Adult-onset Huntington disease: An update.

Appropriate nursing-care strategies depend on the early recognition of Huntington disease (HD) to prioritize a plan of care. This article offers perspective on the clinical presentation, prognosis, diagnosis, and management of adult-onset HD.

Young People Living at Risk of Huntington's Disease: The Lived Experience.

BACKGROUND: For young people in families with Huntington's disease (HD) the challenge of having an affected family member (AFM) compounds challenges related to being at risk of HD themselves. OBJECTIVE: This study aimed to quantitatively examine the experiences of young people in families with HD, adding to existing qualitative studies regarding teenagers and young adults in families with HD. METHODS: The experiences of young people with living in a family with HD were captured by an online anonymous questionnaire, available worldwide through the Huntington's Disease Youth Organization. The questionnaire contained mostly forced choice questions. RESULTS: Most participants (n = 84/101, 83.2%) provide assistance to an AFM and 46.4% (n = 39/84) wish they didn't have to look after their AFM. Many participants (n = 64/78, 82.1%) reported feeling anxious about being at risk; 64.9% (n = 50/77) agreed it is a barrier in their life. Over one third (n = 29/76, 38.2%) of participants disagreed that they have support in relation to being at risk, despite 85.5% (n = 65/76) agreeing it is important to have support and ongoing follow up. CONCLUSIONS: Young people in families with HD endure considerable emotional, social and practical burden secondary to having an AFM and being at risk themselves. Without increased support and services, the effects of being a young caregiver and living at risk are likely to have long term impacts on the well-being of these young people.

Characterisation of aggression in Huntington's disease: rates, types and antecedents in an inpatient rehabilitation setting.

AIMS AND OBJECTIVES: To systematically review aggression in an inpatient Huntington's cohort examining rates, types and antecedents. BACKGROUND: Although the prevalence of aggression in Huntington's disease is high, research into this problematic behaviour has been limited. Few studies have investigated the nature of aggressive behaviour in Huntington's disease or antecedents that contribute to its occurrence. DESIGN: A systematic, double-coded, electronic medical file audit. METHODS: The electronic hospital medical records of 10 people with Huntington's disease admitted to a brain disorders unit were audited for a 90-day period using the Overt Aggression Scale-Modified for Neurorehabilitation framework, yielding 900 days of clinical data. RESULTS: Nine of 10 clients exhibited aggression during the audit period. Both verbal (37·1%) aggression and physical aggression were common (33·8%), along with episodes of mixed verbal and physical aggression (15·2%), while aggression to objects/furniture was less prevalent (5·5%). The most common antecedent was physical guidance with personal care, far exceeding any other documented antecedents, and acting as the most common trigger for four of the nine clients who exhibited aggression. For the remaining five clients, there was intraindividual heterogeneity in susceptibility to specific antecedents. CONCLUSION: In Huntington's sufferers at mid- to late stages following disease onset, particular care should be made with personal care assistance due to the propensity for these procedures to elicit an episode of aggression. However, given the degree of intraindividual heterogeneity in susceptibility to specific antecedents observed in the present study, individualised behaviour support plans and sensory modulation interventions may be the most useful in identifying triggers and managing aggressive episodes. RELEVANCE TO CLINICAL PRACTICE: Rates of aggression in Huntington's disease inpatients can be high. Knowledge of potential triggers, such as personal care, is important for nursing and care staff, so that attempts can be made to minimise distress for patients and maximise the personal safety of care staff.

Caregiving Youth Knowledge and Perceptions of Parental End-of-Life Wishes in Huntington's Disease.

Knowledge of patient end-of-life (EOL) wishes and discussions are vital for family caregivers, including children and youth who may be in caregiving roles ("young carers" or "caregiving youth"). However, little is known about caregiving youth awareness and perceptions of EOL issues. This study sought to explore caregiving youth knowledge of EOL wishes and their willingness for EOL discussions. Face-to-face interviews with 40 caregiving youth ages 10-20, who have a parent with Huntington's disease (HD), provided information about their knowledge of the presence of their ill parent's living will (LW) and durable power of attorney for health care (DPAHC), and willingness to talk with the parent about EOL choices and possibility of death. Less than one-half of the participants were aware of the parent's LW or DPAHC. Content analysis revealed themes in reasons to want or not want EOL discussion with the parent: respect for the parent's wishes, caregiving youths' opinion not valued, and avoidance of EOL issues. Themes also included reasons to not want discussion with the parent about possibility of death: protecting the parent, parent in denial, parent not ready, and realization of the terminal outcome. Findings suggest HD patients and their caregiving youth need support for open EOL discussions, and could benefit from educational programs and support groups around EOL issues.

Myotonic Dystrophy and Huntington's Disease Care: "We Like to Think We're Making a Difference".

BACKGROUND: Patient-centered care for individuals with myotonic dystrophy (DM1) and Huntington's disease (HD)-chronic, progressive, and life-limiting neurological conditions-may be challenged by patients' cognitive and behavioral impairments. However, no research has explored health care providers' (HCPs') perspectives about patient-centered care provision for these patients along their disease trajectory. METHODS: Constructivist grounded theory informed the iterative data collection and analysis process. Eleven DM1 or HD HCPs participated in semistructured interviews, and three stages of coding were used to analyze their interview transcripts. Codes were collapsed into themes and categories. RESULTS: Three categories including an evolving care approach, fluid roles, and making a difference were identified. Participants described that their clinical care approach evolved depending on the patient's disease stage and caregivers' degree of involvement. HCPs described that their main goal was to provide hope to patients and caregivers through medical management, crisis prevention, support, and advocacy. Despite the lack of curative treatments, HCPs perceived that patients benefited from ongoing clinical care provided by proactive clinicians. CONCLUSIONS: Providing care for individuals with DM1 and HD is a balancing act. HCPs must strike a balance between (1) the frustrations and rewards of patient-centered care provision, (2) addressing symptoms and preventing and managing crises while focusing on patients' and caregivers' quality of life concerns, and (3) advocating for patients while addressing caregivers' needs. This raises important questions: Is patient-centered care possible for patients with cognitive decline? Does chronic neurological care need to evolve to better address patients' and caregivers' complex needs?

Therapeutic Effects of Anthocyanins and Environmental Enrichment in R6/1 Huntington's Disease Mice.

BACKGROUND: Huntington's disease (HD) is a progressive neurodegenerative disease with no effective treatment or cure. Environmental enrichment has been used to slow processes leading to ageing and neurodegenerative diseases including HD. Phenolic phytochemicals including anthocyanins have also been shown to improve brain function in ageing and neurodegenerative diseases. OBJECTIVE: This study examined the effects of anthocyanin dietary supplementation and environmental enrichment on behavioural phenotypes and brain cholesterol metabolic alterations in the R6/1 mouse model of HD. METHODS: R6/1 HD mice and their wild-type littermate controls were randomised into the different experimental conditions, involving either environmentally enriched versus standard housing conditions, or anthocyanin versus control diet. Motor dysfunction was assessed from 6 to 26 weeks using the RotaRod and the hind-paw clasping tests. Gas chromatography - tandem mass spectrometry was used to quantify a broad range of sterols in the striatum and cortex of R6/1 HD mice. RESULTS: Anthocyanin dietary supplementation delayed the onset of motor dysfunction in female HD mice. Environmental enrichment improved motor function and the hind paw clasping phenotype in male HD mice only. These mice also had lower levels of cholesterol oxidation products in the cortex compared to standard-housed mice. CONCLUSION: Both anthocyanin supplementation and environmental enrichment are able to improve the motor dysfunction phenotype of R6/1 mice, however the effectiveness of these interventions was different between the two sexes. The interventions examined did not alter brain cholesterol metabolic deficits that have been reported previously in this mouse model of HD.

Caring for stoma patients with arthritis and mental incapacities.

Mental incapacities in the form of dementia, Parkinson's disease, Huntington's disease, and the physical incapacities of arthritis are difficult hurdles for an older patient who has to undergo stoma surgery, irrespective of the stoma being temporary or permanent. The loss of intellectual and physical function can cause significant deterioration in the patient's ability to carry out day-to-day activities and can also manifest itself in changes in social behaviour. Caring for these patients in the community will require the nurse to adjust the patient's care accordingly, and provide a holistic and more individualised care package that includes the support of the carer or spouse. This article discusses the ways in which community nurses can help the older stoma patient and carer.

Family caregivers' views on coordination of care in Huntington's disease: a qualitative study.

BACKGROUND: Collaboration between family caregivers and health professionals in specialised hospitals or community-based primary healthcare systems can be challenging. During the course of severe chronic disease, several health professionals might be involved at a given time, and the patient's illness may be unpredictable or not well understood by some of those involved in the treatment and care. AIM: The aim of this study was to explore the experiences and expectations of family caregivers for persons with Huntington's disease concerning collaboration with healthcare professionals. METHODS: To shed light on collaboration from the perspectives of family caregivers, we conducted an explorative, qualitative interview study with 15 adult participants experienced from caring for family members in all stages of Huntington's disease. Data were analysed with systematic text condensation, a cross-case method for thematic analysis of qualitative data. RESULTS: We found that family caregivers approached health services hoping to understand the illness course and to share their concerns and stories with skilled and trustworthy professionals. Family caregivers felt their involvement in consultations and access to ongoing exchanges of knowledge were important factors in improved health services. They also felt that the clarity of roles and responsibilities was crucial to collaboration. CONCLUSIONS: Family caregivers should be acknowledged for their competences and should be involved as contributors in partnerships with healthcare professionals. Our study suggests that building respectful partnerships with family caregivers and facilitating the mutual sharing of knowledge may improve the coordination of care. It is important to establish clarity of roles adjusted to caregivers' individual resources for managing responsibilities in the care process.

Balancing needs as a family caregiver in Huntington's disease: a qualitative interview study.

Family members in families with severe chronic disease play important roles in care-giving. In families affected by Huntington's disease (HD), caregivers encounter practical and emotional challenges and distress. Enduring caregiver burdens may lead to problems and caregivers are in need of social support and health services to deal with challenges. We wanted to explore coping strategies and behaviour patterns used by family caregivers to care for themselves, while caring for a family member with HD. Participants were recruited from hospitals and community-based healthcare. The sample represents experiences from care-giving in all stages of the disease. We conducted semi-structured interviews with 15 family caregivers in Norway. The transcribed material was analysed by use of systematic text condensation, a method for cross-case thematic analysis of qualitative data. We found that family members used various coping strategies, adjusted to the stage and progression of HD. They tried to regulate information about the disease, balancing considerations for protection and disclosure, within and outside the family. The participants made efforts to maintain a balance between their own needs in everyday life and the need for care for affected family member(s). As the disease progressed, the balance was skewed, and the family caregivers' participation in social activities gradually decreased, resulting in experiences of isolation and frustration. In later stages of the disease, the need for care gradually overshadowed the caregivers' own activities, and they put their own life on hold. Health professionals and social workers should acknowledge that family caregivers balance their needs and considerations in coping with HD. They should, therefore, tailor healthcare services and social support to family caregivers' needs during the different stages of HD to improve caregivers' abilities to maintain some of their own activities, in balance with care-giving.

Palliative Care Doula: an innovative model.

Walking the journey of serious illness is very difficult and stressful for patients and families. A universal principle of palliative care is caring for the patient/ family unit. This article introduces a model for the Palliative Care Doula for experienced and advanced practice palliative care nurses to support patients and families during the traumatic and vulnerable period of end-of-life care.

Caregiver roles in families affected by Huntington's disease: a qualitative interview study.

AIM: The objective of this study was to explore family caregivers' experiences with the impact of Huntington's disease (HD) on the family structure and roles in the family. METHODOLOGY: We interviewed 15 family caregivers in families affected by HD, based on a semi-structured interview guide. The participants were recruited through hospital departments and a lay organisation for HD in Norway. Data from the interviews were analysed with systematic text condensation. RESULTS: Huntington's disease could have a substantial impact on the family system, the shape of roles among family members and the hierarchical order between spouses, partners, and parents and children. The relationship between spouses and partners changed during the course of the disease. A reciprocal relationship was difficult to maintain, as the role as carer overshadowed other roles. Children of an affected parent could compensate for impairments by taking on adult responsibilities, and in some families, a child had the role as main caregiver. The increasing need for care could cause conflicts between the role as family member and family caregiver. The burden of care within the family could fragment and isolate the family. CONCLUSIONS: Huntington's disease has a major impact on family systems. Caregiver roles are shaped by impairments in the affected family member and corresponding dynamic adoption and change in roles within the family. Making assessments of the family structure and roles, professionals may understand more about how to care for and support individuals in their role as family members and caregivers in different stages of the disease and family life cycle.

Obtaining and communicating information about genetics and genomics.

This is the eighth article in a series looking at how nurses can develop competence in genetics and genomics health care. The article explores the many ways in which nurses can acquire up to date and accurate genetic and genomic information, with the intention of improving their knowledge base. It enables nurses to discover the best ways of giving specific and complex information to patients and colleagues effectively and using straightforward language.

Qualitative study on the placement of Huntington disease patients in a psychiatric hospital: perceptions of Maltese nurses.

Individuals with adult or juvenile Huntington disease can be cared for within psychiatric hospitals. In this paper, nurses' perceptions about the appropriateness of a psychiatric setting for these patients were explored. Semistructured interviews were conducted with 10 Maltese nurses involved in the care of these individuals. Their responses were analyzed using thematic analysis. Three main themes were identified from this study: (i) Huntington disease is not a mental illness; (ii) the lack of specialized staff and equipment within a psychiatric setting; and (iii) a need for alternative care options. The findings provide an insight into the perceptions of nurses, as they play a key role in the care and management of individuals with Huntington disease in a psychiatric setting. The findings demonstrated the need to provide alternative residential options in the community, and to improve the care and support provided both within psychiatric hospitals and the community through staff education and the provision of necessary facilities and equipment.

Which patient groups should be asked to participate in first-in-human trials of stem-cell-based therapies?

The aims of this article are to consider (1) whether there are medical and societal differences among diseases regarding which patient groups should be asked to participate in first-in-human (FIH) trials of stem-cell-based therapies; (2) any differences in the light of values generally endorsed by different types of ethical theories, since the question in the title of this article is value laden, and its answer depends on which values one wants to promote and protect, and how they are ranked in importance; (3) whether the answer to that question is disease-specific, or whether it depends on factors common to several diseases. To illustrate these problems, we use Parkinson's disease (PD) and Huntington's disease (HD), between which there are important medical and societal differences. Moreover, research on stem-cell-based therapies for these diseases is being translated from research to practice. This approach to the problem can be applied to decision making about similar problems raised by other diseases that exhibit the same types of differences.

[The life as a caregiver of a person affected by Chorea Huntington: multiple case study]. / Das Leben als pflegender Angehöriger einer von Chorea Huntington betroffenen Person: Eine multiple Fallstudie.

UNLABELLED: Chorea Huntington is an autosomal dominantly inherited, neurodegenerative brain disorder that leads to involuntary hyperkinesia, psychotic symptoms and dementia. The illness not only changes the life of the person itself but also the world of the caregivers. The challenges in the care of a person which is affected by Chorea Huntington have an effect on the daily living as an assemblage of natural and social conditions. METHOD: a multiple case study was conducted. It included semi-structured interviews with three caregivers of people with Chorea Huntington in South Tyrol. The qualitative data was analyzed using the qualitative structured analysis of Mayring (2007). OBJECTIVE: The objective of this study was to describe the phenomenon of change of life from family members that care people affected by Chorea Huntington in a specific cultural setting (South Tyrol, Italy). RESULTS: The caregivers reported that the diagnosis of Chorea Huntington leads to negative changes in "relationship and family". Particularly, frustration, aggression, impatience and apathy were perceived as stressful. At the same time they highlight the positive changes through home care. They report that the relationship became more intimate and integral and it was characterized by more cohesion. Family caregivers get valuable support from the home care service, however, they complain that there is no facility in South Tyrol, which is specialized to care people with Chorea Huntington. Therefore, the caregivers have to "give up a lot" and don't have any personal desires, dreams and expectations for the future. CONCLUSIONS: The caregivers have learned independently to deal with their changed life step by step, and to see also the positive effects of the caring role. The life of family caregivers of a person which is affected by Chorea Huntington is characterized by abandonment. A continuous and professional care would be important for the affected and his caregiver. A continuous and professional care is important for both, addressing the care needs of the persons affected by Chorea Huntington and preparing their caregivers for the changing life.

Family carer personal concerns in Huntington disease.

AIM: To examine and compare the personal concerns of family members providing care for people with Huntington disease in the United Kingdom and the United States. BACKGROUND: Family carers of people with Huntington disease may feel burdened by caregiving responsibilities and concerned about illness risk for relatives. METHOD: A mailed personal concerns survey was completed by 108 United Kingdom and 119 United States adult family carers of people with Huntington disease in 2006 and 2007. Survey responses included frequency and intensity of concerns, and narrative comments. Data were analysed using descriptive statistics of the products of frequency and intensity of reaction scores to identify a personal concerns index for items with the twelve highest combined scores. Factor analysis identified three factors, which were compared between respondents by factor and items within factors using t tests mean frequency by intensity scores. Narrative comments were thematically analysed. RESULTS: Three main factors were labelled impact of role change, sense of isolation and concerns for children. Within the role change factor, United States family caregivers had significantly higher concerns about family finances and United Kingdom carers expressed significantly greater personal sadness. Both groups expressed concern about isolation from family. Although family carers in both countries expressed concern about their children, those of United States caregivers were significantly higher. CONCLUSION: Further studies are required to identify benefits of support services that are specific to carer concerns and consistent with national healthcare systems.

The Appointment of a Huntington's Disease Nurse Specialist has Reduced Admission Rate and Improved Admission Quality.

We aimed to determine if the appointment of a Huntington's disease (HD) nurse specialist has influenced inpatient admission rates and admission quality at Auckland Hospital. We collated HD inpatient admission data for the 32 months before and after her appointment and compared the quality of cognition, mood, speech/swallowing and safety assessments between admissions where the nurse was and was not involved. After the appointment of the HD nurse there was a 51% reduction in average monthly HD admission rates (p = 0.0009). HD admissions specifically related to HD decreased by 54% (p = 0.005). There was also an improvement in the quality of admissions.

Promoting Excellence in End-of-Life Care: lessons learned from a cohort of nursing home residents with advanced Huntington disease.

Huntington disease (HD) is a genetic neurodegenerative disorder that progresses over decades and is ultimately terminal. As HD advances, patients are frequently placed in institutional care settings, including nursing homes and hospices where family, nursing staff, and interdisciplinary team members are challenged to help patients live to their highest potential and die with dignity. Edgemoor, a distinct part of the San Diego County Psychiatric Hospital, is a regional referral facility for patients with HD. Over the past 8 years, we have cared for 53 patients with advanced HD and describe our experiences by presenting their demographic characteristics and the lessons we have learned in caring for them. Ultimately, we found that the Robert Wood Johnson Foundation's Promoting Excellence in End-of-Life Care Initiative provided a meaningful framework for setting clinical priorities. This framework is used to summarize the clinical lessons that nursing staff and interdisciplinary team members learned about caring well for institutionalized individuals with advanced HD.