Down Syndrome: Basic Information

14 Aug 2017

Down Syndrome is a very common genetic disorder. It was not properly identified and described until the later years of the nineteenth century by a doctor named John Langdon Down. Due to his extensive work he earned the title of the “father” of the disorder. Before Down’s time there were other doctors who generally recognized the condition, but Down did extensive research and information gathering specifically on Down’s Syndrome.

The disorder occurs on a genetic level. Chromosomes are in each and every cell in the human body. The average human has 46 chromosomes per cell, someone with Down Syndrome has 47 chromosomes per cell instead. It was later discovered that chromosome 21 was either partially or completely copying, which causes the range of symptoms and special cases for people affected by this syndrome.

Traits of Down Syndrome

Trying to pinpoint individual traits of Down Syndrome can be a real challenge. There are many different signs, levels of severity, and sometimes lack of symptoms in an affected person. Generally speaking, traits fall into two different groups.

First there are physical abnormalities such as:

• Low tone in muscles
• Slight upward slant on the eyes
• Extreme flexibility
• Small ears and nose
• Large tongue that sticks out
• Flat facial features

Next, there are the developmental abnormalities, for example:

• Limited or delayed speech abilities
• Poor attention span
• Slower than average learning
• Acts Impulsively
• Difficulty with Change

This is just a small list of some of the possible abnormalities that could occur. The true list is in vaster and varies greatly from person to person. Every situation and person is a little different, so it is important to keep that in mind now and during future research.

Down Syndrome Testing

Luckily for parents, there is a noninvasive way to check and see if their unborn child is going to be affected by Down Syndrome – with 99% accuracy. All the test requires is a simple blood sample from the expectant mother. You can read more about the non-invasive prenatal test for Down Syndrome here.

Keep in mind that while Down Syndrome is a genetic based disorder, it is not known to be hereditary. The fact of the matter is only 1% of all people with this disorder share a hereditary link. Regardless of whether this is something that runs in your family or not, this test is important.

Many mothers prefer it because it is not as invasive as a diagnostics test. They can get the answers they are seeking through this method, and if further testing is needed that option is available. You should also keep in mind that screening tests are done to show if there is a possibility of a child being born with Down Syndrome. If this test comes back positive then further diagnostic tests for 100% confirmation will be needed.

Down Syndrome does not have a cure, but it can be managed and maintained with proper knowledge and care.