down syndrome: born with extra

21
Down Syndrome Trisomy 21 Born with something extra

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Down SyndromeTrisomy 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 andlive 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 ActorPlatoon, “Scrubs”

Sarah, Trig, and Todd Palin She is the Governor of Alaska

Family ResourcesLocal:

Down Syndrome Association of Greater Richmondwww.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.orgNational/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