Genetic testing There is a growing amount of knowledge about the relationship between genetics and dementia. However, genetic testing is infrequently used in the clinical evaluation of cognitive changes due to the lack of preclinical therapeutic interventions. Much of the knowledge involves the genetics of Alzheimer’s disease. Theε4 allele of theAPOEgene on chromosome 19 has been linked to an increased risk of developing Alzheimer’s dsease.19,20At present, this test has more research than clinical value since its results imply risk rather than diagnosis of the disease. The genes APP,PSEN1, andPSEN2have been linked to a form of early onset Alzheimer’s disease. Although rare—comprising less than 1% of all Alzheimer’s disease cases21,22—testing for these genes may have some relevance in cases of hereditary early onset dementia. However, inherent in genetic testing are the ramifications for family members which should be discussed with the patient prior to any genetic test—and the family should ideally be involved in the discussion.
Consultations Specialist consultations are sometimes needed in the evaluation of brain dysfunc- tion. In addition to neuropsychology, these consultations may include psychiatry, sleep medicine, geriatrics or a cognitive and dementia subspecialty neurologist. A psychiatric specialist may assess whether emotional or psychological disorders are interfering with the mental abilities (see chapter 24.).
A visit to the patient’s home can provide a picture of their functional abilities. As this is not often practical, simulation is being investigated as a tool to evaluate patients in complex situations, including driving.18
attempts to dispense some of the shock at the get-go. The provider then clearly reviews the diagnosis and its implications as specifically as possible in lay terms.
The provider can present key information in sections such as diagnosis, prognosis, and treatment options, pausing to summarize and answer questions. The provider must ensure that the informa- tion is discussed and understood. Explicitly asking patients to repeat in their own words what they understand can reveal misunderstandings. Family members can also be queried on their under- standing of the discussion as appropriate. The patient should also be encouraged to say how this information has made them feel. There are stories of patients receiving bad news from a doctor who pours out medical jargon on a diagnosis or prognosis and leaves. This may not be what actually happened, but the patient may have perceived it that way. By halting the discussion to allow patients to ask questions and review what they understand, the patients will hopefully comprehend their situation better and feel they have received the full amount of time and attention they deserve.
Discussing the plan
Once the diagnosis has been discussed, it is imperative to review treatment and management options. The review may be in general terms or specific to the individual depending on the sce- nario. The types of available pharmacologic therapies depend on the specific condition and patient, such as acetylcholinesterase inhibitors for MCI and Alzheimer’s disease. A discussion of the pharmacologic treatment of mental or cognitive impairment is beyond the scope of this chapter, but it can be found in part V of this volume.
Many patients come to the discussion with some awareness of the available medications thanks to advertisements and the internet. For many conditions, there are no pharmacologic treatment options, but the discussion should include lifestyle modifications, risk factor or complication mitigation, and other nonpharmacologic proactive interventions. The provider should be prepared for patients or families to inquire about dietary restrictions or natural supplements. A discussion of the importance of staying physically active to whatever degree is safe may be helpful. The families will often want to know what kind of activities or mental exercises can be helpful. Chapter 29 discusses the benefit of physical activity in the setting of illness.
The provider must be aware of what can and cannot be helpful, as well as any unproven or even detrimental nonpharmacologic interventions that are being reported. While it is obvious that the provider should discuss their recommended plan, it is also important to discuss where this recommendation is in the context of standard medical care. Are there other options, or are there differing opinions about the particular treatment? If so, then what is the evidence or rationale that supports the opinion? For conditions in which there are established treatments, it is the provider’s obligation to mention the expected outcome without treatment as well as the potential complications of the treatment itself.
Follow-up
The patient and provider will meet periodically to assess the status of the condition. The frequency of these follow-up appointments depends on the specific diagnosis and treatment plan. At each visit, the provider and patient decide if things are going as expected. If they are not, then the follow-up schedule may be altered. If things are far off course, then the provider may reassess the diagnosis or treatment plan and discuss topics with the patient. Since many conditions that progressively alter one’s mental status are chronic, these follow-up visits may continue to occur throughout the life of the patient. One of the goals of these visits is to watch for any complications or address changes as the condition progresses. In other cases where the condition is curable, the follow-up visits may be suspended once the patient has achieved this level. However, the patient and their loved ones must be advised to contact their provider if symptoms reoccur.
126 T. Scott Diesing and Matthew Rizzo
Monitoring the aging mind and brain outside of the clinic Many patients facing the challenge of cognitive decline may not have the insight to recognize when reevaluation is necessary. Often, family members serve this role and monitor the patient’s function indirectly through observation—or directly with testing. Mobile electronic devices and applications are becoming increasingly used by the aging population to monitor their cognitive status. Remote interactive testing by means of an electronic device is not new,23but mobile devices are becoming increasingly intertwined in the evaluation and monitoring of the aging mind. While most of these have not been clinically validated, they may serve as a way for the patient and family to monitor the patient’s cog- nitive function. Additionally, many of the commercially available applications involve problem- solving games, puzzles, and memory tests which can provide a form of cognitive exercise to help stimulate the aging mind and brain. In addition to mobile or computer-based programs, real-world challenges can be monitored and direct the frequency of clinical follow-up. Family members or loved ones may periodically ride in the car with the patient, or the patient may be assessed in a driving simulator on a scheduled basis. Further reading on tracking the brain in the wild can be found in Chapter 11.
The electronic medical record The modern electronic medical record (EMR) can drive the way patients and providers interact. The rise of the EMR has allowed quick access to patient data. It allows sharing of information and better communication among providers. It allows patients to communicate with providers via secure messaging and provides online access by patients to their own medical records. Showing patients their own MRI images through the EMR can help patients understand their brain injury better. The EMR can be a distraction when the provider is reviewing or entering data into the EMR during the history and physical. The provider must learn to balance attention between the patient and the EMR while keeping the patient as the priority.
Competency and decision-making When an evaluation uncovers evidence that a patient may not be of sound mind, it is crucial to establish whether the patient is competent. The study may find that the patient is not able to make his or her own decisions. The patient must be informed as soon as possible. It is helpful if the family member or patient representative is present at this meeting. In situations of incompetency, a power of attorney (POA) or guardian is appointed as the decision-maker.
The process of determining competency and what it means to be competent is addressed in chapter 34. The clinician has the responsibility of informing the POA or guardian just as they would the patient. The clinician must have legal documentation confirming the decision-maker status before discussing things with them. Situations often arise where the clinician and decision-maker must work closely together to decide how best to care for the patient. All reason- able measures must be taken in order to foster agreement between the patient and decision-maker.
Care and the caregiver Any provider that has cared for patients with a chronic illness knows that the patient is not the only one that needs help. The lives of the caregivers and loved ones may be significantly affected by the time and emotional effort given to the assistance of the patient.
Caregiver burnout has a very real and detrimental affect toward the patient. Further discussion can be found in chapter 31.
Conclusion
In conclusion, the comprehensive evaluation of the aging patient presenting with complaints of abnormal or altered functioning of the brain necessitates several crucial steps. First, a thorough history must be obtained by interviewing the patient and his or her loved ones. Second, the medical provider examines the patient physically and cognitively. Third, additional testing that may include imaging, laboratory studies or subspecialty evaluations may be obtained. Lastly, the medical 127 Medical Assessment of the Aging Mind and Brain
provider analyzes these three sources of data to formulate a working hypothesis or differential diagnosis. The medical provider then has a responsibility to clearly and accurately communicate the diagnosis to the patient and manage it to the best of their ability. Though the initial evaluation may then be complete, the situation is reevaluated periodically and may be revised depending on how the patient fares over time.
Key Readings
Gilman, S., Manter, J. T., Gatz, A. J., & Newman, S. W.Manter and Gatz’s essentials of clinical neuroanatomy and neurophysiology. (Philadelphia: F.A. Davis, 2003).
Mayo Clinic examinations in neurology. (St. Louis: Mosby, 1998).
Rowland, L. P., & Merritt, H. H.Merritt’s neurology. (Philadelphia: Lippincott Williams & Wilkins, 2000).
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7
Neuropsychological Assessment of Aging Individuals
R. D. Jones
Key Points
• Neuropsychological assessment is used to guide key aspects in the care of older patients, for example to determine if a patient is capable of making informed decisions, is able to manage their medical needs, is safe to drive, or needs supervised care.
• Domains that commonly are measured in neuropsychological assessment include intellectual functions, verbal and visual memory, language, visual perception, executive functions, mood, and personality.
• Assessment typically involves a core set of standardized tests, followed by customized assess- ment based upon the patient’s known medical condition, presenting complaints, questions posed by the referral source, and findings from the core battery.