Down Syndrome, Research Paper Example

Down syndrome is considered a congenital abnormality whereby the child is born with part of or entirely an additional third copy of the 21^st chromosome combination. Normal people carry 21 distinct pairs of chromosomes. Precise, characteristics of the abnormality are linked to delays in normal growth; peculiar facial features along with mild to moderate intellectual disabilities. Scientists have evaluated the average adult IQ to be 50 -70 related to that of an 8-9 year old child. Other distinct physical features include a small chin; poor muscle tone; slanted eyes; protruding tongue, flat nose; short nose, extra space between first and second toes and a single line in the palms of hands. With modern techniques used in prenatal screening, a diagnostic testing during the second trimester reveals this abnormality and mothers are given a choice of terminating the pregnancy (Roizen & Patterson, 2003).

The epidemiological profile as of 2010 investigations reveals that Down syndrome occurs at a rate of 1 in every 1000 birth globally accounting for an estimated 17,000 deaths annually. Pregnancies occurring at age 40 have a 1 in 84 chance of being Down syndrome. While the incidence of Down syndrome increases with age there is a 30%   occurrence among women 35 years of age and under. In 1862, an English physician by the name of John Langdon Down classified the abnormality as specific mental disability (Roizen & Patterson, 2003).

This research relates Down syndrome to Lott Brett book‘s Jewel. Specifics of this novel associated with Down syndrome are contained in the plot. Characters depicted in the plot are Jewel Hilburn, Leston (husband) and their five children. The plot was cited in 1943 when the family was enjoying their best of times in their relationships as well as socially. At age 40 Jewel becomes pregnant with their last child. She was very happy about the development, but became very distressed when her friend predicated that the child would bring harm to the family (Lott, 1999).

At the birth the infant appeared quite normal, but as growth and development stages were observed the family received an astounding diagnosis that the child was ‘Mongolian idiot’ and would not develop normally. Consequently, the parents were pressured to institutionalize the child they named Brenda Kay. This suggestion was rejected and the family decided to raise this child as normal without medical intervention. At the time there was very little known treatment for this ‘Mongolian idiot’ abnormality now known as Down syndrome. As such, through trial and error Jewel and Leston together raised Brenda Kay accordingly to function as a credible human expression and it was a joy filled experience (Lott, 1999). Essentially, this research project seeks to investigate, what developments in treatment of Downs Syndrome have there been between in the 1950’s and today?

Prior to the Brenda Kay’s birth five healthy children lived in this family. Lott presented this family in a post war era allowing father, Leston, regular employment producing a certain amount of financial prosperity within his family circle. However, with Jewel’s 40 year old pregnancy; birth of a Mongolian idiot child fortunes seemed to have shifted the image of this family within this family. Despite this unfortunate development the Hilburns were committee towards continued prosperity and happiness within their home environment (Lott, 1999).

Subsequently, the family was forced to relocate to California where conditions were different and undue hardships ensued. Amidst these adversity joy flowed as the family enjoyed Brenda Kay company and the eagerness to see how she will develop as a useful human expression. In this new social an geographic environment Jewel develops strategies that will ensure Brenda Kay’s success throughout life. The most effective tools were love and undivided devotion. Immediately she removed from her vocabulary words which did not benefit Brenda’s socialization (Lott, 1999).

They included Mongolian Idiot, as was described by the New Orleans physician, and nigger. During this articulation she discovered the effectiveness of love in treating Down syndrome when there were no scientific remedies for addressing the abnormality. Jewel further described these words as vocabulary that sting. These techniques, perhaps, could be recognized as the first developments in treatment of Down syndrome between 1950 – present time. Due to Jewel’s tenacity and insight the family accomplished its continued prosperity goal in the face of seeming adversity (Lott, 1999).

During the early 20^th century institutionalization was the only treatment for this abnormality. This was primarily due to the fact that the chromosomal element was being disputed and the proposed cause invalidated. Consequently, physiological dysfunctions associated with this disorder were never treated and many children died from the complications of Down syndrome. These included speech impairment; language learning irregularities; heart valve disorders; gastrointestinal disturbances and infertility (Patterson, 2009).

Down syndrome has since emerged into difference phase beginning with prenatal screening and abortion if the mother so desires. Research is ongoing to develop evidence based practices that will address peculiar medical conditions associated with Down syndrome abnormalities. Also, many social programs have developed seeking to integrate Down syndrome people into social as useful citizens. From a medical perspective with the emergence of the eugenics movement laws protecting downs syndrome women from being prosecuted for having abortions was passed in United States of America. Subsequently, 33 of 48 states in United States of America designed legislations forcing sterilization of people with Down syndrome (Patterson, 2009).

Twenty-first century evolutions in Down syndrome medical treatment focus on frequent  doctors’ visits evaluating the emergence of predisposing medical conditions directly related to the abnormality. Mental development would be delayed, but children are expected to otherwise enjoy good health obtaining proper nutrition and vaccinations relevant to their age/ weight/height. Common gastrointestinal conditions, which a pediatrician/physician has to be alert in detecting include imperforate anus, esophageal atresia, duodenal atresia or stenosis, tracheoesophageal fistula and Hirschsprung’s disease (Paterson, 2009).

Some infants are born with heart defects such as atrial septal disorder; ventricular septal defect, Fallot’s tetralogy, and patent ductus arteriosus. With modern techniques applied in treatment intervention of Down syndrome beyond institutionalization, frequent doctor’s visits would rule out or confirm any of these associating disorders emerging from the drown syndrome congenital abnormality. Signs and symptoms are further evaluated and specific treatment regimen begins immediately (Paterson, 2009).

Co-existing psychiatric disorders frequently requiring therapeutic intervention include autism spectrum disorders; attention deficit hyperactivity disorder (ADHD), stereotypical movement disorders, depression and obsessive compulsive disorder (OCD). During the 1950’s when Brenda Kay was born and diagnosed a Mongolian idiot no such screening measures were available to Down syndrome children and adults. They were simply ostracized in places designed for living with no hope, love and quality of life until death. Many strides have been made in the treatment science of Down syndrome since 1950s (Paterson, 2009).

For example, musical therapies have been used to improve learning and lengthen the attention span among children with Down syndrome. Studies show where music incorporated in movement help children affected by Down syndrome to synchronize hand eye coordination. It also helped in reducing obesity rates since inactivity makes them susceptible to being overweight. Importantly, the use of music appeared to be soothing and they responded more to the music than the movement regimes they encompassed (Paterson, 2009).

Prior to 1970’s no attempts were made by educational systems, internationally, to include children affected by Own syndrome because they were considered beyond learning capacity. However, with new approaches in special education strategies many children have been given opportunities to develop an education compatible with their IQ and have been self-sufficient. These educational opportunities have allowed people with Down syndrome to participate in the social structure through career pursuits (Paterson, 2009).

Therapeutic riding has also been introduced to influence psychomotor development after Atlantoaxial Instability has been ruled out and the activity would not create further injury if they accidentally fall during the activity. Down syndrome children who have been cleared of this complication respond excellently to horseback riding therapies. Other activities incorporated in therapies are presently being researched with the focus of enhancing the quality of life for people affected by Down syndrome. It is clear that they no longer have to be institutionalized due their perceived uselessness, but rather socialized into becoming. Jewel in Lott’s book did set the pace for down syndrome children/people involvement in the social structure, not as idiots, but unique human beings, who are differently capable.

Works cited

Lott, Brent. Jewels. Washington Square Press. 1999. Print

Patterson, D. Molecular genetic analysis of Down syndrome. Human genetics 126 (1) 2009; 195–214.

Roizen, NJ; Patterson, D. Down’s syndrome. Lancet (Review) 361 (9365), 2003; 1281–89. Print