NICE (National Institute for Health & Care Excellence) guidance recommends that healthcare professionals with expertise in palliative care should be an integral part of the multidisciplinary team in managing patients with motor neuron disease (MND). Those in the poorest prognostic group may benefit from early referral to help manage rapidly progressive symptoms, psychological distress and offer additional support with complex decision-making and early robust advance care planning. Patients frequently develop dysphagia and gastrostomy feeding can be used to prolong survival and improve quality of life. As the disease progresses patients may request withdrawal of life-sustaining treatment such as gastrostomy feeding; however, a literature search found no evidence or guidance on how best to facilitate this. We present the case of a patient with MND admitted to the hospice inpatient unit requesting withdrawal of gastrostomy feeding, outline the challenges and need for further consensus guidelines to inform practice.
BACKGROUND: Refractory status epilepticus (RSE) represents a serious medical condition requiring early and targeted therapy. Given the increasing number of elderly or multimorbid patients with a limitation of life-sustaining therapy (LOT) or within a palliative care setting (PCS), guidelines-oriented therapy escalation options for RSE have to be omitted frequently.
OBJECTIVES: This systematic review sought to summarize the evidence for fourth-line antiseizure drugs (ASDs) and other minimally or non-invasive therapeutic options beyond guideline recommendations in patients with RSE to elaborate on possible treatment options for patients undergoing LOT or in a PCS.
METHODS: A systematic review of the literature in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, focusing on fourth-line ASDs or other minimally or non-invasive therapeutic options was performed in February and June 2020 using the MEDLINE, EMBASE and Cochrane databases. The search terminology was constructed using the name of the specific ASD or therapy option and the term 'status epilepticus' with the use of Boolean operators, e.g. "(brivaracetam) AND (status epilepticus)". The respective Medical Subject Headings (MeSH) and Emtree terms were used, if available.
RESULTS: There is currently no level 1, grade A evidence for the use of ASDs in RSE. The best evidence was found for the use of lacosamide and topiramate (level 3, grade C), followed by brivaracetam, perampanel (each level 4, grade D) and stiripentol, oxcarbazepine and zonisamide (each level 5, grade D). Regarding non-medicinal options, there is little evidence for the use of the ketogenic diet (level 4, grade D) and magnesium sulfate (level 5, grade D) in RSE. The broad use of immunomodulatory or immunosuppressive treatment options in the absence of a presumed autoimmune etiology cannot be recommended; however, if an autoimmune etiology is assumed, steroid pulse, intravenous immunoglobulins and plasma exchange/plasmapheresis should be considered (level 4, grade D). Even if several studies suggested that the use of neurosteroids (level 5, grade D) is beneficial in RSE, the current data situation indicates that there is formal evidence against it.
CONCLUSIONS: RSE in patients undergoing LOT or in a PCS represents a challenge for modern clinicians and epileptologists. The evidence for the use of ASDs in RSE beyond that in current guidelines is low, but several effective and well-tolerated options are available that should be considered in this patient population. More so than in any other population, advance care planning, advance directives, and medical ethical aspects have to be considered carefully before and during therapy.
Background and Aims: Palliative care is an important area of intervention in neurodegenerative diseases. The aim of this study is to understand the relationship between Palliative Care Needs and Caregiver Burden among persons diagnosed with neurodegenerative diseases.
Methods: A cross-sectional study design was adopted to explore the research problem. A prospective sample of 120 participants (60 Patient Caregiver dyads) of Motor Neurone Disease (MND) and Parkinson's disease (PD) were recruited for the study based on inclusion and exclusion criteria from a quaternary referral care centre for neurology in south India. Patients seeking care were recruited for the study consecutively. Palliative care outcome scale and Zarit Burden Interview scale were administered to understand the relationship.
Results: It was found that Palliative care outcomes score was positively correlated with caregiver burden (r = 0.597), showing that there is a bi-directional relationship between palliative care needs and caregiver burden.
Conclusion: Irrespective of the differences in illness characteristics, the study found that palliative care needs are high among chronic neurological conditions which requires a noncategorical psychosocial approach in ensuring care.
The objective was to identify the attitudes of progressive neurological disease (PND) patients and their family members regarding end-of-life care, and their worries about dying. The sample included 327 participants. The Attitudes of Patients with PND to End-of-Life Care questionnaire was used to collect the data. Statistically significant differences in the assessment of attitudes towards end-of-life care between patients and family members were identified (p < 0.001). Family members more frequently favored patients being kept alive at any cost; patients more commonly wished to have their end of life under control. Respondents most frequently deferred to doctors when it came to decisions on treatment to keep patients alive. However, both patients and family members wanted patients to be able to decide on their treatment by leaving a written record of their previously stated wishes. The demands of patients and their families regarding end-of-life care should be documented in individual care plans.
Background: despite being a terminal neurodegenerative disease, the role of palliative care is less recognised for motor neurone disease than for other life-limiting conditions. Understanding the experiences of, and need for, palliative care for patients and carers is key to configuring optimal policy and healthcare services.
Aim: To explore the experiences of, and need for, palliative care of people with motor neurone disease and their informal carers across the disease trajectory.
Design: A systematic review of qualitative research conducted using Thematic Synthesis – PROSPERO registration CRD42017075311.
Data Sources: four electronic databases were searched (MEDLINE, CINAHL, PsycINFO, Social Science Citation Index) using terms for motor neurone disease, amyotrophic lateral sclerosis, palliative care, and qualitative research, from inception to November 2018. Included papers were data extracted and assessed for quality.
Results: A total of 41 papers were included, representing the experiences of 358 people with motor neurone disease and 369 caregivers. Analytical themes were developed detailing patients’ and carers’ experiences of living with motor neurone disease and of palliative care through its trajectory including response to diagnosis, maintaining control, decision-making during deterioration, engaging with professionals, planning for end-of-life care, bereavement.
Conclusion: The review identified a considerable literature exploring the care needs of people with motor neurone disease and their carers; however, descriptions of palliative care were associated with the last days of life. Across the disease trajectory, clear points were identified where palliative care input could enhance patient and carer experience of the disease, particularly at times of significant physical change.
BACKGROUND: A developing body of evidence has provided valuable insight into the experiences of caregivers of people with motor neuron disease; however, understandings of how best to support caregivers remain limited.
AIM: This study sought to understand concepts related to the motor neuron disease caregiver experience which could inform the development of supportive interventions.
DESIGN: A qualitative thematic analysis of a one-off semistructured interview with caregivers was undertaken.
SETTING/PARTICIPANTS: Caregivers of people with motor neuron disease were recruited from a progressive neurological diseases clinic in Melbourne, Australia.
RESULTS: 15 caregivers participated. Three key themes were identified: (1) The Thief: the experience of loss and grief across varied facets of life; (2) The Labyrinth: finding ways to address ever changing challenges as the disease progressed; (3) Defying fate: being resilient and hopeful as caregivers tried to make the most of the time remaining.
CONCLUSIONS: Caregivers are in need of more guidance and support to cope with experiences of loss and to adapt to changeable care giving duties associated with disease progression. Therapeutic interventions which target these experiences of loss and change are worth investigation.
TRIAL REGISTRATION NUMBER: ACTRN12615000120572, pre-results.
Introduction: Motor neuron disease (MND) is a progressive neuromuscular disorder that can have significant and debilitating impact on the affected patient and families. Spouses are the primary carers for persons with MND in India, and the life of the person with MND and their spouse is never the same after the diagnosis.
Aim: The objective was to explore the lived experience of spouses of persons diagnosed with MND.
Methods: A qualitative exploratory study with three-point interviews was conducted with spouse caregivers of two persons diagnosed with MND who were receiving treatment from a national tertiary referral care center for neurological disorders. All the patients were diagnosed as definite MND according to the modified El Escorial criteria. With the spouses, in-depth interviews were conducted at their home, lasting on an average of 1 hour using a semi-structured interview guide (prompts). Interpretative phenomenological analysis was used to derive themes from the interviews.
Results: The major themes emerged from the analysis were meaning of MND which contained the subthemes of delay in diagnosis and deterioration, psychological response across illness trajectory, relationship with the subthemes of changing roles in being acarer, marital relationship, to be seen as doing "right," and communication; adaptation with the subthemes of coping strategies and support system and life without the loved one.
Conclusion: The changes in the lives of spouses and in strategies for caring the partner with deterioration of symptoms in the illness trajectory are explained in this study. The palliative approach in the management of MND has to take into account, the experiences and needs of carers since care happens at home.
Spinal muscular atrophy type 1 (SMA-1) is a severe neurodegenerative disorder, which in the absence of curative treatment, leads to death before 1 year of age in most cases. Caring for these short-lived and severely impaired infants requires palliative management. New drugs (nusinersen) have recently been developed that may modify SMA-1 natural history and thus raise ethical concerns about the appropriate level of care for patients. The national Hospital Clinical Research Program (PHRC) called "Assessment of clinical practices of palliative care in children with Spinal Muscular Atrophy Type 1 (SMA-1)" was a multicenter prospective study conducted in France between 2012 and 2016 to report palliative practices in SMA-1 in real life through prospective caregivers' reports about their infants' management. Thirty-nine patients were included in the prospective PHRC (17 centers). We also studied retrospective data regarding management of 43 other SMA-1 patients (18 centers) over the same period, including seven treated with nusinersen, in comparison with historical data from 222 patients previously published over two periods of 10 years (1989-2009). In the latest period studied, median age at diagnosis was 3 months [0.6-10.4]. Seventy-seven patients died at a median 6 months of age[1-27]: 32% at home and 8% in an intensive care unit. Eighty-five percent of patients received enteral nutrition, some through a gastrostomy (6%). Sixteen percent had a non-invasive ventilation (NIV). Seventy-seven percent received sedative treatment at the time of death. Over time, palliative management occurred more frequently at home with increased levels of technical supportive care (enteral nutrition, oxygenotherapy, and analgesic and sedative treatments). No statistical difference was found between the prospective and retrospective patients for the last period. However, significant differences were found between patients treated with nusinersen vs. those untreated. Our data confirm that palliative care is essential in management of SMA-1 patients and that parents are extensively involved in everyday patient care. Our data suggest that nusinersen treatment was accompanied by significantly more invasive supportive care, indicating that a re-examination of standard clinical practices should explicitly consider what treatment pathways are in infants' and caregivers' best interest. This study was registered on clinicaltrials.gov under the reference NCT01862042 (https://clinicaltrials.gov/ct2/show/study/NCT01862042?cond=SMA1&rank=8).
Gabriel García Márquez opens Chronicle of a Death Foretold with a brutal finality: a man is murdered in the doorway of his home. Hundreds of pages later, the reader has some insight into why the death happened, but the event itself is never in doubt.
Like the famous novel, the mortality follow-back study is a subset of case design, constructed in reverse time: collect a set of patients who have some outcome—in this case, death—under some defined set of circumstances or with some defined condition, and look back to understand the days, weeks, or years leading up to that event. This study design is abundant in the cancer literature to understand end-of-life care patterns, costs, and experiences of death. More recently this design has been applied to the ESKD population. This is a population where mortality rates exceed those of the major cancer subtypes, so patient death is a common event, and one of great interest to clinicians and epidemiologists alike.
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The concepts of hope and its absence, hopelessness, are seen as crucial in palliative care for people with motor neurone disease. A primary measure in psychological research on hopelessness in people with motor neurone disease is the Beck Hopelessness Scale. This scale can be understood as being conceptually based on the philosophical standard account of hope, which understands hope as an intentional expectancy. This essay argues that this is a misconstruction of hopelessness in palliative care. Rather, pre-intentional hope is essential for palliative care of people with motor neurone disease. Pre-intentional hope enables the formation of intentional hopes and is intrinsically relational. Finally, it is argued that the absence of pre-intentional hope should not be subjected to psychiatric diagnosis, for example, in the form of demoralization disorder.
Death rattle commonly occurs at the end of life and is typically managed with anticholinergic agents. Myasthenia gravis is an autoimmune disorder characterized by fatigability of skeletal muscle, resulting from autoimmune destruction of acetylcholine receptors at the motor endplate. The condition is treated with acetylcholinesterase inhibitors, which potentiate the action of acetylcholine. Agents that antagonize acetylcholine activity (e.g., anticholinergic agents, such as glycopyrrolate) can, therefore, exacerbate myasthenia gravis. We discuss the case of a patient dying with myasthenia gravis that developed problematic "death rattle," and the successful use of glycopyrrolate in treating this symptom.
Background: Motor neurone disease is a terminal neurological illness with no known cure. It is often referred to as a ‘family disease’ with the ripples causing additional implications for children and young people. As such, little is known about how to best support young people (24 years old and under) (WHO, 2019)) when a family member dies from the disease. One potential solution is through use of a digital legacy whereby videos which document a person’s life, memories and achievements are purposefully recorded by an adult during their illness. However, due to this being an emerging area of research, little is known about whether a digital legacy may support or hinder bereavement for young people affected by the disease.
Aim: To investigate healthcare professionals, specialists and experts views, perceptions and experiences of using digital legacies with bereaved young people due to motor neurone disease.
Design: A qualitative study underpinned by interpretative phenomenological analysis.
Setting/participants: Twenty healthcare professionals, specialists and experts were recruited using a maximum purposive sampling method. Open-ended interviews were conducted in participants’ place of work either over the telephone or by the lead researcher. Ethical approval was granted by a university ethics committee and Health Research Authority (HRA).
Findings: Two key overarching themes were identified from the data: perceived benefit and value for bereaved young people using a digital legacy and challenges and barriers for bereaved young people using a digital legacy.
Conclusion: A number of potential challenges and considerations were identified. However, the use of a digital legacy was perceived to be a feasible and valuable method of support for young people bereaved as a result of motor neurone disease.
Le père d'Olivia, 10 ans, est malade. Atteint d'une maladie neurodégénérative, il ne peut plus monter les escaliers et est installé en bas, jusqu'au moment où il devra être hospitalisé et où il décidera de ne plus lutter. A travers le regard d'Olivia, heureuse d'être entourée de tous les siens et de son chat, entre les larmes et les rires, nous suivons le quotidien de la famille confrontée à la maladie et à la fin de vie.
A major unresolved problem in neurodegenerative disease is why and how a specific set of neurons in the brain are highly vulnerable to neuronal death. Multiple pathways and mechanisms have been proposed to play a role in Alzheimer disease (AD), Parkinson disease (PD), amyotrophic lateral sclerosis (ALS), and Huntington disease (HD), yet how they contribute to neuronal vulnerability remains far from clear. In this review, various mechanisms ascribed in AD, PD, ALS, and HD will be briefly summarized. Particular focus will be placed on Rhes-mediated intercellular transport of the HD protein and its role in mitophagy, in which I will discuss some intriguing observations that I apply to model striatal vulnerability in HD. I may have unintentionally missed referring some studies in this review, and I extend my apologies to the authors in those circumstances.
AIM: Evaluation of pediatric palliative home care of families with children suffering from neurodegeneration with brain iron accumulation (NBIA) and their parents.
MATERIAL AND METHODS: The children were treated at home by a multidisciplinary team. Densitometry was used to evaluate the condition of the skeletal system. Botulinum toxin was injected into the muscles in doses between 22 and 50 units/kg. The quality of palliative care was assessed on the basis of a specially designed questionnaire for parents.
RESULTS: The observations were performed on a group of 9 patients with NBIA. On admission, the median age of patients was 9 years (7-14). The average time of palliative home care was 1569 days (34 days-17 years). The median age at death (6 patients) was 11 years (7-15). The botulinum toxin injections gave the following results: reduction of spasticity and dystonia, reduction of spine and chest deformation, relief of pain and suffering, facilitation of rehabilitation and nursing, prevention of permanent contractures, and reduction of excessive salivation. Bone mineral density and bone strength index were reduced. Two patients experienced pathological fracture of the femur. The body mass index at admission varied between 9.8 and 14.9. In 7 cases, introduction of a ketogenic diet resulted in the increase of body mass and height. The ketogenic diet did not worsen the neurological symptoms. The parents positively evaluated the quality of care.
CONCLUSION: Palliative home care is the optimal form of treatment for children with NBIA.
Palliative care is an approach to the care of patients, affected by serious illness, and their families that aims to reduce suffering through the management of medical symptoms, psychosocial issues, spiritual well-being, and setting goals of care. Patients and families affected by a neurodegenerative illness have significant palliative care needs beginning at the time of diagnosis and extending through end-of-life care and bereavement. We advocate an approach to addressing these needs where the patient's primary care provider or neurologist plays a central role. Key skills in providing effective palliative care to this population include providing the diagnosis with compassion, setting goals of care, anticipating safety concerns, caregiver assessment, advance care planning, addressing psychosocial concerns, and timely referral to a hospice. Managing distressing medical and psychiatric symptoms is critical to improving quality of life throughout the disease course as well as at end-of-life. Many symptoms are common across illnesses; however, there are issues that are specific to the most common classes of neurodegenerative illness, namely dementia, parkinsonism, and motor neuron disease. Incorporating a palliative approach to care, although challenging in many ways, empowers physicians to provide greater support and guidance to patients and families in making the difficult journey through a neurodegenerative illness.
Introduction : Notre équipe régionale ressource de soins palliatifs pédiatriques (ERRSPP) a accompagné une enfant de 12 ans polyhandicapée atteinte d’une maladie génétique neurodégénérative pendant 5 ans. La qualité de l’alliance entre la famille et l’IEM et le soutien de l’ERRSPP a permis de créer un climat propice à une demande particulière de la famille : un accompagnement jusqu’au décès dans l’établissement. Aujourd’hui en France, la possibilité d’un accompagnement en phase terminale reste exceptionnelle dans les IEM, les patients étant transférés sur le Centre Hospitalier.
Histoire de S. : un accompagnement de 5 ans au sein de l’IEM : L’ERRSPP et l’IEM ont été en lien régulièrement pour établir un projet de vie autour de cet enfant. Un travail de réflexion autour de sa fin de vie a été mené : prescription anticipée pour douleur et/ou symptômes rebelles, voie d’abord, disponibilités des différents intervenants, la place de chacun au sein de l’établissement, l’accompagnement des parents. Cet enfant est décédé à l’âge de 17 ans au sein de son établissement selon le souhait des parents. L’IEM a eu la volonté de suivre le souhait familial malgré les contraintes et les faibles moyens de l’établissement. L’ERRSPP a permis de sécuriser la mise en place des différents traitements selon les symptômes et d’assurer le soutien des professionnels.
Conclusion/discussion : La réunion post-décès souligne un accompagnement de qualité, (confort de l’enfant, personnel se sentant soutenu) malgré des difficultés réelles (absence de présence médicale continue, nombre limité de soignants et nombre élevé de patients).
Background: Motor neurone disease is a progressive neurodegenerative disease without cure. Little is known about how young people are affected when a family member has the illness and subsequently dies, resulting in a gap in understanding of how best to support them. One psychotherapeutic approach involves creating a legacy to pass onto the young person, but little research has investigated the use of an emerging format, digital legacies, where videos document a person’s life, memories and achievements.
Aim: To investigate the views, perceptions and experiences of digital legacies with people affected by motor neurone disease.
Design: A qualitative study underpinned by interpretative phenomenological analysis.
Setting/participants: People living with motor neurone disease (n = 4) and bereaved young people (n = 3) in the United Kingdom. Open-ended interviews were conducted in person. Ethical approval was granted by a University ethics committee.
Results: Five key themes emerged exemplifying mutual challenges and benefits for people with motor neurone disease and bereaved young people. Creating a digital legacy provides a sense of purpose for people with motor neurone disease and a way to convey personality and life experiences. Bereaved young people can modify disease-related memories of the person and gain comfort from hearing and seeing videos.
Conclusion: This study expands the existing continuing bonds model of grief to include an ‘autobiographical chapter’, creating ‘The Model of Reciprocal Bonds Formation’.
Objective: To explore end-of-life (EoL) decision-making and palliative care in hypoxic-ischaemic encephalopathy (HIE) nationwide.
Methods: A cross-sectional national study on moderate-to-severe HIE in newborns =35 weeks’ gestational age in 2015, including all 57 level III units that offered hypothermia. Forty-one questions were included to explore how the prognosis is established, as well as timing of the decision-making process, and also how ongoing palliative care is offered.
Results: The main difficulties in EoL decisions lie in the scarce time to make an early, accurate prognosis. Only 20% shared the neurological prognosis with the parents within 72 hours of life, and in only a third of the centres is the nurse present when the prognostic information is given to the family. Almost 50% do not use protocols to order the EoL process. Practically, all centres (91%) reported taking into account the wishes of the parents. However, in 30% the team does not always reach consensus on how the withdrawal process. Specialised psychological support is available in 54% of the hospitals; in more than 50%, interviews are not arranged to examine the grieving process with parents.
Conclusions: There are four areas for improvement in the comprehensive, multidisciplinary approach to the EoL decision in the patient with HIE: (1) the need for EoL and interdisciplinary palliative care protocols, (2) participation of nurses in the process and improvement in the nurse–physician communication, (3) psychological support for parents involved in the EoL decisions and (4) implementation of strategies to give support during the grieving process.