Lucy+Downs+syndrome

Down syndrome:

What is it: - Down syndrome is a condition when extra genetic material causes delays in the way a child develops. - It often leads to mental retardation. - It affects 1 in every 800 babies born.

What causes down syndrome: - A normal baby will inherit genetic information from the mother and father. - 46 chromosomes total: 23 from the mother and 23 from the father. - In Down syndrome a baby gets an extra chromosome. A total of 47 chromosomes. - The extra genetic material will cause the physical and cognitive delays of the baby. - No one knows for sure why Down Syndrome occurs. - There's also no way to prevent the chromosomal error that causes it. - Scientists have found that women of the age 35 and older have a significantly higher risk of having a child with the condition. - “At age 30, for example, a woman has less than a 1 in 1,000 chance of conceiving a child with DS. Those odds increase to 1 in 400 by age 35. By 42, it jumps to about 1 in 60.”

How does Down syndrome affect a child? - All children with Down syndrome share certain physical features. o Flat facial face o An upward slant to eyes o Small ears o A single crease across the center of the palms o An enlarged tongue - Doctors are able to tell if a child will have this condition by doing a physical exam. - Children with DS have “floppy” muscles - For babies, crawling, sitting up, walking will come later on for them than other kids. - The children tend to grow at a slower rate and remain smaller that their friends. - There is a delay in speck and self- care like “feeding, dressing, and toilet teaching.” - “Down syndrome affects kids' cognitive abilities in different ways” - Eventually they will learn, and will develop skills throughout their lives. - “They simply reach goals at a different pace” - It is important not to compare a child with Down Syndrome to a normal child

Medical Problems Associated with Down Syndrome - health problems differ with Down Syndrome children. - Some may not have any other health problems, but others may have several others and will require extra care - “For example, half of all children born with DS also have congenital heart defects and are prone to developing pulmonary hypertension (high blood pressure in the lungs). A pediatric cardiologist can monitor these types of problems, many of which can be treated with medication or surgery.” - ½ of all children with Down Syndromw have problems with hearing and vision. - Fluid build up in the inner ear will be related to hearing loss - Vision problems include amblyopia (lazy eye), near or far sided, and an increased risk of cataracts. - Some other medical conditions are: thyroid problems, intestinal abnormalities, seizure disorders, respiratory problems, obesity, an increased susceptibility to infection, and a higher risk of childhood leukemia. Fortunately, many of these conditions are treatable. http://www.kidshealth.org/parent/medical/genetic/down_syndrome.html Treatment - There's no medical treatment for Down syndrome that will provide a cure. Can a mother have more than 1 Down syndrome Child? Mothers who already have one child with Down syndrome… - a woman who has one child with Down syndrome has about a 1 percent chance of having another child with Down syndrome. Screening and diagnosis: - Screening for Down syndrome is available as a routine part of prenatal care. - “The American College of Obstetricians and Gynecologists recommends offering various screening tests for Down syndrome to all pregnant women, regardless of age.” - Screening tests during pregnancy - Various screening tests can help identify whether you have a high risk of carrying a baby with Down syndrome. - Blood tests can be offered around the 16th week of pregnancy to screen for Down syndrome - The most effective screening is done in two steps between the 11th and 14th week of pregnancy: - These 2 tests can identify 87 percent of babies with Down syndrome. - http://www.mayoclinic.com/health/down-syndrome/DS00182/DSECTION=1
 * Ultrasound: The doctor uses ultrasound to measure a specific region on the back of a baby's neck. This is known as a nuchal translucency screening test. “When abnormalities are present, more fluid than usual tends to collect in this tissue.”
 * Blood tests: Results of the ultrasound are paired with blood tests that will measure levels of pregnancy. It may be associated with plasma protein-A (PAPP-A) and a hormone known as human chorionic gonadotropin (HCG). Abnormal levels of PAPP-A and HCG may indicate a problem with the baby.