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Example research essay topic: Children With Down Syndrome Child With Down Syndrome - 1,179 words

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Down Down Syndrome 4 Introduction Down syndrome is a chromosomal abnormality. It is the most frequent form of mental retardation and is characterised by well-defined, distinctive phenotypic features and natural history. An error in cell development results in forty-seven chromosomes rather than the usual forty-six. There are three major types of Down syndrome. About ninety-five percent of individuals with Down syndrome have Trisomy 21. There is also Translocation and Mosaicism.

Down syndrome can also be referred to as Mongolism, the condition is named for John Langdon Down. Down was the superintendent of an asylum for children with mental retardation in Surrey, England when he made the first distinction between children who were cretins 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 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.

In the first part of the twentieth century, there was much speculation of the cause of Down syndrome. The first people to speculate that it might be due to chromosomal abnormalities were Waardenberg and Buyer in the 1930 s. But it wasnt until 1959 that Jerome Lejeune and Patricia Jacobs, working independently, first determined the cause to be trisomy of the 21 st chromosome. Cases of Down syndrome due to translocation and mysticism were described over the next three years. The estimated incidence of Down syndrome is between 1 in 1, 000 to 1 in 1, 100 live births. Each year approximately 3, 000 to 5, 000 children are born with this chromosome disorder.

It is believed there are about 250, 000 families in the United States who are affected by Down syndrome. Mode of Inheritance 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 has been known for some time that the risk of having a child with Down syndrome increases with advancing age of the mother.

For example the older the mother, the greater the possibility that she may have a child with Down syndrome. However, most babies with Down syndrome (more than 85 percent) are born to mothers younger than 35 years. Some investigators reported that older fathers may also be at an increased risk of having a child with this condition. It is well known that the extra chromosome in trisomy 21 could either originate in the mother or the father.

Most often, however, the extra chromosome comes from the mother. In Down syndrome, 95 percent of all cases are caused by this event: one cell has two 21 st chromosomes instead of one, so the resulting fertilized egg has three 21 st chromosomes. Recent research has shown that in these cases, approximately 90 percent of the abnormal cells are the eggs. Three to four percent of all cases of trisomy 21 are due to Robertson ian Translocation. In this situation, two breaks occur in separate chromosomes, usually the 14 th and 21 st chromosomes.

There is rearrangement of the genetic material so that some of the 14 th chromosome is replaced by extra 21 st chromosome. So while the number of chromosomes remain normal, there is a triplication of the 21 st chromosome material. Some of these children may only have triplication of part of the 21 st chromosome instead of the whole chromosome, which is called a partial trisomy 21. Translocations resulting in trisomy 21 may be inherited, so its important to check the chromosomes of the parents in these incidences to see if either may be a carrier. The remaining cases of trisomy 21 are due to mysticism. These people have a mixture of cell lines, some of which have a normal set of chromosomes and others which have trisomy 21.

In cellular mysticism, the mixture is seen in different cells of the same type. In tissue mysticism, one set of cells (such as all blood cells) may have normal chromosomes, where as another type, such as all skin cells, may have trisomy 21. Clinical Description of the Disorder 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. Some of the physical features in the children 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, small hands and feet and infantile genitalia.

About fifty percent of all children have only one line across the palm, and there is often a large 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. These children are usually smaller, and their physical and mental developments are slower, than other children who do not have this syndrome. The majority of children with Down syndrome function in the mild to moderate range of mental retardation.

However, some children are not mentally retarded at all; they may function in the borderline to low average range; others may be severely mentally retarded. There is a wide variation in mental abilities and developmental progress in children with Down syndrome. Also, their motor development skills slow; and instead of walking by 12 to 14 months as other children do, children with Down syndrome usually learn to walk between 15 to 36 months of age. Language development is also remarkably delayed. Treatment Although many medications and various therapies have been given as treatment for people with Down syndrome, there is no effective medical treatment available at the present time. However, recent advances in molecular biology make it feasible now to examine the genetic basis for Down syndrome.

Once we identify the genes on chromosome 21 (many already have been discovered) and once we find the mechanism of how these genes interfere with normal developmental sequences, and if one could counteract these specific actions, a rational approach to medical therapy could emerge. Detection Down syndrome can easily be detected before its symptoms appear, by screening the mother for chromosomal defects. This is done by amniocentesis. By looking at the karyotype researchers can identify Down syndrome prenatally. There has been no discovery on how to detect a carrier for Down syndrome.


Free research essays on topics related to: child with down syndrome, mental retardation, 21 st chromosome, children with down syndrome, mentally retarded

Research essay sample on Children With Down Syndrome Child With Down Syndrome

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