Sunday, July 28, 2013

Down Syndrome

I chose Down Syndrome (DS) because when we were working on our group projects earlier in the class I was very interested and I wanted to learn more about the disorder.
 DS is a genetic disorder that causes delays in physical and intellectual growth and development. It is diagnosed at birth or shortly thereafter. The symptoms are mainly physical features that include: 
  • Upward slant to the eyes
  • Decrease in muscle tone
  • Flattened facial profile
  • Depressed nasal bridge
  • Small nose and mouth
  • Abnormal shaped ears
  • Laxity around body joints
  • Differences in hands and feet

Genetics of Down Syndrome 

Babies with DS have 47 chromosomes instead of 46, which is the usual amount individuals have. There are three types of DS, however the most common form is non-disjunction. 
Non-disjunction DS happens when there is an excessive amount of chromosome 21 in some or all of the cells. This occurs when a faulty chromosome divides during the cell division in the egg cell or in the sperm cell production. So when the chromosomes combine as one, and the sperm and egg come together there are three chromosomes present instead of only two.  There has been extensive research on why this happens but there have not been any discoveries as to why, we only know the how.

Living with Down Syndrome 

A case of DS occurs one in every 691 live birth, the disorder has nothing to do with race, nationality, faith, or socioeconomically status. As individuals with DS grow into adults they have the ability to go to high school and have a job in the workplace, just because people with DS look differently does not mean they are not capable of basic abilities. All people with DS have a form of mental retardation, however it is impossible to judge the level at birth. A person with DS can maximize their fullest potential through education, high expectations, and a lot of encouragement. Even though people with DS are considered mentally retarded, they are just slower and it takes more time for these individuals to process things. They do have a lot of trouble with complex thought and reasoning.

Adults with Down Syndrome

Adults with DS usually have difficulties with their heart; nearly 40% of individuals have congenital heart defects. It is very important for parents or the caregiver to pay close attention in case of any cardiac that may occur. Besides having heart conditions, people with DS may develop the following:
  • Respiratory issues
  • Vision problems
  • Hearing problems
  • Prone to illness and infections around them
Making sure that individuals have someone to look over them and having proper care is vital to living a long healthy life. The average life expectancy is around 55 years old, however there are now individuals living well into their sixties and seventies.

I hope I have provided you with an adequate amount of information about Down Syndrome. I have enjoyed researching and learning more about this disorder. If you would like to learn more about DS the following are websites I used to find my information. Enjoy!


  1. You might be interested in this recent study that shows that it may be possible to turn off the entire third copy of chromosome 21 and prevent the symptoms of Downs syndrome:

  2. I think that Down Syndrome is very interesting because it is not simply a mental disease. It also affects outward physical features, the heart, lungs, immune system, etc. It is no wonder that scientists are still stumped about why exactly the faulty division of DNA occurs. Do they know how this extra chromosome affects the different aspects you have mentioned above?