Huntington's Disease - Research Paper Example

Huntingtons Disease (HD) Introduction The Huntington’s disease is a gradual brain disorder that results from a single defective gene on the fourth chromosome of the 23 human chromosomes that contain the entire genetic code of a person. The disorder is brain inheritable and causes the cells in a section of the brain to die. The section of the brain that HD affects incorporates the caudate, the putamen and may progress to the cerebral cortex. As the disorder spreads in and impairs the brain, the cells die causing the person suffering to lose control of their movements, inability to recall events and make effective decisions. The disease can result in incapacitation of the patient and eventual death. The defect occurs as dominant meaning that any person that inherits the same from the parent with the HD eventually develops the condition later in their life. George Huntington is the physician that first described the disorder in late 1800s; hence, the name (Andersson, Juth, Petersén Graff & Edberg, 2013). Notably, the defective gene codes the blueprint of a protein called huntingtin identified by scientists as the defective form that causes the HD. Characteristic features of HD The overall characteristic features that depict the occurrence of the disorder in a person as it progresses include causing movement, cognitive and psychiatric related defects. These defects have a vast spectrum of signs and symptoms, which manifest accordingly. Additionally, the trends in the symptom manifestations vary greatly with respect to the people affected depending on several factors (Ciarmiello, Cannella, Lastoria, Simonelli, et al. 2006). Moreover, the Huntington’s disease appears more dominant with the course of development, reflecting in the functional ability of the person infected. The related symptoms of HD incorporate several disorders that affect the voluntary and involuntary body systems. The observable characteristics include involuntary jerking that resonates with writhing movements also called chorea. Another feature is muscle related problems such including rigidity of the muscle or contracture also called dystonia (Semaka, Balneaves, & Hayden, 2013). Slow or abnormal eye movements also feature as observable symptoms of movement defects related to HD. Moreover, impaired gait, posture and loose balance of the body are notable in identifying the defect. Difficulties can also reflect in the physical production of speech and process of swallowing, an observation key in aggravated cases of Huntington’s disease. The observed impairments in the voluntary movements have a greater impact of the ability of the person to work, perform daily activities and communicate. The elevated depiction of the voluntary movements’ defects can result in the inability to remain independent. Second set of symptoms incorporates those associated to the cognitive development of the patient. The cognitive behaviors and signs of the HD include difficulty in constructively organizing, prioritizing and focusing on given tasks (Norrgard, 2008). This symptom entails the leading cognitive identifier of the Huntington’s defect. Another observable sign is the lack of flexibility accompanied with the tendency to remain stuck on a thought, involuntary behavior or action (Paulsen, Karin, Nehl & Stierman, 2005). Additionally, the person suffering the condition depicts observable signs such as the lack of impulse control, which in some aspects may result in outbursts or acting without thinking for instance, in behaviors depicting sexual promiscuity. The person suffering the condition also depicts lack of awareness on the behaviors and abilities of the individual (Tsuang, Almqvist, Lipe, Strgar & al, 2000). The person may appear as if they are absent-minded. Moreover, the patient also depicts signs of slowness in processing their thoughts, which is manifest through actions such as delay, and difficulty in finding words to speak. Moreover, the process of learning also faces challenges; hence, the person depicts difficulties in processing and learning new information, as well as, retaining the content learnt. From a psychiatric perspective, the person depicts varied reactions, which are symptoms of the HD. Depression is the psychiatric defect most associated with the HD. Some people consider the evidence of depression as a sign that comes after diagnosis of the disorder in a person (Ellerby & Orr, 2006). However, it reality, depression occurs as a symptom of the disorder in a person before a positive diagnosis. Other signs and symptoms include the features of feeling or irritability, which causes the person to suffer an irritation from simple minor things. Irritability occurs with aspects of sadness and apathy on the person (Kandel, Schwartz, Jessell, Siegelbaum & Hudspeth, 2013). Additionally, a person may face social withdrawal, which reflects in the family and social gathering sessions such as social meetings. The person suffering HD also depicts aspects of insomnia, fatigue and loss of energy, which leaves the person tired most times. A person may also start contemplating death, dying and suicide, thoughts that increase the progress of the disorder. Additional signs also reflect in aspects of repetitive actions, elevated and sudden mood changes, impulsive behavior, and alternating depression episodes. In addition to these symptoms, weight loss also occurs on the person as the disorder progresses. Considering the juveniles, the symptoms may slightly differ from those of adults. Some of the symptoms observable in the young person’s such as teenagers and children include behavioral changes. The behavioral changes observable may feature loss of memory in academics and physical skills (Antoniades, Ober, Hicks, Siuda, Carpenter & Nemeth, 2012). Rapid notable drop in school performance and behavioral problems all depict the condition. In the physical aspects, the young person depicts signs such as contracting and rigid muscles that affect the gait of the children. Additionally, changes in the motor skills depict in the handwriting of the child. Tremors and slight involuntary shaking are physical signs in HD. The child may also experience seizures. Additional symptoms the person with Huntington’s disease depicts include aspects of delusions, hallucinations, and paranoia. These symptoms reflect at the advanced levels of the disorder, when it gets infecting major section of the brain. Diagnosis The established method of detecting and diagnosing the Huntington’s disease in a sure manner is the use of genetic testing. There exist three categories for testing the disorder. The first is the prenatal testing, which entails the processes of amniocentesis. Amniocentesis testing entails taking a sample of the fluid from around the fetus for screening. Additionally, in prenatal testing, another technique is chorionic villus sampling. This test takes a sample of fetal cells from the placenta (Ciarmiello, Giovacchini, Orobello, Bruselli, Elifani & Squitieri, 2012). The tests on this sample indicate whether the baby is inheriting the gene for Huntington’s disease. The second testing category is the pre-symptomatic testing. This test is available and most advisable for the people considered to have high risks of inheriting the HD from their parent. However, they may not be depicting the symptoms of the disorder (Bates, 2013). Therefore, this test helps facilitate their knowledge in establishing whether they have the gene causing the disorder. The last category of the diagnosis is the confirmatory testing, which establishes whether the person with the HD symptoms has the disorder. The test includes neurological and psychological tests that lead to establishing of a conclusive diagnosis of the HD. Genetic basis and basal ganglia disruption The genetic basis of the disorder is the presence of the defective gene in the patient. The defective gene observed involves presence of extra repeats of one specific chemical code in a section of the fourth chromosome in the genetic strand. The observed normal Huntington gene has between 17 and 20 repetitions among the total 3, 00 codes present. The defect that will result in the HD has 40 or more repeats; hence the measure for establishing the huntingtin protein gene (Ribaï, Nguyen, Hahn-Barma, Gourfinkel & al, 2007). There is no clear understanding from the scientists that describes the course through which such few repeats lead to the devastating ganglia disruption. Implications for genetic testing for sufferers and families The impact of the genetic testing to the patients and families of the patients is vast. Debates continue regarding the legal aspects of the case consideration, in addition to the benefits and potential harms. The elements for considering in testing include convincing them that the benefits of timely medical diagnosis for a child are justification for the genetic testing (Anderson, Louis, Stern & Marder, 2010). Additionally, the substantial benefits in psychological competency of the person in addition to the aspects of accuracy in the testing are key. The testing may prove harmful to the sufferer and family; hence the need to handle the process with care. Usually, pre-testing counseling is such means of handling the implications of the test. Notably, to the family and sufferer, the implication entails that it is beneficial as it will facilitate healthy living and treatment for the disorder. The course in this context will incorporate diet and lifestyle considerations that facilitate healthy living with the disorder (Tabrizi, Langbehn, Leavitt, Roos, Durr, Craufurd & Stout, 2009). However, the negative implication entails the sufferer, or family may receive positive tests with denial. Such occurrences lead to the patient facing discrimination from the family and the society. The family may also face discrimination from the community (Van Liew Gluhm, Goldstein, Cronan & Corey-Bloom, 2013). Thus, testing, although beneficial to the patient and family, it can result in harmful reception from patient and family, some that may lead to suicide. Ethical issues to consider The ethical factors to consider include the subject of discussing the genetics of a person. Notably, in identifying the test for a person with suicidal thinking, it is possible for such a person to commit suicide in case of a positive test (NHMRC, 2000). Secondly, in aspects where the person has mental incapacitation, issues arise from their ability to give consent for the test. Such considerations prove apparent and lead to issues of coercion on the patient. Additionally, some individuals may refuse aspects of established testing protocol, such as pre-testing counseling (Center for Genetics Education, 2013). This raises an ethical factor for consideration as the testing team cannot coerce the person and forcefully test them. Further, there are issues that arise when a health professional has believes that contact the testing, such as considering the test as inappropriate from their ethical perspective (Bates, 2013). Similarly, the patient may hold ethical perspectives that oppose the process of the testing. Thus, such situations prove significantly key in the ethical issues that impair the testing processes. In addition, genetic testing raises the subject of discrimination. For instance, the early 1970s, the US government subjected people to involuntary genetic testing for the sickle cell disorder. This procession targeted the people of African American origin and appeared as a discriminatory move against the race (Bates, 2013). Thus, in HD the genetic testing may also appear discriminatory when the process identifies that a given ethnic group is more susceptible to having the HD causing gene. Similarly, aspects of discrimination can arise in a family setting, where the members are not willing to take the test (NHMRC, 2000). The parent will face discrimination for irresponsibly passing the deficient gene to the children. The parent also suffers guilt from the realization that it is their resulting fault for passing the gene to the children (Norrgard, 2008). The patients identified to have the HD causing gene could also face discrimination from potential employers and co-workers due to their health condition. Another ethical issue is a factor of confidentiality and professionalism (Norrgard, 2008). The state laws dictate the professional to patient confidentiality, protecting the rights to protection of the patient records. Therefore, the person undergoing the test may wish to keep the findings of the testing confidentiality. However, there is fear of confidentiality breach. Therefore, the patient suffering HD should know the laws of the particulate state. The professionals may breach the information protection rights of the patient. Only in exceptional circumstances should such information be divulged Ribaï, Nguyen, Hahn-Barma, Gourfinkel & al, 2007). The goals of pre-counseling remain the best-placed means of addressing the concepts of ethical issues that arise. The professional counselor should facilitate all information to the patient before testing, including the physical, social and psychological implications of the test. Conclusion The emphasis for the HD patients is on facilitating living positively with the disorder. An integrated and multidisciplinary approach focuses on the elements of diet and supplements, exercise and spiritual and psychological support. This approach is key to helping the HD patients to live and manage the disorder accordingly. Therefore, a person with the disorder has a chance to live positive, healthy life. The thought of the ethical issues that may occur in the cases should reflect accordingly in the processes of pre-testing counseling to facilitate the individual manage the disorder. References Andersson, P. L., Juth, N., Petersén, Å., Graff, C., & Edberg, A. (2013). 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Retrieved from http://search.proquest.com/docview/220484793?accountid=458 Van Liew, C., Gluhm, S., Goldstein, J., Cronan, T. A., & Corey-Bloom, J. (2013). The functional implications of motor, cognitive, psychiatric, and social problem-solving states in huntingtons disease. Psychiatry, 76(4), 323-35. doi:http://dx.doi.org/101521psyc2013764323 Read More