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.

Tratamiento de lesiones relacionadas con la dependencia en paciente con enfermedad degenerativa demencial con dependencia severa / Treatment of dependence-related lesions in a patient with dementia degenerative disease with severe dependence

El éxito de los resultados en la gestión avanzada de heridas depende de su correcta valoración. Objetivo: El objetivo de este caso clínico es presentar los resultados del tratamiento de una lesión relacionada con la dependencia combinada o mixta: úlcera por presión de categoría III como complicación de una lesión asociada a la humedad de grado 2A en zona sacra en una paciente con dependencia severa debido a enfermedad degenerativa demencial. Metodología: Gestión avanzada de heridas con apósitos especializados y cuidados de enfermería específicos; este caso cumple con los aspectos éticos de recogida de datos y autorización de familiar a cargo. Resultados: Cicatrización de las lesiones. Conclusiones: La correcta valoración permite proporcionar cuidados específicos y oportunos, con resultados favorables

The good results in wound scar depends on the correct classification. Objective: the objective of this clinical case is to present the results of the treatment of injury related to combined or mixed dependence: pressure ulcer category III as a complication of a lesion associated with grade 2A humidity in the sacral area in a patient with severe dependence due to disease Degenerative dementia. Methodology: Advanced wound management with specialized dressings and specific nursing care; this case complies with the ethical aspects of data collection and authorization of dependent family member. Results: Wound healing. Conclusions: The correct valuation allows the delivery of specific and timely care, with favorable results

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.

Diseño de una escala de medida del grado de convivencia en pacientes con un proceso crónico / Design of a measuring scale to evaluate the degree of living wth a chronic illnes, such as Parkinson´disease

INTRODUCCIÓN. Conocer cómo los pacientes conviven con un proceso crónico es necesario para proporcionar un cuidado individualizado e integral. En la actualidad, no existe ninguna escala validada que evalúe la convivencia con un proceso crónico, como es la enfermedad de Parkinson. OBJETIVOS. Los objetivos fueron: 1) definir el concepto Convivencia con un proceso crónico; 2) diseñar una escala de medición del grado de convivencia en pacientes con un proceso crónico, y en concreto, con la enfermedad de Parkinson. METODOLOGÍA. Se llevaron a cabo dos pasos metodológicos. Respecto al primero, se realizó un análisis del concepto Convivencia con un proceso crónico, a través del método evolutivo de Rodgers. El segundo paso metodológico fue el diseño de la escala, a través de la guía propuesta por DeVellis. RESULTADOS. A través del análisis de concepto se identificó que la Convivencia con un proceso crónico es un proceso complejo, dinámico, cíclico y multidimensional compuesto por los atributos de Aceptación, Afrontamiento, Automanejo, Integración y Adaptación. En cuanto a los resultados del diseño de la escala, se desarrolló una medida autocumplimentada, con cinco opciones de respuesta, tipo Likert y 27 ítems. CONCLUSIONES. La escala diseñada, es una medida innovadora y de interés potencial clínico que permite identificar qué factor o factores hacen que la persona conviva mejor o peor con la enfermedad y, consecuentemente, intervenir de manera integral, acorde con las necesidades individuales de cada persona (AU)

INTRODUCTION. Understanding how a person lives with a chronic illness is necessary to provide care according to the individual’s needs. Nowadays, there is no validated scale to measure how the person is living with a chronic condition, such as Parkinson’s disease. OBJECTIVES. The objectives were to: 1) define the concept of Living with a chronic illness; 2) design a measuring scale of the degree of Living with a chronic illness, in particular with Parkinson’s disease. METHODOLOGY. Two methodological steps were carried out. Regarding the first methodological step, a concept analysis of Living with a chronic illness was done using Rodgers’ evolutionary method. The second methodological step was the design of the scale, following DeVellis guideline. RESULTS. Through the concept analysis it was identified that Living with a chronic illness is a complex, dynamic, cyclic and multidimensional process, involving the attributes of Acceptance, Coping, Self-management, Integration and Adjustment. In relation to the design of the scale, it was developed a self-reported measure, with five Likert response options and 27 items. CONCLUSIONS. The designed scale, is an innovative measure with a high potential interest in clinical community to identify with are the factor(s) that make the person have a positive or negative living with the disease. Consequently, nurses could intervene in a holistic way, according to the patient individual needs (AU)

[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.

Atención enfermera a pacientes con enfermedades neurodegenerativas en fase avanzada / Nursing care of patients with advanced stage neurodegenerative diseases

Objetivos: describir el perfil de los pacientes con enfermedades neurodegenerativas (END) en fase avanzada en un equipo de atención domiciliaria.Analizar los principales problemas de salud y conocer el lugar de éxitus.Material y métodos: estudio descriptivo transversal de enfermos atendidos en un Equipo de Soporte de Atención Domiciliaria (ESAD) del Área 5 de Madrid, en el período de 2001 a 2008. Se analizó: edad, sexo, diagnóstico de enfermedad neurológica, procedencia de la derivación, días de seguimiento, número de visitas, aspectos sociales, índice de Barthel,número de fármacos, problemas detectados y lugar de éxitus.Resultados: se evaluaron un total de 2.738 pacientes. 25 (0,91%) fueron incluidos por presentar una END en fase avanzada. La edad media erade 62,2 años, un 60% eran mujeres. Un 64% estaba diagnosticado de esclerosis lateral amiotrófica. El seguimiento se estimó en 98,2 días por paciente con una media de 8,7 visitas. Tenían un índice de Barthel en primera visita de 22,4, siendo el cónyuge el cuidador principal. Al finalizar el estudio, 22 pacientes habían fallecido, siendo el domicilio el lugar de preferencia para el éxitus (72,7%). Los problemas más frecuentes durante el seguimiento fueron disfagia (92%) y disnea (76%).Conclusiones: el perfil del paciente con END es el de una mujer de mediana edad con deterioro funcional severo cuyo cuidador principal es el cónyuge.Los principales problemas detectados fueron disfagia y disnea. Aproximadamente,tres de cada cuatro pacientes fallecieron en el domicilio (AU)

Objectives: to describe the profile of patients with advanced stage neuro -degenerative diseases in a home care team. To analyse the primary health problems and to determine the place of death.Material and methods: cross-sectional descriptive study of patients seen in a Home Care Support Team (HCST) of Area 5 of Madrid, in thetime period between 2001 and 2008. The following variables were analysed: age, sex, diagnosis of neurological disease, origin of the referral,follow-up days, number of visits, social aspects, Barthel’s index,number of drugs, detected problems and place of death.Results: a total of 2.738 patients were evaluated. 25 (0,91%) were included for presenting an advanced NDD. Mean age was 62,2% years,and 60% were women. 64% were diagnosed with amyotrophic lateral sclerosis.The follow-up was estimated to be 98,2 days per patient with amean of 8,7 visits. On the first visit patients’ Barthel index was 22,4, thespouse being the primary caregiver. By the end of the study, 22 patients had died, the home being the place of preference for exitus (72,7%). Themost frequent problems during follow-up were dysphagia (92%) and dyspnoea (76%).Conclusions: the profile of the patient with NDD is a middle-aged woman with severe functional deterioration whose main caregiver is her spouse.The main problems detected were dysphagia and dyspnoea. Approximately three of every four patients passed away in their home (AU)

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.