Down Syndrome
Down syndrome is a disease which occurs in the body of an individual when there is a full copy of the chromosome or partial extra copy which takes place in chromosome 21. Following the additional material, it alters various developments in the body which then causes a condition called Down syndrome (Brill, 2007). Individuals affected by this condition possess characteristics such as low muscle tone, eyes may slant upwards, and some individual may have single deep crease physically seen in the center of palm.in essence, each person with this trait have unique physical outlook. Down syndrome can be of three different type including trisomy 21, translation and mosaicism.
Trisomy gets caused when an error occurs during the process of cell division which makes embryo have three chromosomes 21 instead of two. The mosaicism condition results when two types of cell mix where some contain 46 and 47 chromosomes which mean the 47th chromosome has extra chromosome 21(Margulies, 2007). In translation, there is a total of 46 chromosomes; however, the other extra copy may attach itself to others which result in an individual with Down syndrome.
Statistics of those affected – epidemiology
Given the prevalence of Down syndrome disease, there are high dependency problems experienced by both adults and young children. When checking on the economic impacts, it affects productivity and income levels in the families. Currently, the cost associated with Down syndrome condition in developed countries is estimated to have a value of 2% and 3% of GNP. It, therefore, cost billions in economies in expenditure and other elements associated with loss of productivity (Janicki, 2008). For example, a study carried by Harvard medical school shows that in the United States, the day’s loss and attributed to Down syndrome condition is at the average of 2 days per month among 200 workers. In the United States, there are about 9,487 who got identified while carrying out analysis on medical cost. In follow-ups, the medically managed individuals account for ($34,087), while the percutaneous coronary intervention at ($52,673).
Various body systems affected
From studies, people affected by Down syndrome occasionally have respiratory infections especially at early stages of first five years. In some instances, infections do affect skin and bladder which is due to high increased susceptibility resulting from abnormalities in the immune system. Often, people with Down syndrome do experience difficulties in the vision where many posses either long or short sightedness. Following these conditions, they have delayed body development on focus or perception (Cummings, 2014). From literature, it is reported that people with Down syndrome usually experience a disturbance in sleep which is common in young people and as a result, they may impair learning process.
In several instances, there is the development of Leukemia and individuals are at a higher risk by the age of 1 to 5 years which accounts for 2%. A higher percentage of about 80% with Down syndrome occasionally experience problems in hearing which affects their speech and language development. Hearing problem is associated with increased chronic disease in the ear due to the anatomical difference (Cummings, 2014). Heart defects get linked to Down syndrome condition which has negative impacts on the infant survival.
Available medications or treatments
Some strategies involved helps control and assist the affected individuals in the society. Notable, there are drugs and other supplements which when used prove beneficial. When the individuals take amino acids and other drugs which have effects on the activity of the brain, they tend to improve. Various new psychoactive drugs get developed to reduce occurrences of these conditions. The supplements are safer when used though not much effect to control the disorder (Evans-Martin, 2009). There are also some treatments therapies used as early interventions and continued through a person’s life. Procedures used are such as physical therapy where individuals get involved in activities to boost some of their motor skills, help in posture development and also assist in strengthening their muscles.
The other therapy is language and speech where children are given lessons to facilitate their communication skills and style since they tend to learn to speak very late. Often, there is the introduction of occupational therapy which enlightens the individual on self-care and improves one’s skills on a daily routine (Evans-Martin, 2009). Lastly, behavioral and emotional therapy also proves significant which make affected people develop the useful response in qualities that are desirable in behavior.
To sum up, Down syndrome is a disease which affects a high number of children and as a result, there are some states which have taken initiatives to give resources towards assisting Down syndrome individual. For example, the U.S Department of Education provides some generous funding to parent center network which is a body supporting families in giving educations services in the society (http://www.parentcenternetwork.org)
References
Brill, M. (2007). Down syndrome. New York: Marshall Cavendish Benchmark.
Cummings, M. (2014). Human heredity. CA: USA.
Evans-Martin, F. (2009). Down syndrome. New York: Chelsea House.
Janicki, M. (2008). P3-469: Impact of decline on older carers of adults with Down syndrome affected by dementia. Alzheimer’s & Dementia, 4(4), T659. http://dx.doi.org/10.1016/j.jalz.2008.05.2040
Margulies, P. (2007). Down syndrome. New York: Rosen Pub. Group.