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Amyotrophic Lateral Sclerosis (ALS) is an incurable neurodegenerative condition. Despite significant advances in pre-clinical models that enhance understanding of disease pathobiology, translation of candidate drugs to effective human therapies has been disappointing. There is increasing recognition of the need for a precision medicine approach toward drug development, as many failures in translation can be attributed in part to disease heterogeneity in humans. PRECISION-ALS is an academic industry collaboration between clinicians, Computer Scientists, Information engineers, technologists, data scientists and industry partners that will address the key clinical, computational, data science and technology associated research questions to generate a sustainable precision medicine based approach toward new drug development. Using extant and prospectively collected population based clinical data across nine European sites, PRECISION-ALS provides a General Data Protection Regulation (GDPR) compliant framework that seamlessly collects, processes and analyses research-quality multimodal and multi-sourced clinical, patient and caregiver journey, digitally acquired data through remote monitoring, imaging, neuro-electric-signaling, genomic and biomarker datasets using machine learning and artificial intelligence. PRECISION-ALS represents a first-in-kind modular transferable pan-European ICT framework for ALS that can be easily adapted to other regions that face similar precision medicine related challenges in multimodal data collection and analysis. ispartof: AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION vol:24 issue:5-6 ispartof: location:England status: Published online

Amyotrophic Lateral Sclerosis (ALS) is a rare neurodegenerative disease that causes a rapid decline in motor functions and has a fatal trajectory. ALS is currently incurable, so the aim of the treatment is mostly to alleviate symptoms and improve quality of life (QoL) for the patients. The goal of this study is to develop a Clinical Decision Support System (CDSS) to alert clinicians when a patient is at risk of experiencing low QoL. The source of data was the Irish ALS Registry and interviews with the 90 patients and their primary informal caregiver at three time-points. In this dataset, there were two different scores to measure a person's overall QoL, based on the McGill QoL (MQoL) Questionnaire and we worked towards the prediction of both. We used Extreme Gradient Boosting (XGBoost) for the development of the predictive models, which was compared to a logistic regression baseline model. Additionally, we used Synthetic Minority Over-sampling Technique (SMOTE) to examine if that would increase model performance and SHAP (SHapley Additive explanations) as a technique to provide local and global explanations to the outputs as well as to select the most important features. The total calculated MQoL score was predicted accurately using three features - age at disease onset, ALSFRS-R score for orthopnoea and the caregiver's status pre-caregiving - with a F1-score on the test set equal to 0.81, recall of 0.78, and precision of 0.84. The addition of two extra features (caregiver's age and the ALSFRS-R score for speech) produced similar outcomes (F1-score 0.79, recall 0.70 and precision 0.90). European Commission - European Regional Development Fund Health Research Board Science Foundation Ireland FutureNeuro industry partners

BackgroundPublic health restrictions due to the COVID-19 (SARS CoV-2) pandemic have disproportionately affected informal caregivers of people living with long term health conditions. We aimed to explore levels of care burden, loneliness, and social isolation among caregivers of people with enduring physical and brain health conditions in English-speaking regions worldwide, by investigating outcomes before and during the COVID-19 pandemic.MethodsA cross-sectional anonymous online survey data from 2287 English-speaking caregivers of people with long term health conditions from four English-speaking regions (UK, Ireland, USA, New Zealand) included measures of care burden, loneliness, and social isolation, reported before and during the COVID-19 pandemic. Analyses were descriptive, followed by an ordinal regression model for predictors of burden.ResultsCompared to pre-pandemic levels, all caregivers experienced a significant increase in burden, loneliness, and isolation. Caregivers of people with both brain health and physical conditions were the most burdened and had the highest levels of loneliness and isolation compared to caregivers of people with either a brain health or physical condition only. The increase in care burden among caregivers of people with brain health challenges was associated with caregiver's gender, moderate and severe emotional loneliness, magnitude and frequency of isolation during the pandemic, and care circumstances (cohabitation with the care recipient, restrictions on the ability to provide care).ConclusionsHealth and social care interventions should target caregivers' care circumstances and psychological outcomes, particularly in women, accounting for the significant additional burden of care, loneliness, and isolation resulting from pandemic-related restrictions.

Amyotrophic Lateral Sclerosis (ALS) is a systemic and terminal disorder of the central nervous system which causes paralysis of limbs, respiratory and bulbar muscles, impacting on physical, communication, cognitive and behavioural functioning. Informal caregivers play a key role in the care of people with ALS. This study aimed to explore experiences of burden along with any beneficial aspects of caregiving in ALS. An understanding of both burden and benefit is important to support the informal caregiver and the person with ALS.This exploratory mixed methods study characterizes two groups of informal caregivers in Ireland (n = 76) and the Netherlands (n = 58). In a semi-structured interview, quantitative data were collected in the form of standardized measures assessing psychological distress, quality of life and burden. Qualitative data were collected from an open ended question, in which caregivers identified positive aspects in their caregiving experience. These data types were purposefully mixed in the analysis and interpretation stages, to provide a greater depth of evidence through diverse research lenses.The caregiver cohorts were predominantly female (69%) and spouse/partners (84%) of the person with ALS. Greater levels of self-assessed burden were found among the caregivers in the Netherlands (p 0.05), and higher levels of quality of life among the cohort from Ireland (p 0.05). Themes generated through qualitative analysis identified caregiver satisfaction, ability to meet the patient's needs and the (re) evaluation of meaning and existential aspects of life as positive aspects of caregiving. Existential factors were identified frequently by the caregivers in Ireland, and personal satisfaction and meeting their care recipient's needs by caregivers in the Netherlands. Three percent of all respondents reported there was nothing positive about caregiving.Based on our findings, we suggest that both burden and the presence of positive factors should be evaluated and monitored. The possibility of concurrent positive and challenging experiences should be considered in the design and delivery of supportive interventions for informal caregivers.

Background Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative condition with a mean life expectancy of 3 years from first symptom. Understanding the factors that are important to both patients and their caregivers has the potential to enhance service delivery and engagement, and improve efficiency. The Discrete Choice Experiment (DCE) is a stated preferences method which asks service users to make trade-offs for various attributes of health services. This method is used to quantify preferences and shows the relative importance of the attributes in the experiment, to the service user. Methods A DCE with nine choice sets was developed to measure the preferences for health services of ALS patients and their caregivers and the relative importance of various aspects of care, such as timing of care, availability of services, and decision making. The DCE was presented to patients with ALS, and their caregivers, recruited from a national multidisciplinary clinic. A random effects probit model was applied to estimate the impact of each attribute on a participant’s choice. Results Patients demonstrated the strongest preferences about timing of receiving information about ALS. A strong preference was also placed on seeing the hospice care team later rather than early on in the illness. Patients also indicated their willingness to consider the use of communication devices. Grouping by stage of disease, patients who were in earlier stages of disease showed a strong preference for receipt of extensive information about ALS at the time of diagnosis. Caregivers showed a strong preference for engagement with healthcare professionals, an attribute that was not prioritised by patients. Conclusions The DCE method can be useful in uncovering priorities of patients and caregivers with ALS. Patients and caregivers have different priorities relating to health services and the provision of care in ALS, and patient preferences differ based on the stage and duration of their illness. Multidisciplinary teams must calibrate the delivery of care in the context of the differing expectations, needs and priorities of the patient/caregiver dyad.

The Irish Republic (population 4.9 million) has 150 new cases of ALS each year and 380 individuals living with the condition. There is one specialist public multidisciplinary service for ALS in the country, linking closely with the voluntary organization (IMNDA) and providing care for all Irish citizens.

Background Quality of life is a basic goal of health and social care. The majority of people with Amyotrophic Lateral Sclerosis (ALS) are cared for at home by family caregivers. It is important to recognize the factors that contribute to quality of life for individuals to better understand the lived experiences in a condition for which there is currently no curative treatment. Aim To explore individual quality of life of people with ALS and their informal caregivers over time. Methods Over three semi-structured home interviews, 28 patient-caregiver dyads provided information on a range of demographic and clinical features, psychological distress, caregiver burden, and individual quality of life. Quality of life data were analysed using quantitative and qualitative methods with integration at the analysis and interpretation phases. Results Individual Quality of Life was high for patients and caregivers across the interviews series, and higher among patients than their care partners at each time point. Family, hobbies and social activities were the main self-defined contributors to quality of life. The importance of health declined relative to other areas over time. Friends and finances became less important for patients, but were assigned greater importance by caregivers across the illness trajectory. Psychological distress was higher among caregivers. Caregiver burden consistently increased. Conclusion The findings from this study point to the importance of exploring and monitoring quality of life at an individual level. Self-defined contributory factors are relevant to the individual within his/her context. As an integrated outcome measure individual quality of life should be assessed and monitored as part of routine clinical care during the clinical encounter. This can facilitate conversations between health care providers, patients and families, and inform interventions and contribute to decision support mechanisms. The ascertainment of self-defined life quality, especially in progressive neurodegenerative conditions, mean health care professionals are in a better position to provide person-centred care.

Amyotrophic Lateral Sclerosis (ALS) is a fatal and currently incurable disease. Treatment is mostly palliative and focuses on improving the quality of life (QoL) of patients; knowledge of the determinants of QoL can have an impact on their care. The aim of this work is to identify which factors are related to QoL in ALS using two different metrics of a person’s overall QoL from the McGill QoL questionnaire. We used an ensemble of feature selection methods in order to reduce bias. We found differences in the predictors of the two scores, but caregiving duties of informal caregivers were among the most significant ones in both cases. Our future work will be the development of a Clinical Decision Support System for the prediction of QoL in ALS patients using the most important features from this study.

Aim: To examine how health system design and delivery can fail to support the needs of LGBT+ older adults. Background: LGBT+ older adults face barriers in access to care, impacting their ability to receive person-centred care in old age, which is central to the prevention and management of frailty, disability and disease. Evaluation: Using a conceptual framework of access to care, this commentary illustrates issues LGBT+ older adults may face in accessing health and social care services in Ireland, and provides examples of how access may be improved from the published international literature. Key issue(s): Health policies, service design and delivery all impact on the ability of the health system to meet the needs of LGBT+ older adults across all levels and types of care. Conclusion: Heteronormativity and discrimination must be addressed across the whole health system to achieve the health policy goal of supporting all older adults to enjoy health and well-being. Implications for nursing management: We suggest nursing professionals use a systems perspective to address the multilevel issues relating to care for LGBT+ older adults. Researchers in gerontological nursing should include the experiences and outcomes of service utilization for LGBT+ older adults in their research agenda.

Objective: Amyotrophic lateral sclerosis (ALS) has profound effects on people with ALS (PALS) and caregivers. There is a paucity of research detailing and comparing PALS and caregiver day-to-day perspectives of ALS. Methods: A survey developed collaboratively by The ALS Association and a panel of experts in ALS care was designed to broadly sample the experience of PALS and caregivers with respect to physical and emotional symptoms, the efficacy of treatment approaches, and goals for future treatments. Specific physical symptoms assessed consisted of fatigue, pain, weakness, shortness of breath, difficulty sleeping, speech problems, depression and other mood changes, and cognitive changes. PALS, caregivers of living patients with ALS (C-LPALS), and caregivers of deceased patients with ALS (C-DPALS) were contacted by email to participate in a 30-minute online survey. Results: 887 PALS, 444 C-LPALS, and 193 C-DPALS responded to the survey. In comparison to PALS, C-LPALS perceived that PALS had significantly higher rates of all surveyed symptoms except for pain and weakness. Caregivers self-reported higher stress levels than PALS (p p Conclusions: PALS and caregivers report a number of symptoms beyond weakness that affect daily life which may be targets of future interventions. There are opportunities to improve services and care for caregivers to reduce the burden of illness.

Amyotrophic Lateral Sclerosis (ALS), also known as Motor Neuron Disease (MND), is a rare and fatal neurodegenerative disease. As ALS is currently incurable, the aim of the treatment is mainly to alleviate symptoms and improve quality of life (QoL). We designed a prototype Clinical Decision Support System (CDSS) to alert clinicians when a person with ALS is experiencing low QoL in order to inform and personalise the support they receive. Explainability is important for the success of a CDSS and its acceptance by healthcare professionals. The aim of this work isto announce our prototype (C-ALS), supported by a first short evaluation of its explainability. Given the lack of similar studies and systems, this work is a valid proof-of-concept that will lead to future work. We developed a CDSS that was evaluated by members of the team of healthcare professionals that provide care to people with ALS in the ALS/MND Multidisciplinary Clinic in Dublin, Ireland. We conducted a user study where participants were asked to review the CDSS and complete a short survey with a focus on explainability. Healthcare professionals demonstrated some uncertainty in understanding the system’s output. Based on their feedback, we altered the explanation provided in the updated version of our CDSS. C-ALS provides local explanations of its predictions in a post-hoc manner, using SHAP (SHapley Additive exPlanations). The CDSS predicts the risk of low QoL in the form of a probability, a bar plot shows the feature importance for the specific prediction, along with some verbal guidelines on how to interpret the results. Additionally, we provide the option of a global explanation of the system’s function in the form of a bar plot showing the average importance of each feature. C-ALS is available online for academic use.

ObjectivesAmyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease that is characterised by the rapid degeneration of upper and lower motor neurons and has a fatal trajectory 3–4 years from symptom onset. Due to the nature of the condition patients with ALS require the assistance of informal caregivers whose task is demanding and can lead to high feelings of burden. This study aims to predict caregiver burden and identify related features using machine learning techniques.DesignThis included demographic and socioeconomic information, quality of life, anxiety and depression questionnaires, for patients and carers, resource use of patients and clinical information. The method used for prediction was the Random forest algorithm.Setting and participantsThis study investigates a cohort of 90 patients and their primary caregiver at three different time-points. The patients were attending the National ALS/Motor Neuron Disease Multidisciplinary Clinic at Beaumont Hospital, Dublin.ResultsThe caregiver’s quality of life and psychological distress were the most predictive features of burden (0.92 sensitivity and 0.78 specificity). The most predictive features for Clinical Decision Support model were associated with the weekly caregiving duties of the primary caregiver as well as their age and health and also the patient’s physical functioning and age of onset. However, this model had a lower sensitivity and specificity score (0.84 and 0.72, respectively). The ability of patients without gastrostomy to cut food and handle utensils was also highly predictive of burden in this study. Generally, our models are better in predicting the high-risk category, and we suggest that information related to the caregiver’s quality of life and psychological distress is required.ConclusionThis work demonstrates a proof of concept of an informatics solution to identifying caregivers at risk of burden that could be incorporated into future care pathways.

Objective: This study aims (1) to assess physicians’ attitudes toward different palliative end-of-life (EOL) practices in amyotrophic lateral sclerosis (ALS) care, including forgoing artificial nutrition and hydration (FANH), continuous sedation until death (CSD), and withdrawing invasive ventilation (WIV), and toward physician-assisted dying (PAD) including physician-assisted suicide and euthanasia and (2) to explore variables influencing these attitudes. Methods: We used two clinical vignettes depicting ALS patients in different stages of their disease progression to assess the influence of suffering (physical/psycho-existential) on attitudes toward WIV and the influence of suffering and prognosis (short-term/long-term) on attitudes toward FANH, CSD, and PAD. Results: 50 physicians from European ALS centers and neurological departments completed our survey. Short-term prognosis had a positive impact on attitudes toward offering FANH (p = 0.014) and CSD (p = 0.048) as well as on attitudes toward performing CSD (p = 0.036) and euthanasia (p = 0.023). Predominantly psycho-existential suffering was associated with a more favorable attitude toward WIV but influenced attitudes toward performing CSD negatively. Regression analysis showed that religiosity was associated with more reluctant attitudes toward palliative EOL practices and PAD, whereas training in palliative care was associated with more favorable attitudes toward palliative EOL practices only. Conclusion: ALS physicians seem to acknowledge psycho-existential suffering as a highly acceptable motive for WIV but not CSD. Physicians appear to be comfortable with responding to the patient’s requests, but more reluctant to assume a proactive role in the decision-making process. Palliative care training may support ALS physicians in these challenging situations.

IntroductionAmyotrophic lateral sclerosis (ALS) is a rapid and fatal motor disease marked by progressive physical impairment due to muscle weakness and wasting. It is multidimensional with many patients presenting with cognitive and/or behavioural impairment. Caregivers of patients with ALS, commonly non-paid immediate family members, often take primary responsibility for the complex care needs of patients in non-medicalised setting, and many as a consequence experience caregiver burden, anxiety, and/or depression.Methods and analysisThis randomised controlled trial (RCT) will use randomisation to allocate n=75 caregivers of patients with ALS from the national ALS clinic into three groups with an equal distribution. The RCT consists of two intervention groups and a wait list control (treatment as usual [TAU]) group. The intervention arms of the trial consist of a ‘mindfulness-based stress reduction’ and ‘building better caregivers’ manualised group-based intervention, with 9 and 6 weekly sessions, respectively. The TAU group will have access to intervention at the end of the trial period. Primary outcomes are self-report questionnaires on anxiety and depression symptoms, with caregiver burden and quality of life considered secondary outcomes. Assessment will commence at baseline, immediately following the intervention period, and after a period of 12 weeks to assess the effectiveness and efficacy of participating in an intervention. Patient cognitive and behavioural data will also be considered. Means of treatment and control groups at Time 0 and 1 will be analysed using mixed model multivariate analysis of variance followed by analysis of variance, and treatment effect-sizes will be calculated. This RCT protocol is pre-results and has been registered with an international database resulting in an International Standard Randomised Controlled Trials Number (ISRCTN53226941).Ethics and disseminationEthics approval was obtained from the Beaumont Hospital Medical Research Ethics Committee. Results of the main trial will be submitted for publication in a peer-reviewed journal.

Cognitive and behavioural changes are relatively common in patients with ALS, but often receive less emphasis than the loss of physical strength and function. There is extensive literature on the impact of cognitive and behavioural changes on Quality of Life (QoL) in caregivers and the patients themselves in a variety of other neurological conditions, the implications of which are directly applicable in many respects to ALS. Based on this information, a number of intervention strategies may be employed, including psycho-educational and psychotherapeutic interventions, group-based support services, cognitive stimulation/training, and multidisciplinary interventions, among others. Specific strategies can be used to manage cognitive and behavioural dysfunction in patients, and may serve to improve the QoL of patients and caregivers, while lessening caregiver burden.

Caregiver burden is a recognised consequence of caring for a patient with neurodegeneration. Amyotrophic lateral sclerosis (ALS) differs from other neurodegenerations by its rapid progression and impairment of motor, cognitive, and behavioural function, which contribute to caregiver burden. However, longitudinal factors that determine the extent of caregiver burden, and in particular the impact of psychological distress among caregivers, have not been fully established. Patients with ALS (n = 85) and their primary caregivers (n = 85) completed three serial evaluations. Caregiver burden was measured using the Zarit Burden Interview (ZBI). Anxiety and depression were evaluated using the Hospital Anxiety and Depression Scale (HADS). The Edinburgh Cognitive-Behavioural ALS Screen (ECAS) was used to determine cognitive function in patients. The ALS Functional Rating Scale (ALSFRS-R) measured disease progression. Using the ZBI, caregivers were categorised as high or low burden. In the low burden group, anxiety scores from the HADS predicted caregiver burden (r = 0.410, F = 3.73, p = 0.033), whereas the depression sub-score from the HADS was predictive of caregiver burden in the high burden group (r = 0.501, F = 5.87, p = 0.006) for cross-sectional analyses. Longitudinally, an elevated score on the HADS at Time 1 was the largest predictor of caregiver burden across serial assessments. In a patient cohort with relatively preserved cognitive function (65%), anxiety and depression at Time 1, as measured by the HADS, were the best predictors of caregiver burden at Time 3. This observation provides a mechanism by which caregiver burden can be identified by health-care professionals and a stepped care programme of intervention initiated.

Objectives Informal caregivers play an integral part in the management of amyotrophic lateral sclerosis (ALS). The objective of this study was to explore the journey from first problem symptoms to diagnosis from the perspective of informal caregivers providing care to people with ALS. Design As part of a semistructured interview, information was collected on a range of caregiver demographic details, and from an open-ended question their experiences of the time of symptom onset to diagnosis. We carried out descriptive statistical analysis and thematic analysis of qualitative data. Setting and participants Home interviews with informal caregivers (n=74) of people with ALS attending the National ALS/Motor Neuron Disease Clinic at Beaumont Hospital, Dublin, Ireland. Results This was a largely female and spousal cohort of caregivers, living with the patient for whom they provided informal care. The majority of patients were men and were spinal onset. Caregivers described the time from first symptoms to diagnosis. Using a primarily inductive approach, the coding was data driven and the codes and themes derived from the content of these descriptions. Two main themes were identified (1) problem signs and symptoms (A) noticing and (B) reaction; (2) interaction with the health services. Conclusions Exploring the perspectives of caregivers from first problem symptoms to diagnosis provides valuable insights into the development of the condition, impediments to its recognition, help-seeking behaviours and interactions with healthcare services. The journey from early symptoms to diagnosis is important for future decision-making, affects readiness for caregiving and could negatively impact on caregiver health and well-being. The early acknowledgement by healthcare professionals of stressors along the journey to diagnosis, and appreciation of their possible impact on caregivers is important. The separate needs of caregivers should be assessed on a regular basis.

Few studies in amyotrophic lateral sclerosis (ALS) have profiled disease-specific features of the condition in conjunction with assessment of caregivers’ burden, distress, quality of life, and investigated patient survival. Eighty-four ALS patients and their primary caregivers were enrolled. Patients completed ALS-specific measures of physical and cognitive function, while caregivers completed measures of anxiety, depression, caregiver burden, and quality of life. Patient-caregiver dyads were interviewed about their health-service utilisation. Survival data were obtained through the Irish register for ALS. Participants were dichotomised into low/high groups according to the severity of self-reported caregiver burden, based on statistically derived cut-off scores. High-burdened caregivers (n = 43) did not significantly differ from low-burdened caregivers (n = 41) with respect to disease-specific characteristics, i.e., ALSFRS-R, bulbar- or spinal-onset ALS, disease duration, or survival data. However, significant differences were reported on subjective measures of anxiety (p

Background Amyotrophic Lateral Sclerosis (ALS) is a devastating neurological condition that requires coordinated, multidisciplinary clinical management. ALS is prone to misdiagnosis as its signs and symptoms may be non-specific, which may prolong patients’ journey to multidisciplinary ALS care. Methods Using chart review and national register data, we have detailed the journey of a national cohort of ALS patients (n = 155) from the time of first symptom to presentation at a multidisciplinary clinic (MDC). Key milestones were analysed, including frequency of consultations, clinical interventions, and associated economic cost. Results A majority of patients was male (60%), 65 years of age and over (54%), and had spinal onset ALS (72%). Time from onset of first symptoms to ALS diagnosis was a mean of 15.1 months (median, 11). There was a mean interval of 17.4 months (median 12.5) from first symptoms to arrival at the MDC, and a mean of 4.09 (median, 4) consultations with health care professionals. Electromyography and nerve conduction studies were among the most common interventions. Direct referral by a general practitioner (GP) to a neurologist was associated with reduced cost, but not reduced diagnostic delay. Bulbar ALS was associated with shorter time from symptom onset to diagnosis. Neurologist consultation in the first three consultations was associated with lower costs prior to the ALS clinic attendance but not a shorter time from first symptom to final diagnosis. Mean cost prior to attending the MDC was €3,486 per patient. Conclusions Expedited referral to the multidisciplinary ALS clinic would have reduced costs by an estimated €2,072 per patient. Development of a standardised pathway with early referral to neurology of patients with suspected symptoms of ALS could limit unnecessary interventions and reduce cost of care.

Variations in environmental risk factors potentially influence incidence and progression in complex multifactorial diseases. Few studies have examined the association of survival in amyotrophic lateral sclerosis (ALS) with environmental geospatial variables. Here we use data from the Irish ALS cohort to perform such an analysis. Geographic data sources were used to generate small area values for four geospatial variables (population density, social deprivation, distance to coast, and distance to ALS multidisciplinary (MDT) clinic) for each ALS case on the Irish ALS register. These were combined with follow-up data and used as covariates in Royston-Parmar regression survival analysis including age of onset, site of onset, diagnostic delay, riluzole prescription and MDT clinic attendance as covariates. One thousand, two hundred and thirty-two patients with median survival of 2.31 years from disease onset were included. After addition of the individual geospatial variables in turn, none of the four variables was found to be associated with survival with a p-value0.05. The results may reflect the public healthcare system that provides riluzole prescription and access to the MDT to all patients free of charge, and is also congruent with our recent finding that social deprivation is not associated with ALS incidence in Ireland.

Background Caregiver burden affects the physical, psychological and emotional well-being of the caregiver. The purpose of this analysis was to describe an informal caregiver cohort (n = 81), their subjective assessment of burden and difficulties experienced as a result of providing care to people with Amyotrophic Lateral Sclerosis (ALS). Methods Using mixed methods of data collection and analysis, we undertook a comprehensive assessment of burden and difficulties associated with informal caregiving in ALS. As part of a semi-structured interview a series of standardised measures were used to assess quality of life, psychological distress and subjective burden, and in an open-ended question caregivers were asked to identify difficult aspects of their caregiving experience. Results The quantitative data show that psychological distress, hours of care provided and lower quality of life, were significant predictors of caregiver burden. From the qualitative data, the caregiving difficulties were thematised around managing the practicalities of the ALS condition, the emotional and psychosocial impact; limitation and restriction, and impact on relationships. Conclusions The collection and analysis of quantitative and qualitative data better explores the complexity of caregiver burden in ALS. Understanding the components of burden and the difficulties experienced as a result of caring for someone with ALS allows for better supporting the caregiver, and assessing the impact of burden on the care recipient. Electronic supplementary material The online version of this article (doi:10.1186/s12904-016-0153-0) contains supplementary material, which is available to authorized users.

Summary Most health-care professionals are trained to promote and maintain life and often have difficulty when faced with the often rapid decline and death of people with terminal illnesses such as amyotrophic lateral sclerosis (ALS). By contrast, data suggest that early and open discussion of end-of-life issues with patients and families allows time for reflection and planning, can obviate the introduction of unwanted interventions or procedures, can provide reassurance, and can alleviate fear. Patients' perspectives regarding end-of-life interventions and use of technologies might differ from those of the health professionals involved in their care, and health-care professionals should recognise this and respect the patient's autonomy. Advance care directives can preserve autonomy, but their legal validity and use varies between countries. Clinical management of the end of life should aim to maximise quality of life of both the patient and caregiver and, when possible, incorporate appropriate palliation of distressing physical, psychosocial, and existential distress. Training of health-care professionals should include the development of communication skills that help to sensitively manage the inevitability of death. The emotional burden for health-care professionals caring for people with terminal neurological disease should be recognised, with structures and procedures developed to address compassion, fatigue, and the moral and ethical challenges related to providing end-of-life care.

The objective of the study was to investigate whether cognitive and behavioural impairment in Amyotrophic Lateral Sclerosis (ALS) contributes to caregiver burden, and whether carer burden affects patient outcome. Thirty-three dyads of incident patients with ALS and their primary caregivers (n = 33) completed a series of measures to determine cognitive and behavioural profiles, (patients) and carer burden (carers) to investigate the psychological impact of ALS, and the impact of behavioural change since the onset of ALS. Caregivers were divided into high- and low-burden groups using previously established norms. High burden in carers was associated with significantly higher apathy (p = 0.009), disinhibition (p = 0.005), and executive dysfunction (p = 0.015) in patients. Regression analyses for burden confirmed significant predictors such as change in apathy (r = 0.390, F = 5.19, p = 0.03), disinhibition (r = 0.530, F = 11.32, p = 0.002), and executive dysfunction (r = 0.372, F = 4.66, p = 0.039), with total behaviour change contributing to 31 % of caregiver burden (r = 0.563, F = 4.17, p = 0.015). Total distress as measured by the Hospital Anxiety and Depression Scale was also a significant predictor of caregiver burden, contributing to 38.5 % of variance (r = 0.621, F = 18.79, p < 0.000). Caregiver burden did not affect survival (p = 0.496). Caregiver burden in ALS is modulated by patient's cognitive and behavioural status, but does not significantly impact patient survival.

Background The multidisciplinary approach in the management of Amyotrophic Lateral Sclerosis (ALS) has been shown to provide superior care to devolved care, with better survival, improved quality of care, and quality of life. Access to expert multidisciplinary management should be a standard for patients with ALS. This analysis explores the patient journey from symptom onset and first engagement with health services, to the initial visit to a specialist ALS Multidisciplinary Clinic (MDC) in Dublin, Ireland. Methods A retrospective exploratory multi-method study details the patient journey to the MDC. Data from medical interviews and systematic chart review identifies interactions with the health services and key timelines for thirty five new patients presenting with a diagnosis of ALS during a 6 month period in 2013. Results The time from first symptom to diagnosis was a mean of 16 months (median 13 months), with a mean interval of 19 months (median 14.6) from first symptoms to arrival at the MDC. The majority of patients were seen by a general practitioner, and subsequently by neurology services. There was an average of four contacts with health services and 4.8 investigations/tests, prior to their first Clinic visit. On the first visit to the MDC patients are linked into an integrated ‘system’ that can provide specialist care and link with voluntary, palliative and community services as required. Conclusions Engagement with a multidisciplinary team has implications for service utilization and quality of life of patients and their families. We have demonstrated that barriers exist that delay referral to specialist services. Comprehensive data recording and collection, using multiple data sources can reconstruct the timelines of the patient journey, which can in turn be used to identify pathways that can expedite early referral to specialist services.