By: Whinter Kent and Bobbi McKennie

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Copyright © 2003 National Association for Down Syndrome
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Presentation transcript:

By: Whinter Kent and Bobbi McKennie Down Syndrome By: Whinter Kent and Bobbi McKennie

Names Some of the other names for down syndrome are : Down's syndrome trisomy 21 trisomy G 47,XX,+21 47,XY,+21

Genetic Disorder In most cases, Down syndrome occurs when there is an extra copy of chromosome 21. This form of Down syndrome is called Trisomy 21. The extra chromosome causes problems with the way the body and brain develop.

Chromosome Graphic

Symptoms Some of the symptoms of down syndrome are: An upward slant to the eye A short neck Abnormally shaped ears White spots on the iris of the eye A single, deep transverse crease on the palm of the hand Smaller than average size Exaggerated space between the first and second toe Poor muscle tone Joint looseness Broad feet with short toes Learning disabilities

Diagnosis Screening tests can help tell whether you have a high risk of carrying a baby with Down syndrome. In the past, blood tests typically were offered around the 16th week of pregnancy to screen for Down syndrome. Down syndrome is usually identified at birth or shortly after. The diagnosis is based on physical characteristics that are commonly seen in babies with Down syndrome. These include low muscle tone, a single crease across the palm of the hand, a slightly flattened facial profile and an upward slant to the eyes.  The diagnosis must be confirmed by a chromosome study or (karyotype).  A karyotype provides a visual of the chromosomes grouped by their size, number and shape. Chromosomes may be studied by examining blood or tissue cells. Two types of procedures are available to pregnant women: screening tests and diagnostic tests. The screening tests estimate the risk of the baby having Down syndrome. Diagnostic tests tell whether or not the baby actually has Down syndrome. Certain screen tests they have are The Triple Screen ,and Sonograms which only gives you the possibility of the baby by look at its physical characteristics.

Prognosis Many factors can affect a person’s down syndrome prognosis like other medical conditions that can occur because of this developmental disability. Some of these medical conditions include congenital heart disease, thyroid problems, leukemia, and hearing problems.

Treatment There’s no treatment for Down syndrome its just required that people who have the disorder work out, and eat healthy because in elderly years they experience obesity.

Research Improving cognition The Down Syndrome Research and Treatment Foundation are dedicated to finding a treatment to improve cognition including learning, memory and speech for individuals with Down syndrome.  Since their founding in 2004 they have become the leading private source of funding in the United States for Down syndrome cognition research. For more information on the current research to help improve Down syndrome visit drsrtf.org

Genetic Counseling Blood tests, urine tests, monthly medical exams, diet questionnaires, and family history tracking, each helps to assess the health of a baby, and to predict any potential health risks. There’s also the option of genetic testing. These tests identify the likelihood of passing certain genetic diseases or disorders to your children.

Great Story This is a short documentary about a little girl 5 year old girl from London named Rachel Emuna Levien who was diagnosed with Down syndrome and goes to a center founded by a Professor Reuven Feuerstein for kids with Down syndrome. It’s about how the family was devastated at first about the little girl having Down syndrome but starts taking her to these classes and they start to see her growth and development in her and how she’s learning how to study in a regular class room like any other child would without Down syndrome.

Sources http://www.mayoclinic.com/health/down- syndrome/DS00182/DSECTION=tests-and-diagnosis http://down-syndrome.emedtv.com/down- syndrome/down-syndrome-prognosis.html http://ghr.nlm.nih.gov/condition/down-syndrome http://www.dsrtf.org/ http://health.nytimes.com/health/guides/disease/down- syndrome/overview.html http://www.youtube.com/watch?feature=endscreen&NR =1&v=lqSQI6VJgLk http://kidshealth.org/parent/medical/genetic/genetic_co unseling.html?tracking=P_RelatedArticle