Sunday, August 4, 2013

Symptoms of Down's Syndrome


Some of the physical signs that will alert you that your baby has Down Syndrome are:
  1. Low muscle tone also known as hypotonia . The muscle will feel floppy and look relaxed. All the muscles in the body will be affected. This is one of the features in newborns that usually alert doctors to check for Down syndrome.
  2. The Face: The baby’s face might be a bit broader than usual and the nose bridge flat. Down syndrome babies usually have smaller noses than regular children. The eyes may be crossed or slanted upward (upslanting palpebral fissures ). They may also have small folds of skin at the inner corners of the eyes, these are called epicanthal folds . The irises may have light spots call brushfield spots . They do not affect the baby’s sight. A small mouth may indicate Down syndrome and the roof of the mouth may be shallow. If the baby has low muscle tone along with the small mouth and shallow roof the tongue may be protruded and seem too large for the mouth. The teeth of the baby may be late in growing and when this happens they may appear scattered and pointy. The ears of the baby may be small and the tops may fold over. Sometimes there are no earlobes or they are very tiny. The ear canal may also be small but improves with the baby’s growth.
  3. The head of the child may be smaller than usual and the neck shorter and fatter. There may be loose folds of skin at the nape but these usually disappear with growth.
  4. The size and length of the baby will be as other children but they do not develop as fast as other children do. Doctors will monitor your child’s growth and weight to make sure they are gaining weight and growing the way they should.
  5. The hands might be smaller and fingers shorter but the feet are usually normal, but there might be a gap between the first and second toes.

Saturday, August 3, 2013

Benefits of Genetic Testing

Genetic testing has potential benefits whether the results are positive or negative for a gene mutation. Test results can provide a sense of relief from uncertainty and help people make informed decisions about managing their health care. For example, a negative result can eliminate the need for unnecessary checkups and screening tests in some cases. A positive result can direct a person toward available prevention, monitoring, and treatment options. Some test results can also help people make decisions about having children. Newborn screening can identify genetic disorders early in life so treatment can be started as early as possible

Genetic Testing

Genetic tests are tests on blood and other tissue to find genetic disorders. Over 2000 tests are available. Doctors use genetic tests for several reasons. These include
  • Finding genetic diseases in unborn babies
  • Finding out if people carry a gene for a disease and might pass it on to their children
  • Screening embryos for disease
  • Testing for genetic diseases in adults before they cause symptoms
  • Making a diagnosis in a person who has disease symptoms
  • Figuring out the type or dose of a medicine that is best for a certain person
People have many different reasons for being tested or not being tested. For some, it is important to know whether a disease can be prevented or treated if a test is positive. In some cases, there is no treatment. But test results might help a person make life decisions, such as family planning or insurance coverage. A genetic counselor can provide information about the pros and cons of testing.

10 facts about Down Syndrome

1. Down syndrome happens before conception; so there is nothing a person did, or didn't do, to cause it. It happens when the egg, or sp*rm, is produced with an extra copy of chromosome 21. Taking prenatal vitamins will not prevent Down syndrome (but you should take your prenatals as Folic acid is important!)

2. Down syndrome is a Trisomy - meaning there are 3 copies, instead of 2, of any given chromosome. Medically Down syndrome is known as Trisomy 21 because it's the 21st chromosome that is affected; it's also the most common type of trisomy. Down syndrome is not a disease.

3. There are 3 types of Down syndrome - the most common (about 95% of cases) is nondisjunction which is a 3rd copy of the chromosome in every cell.

Mosaicism (about 1-2%) happens when only some of the cells have the extra 3rd copy.

Translocation (about 2-3%) happens when the long arm of chromosome 21 is attached to another chromosome.

4. In the US, Canada, and some other countries, it is Down syndrome, not the possessive "Down's syndrome." (The UK is one country still using the possessive form.) In 1975, the United States National Institutes of Health convened a conference to standardize the nomenclature of malformations. They recommended eliminating the possessive form: “The possessive use of an eponym should be discontinued, since the author neither had nor owned the disorder.” John Langdon Down first described it in 1866, but he neither had it, nor "owned" the syndrome so it should not take on the possessive form of Down's syndrome. (An example of possessiveness is ALS is also known as Lou Gehrig's disease, because he had the disease.) The 2 other common trisomies are 18 and 13, also known as Edwards syndrome and Patau syndrome - notice no possessive form on those syndromes.

5. While Dr. John Langdon Down first described the common characteristics of people with Down syndrome, it was actually Dr Jerome Lejeune who first identified it as a chromosome 21 trisomy in 1959.

6. While the likelihood of giving birth to a child with Down syndrome increases with maternal age; nevertheless, 80% of babies with Down syndrome are born to women under 35 years of age, as women in that age group give birth to more babies overall.

7. Down syndrome is not related to race, nationality, religion or socio-economic status.

8. Down syndrome occurs in about 1 in 800 live births.

9. There is a wide variation in mental abilities, behavior and physical development in individuals with Down syndrome. Each individual has his/her own unique personality, capabilities and talents. In other words, people with Down syndrome are not all the same; just like individuals in the typical population are not all the same.

10. Life expectancy for people with Down syndrome has increased dramatically in recent decades - from 25 in 1983 to 56 today.