Genetic Tests for Dementia: Difficult Choices
When scientists discovered that they could determine whether someone was carrying the gene for Huntington’s disease, they created the opportunity for people to know something about their future. Huntington’s disease is a genetic, fatal, degenerative disease that typically manifests itself in adults between 30 and 45 (Sharon, Ersan, & Sharon,
2007) . Dementia is part of the disease; other symptoms include uncontrollable, jerking movement of the limbs, torso, and face. Individuals who have one parent with the disease run a 50-50 chance of having it themselves and, if they have children, of passing it on to them.
The ability to determine in advance who would develop or escape the disease offers a difficult choice for potentially affected individuals and families, allowing them to plan more practically about having children, choosing jobs, obtaining insurance, organizing finances, and pursuing social and leisure interests. This difficult choice involves possibly learning that they have a fatal disease.
Deciding to undergo this kind of test is not easy. This is not due to the test, which involves a genetic analysis of blood samples taken from the person being tested and from six or so family members. The difficulty lies in the fact that a positive result on the test means a high probability of developing the disease, and, if one has children, a 50% chance of passing it to them. The test is 99% accurate.
For some young adults who are at risk for Huntington’s disease, taking the test removes the uncertainty in their lives (Duncan et al., 2007, 2008). People who took the test described both harms and benefits. The harms included knowledge of future illness, witnessing distress among and negative effects on family relationships and friendships, effects upon employment and school, experiencing regret, feeling guilty, and having to confront difficult issues (e. g., the inevitability of one’s own illness). The benefits included knowledge of gene-negative status, witnessing relief in parents and family members, feeling able to plan for the future, positive effects on family relationships and friendships, feeling empowered, and experiencing a sense of clarity about what is important in life.
Whether people decide to take predictive genetic tests is a personal issue that should be respected. In addition to the clinical information and options, supportive counseling before and after testing is a critical aspect that must be available. The Huntington’s Disease Program at the University of Virginia suggests that those thinking about taking the test and those close to them consider several questions (University of Virginia Huntington’s Disease Program,
• What does it mean for you to be at risk for HD?
• How has it affected your life and your plans for the future?
• Would this be different if you knew whether you are going to develop HD?
• How will it make you feel if you are told you have inherited the gene for HD?
• What will it mean for you if you have not inherited the gene for HD?
• How will the results of the test affect other members of your family?
• How have you coped with difficult times in the past?
• Have there been stressful or difficult times in your life?
• Are there people in your life who will help you cope?
• Who will you tell about your decision to have predictive testing?
• Who will accompany you when you receive the results of the test?
• Would you want some time off from work after you receive the results?
• Are you thinking about having children?
• Would you like more information about the options available for testing a pregnancy for HD?
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Certainly, Huntington’s disease and all other forms of dementia are terrible diseases. With research rapidly advancing, it is likely that tests for genetic markers of other diseases will be developed in future. It is also likely that a test will be available before there is a cure. If you had relatives who had died from Huntington’s disease, if you were planning to have a family, and if a test were available, what would you do? What ethical issues are raised by the availability of such tests?
Alzheimer’s disease, and they have developed a test to see whether people have the inheritance pattern (McQueen & Blacker, 2008; Steinbart et al.,
2001) . Although research shows no significant negative consequences to people when they know that they have the marker for Alzheimer’s disease (Marteau et al., 2005), difficult choices may remain. For example, individuals who know they have the genes responsible for the disease may be faced with difficult decisions about having children and how to live out their lives. Genetic counseling programs, which currently focus mostly on diseases of childhood, would need to be expanded to help individuals face decisions about diseases occurring later in life. Even if a specific gene is identified for each type of Alzheimer’s disease, many questions about the cause of Alzheimer’s disease will remain. Why does it take so long for the genetic defect to appear? What mechanism starts it? Why is there so much variation when it appears? Answers to these questions will help us understand how Alzheimer’s disease develops.
Tests can be developed to detect genes that transmit diseases. Such a test already exists for Huntington’s disease. As discussed in the Current Controversies feature, however, taking the test is not an easy decision, even when there is a high risk of passing the disease on to one’s children.
Intervention Strategies Alzheimer’s disease is incurable. However, much research has been done to find ways to alleviate the cognitive deficits and behavioral problems that characterize the disease.
Much of the recent research has focused on various drugs that could improve memory, although no medication currently available can reverse or cure dementia (Voisin et al., 2005). These drugs include a wide variety of compounds aimed at improving cerebral blood flow or levels of various neurotransmitters. Some drugs, such as tacrine (Cognex), donepezil (Aricept), galantamine (Razadyne), and rivastigmineta (Exelon) have been approved by the U. S. Food and Drug Administration (FDA) for the treatment of Alzheimer’s disease. All these drugs have been reported to improve cognitive functioning, although these successes often have been achieved with carefully selected patients on carefully selected tests, and none of the drugs has shown reliable improvements in a wide variety of patients (Mayo Clinic, 2007c). Still, they offer options for treating the cognitive impairments in mild to moderate Alzheimer’s disease.
Other medical interventions address some of the hypothesized causes. This work represents a different approach—attacking some of the hypothesized causes of Alzheimer’s disease rather than the symptoms. For example, researchers are experimenting with some drugs that address the acetylcholine declines and inhibit the formation of beta-amyloid plaques (Giacobini, 2003). Similarly, nonsteroidal anti-inflammatory drugs (NSAIDs, see Chapter 4) such as ibuprofen have been shown to reduce the risk of Alzheimer’s disease and slow disease progression, among other effects in animals (Yan et al.,
2003) . Drugs that treat the toxic effects of excess copper and zinc may be a promising new avenue for reducing the effects of beta-amyloid (Finefrock et al., 2003). Statins, the most commonly used cholesterol fighting drugs, significantly lower the levels of beta-amyloid in research on animals (Stuve et al.,
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2003). Giving agents to people so that they can produce antibodies to beta-amyloid significantly slows the rate of decline in cognitive functioning (Hock et al., 2003).
Another line of research is investigating the effects of memantine (Namenda), a medication that addresses increased levels of plasma homocysteine. Evidence from clinical trials research indicates that memantine is effective in treating mild to severe Alzheimer’s disease with few side effects (Bakchine & Loft, 2008). Such results provide hope that a new generation of medical interventions for Alzheimer’s disease is in the offing.
Improving behavioral problems manifested by people with Alzheimer’s disease is also possible (Howard et al., 2007). Donepezil is effective in reducing agitation, and drugs that are used primarily in younger patients to treat schizophrenia, such as thioridazine and haloperidol, are effective in alleviating the severe psychiatric symptoms that develop during the course of Alzheimer’s disease. Similarly, antidepressants are effective in alleviating the depressive symptoms that typically accompany the early stages of the disease, and sedatives may be effective for sleep disturbances. However, these medications should be used with caution, because dosage levels for older adults may be far lower than those for younger patients, and side effects may be much more serious.
Caring for Patients with Dementia at Home
Watching a loved one struggle with Alzheimer’s diesease can be both heartrending and uplifting for family members (O’Dell, 2007). Watching a spouse, parent, or sibling go from being an independent, mature adult to not remembering the names of family members is extremely difficult. But the unconditional love shown by family caregivers and the opportunity for family members to develop closer relationships can be quite positive. In this section, we consider some of the key issues regarding caregiving for persons with dementia; we consider caregiving more generally in Chapter 11.
Most people with dementia (as well as other impairments) are cared for by their family members at home (MetLife Mature Market Institute and National Alliance for Caregiving, 2006). Over 23 million households provide an average of 21 hours per week in unpaid care for relatives; this is estimated to be worth well over $300 billion annually. About 60% of caregivers are over age 50 and are working, mostly full time. Roughly 60% of caregivers are women, a number that has been declining due to greater participation of men in providing care for older relatives. Caregivers tend to be of moderate financial means, with many being poor.
One useful way to conceptualize family caregiving is as an unexpected career (Aneshensel et al.,
1995) . The caregiving career begins with the onset of the illness and moves through a number of separate steps. Note that the process does not end with the placement of the affected family member in a nursing home, or even with that person’s death. Rather, Aneshensel et al. (1995) point out that the career continues through the bereavement and social readjustment period, at which point one may continue with life. Note that the kind of caregiving changes, from the comprehensive caregiving, which covers all aspects of the process, to sustained caregiving in the home, to foreshortened caregiving in the nursing home, to withdrawal from caregiving.
Much research has documented that caregivers are at risk for depression (Eisdorfer et al., 2003). It is important that caregivers who show depressive symptoms receive appropriate treatment for it. One effective intervention is family therapy combined with an integrated computer-telephone system that allows family members who cannot physically attend therapy sessions to participate by phone (Eisdorfer et al., 2003). This intervention proved especially effective for Cuban Americans in the study.
Because the majority of people with dementia have Alzheimer’s disease, most of the research focuses on caregivers of these patients. However, the discussion in this chapter applies to caregivers of all patients with dementia. Let’s consider some behavioral intervention strategies that work.
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Effective Behavioral Strategies Many actions can be taken to improve the lives of people with dementia. Key steps to be taken once a diagnosis is made include obtaining accurate information about the disease, involving the patient as much as possible in decisions, identifying the primary caregiver, reassessing the patient’s living situation, setting realistic goals, making realistic financial plans, identifying a source of regular medical care, maximizing the patient’s opportunity to function at his or her optimal level, making realistic demands of the patient, and using outside services as needed. The goal of these early steps is to build a broad support network of relatives, medical personnel, and service providers that may be needed later. The new responsibilities of family members require changes in daily routines; people adjust to these roles at different rates.
When they find themselves caring for a person with Alzheimer’s disease, caregivers must rethink many behaviors and situations that they otherwise take for granted. Dressing, bathing, and grooming become more difficult or even aversive to the affected person. Use of Velcro fasteners, joining the person during a bath or shower, and other such changes may be necessary. Nutritional needs must be monitored, because people with dementia may forget they have just eaten or may forget to eat. Medications must be used with caution. Changes in personality and sexual behavior must be viewed as part of the disease. Sleeplessness can be addressed by establishing consistent bedtimes, giving warm milk or tryptophan before bedtime, and limiting caffeine intake. Wandering is especially troublesome because it is difficult to control; making sure that the affected person has an identification bracelet with the nature of the problem on it and making the house accident-proof are two preventive steps. In severe cases of wandering it may be necessary to use restraints under the direction of a health care professional. Incontinence, which usually occurs late in the disease, is a troubling and embarrassing issue for the person with dementia; use of special undergarments or medications to treat the problem are two options. Incontinence is not necessarily related to Alzheimer’s disease; for example, stress
The WanderGuard device on the woman’s wrist keeps people like her with dementia from wandering away and potentially getting lost or injured.
incontinence, which is fairly common among older women, is unrelated to dementia.
Many caregivers need to be taught how to accomplish these tasks. In general, interventions to assist caregivers rarely result in large effects, although such programs typically produce focused improvements in such things as psychological distress (Schulz et al., 2002). Burgio and colleagues (2003) showed that such skills training is effective for European American and African American caregivers, and reduces the number of problem behaviors the caregivers must face from care recipients. Similarly, European American and Latino caregivers both reported significant reductions in depressive symptoms, increased use of adaptive coping, and decreased use of negative coping strategies after training and practice in the use of specific cognitive and behavioral skills
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(Gallagher-Thompson et al., 2003). Additionally, home intervention strategies can result in caregivers having more time to themselves and a decrease in the amount of assistance they need from external sources (Nichols et al., 2008).
One of the most difficult issues caregivers face concerns taking things away from the affected person and restricting activity. For example, in many cases the person experiences problems handling finances. It is not uncommon for them to spend hundreds or even thousands of dollars on strange items, to leave the checkbook unbalanced and bills unpaid, and to lose money. Although they can be given some money to keep, someone else must handle the day-to-day accounts. That transition may be traumatic, and the caregiver may be accused of trying to steal money.
Traveling alone is another sticky issue. Families of people with dementia often do not recognize their loved one’s deteriorating condition until a calamity occurs during travel. Families should limit solo excursions to places within walking distance; all other trips should be made with at least one family member along. Related to this, driving is often a contentious issue, especially if the person does not recognize his or her limitations. Once it is clear that the patient cannot drive, the family must take whatever steps are necessary. In some cases this entails simply taking the car keys, but in others it becomes necessary to disable the car. Suggesting that the patient could be chauffeured is another alternative. In any case, caregivers may be subjected to various sorts of accusations related to these issues.
How can family members and health care professionals deal with the behavioral and cognitive problems experienced by people with Alzheimer’s disease? One successful approach for dealing with difficult behavior is a technique called differential reinforcement of incompatible behavior (DRI) (Burgio et al., 1995; Fisher et al., 2008). In DRI, caregivers reduce the incidence of difficult behavior by rewarding the person with Alzheimer’s disease for engaging in appropriate behaviors that cannot be done at the same time as the problem behaviors. For example, a person who throws food during dinner could be rewarded for sitting quietly and eating.
One major advantage of DRI for caregivers is that the technique can be used in the home, and provides a good way to deal with troublesome behaviors (Fisher et al., 2008). Most important, the DRI technique is easily learned, has no side effects, and can be as effective as or more effective than medical treatments (Burgio, 1996).
Numerous effective behavioral and educational interventions have also been developed to address the memory problems in early and middle-stage dementia. One behavioral intervention involves using an implicit-internal memory intervention called spaced retrieval. Adapted by Camp and colleagues (Camp, 2001), spaced retrieval involves teaching persons with Alzheimer’s disease to remember new information by gradually increasing the time between retrieval attempts. This easy, almost magical technique has been used to teach names of staff members and other information; it holds considerable potential for broad application. Research shows that combining spaced retrieval with additional memory encoding aids helps even more (Kinsella et al., 2007).
In designing interventions for persons with Alzheimer’s disease, the guiding principle should be optimizing the person’s functioning. Regardless of the level of impairment, attempts should be made to help the person cope as well as possible with the symptoms. The key is helping all persons maintain their dignity as human beings. This can be achieved in some very creative ways, such as adapting the principles of Montessori methods of education to bring older adults with Alzheimer’s disease together with preschool children so that they can perform tasks together (Camp et al., 1997; Malone & Camp,
2007) . One example of this approach is discussed in the How Do We Know? feature.
Taking care of a person with dementia is usually very stressful for families. As you can imagine, family members who are caring for a parent with dementia while also holding down a job and raising children puts incredible demands on time. Two options available to provide some relief for caregivers are respite care and adult day care.
Respite care is designed to allow family members to get away from the caregiving situation for a time. It
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