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Down Syndrome

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Kelly Jackson-Zamora

on 7 April 2013

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Transcript of Down Syndrome

Down Syndrome There are three variations of Down Syndrome but the most common one is called Trisomy 21 , which accounts for 95% of cases of people with down syndrome. Sources What is Down Syndrome? So basically the chromosome 21 is mixed in with other normal cells Mosaicism Flat appearing face

Small head

Flat bridge of the nose

Rounded cheeks

small, wide hands Common symptoms & Characteristics Pictures: "Improving the Health of Babies with Down Syndrome." Online image. Utah State University. April 2013

Rose, Melanie. "He is so Worth It." Online image. Noah's Dad. April 2013 Typically you get 23 chromosomes from each parent but with Down syndrome an individual has a full or partial extra copy of chromosome 21 so instead of 46 chromosomes the child would have 47 This additional genetic material alters the course of development both mentally and physically. Variations Of Down Syndrome TRISOMY 21 (NONDISJUNCTION) Typical Cell divison TRISOMY 21 (NONDISJUNCTION) CELL DIVISION caused by an error in cell division called "nondisjunction" results in an embryo with three copies of chromosome 21 instead of the usual two. Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate. As the embryo develops, the extra chromosome is replicated in every cell of the body Accounts for 95% of cases of down syndrome (Most common seen) TRANSLOCATION Accounts for about 4% of cases part of chromosome 21 breaks off during cell division and attaches to another chromosome, typically chromosome 14. While the total number of chromosomes in the cells remain 46, the presence of an extra part of chromosome 21 causes the characteristics of Down syndrome. Down Syndrome occurs in all races and can affect anyone. "Why Parenting Is The Best Paying Job In The World." Online image. Noah's Dad. April 2013 "Are there Different Types of Down Syndrome?" Online image. National Down Syndrome Society. April 2013 MOSAIC CELL DIVISION Typical cell divison Accounts for 1% of all cases occurs when nondisjunction of chromosome 21 takes place in one - but not all - of the initial cell divisions after fertilization. When this occurs, there is a mixture of two types of cells, some containing the usual 46 chromosomes and others containing 47. Those cells with 47 chromosomes contain an extra chromosome 21. Conclusion Regardless of the type of Down Syndrome a person may have an extra, critical portion of chromosome 21 is present in all or some of the cells What Are The Chances? "Sweet b." Online image. Tamara Taggert. April 2013 So, what are your chances of having a baby with Down Syndrome? It is estimated that 1 in every 691 babies born will be born with down syndrome Age 20 1 in 2,000 Age 25 1 in 1,200 Age 30 1 in 900 Age 35 1 in 350 Age 40 1 in 100 Age 45 1 in 30 Age 49 1 in 10 Although older mothers do have a higher risk of having a baby born with Down syndrome, 80%of children born with Down Syndrome are born to women 35 years old and under Discovery Of Down Syndrome John Langdon Down, an English physician, was recognized as the "Father" of the syndrome because of his published work on the accurate description of a person with Down Syndrome in the 1860's. It wasn't until In 1959, the French physician Jérôme Lejeune identified Down syndrome as a chromosomal condition. Day to Day Life In 1910 the life expectancy was 9 and even after the discovery of anitibiotics the average survival rate was 19 or 20. Now people with Down Syndrome have a life expectancy of 60. "Minnesotan is oldest living man with Down syndrome." Online image. Patricia Ebauer. April 2013 With Down syndrome there is mild to moderate learning disabilities A large portion of those with Down Syndrome have a congenital heart defect. This is a problem with the structure of the heart. Referred to as "Hole in the heart" Medical Problems: Gastrointestinal issues: Constipation is common, inability to eat glutun products Thyroid conditions: Most common is under-active thyroid. Symptoms include:
Lack of concentration
Weight gain
Dry coarse skin
Memory impairment
Intolerance of cold. Hearing loss/Difficulties hearing Vision Problems Dry skin & hair Growth - smaller in stature "Down Syndrome." Online image. The Punch. April 2013 Websites: "Down syndrome & health."betterhealth.vic.gov.au. August 2011.
<http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Down_syndrome_and_health> April 7 2013 Sietske N. Heyn, PhD. "Down Syndrome." medicinenet.com <http://www.medicinenet.com/down_syndrome/article.htm> April 7 2013 "Facts and Figures / FAQs." extra21.org.uk <http://www.extra21.org.uk/facts-and-figures-faqs/> April 7 2013 "Down Syndrome." http://kidshealth.org/ <http://kidshealth.org/parent/medical/genetic/down_syndrome.html#> April 7 2013 "What Is Down Syndrome?" ndss.org. <http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/> April 7 2013
Small mouth, which causes the tongue to stick out and to appear overly large

Upward slanting eyes

Small, misshapen ears

An unusual, deep crease across the centre of the palm (simian crease)

Shorter than normal height How Is Down Syndrome Diagnosed? How Down Syndrome is Treated Although there is no cure, physical therapy and/or speach therapy can help. Screening for medical problems can also help improve quality of life There are two types of tests checks for Down Syndrome during pregnancy: Screening and diagnostic tests.

Screening Tests include:

Nuchal translucency testing: performed between 11 and 14 weeks of pregnancy, uses ultrasound to measure the clear space in the folds of tissue behind a developing baby's neck. This measurement, taken together with the mother's age and the baby's gestational age, can be used to calculate the odds that the baby has DS

The triple screen or quadruple screen (also called the multiple marker test): typically offered between 15 and 18 weeks of pregnancy. These tests measure the quantities of normal substances in the mother's blood. Three screen test for three markers. More accurate. Integrated screen: This uses results from first-trimester screening tests and blood tests with a second trimester quadruple screen to come up with the most accurate screening results.

A genetic ultrasound: performed at 18 to 20 weeks in conjunction with the blood tests, and it checks the fetus for some of the physical traits abnormalities associated with Down syndrome. These tests are not invasive (like the diagnostic tests), but they provide a high accuracy rate. Still, all of these screens will not definitively diagnose Down syndrome Down to the basics most of these tests involve blood test, ultrasound and woman's age to help determine whether the baby will have Down Syndrome Diagnostic tests include: Chorionic villus sampling (CVS): typically done between 10 and 12 weeks. involves taking a tiny sample of the placenta, either through the cervix or through a needle inserted in the abdomen. The disadvantage is that it carries a slightly greater risk of miscarriage Amniocentesis: performed between 15 and 20 weeks of pregnancy. Involves the removal of a small amount of amniotic fluid through a needle inserted in the abdomen. The cells can then be analyzed for the presence of chromosomal abnormalities. Small risk of complications, such as preterm labor and miscarriage. Percutaneous umbilical blood sampling (PUBS): Usually performed after 18 weeks, this test uses a needle to retrieve a small sample of blood from the umbilical cord. It carries risks similar to those associated with amniocentesis. are practically 100% accurate in diagnosing Down syndrome. At Birth: identified at birth by the presence of certain physical traits: low muscle tone, a single deep crease across the palm of the hand, a slightly flattened facial profile and an upward slant to the eyes. If a child does not have these physical traits than a chromosomal analysis called a karyotype is done to confirm the diagnosis . Draw a blood sample to examine the baby's cells. Grouped by size, number, and shape. Another genetic test called FISH can apply similar principles and confirm a diagnosis in a shorter amount of time. KARYOTYPE OF A FEMALE WITH TRISOMY 21
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