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Down Down Syndrome Down Syndrome Down syndrome is a combination of birth defects including some degree of mental retardation and characteristic facial features. It is also called trisomy 21. Down syndrome occurs when there is an abnormality in chromosome 21. It is found in approximately 1 out of 1000 all live births. Each year, 3, 000 to 5, 000 people are diagnosed with Down syndrome in the United States. The formal story began in 1866, when a physician named John Langdon Down first described a set of children with common features who were distinct from other children with mental retardation.
Down was superintendent of an asylum for children with mental retardation in Surrey, England when he made the first distinction between children who were cretins (later to be found to have hypothyroidism) and what he referred to as Mongoloids. Down based this unfortunate name on his notion that these children looked like people from Mongolia, who were thought then to have an arrested development. This ethnic insult came under fire in the 1960 s from Asian genetic researchers, and the term was dropped from scientific use. Instead, the condition became called Downs syndrome. In the 1970 s, an American revision of scientific terms changed it simply to Down syndrome, while it still is called Downs in Europe. There are three main types of Down syndrome.
The vast majority of children with Down syndrome (approximately 95 percent) have an extra 21 chromosome. Instead of the normal number of 46 chromosomes in each cell, the individual with Down syndrome has 47 chromosomes. This condition is called trisomy 21. The second type is called translocation since the extra 21 chromosome is attached or translocate d on to another chromosome, usually on chromosome 14, 21 or 22. If translocation is found in a child with Down syndrome, it is important to examine the parents chromosomes, since in at least one-third of the cases, a parent may be a carrier of the translocation. This form of chromosome error is found in 3 4 percent of the individuals with Down syndrome.
Another chromosome problem, called mysticism, is noted in about 1 percent of individuals with Down syndrome. In this case, some cells have 47 chromosomes and others have 46 chromosomes. Mosaicism is thought to be the result of an error in cell division soon after conception. Although individuals with Down syndrome have distinct physical characteristics, generally they are more similar to the average person in the community than they are different.
The physical features are important to the physician in making the clinical diagnosis, but no emphasis should be put on those characteristics otherwise. Not every child with Down syndrome has all the characteristics; some may only have a few, and others may show most of the signs of Down syndrome. Some of the physical features in children with Down syndrome include flattening of the back of the head, slanting of the eyelids, small skin folds at the inner corner of the eyes, depressed nasal bridge, slightly smaller ears, small mouth, decreased muscle tone, loose ligaments, and small hands and feet. About fifty percent of all children have one line across the palm, and there is often a gap between the first and second toes. The physical features observed in children with Down syndrome (and there are many more than described above) usually do not cause any disability in the child. Many people think that a child with Down syndrome must be home-schooled, or do not get taught at all.
Others believe that individuals with Down syndrome just learn the basic skills they need to live and then are just taken care of by person after person. This is completely untrue. There are special programs beginning in the preschool years to help children with Down syndrome develop skills as fully as possible. Along with benefiting from early intervention and special education, many children can be fully integrated in the regular classroom. The outlook for these children is far brighter than it once was. Many will learn to read and write and participate in diverse childhood activities both at school and in their neighborhoods.
There are also many special programs for work opportunities for people who have Down syndrome. Many adults with Down syndrome live in a semi-independent group home community. They take care of themselves, but there are people to check in on them if they need to. Although many theories have been developed, it is not known what actually causes Down syndrome.
Some professionals believe that hormonal abnormalities, X-rays, viral infections, immunologic problems, or genetic predisposition may be the cause of the improper cell division resulting in Down syndrome. It is known that the older a women gets, the greater the chance for the fetus to develop Down syndrome. However, 85 % of Down syndrome cases are with mothers younger then 35. There is also some evidence leading to the fact that if the father is older, then there is an increased chance. However, most cases are from the mother.
There are many health problems associated with Down syndrome. Sixty to 80 percent of children with Down syndrome have hearing deficits. Therefore, assessments at an early age and follow-up hearing tests are indicated. If there is a significant hearing loss, the child should be seen by an ear, nose and throat specialist. Forty to 45 percent of children with Down syndrome have congenital heart disease. Many of these children will have to undergo cardiac surgery and often will need long term care by a pediatric cardiologist.
Intestinal abnormalities also occur at a higher frequency in children with Down syndrome. For example, a blockage of the food pipe (esophagus), small bowel (duodenum), and at the anus are not uncommon in infants with Down syndrome. These may need to be surgically corrected at once in order to have a normal functioning intestinal tract. Children with Down syndrome often have more eye problems than other children who do not have this chromosome disorder. For example, 3 percent of infants with Down syndrome have cataracts. They need to be removed surgically.
Other eye problems such as cross-eye (strabismus), near-sightedness, far-sightedness and other eye conditions are frequently observed in children with Down syndrome. Another concern relates to nutritional aspects. Some children with Down syndrome, in particular those with severe heart disease often fail to thrive in infancy. On the other hand, obesity is often noted during adolescence and early adulthood. Providing appropriate nutritional counseling and anticipatory dietary guidance can prevent these conditions. Thyroid dysfunctions are more common in children with Down syndrome than in normal children.
Between 15 and 20 per cent of children with Down syndrome have hypothyroidism. It is important to identify individuals with Down syndrome who Skeletal problems have also been noted at a higher frequency in children with Down syndrome, including kneecap subluxation (incomplete or partial dislocation), hip dislocation, and atlantoaxial instability. The latter condition occurs when the first two neck bones are not well aligned because of the presence of loose ligaments. Approximately 15 percent of people with Down syndrome have atlantoaxial instability. Most of these individuals, however, do not have any symptoms, and only 1 - 2 percent of individuals with Down syndrome have a serious neck problem that requires surgical intervention.
have thyroid disorders since hypothyroidism may compromise normal central nervous system functioning. Other important medical aspects in Down syndrome, including immunologic concerns, leukemia, Alzheimer disease, seizure disorders, sleep apnea and skin disorders, may require the attention of specialists in their respective fields. There is no cure for Down syndrome. The best hope is the human genome project. This people working on this project are mapping out the entire human genome. Every gene on every chromosome will be found and identified.
Once the gene that causes Down syndrome is found, it would be possible to force this gene into dormancy. This will take quite a few years to happen, but as of this moment it is our best bet. The project can also help out with other genetic abnormalities. All genetic disorders can be traced down to the exact gene that causes them, and from there scientists can figure out how to stop that gene from causing the disease that it causes. There have been some treatments touted as the Down syndrome killer, but none have really proven effective. There are not many cases of people with Down syndrome marrying.
There is proof that men with Down syndrome cannot father children. Also, it is said that women have a 50 - 50 chance of conception, and that the child could be born deformed. The most common psychiatric problem found with people with Down syndrome is depression. Some psychotic-like features showed up, such as talking to ones self excessively, extreme withdrawal, hyperactivity, restlessness, compulsive acts, and delusions. Other things found were self-inflicted injuries. Prenatal testing using amniocentesis or a newer test called chorionic villus sampling can diagnose or, far more likely, rule out Down syndrome.
As both procedures carry a small risk of infection and / or miscarriage, doctors generally offer them only to women at increased risk of having a baby with chromosomal or certain other birth defects. A doctor may suggest amniocentesis if a woman receives an abnormal result on her alpha fetoprotein (AFP) screening test, a blood test done around the 16 th week of pregnancy. This test can suggest the presence of Down syndrome in about 35 percent of cases. A newer version of this test, which measures AFP and levels of two pregnancy hormones, appears able to suggest the syndrome in about 60 percent of cases.
However, these blood tests do not provide a conclusive diagnosis, and are merely screening tests that may indicate the need for amniocentesis. The glib answer to the question how do I treat people with Down syndrome? is: The same as you treat everybody else. There is nothing really unusual about people with Down syndrome or their medical problems and managing them is not particularly difficult. The reality is, however, that general practitioners will be called upon to provide medical care to people who have Down syndrome through their lives and unfamiliarity with the syndrome may compromise the quality of that care. It is important that society develop attitudes that will permit people with Down syndrome to participate in community life and to be accepted.
They should be offered a status that observes their rights and privileges as citizens, and in a real sense preserves their human dignity. When accorded their rights and treated with dignity, people with Down syndrome will, in turn, provide society with a most valuable humanizing influence.
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