Diaphragm pacing and motor neurone disease: lessons for all?
Ontology highlight
ABSTRACT:
SUBMITTER: Elliott MW
PROVIDER: S-EPMC5005125 | biostudies-other | 2015 Oct
REPOSITORIES: biostudies-other
Publications
Diaphragm pacing and motor neurone disease: lessons for all?
ERJ open research 20151001 2
<b>Respiratory physicians and neurologists should be cognisant of the respiratory complications of motor neurone disease</b> http://ow.ly/TIxe5. ...[more]
Similar Datasets
Project description:OBJECTIVES:Gastrostomy decision making is a complicated, multifaceted process for people with motor neuron disease (MND). This study explored demographic and disease-related factors that may impact on gastrostomy uptake; and reasons why people with MND accepted or declined gastrostomy, with a focus on how perceptions of swallowing and nutrition may influence decision making. DESIGN:Prospective, cross sectional, mixed methods. SETTING:An Australian multidisciplinary, specialty MND Service. PARTICIPANTS:33 patients were recommended gastrostomy by the treating medical specialist. 16 of 33 were invited to participate in the prospective decision making study; of whom 10 provided informed consent. PRIMARY AND SECONDARY OUTCOME MEASURES:Demographic and disease-related factors contributing to uptake are described. A stepped approach was applied to gain a comprehensive understanding of why people with MND accept or decline gastrostomy. Instruments included standardised assessments, nutrition survey and semistructured interview. Data were collected at three separate appointments, spanning a 3-week period. RESULTS:Gastrostomy uptake was 73% following medical specialist recommendation. Participants took days, weeks or months to consider their preferences, with lengthy hospital waiting times for the procedure. Gender, site of onset and rate of disease progression were observed to contribute to uptake. Age and symptom duration did not. Integration of quantitative and qualitative data suggests that patient perceptions of swallowing and nutrition contribute to gastrostomy acceptance; however, the decision making process is heterogeneous and these factors may not be the sole or primary reasons for acceptance. Other reported factors included: reducing carer burden, improving quality of life, increasing independence, continuing participation in social outings and gaining control. CONCLUSIONS:Future research may give greater insight into how healthcare organisations can better facilitate gastrostomy decision making, to meet the needs of people living with MND. Larger, prospective, multisite studies may build on these findings to better inform clinical guidelines and minimise the impacts of delayed gastrostomy insertion.
| S-EPMC7045239 | biostudies-literature
Project description:BackgroundMotor neurone disease (MND) is a rare neurodegenerative condition, with poorly understood aetiology. Large, population-based, prospective cohorts will enable powerful studies of the determinants of MND, provided identification of disease cases is sufficiently accurate. Follow-up in many such studies relies on linkage to routinely-collected health datasets. We systematically evaluated the accuracy of such datasets in identifying MND cases.MethodsWe performed an electronic search of MEDLINE, EMBASE, Cochrane Library and Web of Science for studies published between 01/01/1990-16/11/2015 that compared MND cases identified in routinely-collected, coded datasets to a reference standard. We recorded study characteristics and two key measures of diagnostic accuracy-positive predictive value (PPV) and sensitivity. We conducted descriptive analyses and quality assessments of included studies.ResultsThirteen eligible studies provided 13 estimates of PPV and five estimates of sensitivity. Twelve studies assessed hospital and/or death certificate-derived datasets; one evaluated a primary care dataset. All studies were from high income countries (UK, Europe, USA, Hong Kong). Study methods varied widely, but quality was generally good. PPV estimates ranged from 55-92% and sensitivities from 75-93%. The single (UK-based) study of primary care data reported a PPV of 85%.ConclusionsDiagnostic accuracy of routinely-collected health datasets is likely to be sufficient for identifying cases of MND in large-scale prospective epidemiological studies in high income country settings. Primary care datasets, particularly from countries with a widely-accessible national healthcare system, are potentially valuable data sources warranting further investigation.
| S-EPMC5330471 | biostudies-literature
Project description:PurposePatients with respiratory failure associated with neurological dysfunction often require mechanical ventilator support, which poses increased economic burden and ventilator-associated complications. A diaphragm pacing system (DPS) is an implanted device that provides respiratory support for such patients. In this systematic review, we reviewed the literature to assess the safety and efficacy of DPS for patients with respiratory failure resulting from amyotrophic lateral sclerosis (ALS) or cervical spinal cord injuries.Materials and methodsThe following databases were searched from July 10 to July 30, 2018: MEDLINE, EMBASE, Cochran library, KoreaMed, Research Information Sharing Service, Korean studies Information Service System, Korea Institute of Science and Technology Information, and Korean Medical database. The abstracts and full texts of the searched articles were reviewed by two reviewers.ResultsThe search keywords generated 197 articles: two randomized controlled trials, two case-control studies, and one case report involving patients with ALS; one cohort study, one case-control study, and two case reports involving patients with cervical spine injury; and one case report involving patients with both conditions were included. The primary outcome was safety profile (complications and adverse event) and efficacy (overall survival and sleep improvement). Complications and adverse events were more common in patients with ALS and spinal cord injury receiving DPS than in controls. Efficacy outcomes were inconsistent across ALS studies.ConclusionBased on safety and efficacy results, we do not support using DPS to manage respiratory failure in patients with ALS or cervical spine injury.
| S-EPMC7700882 | biostudies-literature
Project description:BACKGROUND: Motor neurone disease (MND) practice guidelines suggest developing interventions that will promote hope, meaning, and dignity to alleviate psychological distress, but very little research has been done. This study begins to address this need by exploring the use of dignity therapy with people with MND. Dignity therapy is a brief psychotherapy that promotes hope, meaning and dignity, and enhances the end of life for people with advanced cancer. The aims of this study are to assess the feasibility, acceptability, and potential effectiveness of dignity therapy for people with MND. METHODS/DESIGN: This cross-sectional feasibility study used a one-group pre-test post-test design with 29 people diagnosed with MND. Study participants completed the following self-report questionnaires: Herth Hope Index, FACIT-sp, Patient Dignity Inventory, ALS Assessment Questionnaire, ALS Cognitive Behavioural Screen, and a demographic and health history questionnaire. Acceptability was measured with a 25-item feedback questionnaire. Feasibility was assessed by examining the length of time taken to complete dignity therapy and how symptoms common in MND affected the intervention. Generalised linear mixed models and reliable change scores were used to analyse the data. RESULTS: There were no significant pre-test post-test changes for hopefulness, spirituality or dignity on the group level, but there were changes in hopefulness on the individual level. The results of the feedback questionnaire indicates dignity therapy is highly acceptable to people with MND, who report benefits similar to those in the international randomised controlled trial on dignity therapy, a population who primarily had end-stage cancer. Benefits include better family relationships, improved sense of self and greater acceptance. Dignity therapy with people with MND is feasible if the therapist can overcome time and communication difficulties. CONCLUSIONS: Dignity therapy for people with MND is feasible and acceptable. Further research is warranted to explore its ability to diminish distress. TRIAL REGISTRATION: www.anzctr.org.au ACTRN12611000410954.
| S-EPMC4016138 | biostudies-other
Project description:BACKGROUND:Internationally, it is widely accepted that holistic care is as an integral part of the care for people with motor neurone disease (MND), and their informal carers. However the optimal role of generalist and specialist palliative care, and how it integrates with specialist neurology services, is not fully established. Using a qualitative approach we sought to examine end of life care for people with MND in Northern Ireland, and the role of specialist and generalist palliative care. METHODS:Qualitative study involving a convenience sample of 13 bereaved carers recruited using the Northern Ireland MND Register. Data collection consisted of semi-structured interviews with the bereaved carers of patients who had died 3-24 months previously with a diagnosis of MND. Data were analysed using thematic analysis. RESULTS:Findings illuminated variations in relation to the levels of holistic care provided to this cohort of patients. Unmanaged respiratory and psychological symptoms caused perceived distress amongst patients. Participants' experiences additionally highlighted reluctance amongst patients with MND to engage with services such as specialist palliative care. Conversely, for those who received input from specialist palliative care services carers portrayed these services to be of great benefit to the patient. CONCLUSIONS:Patients with MND in Northern Ireland may have many unmet holistic care needs. Key areas that require particular focus in terms of service development include neuromuscular respiratory physiotherapy and psychological services for patients. Future research must explore an optimal model of holistic care delivery for patients with MND and how this can be effectively integrated to best meet this patient cohorts palliative care needs.
| S-EPMC6486679 | biostudies-other
Project description:Background and purposeCervical spinal cord injury (CSCI) can cause severe respiratory impairment. Although mechanical ventilation (MV) is a lifesaving standard of care for these patients, it is associated with diaphragm atrophy and dysfunction. Diaphragm pacing (DP) is a strategy now used acutely to promote MV weaning and to combat the associated negative effects. Initial reports indicate that DP also may promote neuromuscular plasticity and lead to improvements in spontaneous diaphragm activation and respiratory function. These outcomes suggest the need for reevaluation of respiratory rehabilitation for patients with CSCI using DP and consideration of new rehabilitation models for these patients and their unique care needs.Summary of key pointsThis article discusses the rationale for consideration of DP as a rehabilitative strategy, particularly when used in combination with established respiratory interventions. In addition, a model of respiratory rehabilitation and recovery (RRR) is presented, providing a framework for rehabilitation and consideration of DP as an adjuvant rehabilitation approach. The model promotes goals such as respiratory recovery and independence, and lifelong respiratory health, via interdisciplinary care, respiratory training, quantitative measurement, and use of adjuvant strategies such as DP. Application of the model is demonstrated through a description of an inpatient rehabilitation program that applies model components to patients with CSCI who require DP.Recommendations for clinical practiceAs DP use increases for patients with acute CSCI, so does the need and opportunity to advance rehabilitation approaches for these patients. This perspective article is a critical step in addressing this need and motivating the advancement of rehabilitation strategies for CSCI patients. (See Video Abstract, Supplemental Digital Content, available at: http://links.lww.com/JNPT/A348).
| S-EPMC8711094 | biostudies-literature
Project description:Amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS) are two syndromic variants within the motor neurone disease spectrum. As PLS and most ALS cases are sporadic (SALS), this limits the availability of cellular models for investigating pathogenic mechanisms and therapeutic targets. The aim of this study was to use gene expression profiling to evaluate fibroblasts as cellular models for SALS and PLS, to establish whether dysregulated biological processes recapitulate those seen in the central nervous system and to elucidate pathways that distinguish the clinically defined variants of SALS and PLS.Microarray analysis was performed on fibroblast RNA and differentially expressed genes identified. Genes in enriched biological pathways were validated by quantitative PCR and functional assays performed to establish the effect of altered RNA levels on the cellular processes.Gene expression profiling demonstrated that whilst there were many differentially expressed genes in common between SALS and PLS fibroblasts, there were many more expressed specifically in the SALS fibroblasts, including those involved in RNA processing and the stress response. Functional analysis of the fibroblasts confirmed a significant decrease in miRNA production and a reduced response to hypoxia in SALS fibroblasts. Furthermore, metabolic gene changes seen in SALS, many of which were also evident in PLS fibroblasts, resulted in dysfunctional cellular respiration.The data demonstrate that fibroblasts can act as cellular models for ALS and PLS, by establishing the transcriptional changes in known pathogenic pathways that confer subsequent functional effects and potentially highlight targets for therapeutic intervention.
| S-EPMC4329387 | biostudies-literature
Project description:Diagnosis of motor neurone disease (MND) includes detection of small, involuntary muscle excitations, termed fasciculations. There is need to improve diagnosis and monitoring of MND through provision of objective markers of change. Fasciculations are visible in ultrasound image sequences. However, few approaches that objectively measure their occurrence have been proposed; their performance has been evaluated in only a few muscles; and their agreement with the clinical gold standard for fasciculation detection, intramuscular electromyography, has not been tested. We present a new application of adaptive foreground detection using a Gaussian mixture model (GMM), evaluating its accuracy across five skeletal muscles in healthy and MND-affected participants. The GMM provided good to excellent accuracy with the electromyography ground truth (80.17%-92.01%) and was robust to different ultrasound probe orientations. The GMM provides objective measurement of fasciculations in each of the body segments necessary for MND diagnosis and hence could provide a new, clinically relevant disease marker.
| S-EPMC6481588 | biostudies-literature
Project description:A hexanucleotide (GGGGCC) expansion in C9ORF72 gene is the most common genetic change seen in familial Frontotemporal Lobar Degeneration (FTLD) and familial Motor Neurone Disease (MND). Pathologically, expansion bearers show characteristic p62 positive, TDP-43 negative inclusion bodies within cerebellar and hippocampal neurons which also contain dipeptide repeat proteins (DPR) formed from sense and antisense RAN (repeat associated non ATG-initiated) translation of the expanded repeat region itself. 'Inappropriate' formation, and aggregation, of DPR might therefore confer neurotoxicity and influence clinical phenotype. Consequently, we compared the topographic brain distribution of DPR in 8 patients with Frontotemporal dementia (FTD), 6 with FTD?+?MND and 7 with MND alone (all 21 patients bearing expansions in C9ORF72) using a polyclonal antibody to poly-GA, and related this to the extent of TDP-43 pathology in key regions of cerebral cortex and hippocampus. There were no significant differences in either the pattern or severity of brain distribution of DPR between FTD, FTD?+?MND and MND groups, nor was there any relationship between the distribution of DPR and TDP-43 pathologies in expansion bearers. Likewise, there were no significant differences in the extent of TDP-43 pathology between FTLD patients bearing an expansion in C9ORF72 and non-bearers of the expansion. There were no association between the extent of DPR pathology and TMEM106B or APOE genotypes. However, there was a negative correlation between the extent of DPR pathology and age at onset. Present findings therefore suggest that although the presence and topographic distribution of DPR may be of diagnostic relevance in patients bearing expansion in C9ORF72 this has no bearing on the determination of clinical phenotype. Because TDP-43 pathologies are similar in bearers and non-bearers of the expansion, the expansion may act as a major genetic risk factor for FTLD and MND by rendering the brain highly vulnerable to those very same factors which generate FTLD and MND in sporadic disease.
| S-EPMC4229740 | biostudies-literature
Project description:BackgroundThe objective of this research was to develop a disease-specific measure for fatigue in patients with motor neurone disease (MND) by generating data that would fit the Rasch measurement model. Fatigue was defined as reversible motor weakness and whole-body tiredness that was predominantly brought on by muscular exertion and was partially relieved by rest.MethodsQualitative interviews were undertaken to confirm the suitability of a previously identified set of 52 neurological fatigue items as relevant to patients with MND. Patients were recruited from five U.K. MND clinics. Questionnaires were administered during clinic or by post. A sub-sample of patients completed the questionnaire again after 2-4 weeks to assess test-retest validity. Exploratory factor analyses and Rasch analysis were conducted on the item set.ResultsQualitative interviews with ten MND patients confirmed the suitability of 52 previously identified neurological fatigue items as relevant to patients with MND. 298 patients consented to completing the initial questionnaire including this item set, with an additional 78 patients completing the questionnaire a second time after 4-6 weeks. Exploratory Factor Analysis identified five potential subscales that could be conceptualised as representing: 'Energy', 'Reversible muscular weakness' (shortened to 'Weakness'), 'Concentration', 'Effects of heat' and 'Rest'. Of the original five factors, two factors 'Energy' and 'Weakness' met the expectations of the Rasch model. A higher order fatigue summary scale, consisting of items from the 'Energy' and 'Weakness' subscales, was found to fit the Rasch model and have acceptable unidimensionality. The two scales and the higher order summary scale were shown to fulfil model expectations, including assumptions of unidimensionality, local independency and an absence of differential item functioning.ConclusionsThe Neurological Fatigue Index for MND (NFI-MND) is a simple, easy-to-administer fatigue scale. It consists of an 8-item fatigue summary scale in addition to separate scales for measuring fatigue experienced as reversible muscular weakness and fatigue expressed as feelings of low energy and whole body tiredness. The underlying two factor structure supports the patient concept of fatigue derived from qualitative interviews in this population. All three scales were shown to be reliable and capable of interval level measurement.
| S-EPMC3282643 | biostudies-literature