CASE REPORT WEEK 2

Case Report Part 1

Case Report

This paper analysis the patient treated in the private hospital. The patient was diagnosed with Down Syndrome. This is a genetic disease, a congenital chromosomal abnormality, in which a sick person has a growth in the number of chromosomes. This disorder occurs as a consequence of a genetic anomaly. For the first time, signs of people with Down syndrome were labeled in 1866 by an English doctor, John Langdon Down (Down), whose name was the name for this syndrome. The cause of the syndrome was discovered merely in 1959 through the French researcher Jerome Lejeune (Kumin, 2003). This syndrome happens because of the procedure of chromosome divergence during the formation of gametes (eggs and sperm), with the result that the child receives from the mother (in 90% of cases) or from the father (in 10% of cases) an extra 21st chromosome. Most patients by Down syndrome have three 21 chromosomes instead of the two; In 5–8% of cases, the anomaly is associated with the presence of fragments not of the whole extra chromosome.

FDA Regulations

The modern prenatal examination for Down syndrome non-invasive prenatal showing is not FDA accepted. Throughout 1995 great interest was generated on the use of piracetam, a drug considered to be a brain stimulant or nootropic agent. According to FDA regulation, it is a harmful for the mother and baby to screen during the prenatal period.

Role of Money on Healthcare

Health care costs are growing faster than the global economy and account for 10% of the global gross domestic product (GDP). As noted by the new World Health Organization (WHO) report on global health spending, the curve for these costs is rapidly rising, which is especially noticeable in low- and middle-income countries, where annual growth of these costs is on average 6%. In high-income countries, this figure is about 4%.

The total health expenditure consists of the state budget expenditures, cash payments of the population (i.e. expenditures on health services paid by the population from one’s own pocket), as well as amounts received from sources such as voluntary medical insurance, health insurance programs provided employers, and non-governmental organizations. On average, in countries, about 51% of health expenditure comes from the state budget, and more than 35% comes from cash payments of the population. One of the consequences of this is that every year almost 100 million people are in extreme poverty. The report noted a tendency to increase public funding for health care in low- and middle-income countries and to reduce the volume of external financing in middle-income countries. The share of cash payments worldwide is declining, although this process is slow.

Medicare has a slightly different service line, due to the fact that the program serves older Americans and solves their health problems. Thus, the program is most often used in order to receive some kind of preventive services, to undergo inpatient treatment, or to be able to call the doctor at home to perform some therapeutic procedures. It is also possible to pass a diagnostic examination along this line of support to the population, or to spend a short period of time in an old people's home (Rogers, 1992). Unfortunately, the program does not provide for long-term hospitalization and is absolutely not designed for disabled pensioners who need medicines or medical equipment. But for this category of citizens, there are other programs supported by charity.

Role of Family Involvement

The topic of the family has been a cause for concern from the most diverse disciplines. In the health field have been explored the relationships between family organization and the biological development of its members. There are case studies on Down syndrome, malnutrition, morbidity and mortality in child and use of health services. This type of associations has also been studied in relation to the etiology of some mental and psychosocial diseases. The quality of the family as a resource of support highlights the importance of its psychosocial unit.

Down Syndrome

Down syndrome people need to undergo the similar scans and healthcare standards as anyone else. For instance, children with Down syndrome must the normal vaccinations and child care suggested through the health authorities. Vaccination practices are continuously evolving, so make sure that the utmost up-to-date procedures are used. Likewise, down syndrome adults should explore their well-being according to usual practices. But nevertheless, In children with this disorder are at improved possibility for particular congenital anomalies, and both youngsters and children can improve particular medical difficulties that occur more frequently in people with Down syndrome.

Prevalence/Incidence

The estimated incidence of Down syndrome worldwide is between 1 in 1,000 and 1 in every 1,100 newborns. People with Down syndrome usually have more eye problems than those who do not have this genetic disorder (Tyzack, & Wallace, 2003). In addition, 60% to 80% have an auditory deficit and 40% to 45% suffer from congenital heart disease. Another concern is related to nutritional factors. Children with Down syndrome generally present with intestinal abnormalities more frequently than the rest, and those who also suffer from serious heart disease tend to show a developmental delay.

Obesity, often detected during adolescence and early adulthood, can be prevented with proper nutritional advice and anticipation of dietary guidelines. Thyroid dysfunction and bone problems are more common than normal in children with Down syndrome. Other important medical aspects of this disorder, such as immunological factors, leukemia, Alzheimer's, seizure and skin disorders, as well as sleep apnea, may require the attention of specialists in the respective fields.

A study conducted through scientists at the University of Mysore (India), exposed four features that affect the likelihood of Down syndrome in a child. This is the age of the mother, the age of the father, closely related marriages, as well as, strangely sufficient, the age of the motherly grandmother. And the last of the four factors was the most significant. The older the grandmother was while she provided birth to a descendant, the high the likelihood that she would give birth to her grandson or granddaughter with Down syndrome. This probability increases by 30% every year, “lost” future grandmother.

Laboratory Testing

Tests for Down syndrome show if a fetus is more probable to have Down syndrome. Some kinds of tests check or reject the analysis. The tests for this disorder are used to detect or identify this condition. Screening tests for Down syndrome have slight or no danger to a mother or baby, however they cannot tell with certainty if newborn has Down syndrome. The diagnostic examinations through pregnancy can approve or exclude a diagnosis, however have a low danger of producing a miscarriage. Many health professionals recommend screening investigative tests for Down syndrome to expectant females 35 years of age or older (Mik, et.al. 2008). The main risk aspect for having a baby by Down syndrome is the age of the mother. The risk increases as a woman ages. In addition, a test may be done to make if the consequences show that a baby can have Down syndrome. The consequences of Down syndrome diagnosing tests can only indicate if a mother has a high danger of having a baby by Down syndrome. It may be helpful to talk to a genetic therapist beforehand testing and after receiving the results.

Conclusion

Since, the disease is a genetic pathology, future parents are advised to carry out screening diagnosis of the disease in early pregnancy in a woman. An effective method is also medical genetic counseling for married couples of age and couples who already have experience in the birth of children with all sorts of developmental disabilities. In order to prevent malformations of the nervous system of the fetus, a pregnant woman is prescribed folic acid from the earliest pregnancy.

References

Kumin, L. (2003). Early communication skills for children with Down syndrome. Bethesda, MD: Woodbine House.

Mik, G., Gholve, P. A., Scher, D. M., Widmann, R. F., & Green, D. W. (2008). Down syndrome: orthopedic issues. Current Opinion in Pediatrics, 20(1), 30-36.

Rogers, P. (1992). Medical Care in Down Syndrome: a preventive medicine approach. CRC Press.

Tyzack, K., & Wallace, E. M. (2003). Down syndrome screening: what do health professionals know?. Australian and New Zealand Journal of Obstetrics and Gynaecology, 43(3), 217-221.