Genetic Disorder/Down Syndrome Essay Sample

Down syndrome is a congenital disorder occurring due to extra chromosomes or genetic material which alters the development of the body. Down syndrome is caused due to an error in cell division that results in an embryo with three copies of chromosome 21which breaks off and attaches to another chromosome. The accurate characteristics of people with Down syndrome were published by an English physician John Langdon Down, who is recognized as the “father” of Down syndrome for his work.

SYMPTOMS AND DIAGNOSIS

People having Down syndrome are mentally retarded with learning difficulties. Their development is slow and has poor memory. Their IQ declines as they grow to adulthood. They have a characteristic facial appearance and have higher risk for heart defects, digestive problems and their thyroid gland is less active. They also have high risk of getting affected with leukemia. Down syndrome can be diagnosed in infancy based on the appearance. Chromosome analysis on a sample of blood or skin is done to look for extra chromosome 21. The error in cell division is called nondisjunction. Mosaicism and translocation are other types of chromosomal abnormality. A procedure called karyotype is used to detect the extra chromosome. Down syndrome in most cases are not inherited but is observed as random events when the reproductive cells are formed. Translocation Down syndrome in about four percent of children is the only form that is inherited from one of the parents.
The causes of Down syndrome are not known. It has been found that age was the common risk factor. For women 45 and older the risk is said to be 1 out of 25 births. The life expectancy for people with Down syndrome was only 9 years earlier but today it has increased to 50 years with medical assistance and care.

MEDICAL ASSISTANCE

Treatment should be based on the requirement of a person’s both physical and intellectual problem. Children with Down syndrome should be taken for regular medical review. The cardiac status of babies should be established in the first weeks. Heart defects should be diagnosed and considered for surgery. Orthopedic problems have to be taken care and regular audio logical surveillance should be done regularly. (The Merck Manual) Ophthalmological problems should be monitored as it can cause a great handicap. Hypothyroidism is common and should be checked regularly. Management of Gastrointestinal problems is necessary as children have congenital malformations which are atresia of the esophagus, anus, annular pancreas and exomphalos.
People with Down syndrome have to be treated as any other person as they have the same emotions and needs. The United States have around 350,000 people with Down syndrome. They need positive support to adapt in the society. (National Down Syndrome Society). Legislations have been passed to protect and provide equal opportunities to them. The National Down Syndrome Society supports and helps to improve the quality of life of people with Down syndrome and also helps them to find opportunities to fulfill their aspirations by undertaking programs on education, research and advocacy.

Reference List

THE MERCK MANUAL HOME EDITION.
Retrieved from: http://www.merckmanuals.com/home/childrens health issues/chromosome genetic abnormalities/down syndrome trisomy 21 trisomy g.html.
National Down syndrome Society.
Retrieved from:http://www.ndss.org/