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Down syndrome

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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 1960s from Asian genetic researchers, and the term was dropped from scientific use. Instead, the condition became called "Down's syndrome." In the 1970s, an American revision of scientific terms changed it simply to "Down syndrome," while it still is called "Down's" 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 translocated 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 mosaicism, 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 ...

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