This is one of the most interesting genetic diseases in the world, and yet there is no cure for it. This disease can affect people drastically, or sometimes very little at all. Although there is no way to treat it, it can be helped, and there are many programs to help. This complex genetic disease is called down syndrome. Down Syndrome has many effects. People with down syndrome usually “look alike. ” They usually have a short neck, extra skin at the back of there neck, poor muscle tone, a small head, mouth, and ears.
They also have a flattened face, and nose,and a deep groove between the first and second toes(www. nichd. nih. gov). People with down syndrome also have white spots on the colored part of their eye, and wide and short hands and fingers( www. webmd. com). They also have crooked teeth, and sometimes depression, ADHD, and autism. They also can have heart defects, “chunky” arms and legs, the stomach sticks out a little bit. Forty to fifty percent of babies with down syndrome have heart problems. All mammals and birds have a 4 chambered heart.
The heart is divided in the middle by a muscular wall called the septum. Oxygenated blood goes to the left side of the heart, and deoxygenated blood goes to the right side of the heart(Evans 63-64). If there is a hole in your heart then your oxygenated blood will mix with your deoxygenated blood. This can lead to pulmonary hypertension, heart failure, and infections of the heart muscle(Evans 63-64) The top two chambers of your heart are called the atria, and the bottom two chambers of the heart are called the ventricles. (Evans 63-64).
When there is a hole between your two Atria is is called and atrial septal defect(ASD). When you have a hole between you ventricles it is called a ventricular septal defect(VSD). When you have a hole between both you atria, and ventricles it is called atrioventricular septal defect (AVSD)(Evans 64). A while ago the Atlanta Down Syndrome project did a study on 277 infants who had down syndrome over a six and a half year time period. Out of the 277, 100 of them had heart defects. Forty five percent of the 100 had AVSD, thirty percent had VSD, and the rest had other defects in smaller percentages(Evans 65).
Before there was modern technology, and you had AVSD then you had a five percent chance of survival rate, and would live to around age five. Today, if a child with AVSD gets a surgery for it, they have a seventy percent survival rate. Although the surgery helps if you have AVSD, if you have the surgery after age one, you are twice as likely to not survive to surgery(Evans 66). Sixty five percent of all people with AVSD have down syndrome. A complete AVSD is two thousand times more likely to happen in a child with down syndrome(Evans 66. )
Children with down syndrome also have gastrointestinal problems. One of the problems is the blockage of the digestive tract. Some of the problems require emergency surgeries. Gastroesophageal reflux can also happen where you vomit, and your esophagus is irritated. (Evans 67) Individuals with down syndrome are twelve times more likely to get respiratory problems. Death rates are also higher for a person with down syndrome who has respiratory problems. A person with down syndrome would have infected nasal passages, bronchial tubes, and fluid in there lungs(Evans 69).
Another problems individuals with down syndrome have is vision problems. Strabismus is a condition where either one or both eyes turn in, or out. This occurs in forty three percent of people with down syndrome. It is caused by “Abnormal or incomplete development of the centers in the brain, that control the coordination of eye movements(Evans 69). People who have strabismus, are treated with special glasses, and eyepatch, or possible surgery. Vision therapy also helps. If strabismus is not fixed then vions can be lost, and you can get amblyopia (lazy eye)(Evans 69).
Thirty percent of people with down syndrome are near sighted. Nearsightedness happens because the eyeball is too short. The other seventy percent of people usually have farsightedness. With farsightedness the eyeball is too long(Evans 69-71). Both problems may only affect only one eye. Other conditions that people with down syndrome have are: cataracts, nystagmus, astigmatism, and blepharitis(Evans 70). Cataracts can be found in fifty percent of people with down syndrome. It’s caused when a clouding of the lens occurs. This can be by fixed surgically removing the lens. You might ask what is the lens?
The lens is the structure on your retina that focuses on light rays(Evans 70). When the lens is clouded, vision then becomes blurred. Twenty two percent of people with down syndrome have nystagmus. With nystagmus the eyes jerk around uncontrollably(Evans 70). Nystagmus is caused by problems with brain centers, that are in control of the eye movements. It is also caused by vitamin B2, and magnesium deficiency. It could also be caused by stroke, head injury, brain tumors, and multiple sclerosis. (All of these damage the brain center in control of the eye movement)(Evans 70).
Found in forty six percent of people with down syndrome is the eye disease Blepharitis. Blepharitis is the inflammation of your eye lids. This can be treated by cleaning the eyelids, using antibiotics, and using lubricating drops(Evans 71). Astigmatism is found in twenty five percent of individuals with down syndrome. Astigmatism is caused “irregularities in the shape of the cornea” The cornea covers the front of your eye. It is a protective, transparent membrane that lets light in. Astigmatism cause blurred vision, and is corrected by corrective lenses(Evans 71).
Hearing problems also come with down syndrome. Fifty three percent of children with down syndrome have small ear canals”, because of this they get wax buildup, and ear infections. Their ears are hard to examine, because people with down syndrome have small ear canals(Evans 71). Along with a small ear canal, they have a smaller middle ear (a part of your ear). Because of this, they get chronic otitis media(ear infections). Forty to sixty percent of kids with down syndrome have this problem. Sixty one percent of individuals with down syndrome also have a shallow nasal bridge, which causes chronic otitis media(Evans 71).
When the eustachian tube (the tube which goes from your ear to your throat) gets blocked, or collapsed, fluid builds up in the middle ear, and makes it more likely to get infected. The eustachian tubes are also small due to low muscle tone(Evans 71). Sixty percent of people with down syndrome have fluid buildup in their middle ear. Build up in the middle ear can cause some/permanent hearing loss. Sixty to eighty percent of individuals with down syndrome have hearing loss. Hearing loss contributes to language, and speech difficulties, and auditory attention(Evans 71).
Individuals with down syndrome, are ten to thirty times more likely to get leukemia. Leukemia is caused by the body producing too many white blood cells by the bone marrow. Acute and chronic are the two main types of leukemia(Evans 75). “Acute leukemia develops slowly, and the patient’s condition worsens more slowly. With Chronic leukemia it is the opposite, the leukemia develops quickly, and the patient’s condition worsens more quickly as well. About ten percent of babies with down syndrome develop a transient leukemia that passes by about 3 months(Evans 75).
Twenty to thirty percent of the babies with down syndrome who have a transient leukemia develop acute leukemia. Babies without down syndrome rarely have a transients form of leukemia. People with down syndrome also are sensitive/struggle with the toxicity of chemotherapy(Evans 75). People with down syndrome are more sensitive. Individuals with down syndrome also have a bad immune system, and low antibody and plasma levels(Evans 76). Ten percent of babies with down syndrome have digestive issues. The small intestine is usually blocked or too narrow. This prevents food from going through the intestine.
Another problem is a opening that forms between the esophagus(food passage), and the trachea (windpipe)(Tocci 41). Without this problem, the trachea and esophagus are separate. Because there is and opening food can get stuck in the trachea, and cause major issues. These are some signs of a blocked intestine: repeated vomiting, swollen belly, and poor feeding. Surgery is performed to remove the blockage in the small intestine or close the hole between the trachea and esophagus(Tocci 41). Respiratory problems also occur in children with down syndrome.
