2. Down Syndrome is also calledTrisomy 21 Trisomy21 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 pregnancy It 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 birth Excess skin at the nape of the neck Flattened nose Upward slanting eyes Small ears Small mouth Wide, short hands with short fingers Separated joints between the bones of the skull Single crease in the palm of the hand White 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 defects Gastrointestinalabnormalities Lymphatic leukemia Eye and ear problems Underactive thyroid Hip and joint problems
7. Children may have delayed mental and social development. Impulsive behavior Poor judgment Short attention span Slow learning
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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.
14. References: The National Down Syndrome Society Website: http://www.ndss.org/index.php Down Syndrome Indiana Website: http://www.dsindiana.org/ Kids Health Website: http://kidshealth.org/parent/medical/genetic/down_syndrome.html Medicine Plus Website: http://www.nlm.nih.gov/medlineplus/ency/article/000997.htm Dorlan, W.A Newman, Dorland’s pocket 28th Edition Medical Dictionary Philadelphia, PA: Elsevier Saunders, 2009 Images: http: ucl.ac.uk http: disaboomlive.com http: cameronwelker51.blogspot.com http: thegreenparent.com http: healthbama.com http://www.ndss.org http://www.dsindiana.org/
Editor's Notes
Hi, this is virtual Teri and my presentation is about Down Syndrome.
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.
