDSS to see an example. Please wait for the file to load.
Chart of word parts and combining forms (CF)

More Related Content

Down Syndrome

  • 1. Living withDown Syndromeby Teri White-Griffin
  • 2. Down Syndrome is also calledTrisomy 21Trisomy21 is a congenital condition that makes an extra copy of the 21st chromosome. This extra chromosomecauses mental and physical developmental delays.
  • 3. Testing for Down Syndromeduring pregnancyIt affects about 1 in every 800 babies.Women age 35 and older have a higher risk of having a child with the condition.Amniocentesisis used to detect possible abnormalities in unborn children.
  • 4. Common physical signs include:Decreased muscle tone at birthExcess skin at the nape of the neckFlattened noseUpward slanting eyesSmall earsSmall mouthWide, short hands with short fingersSeparated joints between the bones of the skull Single crease in the palm of the handWhite spots on the colored part of the eye
  • 5. Mosaic Down Syndrome About 2% to 4% of Down syndrome cases are mosaic. Mosaic Down syndrome only affects some cells in the body and the rest of the cells are unaffected. Mosaic Down syndrome can sometimes go undetected, because the person doesn’t have all the physical features.
  • 6. Currently, there is no cure for Down Syndrome.Treatments are aimed at fixing medical conditions that occur because of the syndrome. Down Syndrome medical conditions may include:Congenital heart defectsGastrointestinalabnormalitiesLymphatic leukemia Eye and ear problemsUnderactive thyroidHip and joint problems
  • 7. Children may have delayed mental and social development.Impulsive behaviorPoor judgmentShort attention spanSlow learning
  • 8. People with Down syndrome are living longer than ever before.They can live well into the 40s and 50s.
  • 9. They can live independent and productive lives.Most adults living with Down Syndrome have an increased risk of dementia.
  • 10. The mission of the National Down Syndrome Society is to be an advocate for the value, acceptance and inclusion of people with Down syndrome.National Down Syndrome Society or NDSS has provided more than $3 million towards direct research.Indiana Down Syndrome participates in the NDSS sponsored Buddy Walk campaign to raise money for Down Syndrome research.
  • 11. Down Syndrome Indiana offers a number of programs and services on their website.        New Parent Information & Resource Packets        Support for research and advocacy        Financial assistance for youth who attend Camp        Informational and Educational Conferences        Parent Support Groups        Mom’s Night Out events        Family Picnics        Self Advocates meetings and social activities
  • 12. Raising Awareness Early childhood education will help with community inclusion. Click this video from the NDSS to see an example. Please wait for the file to load.
  • 13. Chart of word parts and combining forms (CF)
  • 14. References:The National Down Syndrome Society Website: http://www.ndss.org/index.phpDown Syndrome Indiana Website: http://www.dsindiana.org/Kids Health Website: http://kidshealth.org/parent/medical/genetic/down_syndrome.htmlMedicine Plus Website: http://www.nlm.nih.gov/medlineplus/ency/article/000997.htmDorlan, W.A Newman, Dorland’s pocket 28th Edition Medical Dictionary Philadelphia, PA: Elsevier Saunders, 2009Images:http: ucl.ac.ukhttp: disaboomlive.comhttp: cameronwelker51.blogspot.comhttp: thegreenparent.comhttp: healthbama.comhttp://www.ndss.orghttp://www.dsindiana.org/

Editor's Notes

  1. Hi, this is virtual Teri and my presentation is about Down Syndrome.
  2. Normal count is 46 chromosomes: 23 from the mother and 23 from the father. In most cases of Down syndrome, a child gets an extra chromosome 21 — for a total of 47 chromosomes instead of 46.