What is Down Syndrome?
Down Syndrome also called trisomy twenty one, is a condition in which genetic material causes delays in the way a child develops. Down Syndrome affects all different ages and races. There are about six million people in the world diagnosed and more then thirty five hundred thousand have it in the United States alone. It is caused by the presence of all or part of a third copy of chromosome twenty one so the individual has forty seven chromosomes instead of the usual amount of forty six. Which makes it harder for the body to control how much protein is made. Down Syndrome is a chromosomal genetic disorder. In fact, Down Syndrome is the most common chromosome abnormality in humans. It is determined by whether or not the child has a third copy of chromosome twenty one. Down Syndrome symptoms first appear before the child is born or right after the child is born.
What are the symptoms of Down Syndrome?
Each individual with Down Syndrome has their own special characteristics and unique personalities, but people with Down Syndrome share the same symptoms that come with the genetic disorder. People with Down Syndrome have physical symptoms which include a small chin, slanted eyes, week muscles, a flat nose, a single crease of the palm, gap between firsts and seconds toes, a small mouth, and a large tongue. Other symptoms include unable to pay attention, not well at socializing, and menial skills are delayed. Medical symptoms include breathing infections, heart defects, stomach infections, hearing loss, thyroid problems, and eye issues. All of these medical symptoms contribute to the life expectancy of the person which is fifty five to sixty years old.
What causes a baby to be born with Down Syndrome?
Down Syndrome is caused by a non-disjunction. A non-disjunction causes a faulty cell division which results embryo with an extra chromosome. Chromosome twenty one has three copies instead of two.That extra chromosome is then copied in every cell in the baby's body. It is very rare but Down syndrome can also be caused by a Robertsonian translocation. This is when the long arm of chromosome twenty one breaks off and attaches to another chromosome. DNA plays a play in Down Syndrome because chromosomes are make up of DNA and Down Syndrome results in an extra copy of chromosome twenty one.
How is Down Syndrome diagnosed?
Down syndrome can be diagnosed during the pregnancy by prenatal screening and by diagnostic testing. Diagnostic tests that can identify Down syndrome include Amniocentesis, Chorionic villus sampling, and Percutaneous umbilical blood sampling. After birth it can be determined if the baby has Down Syndrome based on the child's physical appearance and genetic testing. The photo below shows an example of the Diagnostic Test, Amniocentesis. Amniocentesis is usually done between weeks 12 and 20 of the pregnancy.
What are treatments used for Down Syndrome?
Unfortunately, there is no cure for Down Syndrome, but there are some methods that help the development of people with Down Syndrome. Therapies such as physical, and speech therapies help the people develop better than they would have. This treatment targets the symptoms associated with Down Syndrome by strengthen the weakness that come along with having Down Syndrome. An example is, physical therapy is helping the person because one of Down Syndrome`s most common symptom is that there muscle skills are delayed. Therefore, the therapy is helping fix that problem. Treatments such as therapy Improves the persons ability to learn, speak, walk better, and ultimately leads to independence.
What research is currently being done on Down Syndrome?
The Down Syndrome Research and Treatment Foundation or the DSRTF funds different bio-medical research teams to deployment better treatments to help people with Down Syndrome live a normal life. They have currently funded researchers at Stanford University, Johns Hopkins University, University of Arizona, and the University of Texas. All the research teams work hard to make wonderful discoveries.