What is Down Syndrome?
This is a chromosomal disorder and in the United States it is the single most common cause of birth defects. This birth defect can cause a child to have lifelong developmental delays. They can range from moderate to severe.
Down Syndrome Symptoms
The symptoms of a child with Downs Syndrome can vary from child to child. Some children with this disorder may lead an independent healthy life while others may need a lot of medical attention.
Some of the common physical features that appear in children with Downs Syndrome can also appear in children that are normal. Some of these include:
- Having a single crease across one or both palms instead of a double one.
- Having eyes that are almond shaped because of the way their eyelid folds.
- Shorter limbs
- Muscle tone that is poor
- The space between their large and second toe is bigger than normal.
Although not all children will have the same features some of the symptoms that are common with Downs Syndrome include:
- Facial features that are flattened
- A small head
- A short neck
- Having a protruding thick tongue
- Having eyes that slant that is unusual for their ethnic group
- Unusually shaped ears
- Short stubby fingers
- Excess flexibility
Infants born with this disorder may be born of average size but as they grow it is slower than a normal child and they will always be shorter than other children their age. Their developmental milestones usually happen at twice the age of normal children. This can includes sitting, walking, crawling, rolling over, etc. Most children with Downs Syndrome have some degree of being mentally retarded that can be from mild to moderate but they can still learn and are capable of developing skill all during their lives.
In some infants you may see constipation because of their low muscle tone along with other digestive issues, feeding problems, and sucking. There could be delays in self care skills such as toilet training and dressing in older children along with speech delays.
The human cells will normally have twenty-three pairs of chromosomes with one pair coming from each parent. A child develops Downs Syndrome when one of three cell divisions that involve chromosome 21 happens abnormally. The abnormal cell division results in the child having extra chromosome 21 genetic material. The chromosome 21 is responsible for the problems of developmental problems and characteristic features of a child with Downs Syndrome.
The three genetic variations are:
Mosaic Down Syndrome
This is the rare form of Downs Syndrome. The child has an extra copy of chromosome 21 in their cells. The mosaic of abnormal and normal cells happens after fertilization during abnormal cell division.
This is the cause of Downs Syndrome ninety percent of the time. When this happens the child has three sets of chromosome 21 instead of two copies in their cells. This form happens during the development of the egg or sperm cell and is caused by the division of abnormal cells.
Translocation Downs Syndrome
This is when part of chromosome 21 becomes translocated, or attached, to another chromosome either at or before conception. These children have the normal two sets of chromosome 21 along with additional stuff from chromosome 21 that is attached to other chromosome. This is a form of Downs Syndrome that is not very common.
At this time there are no known environmental or behavioral factors that can cause this syndrome. It is also not normally inherited most of the time but is just an abnormal division in cells. Translocation Down Syndrome is the only one that can be inherited by the child from their parent. There are only approximately four percent that have this type of Downs Syndrome and half of them got it from one of their parents. Inheriting this form of Downs Syndrome depends on the sex of the parent who is carrying this abnormal chromosome 21. If the mother is the carrier the risk is between ten and fifteen percent and if the father is the carrier the risk is approximately three percent.
Screening is offered as part of prenatal care for Downs Syndrome but the main factor that was usually taken in consideration with the decision of having a screening was the mother’s age. Now they are offering the various screening tests for this syndrome regardless of age to all pregnant women. The screening tests are not always perfect but they do help you make the decision as to what to do about the pregnancy and if the pregnant mother wants more invasive tests done. The test is done during the eleventh and thirteenth week of pregnancy in two steps. These diagnostic tests include:
The physician uses ultrasound on the back of the baby’s neck to measure a specific area. More fluid than usual collects in this tissue if there are abnormalities present.
The physician will take the results of the ultrasound and pair it with the blood tests. These blood tests measure the hormone human chorionic gonadotropin and levels of the pregnancy associated plasma protein-A. If the levels are abnormal it could indicated a problem.
If you are at risk for having a baby with Downs Syndrome you can have an amniocentesis done.
Since Downs Syndrome is because of chromosome 21 there is no cure. The only treatment involves regular screenings and checkups during the pregnancy, controlling the symptoms, surgery, counseling and support, and medications. The Downs Syndrome child are at higher risks for certain medical problems like heart disease, nerve problems, hearing and eye problems, and more so it is important to make sure that they have regular checkups. They may also need therapy like physical, behavioral, speech, and occupational.
Down Syndrome Facts
- World Down Syndrome Day is March 21st each year. This day represents the three chromosomes on the twenty-first pair that causes the syndrome.
- A person with Downs Syndrome have forty-seven chromosomes instead of forty-six.
- The condition was name after a British physician named John Langdon Down in 1866. He described the disorder as problematic.
- It was first described clinically in 1838 by Jean Etienne Dominique Esquirol and then six years later by Edouard Sequin.
- In 1959 Dr. Jerome Lejeune identified Downs Syndrome as chromosome 21 trisomy.
- It is estimated that one in every six hundred ninety-one babies in the United States are born with Downs Syndrome but the ratio can change depending on the age of the mother.
- It is estimated that eighty percent of children with Downs Syndrome are born to mothers who are under the age of thirty-five because most the pregnancy rate is higher in women under this age.
- Forty percent of children born with Downs Syndrome have heart problems.
- Many children with Downs Syndrome graduate from high school, some even graduate from college, and work at full time jobs.
- The extra chromosome changes the orderly development of their brain and body.
- The incidence of having a child with Downs Syndrome is higher for women over thirty-five.
- Most of the common forms of Downs Syndrome do not happen more than once in the family.
Over the years how long a child with Downs Syndrome would live has increased considerably. In earlier times the life span was almost nine years old. Now the life span is fifty to sixty years of age. The reason that they are living so long is due to medical science and how they have developed over the years. Many times a large number of deaths happen in the uterus before they are even born. If they die in the uterus, the life span is usually just a few weeks but could be months.
Because many children with Downs Syndrome have heart problems and other health problems the death rate is higher in their first year of life. If they live through that first crucial year their life span increases by ten years or more. Basically how long a child with Downs Syndrome lives depends on the medical problems they have.
Down Syndrome Pictures
Collection of Pictures of Children with Down Syndrome…