Down Syndrome

Bibliography

2008-04-23T18:55:00.000-07:00

"Down Syndrome." Kids Health. 2008. Nemours Foundation. 23 Apr. 2008
http://kidshealth.org/parent/medical/genetic/down_syndrome.html.

2007. Down Syndrome. 23 Apr. 2008http://www.revolutionhealth.com/healthy-.

23 Apr. 2008 http://embryology.med.unsw.edu.au/Defect/images/down_syndrome.jpg.

23 Apr. 2008 http://test.cvtcollege.org/Ac_Programs/dms_vascular/images/03C0B067CF5743D3BD1331B3D1C79C01.jpg.

Manchester. 23 Apr. 2008 .http://nscfa.web.its.manchester.ac.uk/images/Fetal/DSA%20images/Errington2.jpg

Diagnostic and Screening Tests for DS

2008-04-23T18:23:00.000-07:00

Screening Tests:

Nuchal translucency testing- This test uses ultrasoung to measure the clear space in the back of the baby's neck. The measurement along with the mother's age can be used to tell if the baby has DS. This test is usually accurate 80% of the time.
The triple screen- This takes the mother's age along with substances tested in the mother's blood to predict if the baby has DS.
A detailed ultrasound- This, in conjunction with blood tests, looks at the baby for physical characteristics associated with DS. It is 60% correct.

Diagnostic Tests:

Amniocentesis- This pulls a small amount of amniotic fluid from the abdomen. The fluid is then tested for chromosomal abnormalities.
Chorionic villus sampling (CVS)- This test pulls a tiny sample from the placenta for testing. CVS can be used to test the baby sooner than Amniocentesis but has a better chance for a miscarriage.
Percutaneous umbilical blood sampling (PUBS)- This takes blood from the umbilical cord to test. Has the same risks as amniocentesis.

While Diagnostic tests are more reliable at 99%, they carry a risk of miscarriage. Screening tests are safer, but less reliable than Diagnostics.

How To Treat Some of The Medical Problems of DS

2008-04-22T08:16:00.000-07:00

There is no cure to the actual disease of DS, but treatment is still needed for the issues that people with DS face. Help may be needed in the young stages of life as DS babies need extra help in learning to roll over and move due to their low muscle tone. Also, help may be needed for coordination, speech, and other develpomental milestones that are delayed from having the disease. All of the other diseases like coginal heart problems, hearing and vision, and others (metioned in the Symptoms Post) should be taken care of as any normal person who has the same problems would.

Chart of The Genes In DS People

2008-04-22T08:13:00.000-07:00

As you can see people with DS have an extra 21st chromosome

DS Prognosis

2008-04-22T08:10:00.001-07:00

People with DS usually live shorter lives than normal humans and live until they are 50 or a little older.People with DS live lives that are very normal and can be a benefit to others. Early treatment can help elongate their lives and improve their quaility of life.

Symptoms Of Down Syndrome

2008-04-18T08:56:00.000-07:00

Physical Symptoms:
-Enlarged Tongue
-Flat Facial Profile
-Upward Slant To Eyes
-Small Ears
-Single Crease Across Center Of Palms
-Babies can be "floppy" with loose joints and low muscle tone
-Are slower growing than peers
Medical Symptoms:
-50% have congenital heart defects and are more likely to develop pulmonary hypertension (high blood pressure in the lungs)
-50% also have a problem with hearing (due to fluid build-up) and vision (due to lazy-eye, and near- or farsightedness)
-DS children also can have thyroid problems, intestinal abnormalities, seizure disorders, respiratory problems, obesity, an increased susceptibility to infection, and a higher risk of childhood leukemia

How To Know If Your Child Has DS

2008-04-18T08:44:00.000-07:00

DS is a very detectable disease while being pregant or when the baby is born. Before birth, DS can be detected by screening test of the phyiscal characteristics or by fluid testing of the fetus. If none of these tests are performed, doctors can still tell if a baby has DS by just looking at the child.

What Causes Down Syndrome (DS)?

2008-04-16T08:34:00.000-07:00

Down Syndrome is a chromosomal disease in which the cells of a person have an extra chromosome, giving them 47 instead of 46. This extra chromosome causes the physical and mental delays that all people with DS face.