The benefits of an early diagnosis of Alzheimer s disease - Research Paper Example

? The Benefits of an Early Diagnosis of Alzheimer ’s Disease While most people are hesitant about testing for Alzheimer’s disease, others feel that early detection and preparation is the key to understanding and coping with the disease. This advanced knowledge would lead to a better quality of life for diagnosed individuals and their families. Approximately 5 million Americans have Alzheimer’s disease and because more people are living to their 80s and 90s that number is expected to quadruple by 2060.Although there is no cure for AD some people wish to get tested for it earlier for various reasons including a family history of AD. If their risk is determined to be high they feel that they will be more in control of their health and can plan accordingly for their future health care. If they are determined to have a lower risk it would relieve their anxiety. People may even be able to adopt healthier habits in order to mitigate the effects of AD. Many people find these tests to be a valuable tool for assessing risk. Since an early diagnosis of Alzheimer’s disease can help prolong symptoms researchers are working to devise more extensive ways of making early detection of AD possible. While most people are hesitant about testing for Alzheimer’s disease, others feel that early detection and preparation is the key to understanding and coping with the disease. This advanced knowledge would lead to a better quality of life for diagnosed individuals and their families. An increasing number of people have developed Alzheimer’s disease due to the aging baby boomer generation as well as increased life expectancy. Approximately 5 million Americans have Alzheimer’s disease and because more people are living to their 80s and 90s that number is expected to quadruple by 2060. (Insel & Roth)An early diagnosis can help prolong the development of disease symptoms allowing individuals to be productive for as long as possible. (Dwyer, n.d.) “An early diagnosis is crucial because that is when the most can be done to slow the progression of symptoms.” (Dwyer, n.d., p2) Other reasons for an early diagnosis of AD include the identification of conditions that are commonly linked to dementia and AD such as depression, medication side effects, substance abuse, vitamin deficiencies, dehydration, bladder infections or thyroid problems; an avoidance of misdiagnosis and unnecessary treatments and the ability for patients to receive proper care as well as the ability decisions regarding their future health care. (Dwyer) Further an earlier diagnosis of Alzheimer’s may pave the way for more extensive studies of the causes of it. Of the approximately 5 million Americans who have Alzheimer’s disease approximately 250,000 people have early-onset AD in which its symptoms normally emerge in people under the age of 65. (Goldman et. al, 2011). Overall the risk of developing Alzheimer’s disease is 10- 12% for individuals. The risk greatly increases when people have a family history of the disease. These people understandably are worried about their potential for getting AD and may wish to get tested for the disease. According to the Dwyer article some of the early warning signs of AD include memory loss that interferes with daily life, chronic inability to plan for or solve problems, inability to complete daily tasks, confusion with time or place, problems with saying or writing words and withdrawal from work or social activities. Doctors mainly diagnose Alzheimer’s disease by examining brain tissue during a biopsy. (Dwyer) Generally the doctors diagnose AD by combining information from a patient’s medical history, neurological and physiological tests, physical exams, blood and urine tests and a brain imaging scan. Alzheimer’s disease is diagnosed by ruling out diseases with similar symptoms during various tests. “Good early results have also been seen by measuring levels of a specific protein in spinal fluid.” (Insel & Roth, 2008, p. 354). A definite diagnosis of Alzheimer’s disease is made during an autopsy because that is when brain tissue is examined. (Dwyer, n.d.) Several recent studies presented at the Alzheimer’s Association International Conference in Vancouver indicated that changes in the way a person walks -decreased speed and decreased control are closely linked to severe decreases in cognitive control. This can subsequently increase the risk for Alzheimer’s disease. (Belluck, 2012) According to Molly Wagster of the National Institute of Aging: “Changes in walking may predate actually observable cognitive changes in people who are on their way to developing dementia.” (Belluck, 2012, para.4) Slower and less controlled walking is not necessarily signs of “getting older”. Prior research has indicated a correlation between movement and dementia. According to Dr. Stephanie Studenski a geriatrician “It’s like driving a car- you need an engine, a chassis and steering.” (Belluck, 2012, p.2). She likened the heart, lungs and blood to an engine, the muscles, joints and bones to the chassis and the steering to nervous system. (Belluck, 2012)The studies that were done used various methods and tools to measure changes in the way people walked. One study involved the use of an electronic walkway,” a long mat outfitted with sensors that measure small differences in walking speed, cadence (the number of steps per minute), the width of the stride and variability.” (Belluck, 2012, p2) Participants in the study first walked normally on the electric walkway then walked on it while performing various cognitive tasks. Over 1000 people of varying mental abilities and varying levels of AD participated in the study. (Belluck, 2012)A 72 year old participant was able to walk normally on the walkway during her first test without incident. However study administrators determined that she had mild cognitive impairment after her second walking test where she had difficulty walking and counting backwards from 50. Similar impairments were seen several times throughout the study. A similar study done at the Mayo clinic, which involved basic walking reported similar findings. Due to these findings researchers feel a simple screening tool can be developed which detect a mobility problem in patients. The researchers who conducted the study feel that seeing how a patient walks should be part of any routine physical exam. (Belluck, 2012) According to Laino researchers have determined that if individuals are informed early that they could potentially develop Dementia and Alzheimer’s disease and seek prompt treatment for chronic conditions that have similar symptoms, this would prevent a future diagnosis of AD. This early awareness may encourage them to adopt healthier lifestyle choices. For example they would need to quit smoking, modify their diet and keep active. (Laino, 2011) According to the Laino article “Even a 25% reduction in the seven risk factors, which also include depression, diabetes, and low education, could prevent 3 million cases of Alzheimer's disease worldwide and nearly half a million in the U.S. alone.” (Laino, 2011, para. 2) The article further states that since there is no cure for AD prevention is essential. Prior to making the determination about treatment and prevention, researchers first identified the seven most common risk factors for Alzheimer’s disease, which results in 35 million cases of Alzheimer’s disease internationally. (Laino) They figured out the extent to which individual factors determine risk. The researchers then considered the total number of people affected by each risk factor within the United States and worldwide. It was found that these factors increase risk for the condition similarly. As a result of these findings it was determined that “the most significant risk factor for AD was limited formal education and reduced cognitive activity, accounting for 19% of cases internationally.” (Laino, 2011, para.8) Fourteen percent of cases were due to smoking, thirteen percent to physical inactivity, ten percent to depression, five percent to high blood pressure, two percent to diabetes and two percent to obesity. In the United States it was determined that lack of exercise contributed to twenty-one percent of preventable cases of AD. Fifteen percent was due to depression.; Eleven percent of cases were due to smoking, eight percent of cases were due to high blood pressure, seven percent to midlife obesity, seven percent to low education, and three percent to diabetes. (Laino, 2011)The study was found to be limited by some Mayo Clinic researchers because it has not been proven that the risk factors studied definitely cause Alzheimer’s disease. It was also unclear whether or not removal of certain risk factors would decrease risk factors for AD. The study does confirm that if some risk factors are avoided it can lessen the impact of the disease. Recently Mary Newport, a Florida doctor took her husband Steve for an examination when he began experiencing unusual symptoms such as fatigue, unusual forgetfulness, and inconsistent walking. The doctor who examined Steve gave him a clock tests “a simple tool that is used to screen people for signs of neurological problems including Alzheimer’s disease and other dementias.” (Heerema, 2012, para1) The doctor asked Steve to draw a clock showing a specific time. He wrote random numbers in various directions on a page and what he wrote did not resemble a clock. Dr Newport was told by her husband’s doctor that he was on the verge of developing a severe form of Alzheimer’s disease that usually began in a person 10 -20 years prior to severe degeneration. The doctor told her the symptoms resembled those of Type 1 and Type 2 diabetes. After the examination Dr. Newport researched her husband’s condition and for ways to keep him functional for as long as possible. Dr Newport found that Steve’s condition was “characterized by insulin deficiencies which prevented the brain from accepting glucose.” (cbn.com, 2012 1:46)Without it the cells die. However if the cells will not accept glucose they will accept ketones that are taken from triglycerides most commonly found in coconut oil. (cbnnewsonline.com, 2012 5:46)Dr. Newport began adding coconut oil to Steve’s diet. When Steve saw the doctor two weeks later he was given the clock test a second time and there was evidence of “stunning improvement.” (cbnnewsonline.com, 2012, 2:10) The drawings he made looked more like a clock. Dr. Newport noticed that Steve improved mentally, physically and emotionally. His behavior was not erratic, he did not forget things and he was more energetic. She attributed these changes to the coconut oil and continued to add it to his diet. A month later when Steve was given the clock test a third time, he passed it. Dr. Newport wrote a book about this entitled Alzheimer's disease: What If There Was a Cure? She included her husband’s diet in the book. Dr. Newport received a lot of positive feedback on her book from people who had gone through similar experiences. In recent years scientists have determined that coconut oil can help with good cholesterol. Aside from Alzheimer’s disease coconut oil can help with conditions such as Parkinson’s disease and other forms of dementia. However the coconut oil must be non-hydrogenated. (cbnnewsonline.com, 2012, 5:46) The extent to which coconut can help improve the course of these diseases has not been scientifically proven. A simple blood test that may be capable of showing signs of Alzheimer’s disease before symptoms appear is being developed. Researchers from the University of Newcastle in New England developed a highly accurate predictive blood test. After analyzing an extensive Alzheimer’s database, and taking blood samples from 566 people of varying cognitive functioning and varying levels of Alzheimer's disease, researchers studied the levels of approximately 200 proteins in blood from people with Alzheimer’s disease. They determined that they can predict who shows signs of the early stages of the disease with approximately 90 percent accuracy. The goal is to develop a blood test that did not penetrate the body and is economical. According to senior researcher Pablo Moscato “The holy grail is to try and have a test that ... will not involve imaging, because when you see something with images it is perhaps too late,” (Mandal, 2012, p1) The test would be used to analyze individual risk for Alzheimer’s disease. Moscato further stated that “if biological markers were detected early (during the blood test) it would allow people to make lifestyle changes such as more exercise.” (Mandal, 2012, p2) (Mandal, 2012) Two blood tests done a year apart on individual patients in order to compare changes in blood levels. The study was funded by the University of Newcastle and the Hunter Medical Research Institute. Since some evidence indicates that Alzheimer’s disease begins long before symptoms appear, and the brain cannot restore itself after severe decline from the disease, research has indicated a need to develop a specific diagnostic test which would provide for an early diagnosis of AD. “A positive diagnosis of Alzheimer’s renders redundant the tests to exclude other causes of dementia, and enables accurate distinctions to be made between Alzheimer’s and benign age-related cognitive decline.” (Maybury, n.d., para.5) In 2010 medical experts contemplated changing the diagnostic tools and categories for early detection of Alzheimer's disease when there is minimal evidence of symptoms. These diagnostic tools would include biomarker tests such as MRI’s and spinal fluid tests to detect changes in the brain. Researchers are also considering a new diagnostic category for AD, pre-clinical : which would describe Alzheimer’s disease before any symptoms appear.(“New Early Alzheimer’s Test Raise Hope for Improved Treatment”)This would be followed by the second stage of mild cognitive impairment and then full blown Alzheimer's dementia. The Risk Evaluation and Education for Alzheimer’s disease (REVEAL) study was an ongoing long running study conducted by researchers from the Boston University School of Medicine. In the study the BUSM researchers and other university collaborators randomly assigned 162 adults who do not have symptoms for AD , but have with a family history of the disease to two groups: One group was told of their risk factor for the development of Alzheimer’s disease and their APOE status. The other group was also told of their risk factor for AD but not their APOE status. These participants were screened for emotional stability by genetic counselors. Six months later, and then a year later the researchers measured symptoms of anxiety, depression and distress having to do with test results and found they have experienced similar levels of anxiety, depression or test related distress. This suggested that learning about an increased risk factor for the disease did not necessarily lead to psychological distress and psychologically benefitted individuals who were determined not to be at risk.(“Alzheimer’s Risk: Would You Want to Know?”) According to Robert Green MD a professor at the Boston University School of Medicine and lead author of the REVEAL study, when the study began it was controversial because many organizations such as the Alzheimer’s Association feel that genetic testing for AD is unnecessary because there is no cure, the results are not definitive and people may not understand the results leading them to be needlessly disturbed by them. However Dr. Green felt that individuals may have their own reasons for wanting to undergo genetic testing for AD , stating “I think it’s a little patronizing for the medical establishment to say, ‘We could give you that test, but we don’t think you can handle it.” (Grady, 2007, para.8) While recent research has indicated testing people for the APOE-4 gene can be safe and helpful to patients in certain contexts, (Goldman, 2011) most physicians are reluctant to inform their patients about the genetic risks of Alzheimer disease because of the complex genetic features of the disorder.(Goldman, 2011)More individuals are becoming aware of their family history and because of this more patients are requesting testing for Alzheimer’s disease. (Goldman, 2011) “Genes play a role in Alzheimer’s disease, but in most cases the role is not fully understood.” (Grady, 2007, para.1) A diagnosis resulting from genetic testing may have several benefits. It can allow individuals and their families to have advanced knowledge of their risk potential and allows family members who test positive for risk factors for AD to choose predictive testing if desired. Research has shown that soon after the diagnosis, most people were able to cope effectively and were happy having advanced knowledge about their potential for risk. They generally wanted the test so that they may make plans for the future and relieve their anxiety if they were deemed to be at little or no risk for AD. Genetic testing is primarily recommended for people who have a family history of Early Onset Alzheimer’s disease. Healthy people who have family members who developed this form of AD may want to know if they are at risk. Some people may not want to get tested until they show symptoms. (Fogarty, 2001) “In some cases genetic testing can also be used to confirm a diagnosis of Alzheimer’s disease in people who already show symptoms.” (Fogarty, 2001, para.1) Two types of genetic testing are commonly done: Testing for Predictive Genes and testing for susceptibility genes. When testing for predictive genes clinicians look for mutations in individual genes called APP, PS1 and PS2. If the parent of the participant has a mutation in one of these genes, the individual is at great risk for developing AD. This pattern of inheritance is known as autosomal dominant. (Fogarty, 2001) Susceptibility testing involves testing for any form of the APOE gene. If individuals are shown to have the e4 form of the gene they are at the greatest risk for developing Alzheimer’s disease. One study has even indicated that the e4 form affects behavior at least 50 years prior to symptoms appearing. (Cochran, 2011) Scientists recommend that genetic testing for AD should be done along with counseling from a genetic counselor. “Meeting with a genetic counselor can help you understand both whether you are eligible for genetic testing and what risks and benefits there are to testing.” (Fogarty, 2001, para. 1) The results of a 2001 general population survey indicated that approximately 45% of respondents would take a hypothetical genetic test to predict whether they will eventually develop Alzheimer’s disease. Of that percentage, the majority of respondents said they would take the test even if there was a chance the results were incorrect. This prior knowledge would make them feel more in control of their health. When asked what they would do if they tested positive most of the respondents stated they would sign advanced directives and get more extensive health coverage . The results indicated that most people feel that this information is important although they may not necessarily understand the significance of the results and the need for genetic counseling. (Neumann et. al., 2001)In 2005, a study was conducted investigating appraisals, the reasons why individuals may want to undergo APOE susceptibility testing for Alzheimer disease (AD) and the ways in which they cope with their diagnoses. The study involved sixty adult offspring of Alzheimer’s disease patients who took part in the Alzheimer’s disease (REVEAL) study. Researchers used the Transactional Model of Stress and Coping to understand how individuals cope with APOE genetic susceptibility testing. According to the model individuals assess threats to their health according to their perceptions of their risk to an illness, its severity and their ability to control the illness as well their reactions to it. The coping mechanisms of various individuals would then determine how they would deal with the illness. (Gooding et. al., 2006) The study was conducted to “explore the use of genetic testing as a way to cope with the threat of being at increased risk for AD.” (Gooding et. al 2006, p. 261) Participants were then interviewed about their experiences. Most of these participants felt the need to get testing because of their family history of the disease. Others were frightened about getting the disease because they did not want to be a burden to family members when they get older. Many of these people felt that the test was valuable because even if they were determined to be at great risk for AD. Having this advanced knowledge made them feel as if they knew what to expect in the future. They had control over their health and future health care decisions. According to some responses from people who tested negative for the potential of AD risk factors, they were relieved that they were not as likely to develop the disease, even if they knew there were no guarantees. Others who tested positive and negative also stated that having this prior knowledge would help them take steps to alleviate the effects of the disease. This led researchers to conclude that “even without prevention or treatment options, genetic testing may be a useful coping strategy for some at-risk individuals.” (Gooding et.al, 2006, p.259) The results seem to indicate that if genetic testing for AD becomes more widely available doctors need to discuss the values and limitations of it. Doctors also should discuss individual patient’s coping patterns and the reasons they make certain decisions that are related to their future health care. Researchers for the Alzheimer’s Disease Neuroimaaging Institute will conduct a study where they will try to find the origins of memory loss. The goal of the study is to determine if physical changes from AD are interrelated with genetic abnormalities in people with various levels of cognitive impairment. These differences would then be compared with findings from people who seem to lack genetic impairment. According to Aubrey Milunsky director of the Boston University Center for Human Genetics, “If there’s ever to be progress in the discovery of the fundamentals that lead to Alzheimer’s, this is the way to do it,” (Cortez, 2012, para. 4) By doing extensive DNA mapping of healthy people and people in the earlier stages of Alzheimer’s disease scientists may be able to find differences in the various causes of the disease progress or help prevent it completely. The results of this extensive study are expected to come in within the next three- four months. The researchers wish to study the genetic makeup of all patients. Approximately 10 genes are linked to Alzheimer’s disease. However this relationship is not completely understood. (Cortez) The researchers believe that once they know definitively what exactly causes the disease there will be more effective and less invasive treatments for it. They feel that early detection will result in greater understanding of the disease. Another purpose of the eight year study is to attempt to understand the role genetics plays in the clinical condition of individual patients. In conclusion although many people have various reasons why they are reluctant to get tested for Alzheimer’s disease, early detection and preparation can help individuals at risk and their families understand the disease and prolong the appearance of symptoms in those who test positive for as long as possible. The research has shown that if given the opportunity most people would want to know if they could be at risk for Alzheimer’s disease because this advanced knowledge would likely motivate them to make plans for the future and/or make small changes that could alleviate some of the effects of AD. An earlier diagnosis of Alzheimer’s may pave the way for more extensive studies of the causes of the disease. References Belluck, P. (2012, July 16). Footprints to Cognitive Decline and Alzheimer’s Are Seen in Gait. Retrieved July 17, 2012, from The New York Times Web Site: http://www.nytimes.com/2012/07/17/health/research/signs-of-cognitive-decline-and-alzheimers-are-seen-in-gait.html?_r=3&adxnnl=1&src=recg&adxnnlx=1342634614-PDi0KkD/rY+lJLpV5x/5Wg Cochran, Lin (July 28, 2011). What Good is Early Detection of Alzheimer's Disease?. retrieved August 1, 2012, from Alzheimer's Reading Room Web Site: http://www.alzheimersreadingroom.com/2011/07/what-good-is-early-detection-of.html Cortez , M. (July 2, 2012). DNA Mapping of Alzheimer’s Patients Gives Deep Dive View.. retrieved July 26, 2012, from Bloomberg L.P. Web Site: http://www.bloomberg.com/news/2012-07-02/dna-mapping-of-alzheimer-s-patients-gives-deep-dive-view.html Dwyer, K. Early Detection of Alzheimer's Disease. (n.d.) retrieved July 25, 2012, from Today's Caregiver Web Site: http://www.caregiver.com/channels/alz/articles/early_detection_of_alzheimers.htm Fogarty, M. (2001, February, 23). Genetic Testing for Alzheimer's Disease in People Without Symptoms. retrieved July 19, 2012, from Genetic Health Web Site: http://www.genetichealth.com/ALZ_Genetics_Testing_in_Healthy_People.shtml Goldman, J., Catania, J., Hahn , S., Eckert, S., Butson, M., Rubuagh, M., Strecker, M., Roberts, S., Burke, W. Mayeux, R. & Bird, T. Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Genet Med. 2011 June; 13(6): 597–605. doi: 10.1097/GIM.0b013e31821d69b8., 13(6). retrieved July 17, 2012, from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3326653/pdf/nihms365764.pdf Gooding , H. Linnenbringer, E., Burack, J., Roberts, J.S., Biesecker, B. & Green, R. (2006). Genetic susceptibility testing for Alzheimer disease: Motivation to obtain information and control as precursors to coping to obtain information and control as precursors to coping . Patient Education and Counseling 64 (2006) 259–267, 64. Retrieved July 19, 2012, from http://cirge.stanford.edu/activities/documents/DTCGoodingAlzheimersTesting.pdf Grady, D. (2007, December 26). Testing for Alzheimer's In the Absence of a Gene That Says ‘Yes’ or ‘No,’ the Value of One That Says ‘Maybe’ Is Questioned . Retrieved July 17, 2012, from New York Tines Web Site: http://www.nytimes.com/2007/12/26/health/26gene.html Heerema, E. (February 13, 2012). The Clock-Drawing Test. retrieved July 26, 2012, from About.com Web Site: http://alzheimers.about.com/od/testsandprocedures/a/The-Clock-Drawing-Test.htm Insel P. & Roth W. (2008). Core Concepts in Health (Tenth Edition). New York: McGraw Hill Inc. Laino, C. (July 19, 2011). Researchers Say Reduction in Risk Factors Could Lower Rate of Alzheimer's Disease. retrieved July 25, 2012, from WebMD Web Site: http://www.webmd.com/alzheimers/news/20110719/lifestlye-changes-may-prevent-alzheimers Mandal , A. (April 2, 2012 ). Blood Test for early detection of Alzheimer's Disease. retrieved July 27, 2012, from News Medical Web Site: http://www.news-medical.net/news/20120402/Blood-test-for-early-detection-of-Alzheimere28099s-disease.aspx Maybury, B. Towards Early Diagnosis of Alzheimer’s Disease. (n.d.) retrieved July 30, 2012, from http://www.bgs.org.uk/pdf_cms/essays/2012_Maybury_Amulree.pdf Neumann, P., Hammitt, J.K., Mueller,C., Fillit,H.M., Hill,J., Tetteh,N. &Kosik K. Public Attitudes About Genetic Testing For Alzheimer's Disease Health Affairs, 20, no.5 (2001):252-264 CBNNEWSONLINE.COM (Poster) (2012, January 5). Coconut Oil Touted as Alzheimer's Remedy Retrieved July 24, 2012 from http://youtube.com/ZZOR-Qd3QSg   Alzheimer's Risk: Would You Want To Know?. (July 16, 2009). retrieved July 31, 2012, from Science Daily Web Site: http://www.sciencedaily.com/releases/2009/07/090715174930.htm New Early Alzheimer's Test Raises Hopes for Improved Treatment. (July 16, 2010). retrieved August 1, 2012, from PBS NEWSHOUR Web Site: http://www.pbs.org/newshour/bb/health/july-dec10/alzheimers_07-16.html Read More