Down Syndrome
By: Maddie Smith
Symptoms of the Genetic Condition
People with Down Syndrome have symptoms affecting their physical appearance and function. Their physical appearance may include: a distinct facial appearance such as flattened facial features and slant of the eyes, a small stature such as short height, small head, short neck, a poor muscle tone and a deep crease across the palm of the hand. The impaired physical function may include: hearing loss, heart defects, and cognitive delays that range from mild to severe. Each person may have some or all of the symptoms to different degrees.
How Down Syndrom Affects Daily Life
Down Syndrome causes lifelong intellectual disability and developmental delays. Depending on the severity of the condition, people with Down Syndrome can be contributing members of society. They may be included in classrooms, they may participate in sports and the arts, and they may have meaningful jobs and relationships.
People with Down Syndrome have the same feelings that everyone else has. They will be hurt if they are ridiculed, they can fall in love, and they feel sad or happy depending on the situation.
The physical appearance of a person with Down Syndrome may affect that person’s life in that other people might judge that person to be incompetent. People with Down Syndrome, however, may be talented in many areas.
If the person with Down Syndrome suffers with hearing loss or heart defects, then that person would have to be medically treated, just as anyone else with those conditions.
A person with severe symptoms of Down Syndrome would need to have more care and supervision.
What is the Life Expectancy for a Person With Down Syndrome?
In the early 1900's life expectancy for a person with Down Syndrome was nine years old. When antibiotics were discovered, that number doubled. Most people with Down Syndrome died from the complications of their heart difficulties. With modern medicine, life expectancy is at least age 60 or older. Because of new technology and what has been learned about this syndrome, there is help for people with Down Syndrome.
Trisomy 21 (nondisjunction)
Down syndrome is caused by an error in cell division called nondisjunction. Nondisjunction causes an embryo to have three copies of chromosomes instead of the usual two copies. In conception a pair of the 21st chromosomes in the sperm or the egg fail to separate. When the embryo grows, the extra chromosome appears in every cell in the body.
Translocation
Mosaicism
Mosaicism occurs when there is a mixture of two different types of cells, some containing the usual 46 chromosomes and some with 47. Those with 47 chromosomes contain an extra chromosome 21. It is the least common form of Down Syndrome. It only represents one percent of the cases. Researchers found that with Mosaicism there are fewer of the Down Syndrome characteristics.
Scientists at Sanford-Burnham Medical Research Institute in La Jolla, California have research that shows that mice with Down Syndrome have a lack of the protein SNX27
How Down Syndrome Got Its Name
In 1866 John Langdon Down, an English physician, published accurate descriptions for a person with Down Syndrome. For his research, he earned recognition as the Father of Down Syndrome. People did not recognize the symptoms of Down Syndrome before he made the effects more clear. Because of his first studies, other physicians were able to diagnose and treat people with Down Syndrome.
No cure is available for Down Syndrome
Down Syndrome may be diagnosed in the womb using these techniques:
Chorionic villus sampling— examines material from the placenta
Amniocentesis— examines the amniotic fluid
Percutaneous umbilical blood sampling —examines blood from the umbilical cord