Alzheimer Disease - Essay Example

Alzheimer Disease: Should your company initiate a genetic screening test for Alzheimer's Disease (AD). "Alzheimer is a progressive and Fatal BrainDisease. It is a brain disorder that involves gradual mental deterioration" as defined by Griffith, Moore and Yoder. In simple words it is described "as being triggered by a Beta-amyloid, a protein present in the brain". This protein is affected in some way and starts growing smaller and begins to waste away. This would explain the forgetfulness and confusion that an Alzheimer's Disease patient experiences. It is the 7th leading cause of death and hence a concern which needs complete attention. Alzheimer's disease is the most common form of dementia that attacks the brain and accounts for 60 to 80 percent of cases. The more gradual form, with slow progress of symptoms, begins around ages 65 to 70 and affects approximately 1%-6% of the AD patients. See Table 1.1. About 60% of early-onset AD is familial, with 13% being inherited due to family history [Rocca et al 1991, Campion et al 1999]. A rapidly progressive form begins around ages 36 to 45. Both sexes are affected usually beginning in middle age and older adults, but women are more likely to develop Alzheimer's than men, as women live longer, on average, than men. According to the research from the Aging, Demographics and Memory Study (ADAMS), 14% of all people aged 71 and older have dementia. The estimate done in 2008, states that 2.4 million women and 1 million men aged 71 and older have dementia. As many as 5.3 million people in the United States are living with Alzheimer's. This figure includes 5.1 million people aged 65 and older and 200,000 individuals under age 65 who have younger-onset Alzheimer's. Based on these estimates, approximately 500,000 Americans under age 65 have Alzheimer's or other dementia. Of these, about more than 46% are estimated to have Alzheimer's disease. See Table 1.2 Genetics: AD is a genetically complex and heterogeneous disorder. Particularly for genetic studies, Alzheimer's disease is often categorized according to age. (Psychiatric genetics: applications in clinical practice By Jordon W. Smoller, Beth Rosen Sheidley, Ming T. Tsuang, page 180). A prodromal phase of AD, marked by mild memory loss with little or no impact on fuction, is being recognized. Commonly knowm as the "Mild Cognitive impairment". (Petersen et al. 1999) Mild cognitive impairment is a major focus of research to facilitate early intervention while functional status is preserved. It can be further classified into Psychiatric Genetics or Molecular Genetics. Late on-set Familial AD: According to Smoller, Sheidley and tsuang, the research evidence proves the presence of additional AD genes. For example, the family history (Payami et al, 1997) or monozygotic twin status (Bergem et al, 1997) remains after APOE4 is controlled for. Also, a segregation analysis points to the existence if many additional late on-set AD genes (Daw et al, 2000) and the peak age at onset is in the 60's. Linkage analysis has provided several clues to where such AD genes may reside (reviewed in Bertram and tanzi 2004; Kamboh 2004). Other than the APOE region on chromosomes 9, 10 and 12. (Blacker et al 2003); Myers et al 2002). More than 200 genes have been tested for association with AD, with discouraging results (Alzheimer research Forum 2005; Kamboh 2004). There is a possibility of huge understanding in AD genetics. The discovery of the APP, PSEN1, and PSEN2 has contributed greatly to the AD, and at least 20 drugs are in the process of development in genetics research. These may help in early detection and intervention and further prevention. In addition, the study can help in providing genetic counseling and genetic testing for patients with family history. Early-onset familial AD (EOFAD): Early-onset cases can occur in families with generally late-onset disease (Brickell et al 2006). At least three subtypes of molecular genetics EOFAD (AD1, AD3, and AD4) have been identified based on the causative gene. The relative proportion of each subtype and the causative genes are summarized in Table 1.4 (Sherrington et al 1996, Campion et al 1999, Janssen et al 2003, Raux et al 2005). It is likely that other genes will be identified as a cause of EOFAD because kindred's with autosomal dominant FAD with no known mutations in PSEN1, PSEN2, or APP have been described (Cruts et al 1998, Raux et al 2005). Initiating a Genetic screening: Since AD is genetically heterogeneous, genetic counseling of persons with AD and their family members must be modified to the information available for that family. "Genotyping is a testing that reveals the specific alleles inherited by a person, mainly useful for situations in which more than one genotypic combination can produce the same clinical presentation, as in the ABO blood group, where both the AO and AA genotypes yield type A blood." It must be clearly mentioned that AD is common and that the possibility of developing dementia is approximately 10%-12% in an overall lifetime risk for any individual. Single occurrence of AD in a family have an increasing lifetime risk of developing AD which is approximately reported as a 20%-25% risk. This risk is approximately 2.5 times that of the background risk (27% vs. 10.4%). In contrast, early-onset familial Alzheimer disease (EOFAD) is inherited in an autonomic dominant manner. Establishing the diagnosis of Alzheimer disease depends on clinical-neuropathologic assessment. Neuropathologic findings of -amyloid plaques and intraneuronal neurofibrillary tangles remain the gold standard for diagnosis. The clinical diagnosis of AD, based on signs of slowly progressive dementia and findings of gross cerebral cortical atrophy on neuroimaging, is correct approximately 80%-90% of the time. The association of the APOE e4 allele with AD is significant; however, APOE genotyping is neither fully specific nor sensitive. While APOE genotyping may have an adjunct role in the diagnosis of AD in symptomatic individuals, it appears to have no role at this time in predictive testing of asymptomatic individuals. Three forms of early-onset familial AD (EOFAD) caused by mutations in one of three genes (APP, PSEN1, PSEN2) are recognized. Molecular genetic testing of the three genes can be carried out clinical laboratories. Prevalence of Alzheimer Disease Alzheimer's Disease is the most common cause of dementia in Europe and North America. It estimates to about four million people affected in America. The prevalence of Alzheimer's Disease increases with age. Approximately 10% of individuals over age 70 years have significant memory loss and more than half of these individuals have Alzheimer's Disease. An estimated 25% - 45% of persons over age 85 years have dementia. The incidence of AD rises from 2.8 per 1,000 person years in the 65-69 year age group to 56.1 per 1,000 person years in the older than 90 year age group. Alzheimer's disease is developed in stages. The symptoms are: Early stages: The patient diagnosed with AD in the initial stages may suffer from absentmindedness of the events that took place recently. He may even find complication in performing rational everyday jobs which increases as he grows older, or maintaining simple household tasks. All these factors could lead to changes in personality, including poor urge control and poor opinion. Later stages: The patient diagnosed with AD in the later stages may find difficulty doing simple tasks, such as selecting clothes, solving problems. He may be unable to recognize familiar persons like family members or friends. The patient could be disinterested in grooming, personal care and hygiene. He may find difficulty in doing self work like eating or drinking and hence require help to carry on with the daily activities. The patient suffering from AD could have serious violent behavior and paranoia. He may get angry at little things and not accept the fact that something is wrong with him. At most of the times he may be wandering away, living in his own world not aware of what is happening around him and may even lack in interest in sex. He could be also suffering from anxiety and insomnia. Advanced stages: This is the final stage of a patient suffering from AD. At this stage there is a complete loss of brain cells. The patient completely loses his memory and is unable to speak. He loses control over his body and may not be able to move all; he also loses control over his bladder and bowel movement. At this stage the patient is totally dependent on others and thus needs care 24x7. Prevention: There are no specific details on how one can prevent AD. Extensive research still continues in the aspects of prevention of AD. But researchers believe that a healthy lifestyle will help. Research shows that factors related to blood circulation may be involved such as those causing heart disease or stroke. In most cases the patients suffering from AD, die due to other infections or illnesses, so it is advisable to keep good health. This can be done by exercising, or brisk walking, eating healthy and staying fit. Additionally certain genetic tests help to identify inherited forms. Diagnostic measures or tests cannot be taken to check AD. But medical tests may include cognitive tests (answering questions), Blood, Urine and Spinal fluid studies, CT, MRI, PET scans, may further help to rule out other disorders. Treatment: Treatment of AD depends on the stage of the disease. Different drugs are accessible that can aid in slowing down the progress of the disease. Medicines to treat the behavior symptoms can help make a patient more comfortable and make their care easier. But those with advanced stage disease regularly need the care provided in an assisted living facility that which handles Alzheimer's patients. Infections and other complications are the major causes of death in Alzheimer's patients. Final stages of the patient will lead to death. The probable outcome is that there is no cure. Treatment helps slow the progress and helps ease symptoms. Patients may progress from onset of symptoms to end-stage disease in 8 to 10 years. But for patients who live through the entire course, death generally occurs within 10 -20 years. However, because of the late on-set, many patients die due to other illnesses. This may vary from person to person. Medication: Drugs that slow the progress of the disease for a limited time are usually prescribed. Drugs like Aricept, Exelon and Razadyne are prescribed to patients needed to help control behavior symptoms (insomnia, agitation, wandering, depression, anxiety, and others) in the early stages. These drugs may improve the memory slightly and may calm the patient. As the condition progresses all activities need supervision. A diagnosis of Alzheimer's is devastating, both for the patient and the family. As the treatment of Alzheimer's Disease is very expensive. In America the cost of Alzheimer's to Medicare, amounts to more than $ 172 billion every year. According to the recent research done in 2009 the Healthcare costs for Americans age 65 and above suffering from Alzheimer's have tripled. Hence it is essential to take general measures like, educating ourselves as much as possible about what to expect and how to plan for it. With early diagnosis the patient can take part in making decisions for the future. Handling and caring for a family member with Alzheimer's is a very difficult task, both physically and mentally. To watch a loved one waste away day after day, unknowingly who they are is the most difficult thing to accept. Joining a support group for caregivers or a nursing home may be helpful. There are various caregivers associations for support and help. These nursing homes may not be the most amusing place to be, but it may be the only way out. Caregiver's facility will provide 24 hours service and take good care of the patient, by feeding, cleaning, washing, giving medication etc. One may feel guilty about leaving a loved one in such a facility, but the fact is that it is probably a smart choice not only for your family but for the health and safety of the patient as well. Till now there is no cure for AD, but we pray that one day it will, till then we must deal with this disease in the best way we can. According to the above research study done and all the merits and demerits checked I feel that the company should initiate a genetic screening, especially for individuals with a family history. This would not only help the person to get medical treatment on time, but also get support from people around him to understand him and help in solving his problems or difficulties. The company could also initiate a medical insurance, so that the family may not have to bear the entire cost of treatment which is very expensive and devastating. The company could also compensate the person diagnosed with Alzheimer's Disease, according to the position he holds in the company. And thus in a such a way can send a message that "We Care". Appendix Table 1.1 Causes of Alzheimer Disease Cause % of Cases Chromosomal (Down syndrome) Read More