Down Syndrome

Down syndrome (also known as Down’s syndrome or Trisomy 21) was first described by and named after John Langdon Down, a British doctor. The disorder was described in 1866. Down syndrome is a genetic disorder caused by an extra copy of the twenty first chromosomes. (Chromosomes are the base of genetic material; they are in every cell of the body.) Having this extra copy causes the genes to  produce more protein than normal. Cells seem to like having more protein better than having less protein, however,  having too much can be very dangerous.

Down syndrome is caused by something called “nondisjunction.” A nondisjunction occurs when a pair of the twenty first chromosomes fails to separate during the formation of sperm or eggs. (The original sperm or egg cells are completely normal but they fail to separate.) When the egg combines with the sperm to form an embryo, the embryo has three copies of the twenty first chromosomes instead of the normal two copies. Because the cell reproduces, it will be copied into every cell of the baby’s body.

Women of age (typically thirty-five or older) tend to experience nondisjunction more than younger women. This is why women of thirty-five or older are cautioned when wanting to have a baby.

Down syndrome can be caused by other things than a nondisjunction; although this occurs very seldom. One of the other causes are “Robertsoian translocation.” This happens when part of the twenty first chromosomes comes apart and attaches to another chromosome, usually chromosome fourteen, during cell division. Although the total chromosome count remains at forty-six, the extra part of the chromosome can cause symptoms of Down syndrome. Usually the carrier of the translocation will have children with Down syndrome.

Scientist say that environmental factors do not cause Down syndrome. Scientists also say anything the mother does during her pregnancy will not cause Down syndrome. The only thing that is linked to Down syndrome is the mother’s age.

A mother at the age of thirty-five has a one in 353 chance of conceiving a baby with Down syndrome. At age forty, this increases to one in 85. The chance of having another baby with this genetic disorder may increase by an additional one percent. Many prenatal screens can discover if a child will have Down syndrome or not. Some of these screens are called: Triple Screen, Quad Screen, AFB, and PAPPA Screen. Even with the best of non-invasive screening, errors can occur. Screenings can show incorrect results two to five percent of the time. Ninety to ninety-five percent of the screenings are correct. In 2002, ninety-one to ninety-three percent of Down syndrome pregnancies were terminated (abortion).

There are about fifty different symptoms of Down syndrome. Most are mild to moderate development disabilities. Symptoms as well as severity can vary. Very few have a severe case of mental retardation. Some of these symptoms include but are not limited to: slow growth, weak muscles, a short wide neck with excess fat, a single crease along the center of the palms, small low-set ears, irregularly shaped mouth and tongue, nasal bridge that looks pushed in, mental retardation, small broad nose, upward slanting eyes, and heart defects. Some of these symptoms can also occur in people with normal set of chromosomes. The medical consequences of people with Down syndrome can affect any organ system or bodily process. The life expectancy of a person with Down syndrome is about forty-five to fifty years. One of the very few benefits of having Down syndrome is that you may have a reduced risk of having any type of cancer.

People with Down syndrome have a high risk of developing medical problems including but not limited to: respiratory infections, gastrointestinal tract obstruction, leukemia, hearing loss, hypothyroidism, inability to fertilize an egg, inability to conceive a child, and various eye abnormalities. Many have trouble learning basic skills such as walking or talking. Parents become very frustrated when trying to teach their child. Parents also have problems disciplining their child; it can be hard to differentiate between a child who cannot listen and one who don’t want to. It helps to have the child screened at an early age because medical attention is essential.

Adults and children with Down syndrome have special talents and gifts like any other person. They have dreams and live meaningful lives. Children with Down syndrome are more like other children than different. Some high-school graduates with Down syndrome continue to post-secondary school. Many people with Down syndrome can work jobs and take care of themselves with little or no supervision. Although, some will require help doing daily activities; most can live very productive and meaningful lives well into adulthood.

Currently, no cure is available for Down syndrome. Physical and speech therapy is normally used to help the child develop faster. Sometimes surgery can help but it can’t fully correct the person.

Down syndrome is the most common occurring genetic disorder caused by chromosomes. It can affect about one in 950 babies. That’s about an eleven percent chance of having a baby with Down syndrome. It’s only about a one in 733 chance of giving a live birth to a child who has Down syndrome. This disorder is devastating to the families. Many mothers, fathers, brothers, sisters, and other family members have a hard time dealing with their relative’s disorder.