Down Syndrome Essay, Research Paper

Down Syndrome

It was not until the 19th Century that the syndrome became well documented. In 1866 Dr. J. Langdon Down, an English physician, published a paper describing its characteristics, separating children with Down syndrome from children with other types of disabilities. In the course of his description, Down remarked on the resemblance of the facial features to those of the Mongolian race in northern China. He gave them the unsuitable and inappropriate name of mongoloid . This unfortunate term are not used today, yet as recent as ten years ago, when the doctor came to tell the parents that their child had Down syndrome, he/she would inevitably refer to the child as a mongoloid. Throughout the 20th century, advances in medical science have enabled researchers to investigate the characteristics of people with Down syndrome. Jerome Lejeune was the French physician who identified Down syndrome as a chromosomal anomaly. Lejeune reported that people who had Down syndrome had 47 chromosomes instead of the normal 46. About six thousand babies in the United States are born every year with Down syndrome. Down syndrome is one of the most common birth defects. It occurs in all races, ethnic groups, and nationalities. Down syndrome is a congenital malformation accompanied by moderate to severe mental retardation, is caused by a chromosomal abnormality. People with Down syndrome are often short in height and have a small, round head with a high, flattened forehead and split, dry lips and tongue. A typical feature is a fold of skin, the epicanthic fold, on either side of the bridge of the nose. The palms show a single transverse crease and the soles have a straight crease from the heel to the space between the first and second toes. These people are also subject to congenital heart defects and tend to develop leukemia. Their intelligence quotient, IQ, usually ranges between 20 and 60, but with early intervention and proper education, some people reach higher levels. The overall incidence of Down syndrome is approximately one in 700 births, but the risk varies with the age of the mother. The rate of Down syndrome in children born to 25 year old mothers is approximately 1 in 2000, but the risk increases to 1 in 200 for 35 year olds and more than 1 in 40 for women older than 40 years. Prenatal tests such as amniocentesis and chorionic villus sampling can be used to detect the chromosomal abnormality causing Down syndrome. In addition, maternal blood tests can suggest the presence of a fetus with Down syndrome when levels of alphafetoprotein are lower than usual, or when levels of unpaired estriol and human chorionic gonadotrophin are abnormal. The chromosomal abnormality involved in most cases of Down syndrome is trisomy 21, or the presence of three copies of the 21st chromosome. As a result, the affected person has 47 chromosomes in all body cells instead of the normal 46, although how this causes the condition’s symptoms is not yet known. Scientists assume that the reason for the abnormal chromosomal combination is the fertilization of an ovum having 24 chromosomes by a sperm with a normal assortment of 23, but they have also found that the sperm can carry the extra chromosome as well. The abnormal ovum or sperm is derived from a germ cell in which the pair of 21st chromosomes holds together and passes into the same sperm or ovum instead of separating. In the type of Down syndrome called translocation, the extra chromosome 21 material is attached to one of the other chromosomes; when some, but not all, of the body’s cells carry an extra chromosome 21, the condition is a type of Down syndrome called mosaicism. Down syndrome is not yet responsive to medical treatment, but better medical care of the accompanying disorders and infections now results in an almost normal life span instead of the previous life expectancy of about 14 years. The severely retarded may still be institutionalized, but many Down syndrome children are raised at home, where their full potential can be developed. Although, with an average mental age of about eight years, they continue to need a protective environment, many adults with Down syndrome work in sheltered workshops; some hold regular jobs in business and industry.