Genetics of neurodegenerative diseases for the advanced practice provider.

Neurodegenerative diseases are more common in older individuals and are progressively debilitating. Due to the aging of the American population, the burden of neurodegenerative diseases on the health care infrastructure will likely significantly increase in the near future. Genetic science has advanced our understanding of the pathology driving these diseases thereby informing new, individualized care paradigms. Although translation into clinical practice is slow, there are a few examples of instances where precision medicine is making a difference in the care of patients with neurodegenerative diseases that may be driven by genetic background. This article provides a brief overview of the current knowledge of genetic influences on two common neurodegenerative diseases, Alzheimer Disease and Parkinson Disease, as well as ways this knowledge is being tested for a precision medicine approach to care.

Best interest versus advance decisions to refuse treatment in advance care planning for neurodegenerative illness.

This article describes the role of nurses assisting people with degenerative illness in advance care planning (ACP) for a time when they may lose decision-making capacity. It looks at the concept of advance decisions to refuse treatment (ADRT), as defined in the Mental Capacity Act 2005 , exploring the legal, ethical and philosophical ramifications of carrying out, or overriding, formerly expressed wishes of someone who has subsequently lost decision-making capacity. It uses an illustrative composite case study of an individual with Huntington's disease whose prognosis includes future deterioration in swallowing, together with consideration of whether to have or refuse a percutaneous endoscopic gastrostomy. The author, who as part of his role cares for people with neurodegenerative conditions, including Huntington's disease, discusses the difficulties and dilemmas that nurses experience with ADRTs, drawing on personal experience. He suggests that, rather than focusing on ADRTs, ACP may be most effective in preparing people and their surrogates to make real-time decisions, based on a shared understanding of the individual's values.

Evaluating the Utility of a Structured Clinical Protocol for Reducing the Impact of Behavioural and Psychological Symptoms of Dementia in Progressive Neurological Diseases: A Pilot Study.

OBJECTIVES: Behavioural and psychological symptoms of dementia (BPSD) cause significant distress to both aged care residents and staff. Despite the high prevalence of BPSD in progressive neurological diseases (PNDs) such as multiple sclerosis, Huntington's disease, and Parkinson's disease, the utility of a structured clinical protocol for reducing BPSD has not been systematically evaluated in PND populations. METHOD: Staff (n = 51) and individuals with a diagnosis of PND (n = 13) were recruited into the study, which aimed to evaluate the efficacy of a PND-specific structured clinical protocol for reducing the impact of BPSD in residential aged care (RAC) and specialist disability accommodation (SDA) facilities. Staff were trained in the clinical protocol through face-to-face workshops, which were followed by 9 weeks of intensive clinical supervision to a subset of staff ("behaviour champions"). Staff and resident outcome measures were administered preintervention and immediately following the intervention. The primary outcome was frequency and severity of BPSD, measured using the Neuropsychiatric Inventory-Nursing Home Version (NPI-NH). The secondary outcome was staff coping assessed using the Strain in Dementia Care Scale (SDCS). RESULTS: In SDA, significant reductions in staff ratings of job-related stress were observed alongside a statistically significant decrease in BPSD from T1 to T2. In RAC, there was no significant time effect for BPSD or staff coping; however, a medium effect size was observed for staff job stress. CONCLUSIONS: Staff training and clinical support in the use of a structured clinical protocol for managing BPSD were linked to reductions in staff job stress, which may in turn increase staff capacity to identify indicators of resident distress and respond accordingly. Site variation in outcomes may relate to organisational and workforce-level barriers that may be unique to the RAC context and should be systematically addressed in future RCT studies of larger PND samples.

The social and economic burden of frontotemporal degeneration.

OBJECTIVE: To quantify the socioeconomic burden of frontotemporal degeneration (FTD) compared to previously published data for Alzheimer disease (AD). METHODS: A 250-item internet survey was administered to primary caregivers of patients with behavioral-variant FTD (bvFTD), primary progressive aphasia, FTD with motor neuron disease, corticobasal syndrome, or progressive supranuclear palsy. The survey included validated scales for disease staging, behavior, activities of daily living, caregiver burden, and health economics, as well as investigator-designed questions to capture patient and caregiver experience with FTD. RESULTS: The entire survey was completed by 674 of 956 respondents (70.5%). Direct costs (2016 US dollars) equaled $47,916 and indirect costs $71,737, for a total annual per-patient cost of $119,654, nearly 2 times higher than reported costs for AD. Patients ≥65 years of age, with later stages of disease, and with bvFTD correlated with higher direct costs, while patients <65 years of age and men were associated with higher indirect costs. An FTD diagnosis produced a mean decrease in household income from $75,000 to $99,000 12 months before diagnosis to $50,000 to $59,999 12 months after diagnosis, resulting from lost days of work and early departure from the workforce. CONCLUSIONS: The economic burden of FTD is substantial. Counting productivity-related costs, per-patient costs for FTD appear to be greater than per-patient costs reported for AD. There is a need for biomarkers for accurate and timely diagnosis, effective treatments, and services to reduce this socioeconomic burden.

Palliative care nursing for patients with neurological diseases: what makes the difference?

Neurodegenerative diseases progress slowly, creating increasing physical disability with unpredictable disease trajectories. The disease's life-threatening nature often places these patients in palliative care. There are several factors that complicate the care of patients with neurodegenerative diseases in palliative care units. Owing to physical impairments, there are many communication barriers between patients and staff. Nurses are not able to duplicate the patient's meticulous daily routine leading to caregiver mistrust in the nurse's competencies. Even if the patient is hospitalised, caregivers may not take the much-needed time off to recuperate. The placement of patients with neurodegenerative diseases in palliative care is confusing, since they rarely die during in-hospital treatment but might even get better due to multidisciplinary treatment. Finally, patients and caregivers lack adequate knowledge about disease progression and available help and support programmes. Patients with neurodegenerative diseases urgently need palliative care and nurses and caregivers need better preparation to appropriately deal with these diseases.

[The nursing consultation in a CMRR]. / La consultation infirmière en CMRR.

Resource and research memory centres (CMRRs) cater for patients with a cognitive disorder, usually with memory loss. Their aim is to establish if there is an underlying neurodegenerative pathology, Alzheimer's disease or related syndrome.

[General practitioners and neurodegenerative diseases]. / Généraliste et pathologie neurodégénérative.

Cognitive disorders with memory loss are common among the patients of general practitioners. In collaboration with an outpatient diagnosis service and referral memory consultations, they are involved in the diagnosis, the implementation and the follow-up of suitable care for the patient and their family.

[Mutuality in caregiving: a literature review]. / La mutualità nel caregiving: una revisione della letteratura.

INTRODUCTION: Mutuality, understood as a feeling of intimacy and positive relationship between caregiver and care receiver, is gaining an increasing interest in the scientific arena in the light of socio-demographic change and the increase in chronic degenerative diseases. The purpose of this article is to carry out a critical analysis of the literature on mutuality in order to identify predictors and outcomes. METHOD: A literature search was carried out the databases PubMed, CINAHL, PsycInfo, and ASSIA Sociological. Twenty (20) articles were selected. By analyzing critically all articles, emerges that mutuality is a key variable in the process of care giving and in mental and physical health of both caregiver and care-receiver. In the caregiver, high levels of mutuality are associated with less stress, depression and burden to a better quality of life and self perceived health; in patients high mutuality is able to speed up the recovery from the disease, to reduce anxiety and depression and to improve the quality of life. CONCLUSION: Future studies aimed at the study of this variable also in the Italian population could be of support in developing programs to improve quality of life of caregivers and care receiver.

Safeguarding vulnerable adults.

This article explores some of the issues surrounding safeguarding vulnerable adults, examines some of the related legislation and literature, and outlines the responsibilities of those who care for this patient group. The article describes how one hospital that specialises in caring for people with early-onset dementia, Huntingdon's disease and alcohol-related brain injury who require additional support, has provided staff with appropriate evidence-based information about safeguarding adults.

Caregivers of people with neurodegenerative diseases: profile and unmet needs from a population-based survey in South Australia.

INTRODUCTION: Neurodegenerative diseases (NDD) are characterized by progressive decline and loss of function, requiring considerable third-party care. NDD carers report low quality of life and high caregiver burden. Despite this, little information is available about the unmet needs of NDD caregivers. METHODS: Data from a cross-sectional, whole of population study conducted in South Australia were analyzed to determine the profile and unmet care needs of people who identify as having provided care for a person who died an expected death from NDDs including motor neurone disease and multiple sclerosis. Bivariate analyses using chi(2) were complemented with a regression analysis. RESULTS: Two hundred and thirty respondents had a person close to them die from an NDD in the 5 years before responding. NDD caregivers were more likely to have provided care for more than 2 years and were more able to move on after the death than caregivers of people with other disorders such as cancer. The NDD caregivers accessed palliative care services at the same rate as other caregivers at the end of life, however people with an NDD were almost twice as likely to die in the community (odds ratio [OR] 1.97; 95% confidence interval [CI] 1.30 to 3.01) controlling for relevant caregiver factors. NDD caregivers reported significantly more unmet needs in emotional, spiritual, and bereavement support. CONCLUSION: This study is the first step in better understanding across the whole population the consequences of an expected death from an NDD. Assessments need to occur while in the role of caregiver and in the subsequent bereavement phase.

Maternal coping and adaptation: A case study examination of chronic sorrow in caring for an adolescent with a progressive neurodegenerative disease.

A single case study approach was used to examine the maternal experience of chronic sorrow in caring for an adolescent with a progressive neurodegenerative condition. A family systems model was used to examine maternal coping and adaptation. A diagnosis of a childhood neurodegenerative illness will inevitably result in periods of deterioration, increased physical, financial and health care needs. These periods of increased demands result in a build-up of stressors over time. During these different transitions, maternal coping and adaptation have been recognized as important components that affect the health and well-being of the whole family. McCubbin and Patterson's (1983) Double ABCX model of Adjustment and Adaptation was used to explore ongoing maternal coping and adaptation. By using a strengths-based approach, an advanced practice nurse (APN) was able to validate the maternal experience of chronic sorrow and identify factors influencing maternal coping and adaptation. Despite the emotional response of feeling hopeless and helpless, this mother was able to recognize and talk about her strengths and how they have contributed to the health and well-being of the whole family.

Palliative care needs of patients with neurologic or neurosurgical conditions.

BACKGROUND AND PURPOSE: Many patients with non-cancer diagnoses utilize palliative services. There is little data on the palliative care needs of patients with neurologic and neurosurgical disorders. METHODS: Retrospective chart review. Log sheets which contain all patients seen between January 2004 and 2007 by palliative medicine (PM) were reviewed. Patients with neurologic or neurosurgical disorders were identified and their in-patient charts and electronic records reviewed. Patients with cancer were excluded. RESULTS: A total of 1429 cancer patients were seen by PM. Neurologic or neurosurgical diseases were the second most common in patients seen by the PM service, in 177 cases. Forty-seven patients were excluded. Complete data was collected on 129 patients. Mean age was 70. Seventy-one (55%) were female. The most common neurologic diagnosis was ischemic stroke in 33 (26%). Seventy-five (58%) had symptoms recorded. Reasons for PM consultation included 'comfort measures' in 40 (39%) and 'hospice candidacy' in 38 (37%). The most common recommendation made by the PM service was morphine in 44 (42%). Sixty-three (49%) were deemed hospice appropriate. CONCLUSIONS: Our findings support the need for PM services for patients with various neurologic and neurosurgical disorders. Understanding these needs will allow for the tailoring of palliative care services to such patients.

Caring for others: Internet video-conferencing group intervention for family caregivers of older adults with neurodegenerative disease.

PURPOSE: The aim of this pilot feasibility study was to evaluate the effects of an innovative, Internet-based psychosocial intervention for family caregivers of older adults with neurodegenerative disease. DESIGN AND METHODS: After receiving signed informed consent from each participant, we randomly assigned 66 caregivers to an Internet-based intervention or to a no-intervention control group. The intervention group received computers and training in order to access a password-protected Web site with links to information, e-mail, and threaded discussion. Unique to the Web site was a video-conferencing link that supported caregivers' participation in a 10-session, manual-guided psychosocial support group, followed by 12 additional online sessions facilitated by a group member. Participants completed health-status and stress-response measures at baseline and 6-month follow-up. RESULTS: Content analysis of archived video sessions showed (a) reliable adherence to the manual-guided support-group intervention and (b) online group discussion themes similar to those in face-to-face caregiver support groups. Analyses of stress-response outcome data showed significant between-group differences, with the intervention group experiencing a decline in stress compared with an escalation in stress for the control group. IMPLICATIONS: Despite the limitations of this pilot study in terms of limited sample size and 54% dropout of control participants at 6-month follow-up, the results provide preliminary supportive evidence for a technology-based psychosocial intervention for family caregivers of individuals with neurodegenerative disease.

Working with complex care patients.

The following article provides the authors' definition of complex care patients. It is based on what they have learned about these special patients from the literature and from their personal clinical experiences. When I received this article for review, I decided to do a literature search on the term complex care patient and had a difficult time finding relevant articles. I asked a wonderful librarian from the Boston Children's Hospital, Alison Clapp, to help me with the search, and she had to maneuver through a maze of clinical subheadings. She described the search as "a difficult one." It is ironic that the search for information pertaining to these patients mirrors the complexity of care that they require from us. Are complex care patients the same as complex patients? The insertion of the word care may make a difference: You decide. There are complex patients who challenge us technically and intellectually, and then there are those who require even more from us--they challenge us technically, intellectually, physically, emotionally, and spiritually. The term complex care patient encompasses all these care dimensions. I think it is an excellent choice of words to make us consider what we are increasingly expected to do--and how we cannot do it alone.--Maura MacPhee, RN, PhD, Clinical Practice Column Editor.

Strategies used by families to navigate uncharted territory when a child is dying.

The eight families in this grounded theory study moved through a process of navigating uncharted territory as they lived with a child who was dying from a neurodegenerative, life-threatening illness. The process was characterized by four dimensions: entering unfamiliar territory, shifting priorities, creating meaning, and holding the fort. Within these dimensions, parents used strategies such as seeking and sharing information; going into slow motion and focusing on the child; taking one day at a time and reframing the experience; and living by the clock and promoting the child's health, to manage the physical, cognitive, and emotional work arising from the situation. The focus of this paper is on the strategies that families used. Suggestions for practice and research are offered to assist health care professionals in providing optimal care to these families.

Navigating uncharted territory: experiences of families when a child is dying.

In this grounded theory study, eight families moved through a process of navigating uncharted territory as they lived with their child who was dying from a neurodegenerative illness. The emotions of fear, uncertainty, and grief gave impetus to the process. Families lived much of their lives on plateaus of relative stability, where they often felt alone and isolated from health care professionals. Periods of instability led to families dropping off the plateau. Living with a dying child had profound physical, emotional, and financial effects on families. The process was characterized by four dimensions. Parents used strategies within these dimensions to manage the physical, cognitive, and emotional work arising from the situation. These dimensions and strategies were constrained and facilitated by four intervening conditions. In addition, the process occurred within the broader context of the acute, curative health care system and the sociocultural environment. Suggestions for practice and research are offered to assist health care professionals in providing optimal care to these families.

[Care and problems in intractable neurological diseases--home care of intractable diseases from the view of a practicing physician].

Taking into account how to care patients at home with intractable neurological disease and their family, I have introduced the achievement of the medical caring technique by an aged family member, the risks of the PEG and acute respiratory failures under BiPAP, the problems in home rehabilitation, and the experiences of home terminal care, from the view point of a practicing physician. Home caring pursues to support patients and their family to live peacefully with disease with highest quality of life. Hospice caring is also an important issue. From now on, I would like to try to give even better home care by early recognition of problems and by cooperating with hospitals, clinics and other field workers.