Down Syndrome, Symptoms, Prevention and Treatment

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Table of Contents

Introduction
Discussion
Conclusion
Reference List

Introduction

Also known as Down’s syndrome, Down syndrome is a set of genetic disorders that result from the inheritance of an extra chromosome, thereby making one cell to have 47 chromosomes instead of the usual 46. This extra copy of chromosome affects the development of the body and brain of the children born with this condition. Mental development of children born with this condition is usually slower than those born without it (Centre for Disease Control and Prevention, 2010).

There are three types of Down syndrome: Regular trisomy 21, Translocation and Mosaic.

Regular trisomy 21 is the most common and is characterized by an extra chromosome 21 on all the cells while translocation accounts for almost 5 percent of all cases. It is characterized by the attachment of the extra chromosome 21 to another chromosome, this type is not as common as Regular trisomy 21.

Mosaic accounts for about 2 percent of all cases and in this type of Down syndrome, only a few cells have an extra chromosome 21 (Macnair, T. & Hicks, R. 2010).

Symptoms

People suffering from Down syndrome have a different facial profile; the face is typically flat with eyes tilted upwards. Symptoms may also include smaller ears and mouth making the tongue to protrude. Those affected with this disorder tend to have a smaller body size and are also shorter in stature with low muscle tone and a short neck.

Other problems include heart defects and gut problems. Nearly half of those suffering from Down syndrome are usually affected by heart defects although not all cases can be treated. Gut problems bring about difficulty in eating and may lead to other health problems such as constipation.

Low immunity is another health problem that results from this condition, this leaves the person at high risk of contracting infections. The disorder can also affect the hearing and sight senses. As Down syndrome causes mental impairment, learning ability of affected persons is affected (Macnair, T. & Hicks, R. 2010).

Prevention and Treatment

There is no known prevention or treatment method of this disorder but the health problems accompanying it can be treated through a variety of ways. Speech or occupational therapy and exercises improve on the physical and mental activity of the persons. According to research findings, the existence of some specific genes in women can interfere with the state of vitamin B9 (folic acid) metabolization. Moreover such women stand a high chance of having a baby with Down syndrome. Prevention steps by pregnant mothers include taking multivitamin daily with vitamin B9 and avoiding smoking or taking of alcohol. Down syndrome is a genetic disorder and the probability of having a child with this condition increases if any member of the family is born with the disorder. Antenatal screening can also be used to identify those women who are at a higher risk of having babies with the defect. Those found to be at a higher risk can then have their babies tested for Down syndrome. Giving birth to a baby with Down syndrome can occur especially as the mother grows older.

Aim

The aim of the paper is to demonstrate my understanding of Down syndrome and explain how it impacts on those who have it in their daily lives. The role of my discipline in the management of this disorder is also discussed in the paper.

Discussion

My choice of Down syndrome was based on and the myths and stigma attached to it and the neglect that these people suffer. Most people believe that people with the disorder have a short life span while this is no the case, life expectancy for these individuals is 60 years. Some people also believe that children suffering from this condition should be placed in special institutions for learning. It is useful to know that these children have been included into the normal institutions and are using the same curriculum that other children are using. There have also been instances where an employer denies an individual an opportunity due to this condition.

Impact on Daily Activities

Individuals with Down syndrome have a life expectancy of about 60 years; this is due to extensive research that has now made it possible to lessen its effects. Health and social problems associated with this disease are discussed below. Heart Defects: almost 50 percent of people suffering from Down syndrome have heart conditions (March of Dimes, 2010), some cases are mild but some require surgical procedures. An individual suffering from this disorder should have regular check-ups by medical personnel in order to arrest heart problems at an early stage. Vision and sight problems: the disorder may affect the eye leading to conditions such as cataracts, far-sightedness or near-sightedness. Vision problems affect more than 60 percent of babies with the disorder. This can be corrected by surgery, use of contact lenses or glasses. Partial or full hearing loss may be as a result of defects in the middle or inner ear. Infections: babies suffering from this disorder have low immunity and thus at a high risk of contracting colds, pneumonia and smallpox.

Preventive and curative precautions must be taken to ensure that these infections are not contracted by the individual. An example is feeding the persons on diet meals that improve the immunity system.

Thyroid disorders are usually caused by the absence of a thyroid hormone hence it may interfere intellectual development. Diagnosis of this condition is done through screening and treatment is by taking doses of thyroid hormone. Tests for this condition should be carried out annually for babies with Down syndrome since they are at a high risk of contracting this disease. Leukemia: this is cancer of the blood and affects less than one percent of babies infected with Down syndrome. This disease results to an abnormally high number of white blood cells, studies have shown that persons with Downs syndrome have an 18 percent of developing leukemia and this normally occurs before the baby is 3 years old (Chen, H., 2010). Leukemia can be treated through chemotherapy.

Intellectual disability: this is perhaps one of the greatest hurdles that people with Down syndrome have to face. Most of the people with the disorder have less than average IQ levels though some are only mildly affected and can live independently (Mothers 35, 2010). This also affects locomotive skills such as sitting and walking and also affects cognitive skills like speech and communication skills. These children are also at a higher risk of developing Alzheimer’s disease at later stages of their lives; this disease leads to memory loss. Locomotion skills can be improved through physiotherapy while cognitive skills can be improved through speech therapy by trained personnel. These children, however, have different capabilities and interests just as the normal children and should not be discriminated upon based on their condition.

A range of support systems are now available for children with Down syndrome.

Fertility: persons suffering from Down syndrome have reduced fertility. Infertility is common in males while pregnancy for women is possible though this probability reduces with increase in age. A woman with this condition has a 50 percent chance of getting a child.

Support

People suffering from Down syndrome should be accorded the necessary support by their immediate families and the community at large. These include academic and health institutions. As a healthcare specialist, it is my duty to make sure that an individual suffering from Down syndrome accesses all the facilities that he may require. This would require that I make regular visits to the persons to check on their health and recommend treatment for cases that require medical attention. Check-ups to be done during such visits include hearing and vision, infections such as colds or pneumonia and thyroid tests. Speech therapy must also be included in such visits for this improves the ability o the children to communicate with others.

When the individual is an adult, tests for leukemia and Alzheimer’s disease will be occasionally carried out at the medical facility. Physiotherapy will also be undertaken in order to strengthen the child’s muscles. The immediate family of the individual will also be trained on the care that these persons should be given. Since these individuals require special diets and academic needs, the services of trained dieticians and therapists will be enlisted. Schools for children with special needs are located around the country and medical personnel will regularly visit such institutions to check whether the set requirements have been met. Individuals with mild cases of the disorder can be allowed to take the regular curriculum with other students not affected with the disorder.

Role Played by Healthcare Professionals in the Management of Down Syndrome

The importance of healthcare professionals in the management of chronic diseases cannot be over-emphasized. These personnel play an important role in the advancement of the health of those affected with a disease or disorder.

The professionals are in the forefront in training and educating the public on the care for patients under the home based care program. They are part of the medical response systems and are prepared for any health emergency at local, regional or national levels.

The health care personnel are also at the front line in increasing health literacy among the citizens of a country. This is essential because it eradicates secondary prevention. It has been noted that lack of good communication between the patient and healthcare personnel has contributed greatly to medical errors as a result of wrong diagnosis which translates to wrong prescription. Lack of health literacy has even led to some patients giving false information to the health care personnel due to shame. Health literacy is also important in informing the public on preventive measures of certain medical conditions and infections. Health issues such as obesity and lung cancer can be prevented through health literacy as the public will be able to know how to prevent these illnesses. The healthcare personnel are better placed to offer training to community health workers. These workers are in close contact with the members of a community and can promote health ideas among the locals.

The Chronic Care Model

A chronic condition refers to a medical condition that is persistent or long-lasting, it may also refer to a medical condition that keeps recurring. This model is used by medical practitioners in the management of chronic diseases including Down syndrome. It incorporates the community and the health system in the management of these conditions.

The model is applied in order to achieve better outcomes and it focuses on educating the patients through health care professionals so that they can accept their condition. A comprehensive medical care requires that patients visit medical personnel for long hours and this can lead to poor services due to limited staff.

This model therefore gives a summary of the elements for improving care for patients with chronic diseases; these are the health systems in collaboration with the community (Chronic Disease Management, 2007). This model has resulted to a rise in the life expectancy of individuals with Down syndrome to 60 years.

Conclusion

We should not discriminate against Individuals suffering from Down syndrome; be it in the house setting, educational institution, and social places or at the workplace. Having a baby with Down syndrome in the family requires that every member adjusts to assist him/her in the daily activities. Children may feel that their parents are paying more attention to this child than them; this can be solved by informing them about the condition. This helps to dispel any myths held about the disorder. Local authorities can also take it upon themselves to educate the public about this disease and on the need to avoid discriminating against those affected. Children suffering from milder cases of Down syndrome should be allowed to attend normal schools and partake in the daily activities at the school.

Reference List

Centre for Disease Control and Prevention (2010). Birth Defects: Down syndrome. Web.

Chen, H. (2010). Emedicine: Down syndrome. Web.

Chronic Disease Management ( 2007). British Columbia’s Expanded Chronic Care Model. Web.

Macnair, T. & Hicks, R. (2010). Physical Health: Down’s syndrome. Web.

March of Dimes (2010). Down syndrome. Web.

Mothers 35 Plus (2010). Down syndrome. Web.

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