Download Down Syndrome

Down Syndrome
Down syndrome is a genetic disorder that These include:
involves an extra copy of chromosome 21. 
Eyes that slant upward
determine how we are formed. Most cells 
Small nose, ears and mouth
have 23 pairs of chromosomes with one set 
A short neck
from each parent. 
Small hands and feet

Shorter height as children and adults

Low muscle tone
Chromosomes are "packages" of genes that An abnormal set of chromosomes can occur when cells divide during the process of forming the egg or sperm. When fertilization occurs, an extra chromosome 21 is present.
This extra copy changes how the baby's brain and body develop that involve intellectual disability and developmental delays. In some people it can also cause other health problems. The degree of the intellectual disability with Down syndrome varies widely with many people in the mild to moderate range. Better understanding and early interventions can improve the quality of life for children and adults with Down syndrome and help them lead fulfilling lives.
Physical Features
Other Health Issues
Some people with Down syndrome have other birth defects and/or health problems. The type and number of health concerns varies among people with Down syndrome.
Heart Defects
About half of babies born with Down syndrome have heart defects. All newborns with Down syndrome should receive an
echocardiogram (ultrasound picture of the heart) to check for defects. These problems may be serious and may require surgery in early infancy.
Other common health problems with Down syndrome include:
The extra chromosome causes some 
Ear infections
physical features in people with Down 
Hearing loss 
Eye issues including cataracts 
Obstructive sleep apnea (times during syndrome. sleep when breathing temporarily stops)
Less common health problems include The known risk factors are:
intestinal blockage at birth requiring 
surgery, hip dislocation, thyroid disease, Mother's age – The risk increases as the mother ages. anemia, and leukemia in infancy or -
At age 25, the risk is 1 in 1,250. -
At age 30, the risk is 1 in 1,000. -
At age 35, the risk is 1 in 400. There are three types of Down syndrome, -
At age 40, the risk is 1 in 100.
but 95% people with Down syndrome have -
At age 45, the risk is 1 in 30. childhood. Types
Trisomy 21. The physical features are Despite the increased risk as a woman similar so chromosomes from a blood ages, about 80% of babies with Down sample need to be studied to determine the syndrome are born to women under age type. 35. This is because younger women have more babies than older women.
Trisomy 21 – There are 3 copies of chromosome 21 instead of the usual 2 
Having one child with Down syndrome –
A woman with one child typically has copies.
about a 1 in 100 chance of having another child with Down syndrome.
Translocation Down syndrome – A part of the extra chromosome 21 is present, but is 
Carriers of Translocation Down attached or "trans-located" to a different syndrome – Both men and women can chromosome. pass the genetic defect to their children. This is very rare. Only about 4% of Mosaic Down syndrome – The extra children with Down syndrome have the chromosome 21 is present in some but not translocation type and only about 1/3 of all cells. Children with this type may not these children inherit it from a parent.
have as many of the physical features because some (or many) of their cells have Screening and Diagnosis
the usual number of chromosomes.
Pregnancy – Screening Tests
During pregnancy, blood tests (sometimes Causes and Risk Factors
along with an ultrasound image) are done to Researchers don't know exactly why the see if Down syndrome or other birth defects extra chromosome occurs and all of the are at a higher than average risk. The tests
factors that may be involved. cannot specifically diagnose these conditions.
Some parents have a greater risk of having a baby with Down syndrome. Pregnancy – Diagnostic Tests
Early intervention with special educators Women who have an abnormal screening and therapists can be very helpful with test result are offered a diagnostic test that is development. Talk with your health care accurate at diagnosing or ruling out Down provider about therapy and early syndrome. There is a small risk of intervention services. miscarriage with these tests.
The test options are:

Chorionic villus sampling (CVS) – A small piece of tissue from the placenta is removed and tested during weeks 10 to 12 of pregnancy.

Most people with Down syndrome go to mainstream schools, read and write, and have jobs. They may live with their families or independently and have positive lives.
Research
Amniocentesis – A small amount of fluid The National Institutes of Health and other (amniotic) from the sac that surrounds organizations are conducting research on the baby is withdrawn and tested during aspects of Down syndrome including the weeks 15 to 20 of pregnancy.
related health conditions. The March of Dimes sponsors research on why errors in After Birth – Diagnostic Tests
chromosome division occur with the goal of If Down syndrome was not detected in learning how to prevent Down syndrome pregnancy, the doctor can most likely and other abnormalities. diagnose it when examining the baby after it is born. Blood tests are usually ordered to confirm whether there is an extra chromosome 21 in the baby's cells.
More Information and Support
You may want to seek out other parents of children with Down syndrome to learn about resources and share experiences. Families Treatment and Early Intervention
and friends can also be a source of support As with all babies and children, regular and understanding.
medical care is needed. Healthcare providers check infants and children with Down These organizations offer more information syndrome for the related conditions. and help in finding support groups:
Surgery to correct birth defects is done as Down Syndrome Association of Central needed. Medical care is provided for other Ohio
conditions that arise. Regular eye and www.dsaco.net
hearing tests are a part of ongoing care.
614-263-6020
Babies and children with Down syndrome March of Dimes
may take longer learning to crawl, walk and www.marchofdimes.com
talk. It may take longer to develop hand-eye 888-MODIMES (663-4637)
coordination and learn social skills.
National Down Syndrome Society
www.ndss.org
800-221-4602
National Down Syndrome Congress
www.ndscenter.org 800-232-6372
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Mount Carmel 2014