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The evidence base for diagnosis and management of ALS is still weak, and curative therapy is lacking. Nonetheless, early diagnosis and symptomatic therapy can profoundly influence care and quality of life of the patient and relatives, and may increase survival time. This review addresses the current optimal clinical approach to ALS. The literature...
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Amyotrophic lateral sclerosis (ALS) is a chronic neurodegenerative disorder characterized by upper and lower motor neurons death, the diagnosis remains in clinical basis. Clinical criteria El Escorial for its diagnosis were published in 1994, the revised criteria in 2000 and modified by the Awaji criteria in 2008 to integrate electrophysiological d...
Purpose:
Multidisciplinary care has become the preferred model of care for patients with amyotrophic lateral sclerosis (ALS). It is assumed that the sum of interventions associated with this approach has a positive effect on survival. The objective of the study was to evaluate the impact of a multidisciplinary care approach on the survival of pati...
Background and Objectives
Reduced mobility in patients with amyotrophic lateral sclerosis (ALS) is hypothesized to increase the risk of venous thromboembolism (VTE). A few small, single-center studies have investigated the risk of VTE in patients with ALS. Given the high morbidity and mortality associated with VTE, further understanding of the risk...
Citations
... Nowadays, guidelines recommend ALS patients with malnutrition (weight loss over 10%), mealtime duration over 45 minutes, and repeated aspirations to receive gastrostomy in order to keep sufficient nutrition [5,8,24,25]. However, most ALS patients would be unwilling to accept the gastrostomy procedure, especially patients experiencing only mild dysphagia with weight loss and simply slow eating. ...
Objectives. Tube feeding is an effective way to provide nutritional support for amyotrophic lateral sclerosis (ALS) patients with severe dysphagia. Currently, the predictors of tube feeding and the survival affected by tube feeding were poorly studied in Chinese ALS patients. Therefore, we aimed to explore predictive factors and establish a prediction model to quantitatively predict the risk of tube feeding. Furthermore, we explored the survival benefit provided by tube feeding. Methods. In this longitudinal, prospective cohort study, we included patients diagnosed with ALS using the Awaji criteria at the ALS clinic in Huashan Hospital. Follow-up was conducted by telephone interview from January 1, 2019, to December 30, 2021, or until death. All statistical analyses were performed using R software. Results. Overall, 218 patients were recruited for the study. The multivariate Cox regression analysis showed a high ALSFRS-R slope (adjusted hazard ratio aHR = 4.94 (95% confidence interval (95% CI: 2.26-10.81), p < 0.001 ), low bulbar score ( aHR = 0.81 (95% CI: 0.69-0.96), p = 0.01 ), history of ischemic stroke ( aHR = 5.69 (95% CI: 1.3-24.82), p = 0.02 ), and bulbar involvement ( aHR = 11.87 (95% CI: 1.42-99.31), p = 0.02 ) as independent risk factors of tube feeding. The nomogram model was established with moderate discrimination and calibration. Among 71 ALS patients with tube feeding indication, 33.8% accepted gastrostomy suggestion and 14.1% had nasogastric tube (NGT) insertion. However, gastrostomy and NGT did not accelerate disease progression ( aHR = 0.57 (95% CI: 0.20-1.67), p = 0.31 and aHR = 1.72 (95% CI: 0.43-6.88), p = 0.43 , respectively). Conclusions. We developed a nomogram that could be a prediction tool to predict individual timing of tube feeding for ALS patients. In addition, we found that gastrostomy and NGT did not affect ALS patients’ survival.
... These findings confirm results from previous smaller studies. Although current clinical guidelines for the management of ALS do not recommend prophylaxis for VTE, 18,19 the need for increased awareness and monitoring or screening for VTE risk in patients with ALS has been suggested. 4,20 This information may also be relevant in ...
Background and Objectives
Reduced mobility in patients with amyotrophic lateral sclerosis (ALS) is hypothesized to increase the risk of venous thromboembolism (VTE). A few small, single-center studies have investigated the risk of VTE in patients with ALS. Given the high morbidity and mortality associated with VTE, further understanding of the risk in patients with ALS may inform clinical care. The objective of this study was to investigate the incidence of VTE in patients with ALS compared with controls without ALS.
Methods
Patients were identified from a US health insurance claims database, Optum's deidentified Clinformatics Data Mart Database, between 2004 and 2019. ALS cases were defined as patients aged 18 years or older with (1) 2 or more ALS claims at least 27 days apart including at least 1 claim from a neurologist visit or (2) 1 or more ALS claims and a prescription for riluzole or edaravone. Each ALS case was matched on age and sex to 5 controls without ALS. VTE was defined as at least 1 claim for VTE and at least 1 anticoagulant prescription or VTE-related procedure within 7 days before and 30 days after a VTE claim date. Incidence rates were reported per 1,000 person-years. Hazard ratios (HRs) and 95% confidence intervals (CIs) were estimated using the Cox proportional hazards model.
Results
Among 4,205 ALS cases and 21,025 controls, incident VTE occurred in 132 ALS cases (3.1%) and 244 controls (1.2%). Incidence rates of VTE were 19.9 per 1,000 person-years (95% CI 16.7–23.6) in ALS cases compared with 6.0 per 1,000 person-years (95% CI 5.0–7.1) in controls. ALS cases were about 3 times more likely to develop VTE (HR 3.3, 95% CI 2.6–4.0), with similar results among men and women. The median time to first VTE was 10 months from the initial ALS claim in ALS cases.
Discussion
Consistent with previous smaller studies, a higher incidence rate of VTE was observed in a large sample of patients with ALS from across the United States, as compared to matched controls. The markedly increased risk underscores the importance of preventive efforts and careful monitoring for VTE in patients with ALS and may have implications for the management of ALS.
... While the evidence for optimal timing of NIV is limited (17), early focus on respiratory function enables time for patients/carers to be optimised physically and practically (18). Patients need to understand the trajectory of their disease and their options in order to make the "right decision" at the "right time" (19). ...
Objective
Non-invasive ventilation (NIV) improves survival and quality of life in motor neuron disease (MND), but many patients fail to receive effective ventilation. This study aimed to map the respiratory clinical care for MND patients at a service and individual healthcare professional (HCP) level to understand where attention may be needed to ensure all patients receive optimal care.
Methods
Two online surveys of HCPs working with MND patients in the UK were conducted. Survey 1 targeted HCPs providing specialist MND care. Survey 2 targeted HCPs working in respiratory/ventilation services and community teams. Data were analysed using descriptive and inferential statistics.
Results
Responses from 55 HCPs providing specialist MND care who worked at 21 MND care centres and networks and 13 Scotland Health Boards were analysed from Survey 1. Responses from 85 HCPs from respiratory/ventilation services and 73 HCPs from community teams, representing 97 services were analysed from Survey 2.
Significant differences in practice were identified at each stage of the respiratory care pathway as well as evidence of the need for improvement. This included when patients were referred to respiratory services, the time taken waiting to commence NIV, the availability of sufficient NIV equipment and provision of services, particularly out of hours.
Conclusion
We have highlighted significant disparity in MND respiratory care practices. Increased awareness of the factors that influence NIV success and the performance of individuals and services is important for optimal practice.
... Hay trabajos en los que se observa que los pacientes atendidos por equipos multidisciplinares mejoran en calidad de vida, más dudoso es el aumento de la supervivencia [7][8][9][10] .En una revisión Cochrane sobre atención multidisciplinaria se destacaba como limitación en los estudios incluidos que la prestación de los cuidados paliativos se abordó mal en general y que en la unidad multidisciplinar no se incluía un médico de cuidados paliativos, así como que se debería definir mejor la coordinación entre los servicios de neurología, rehabilitación y cuidados paliativos 11 . Así pues, los cuidados paliativos deberían estar integrados en los equipos multidisciplinares de ELA, tal y como mencionan las diferentes guías clínicas sobre la enfermedad [12][13][14] . ...
Antecedentes y objetivo: Pocos estudios describen el final de la vida de los pacientes con esclerosis lateral amiotrófica (ELA). Nuestro objetivo principal fue describir la trayectoria final de vida de pacientes con ELA seguidos por un equipo de soporte cuidados paliativos domiciliario (equipo de soporte de atención paliativa domiciliaria [ESAPD]). El objetivo secundario fue examinar los factores asociados con el lugar de muerte y supervivencia.
Ámbito y diseño: Estudio observacional retrospectivo en una cohorte de pacientes diagnosticados con ELA y seguido por un ESAPD. Se analizaron variables sociodemográficas, la supervivencia desde el inicio de la ventilación, supervivencia desde el inicio de la gastrostomía, consumo de recursos sanitarios, uso de opioides, planificación anticipada de decisiones (PAD), lugar de muerte y causa de muerte.
Resultados: Se incluyeron 60 pacientes. Los principales síntomas fueron disnea y disfagia. La PAD fue trabajada en el 83 % de los pacientes. Cincuenta y dos (83 %) pacientes murieron en domicilio o en una unidad de cuidados paliativos. Se requirieron opioides durante las últimas 24 h en el 47 % de los pacientes. La causa de muerte fue por insuficiencia respiratoria, infección respiratoria, muerte durante el sueño y rechazo del tratamiento para el 47, 16, 15 y 15 % respectivamente. El 25 % requirieron sedación paliativa. La supervivencia media desde el inicio de la alimentación enteral, la ventilación mecánica no invasiva y la ventilación invasiva fue de 7, 13 y 12 meses, respectivamente. El número promedio de visitas del ESADP fue de 14 (DE: 12). Haber recibido información y no haber sido ingresado en el hospital durante el periodo de estudio se asoció con un aumento significativo de la probabilidad de morir en el domicilio.
Conclusiones: La causa de muerte más frecuente fue la insuficiencia respiratoria, que en la mayoría de los casos requirió tratamiento con opioides. Uno de cada 4 pacientes requirió sedación paliativa. La mayoría de los pacientes con ELA fallecieron en domicilio.
... Experimental design. The wild-type (WT) and SOD1-G93A (mSOD1) mice were injected in the lumbar spinal cord [31] at the early symptomatic stage (12-week-old), either with the MN medium (vehicle, control group) or with the secretome from anti-miR-124-treated mSOD1 MNs (only the mSOD1 mice). Two weeks later, animals were behaviourally characterized through footprint, hanging wire, cylinder, clasping, and grasping tests. ...
... Two weeks later, animals were behaviourally characterized through footprint, hanging wire, cylinder, clasping, and grasping tests. At 15 weeks of age, the animals were sacrificed, and the lumbar spinal cord [31] and gastrocnemius muscle were isolated for histological and immunohistological analysis, as well as for reverse transcription quantitative real-time polymerase chain reaction (RT-qPCR) and western blot evaluations. This Figure was partially created with Servier Medical Art (smart.servier.com). ...
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with short life expectancy and no effective therapy. We previously identified upregulated miR-124 in NSC-34-motor neurons (MNs) expressing human SOD1-G93A (mSOD1) and established its implication in mSOD1 MN degeneration and glial cell activation. When anti-miR-124-treated mSOD1 MN (preconditioned) secretome was incubated in spinal cord organotypic cultures from symptomatic mSOD1 mice, the dysregulated homeostatic balance was circumvented. To decipher the therapeutic potential of such preconditioned secretome, we intrathecally injected it in mSOD1 mice at the early stage of the disease (12-week-old). Preconditioned secretome prevented motor impairment and was effective in counteracting muscle atrophy, glial reactivity/dysfunction, and the neurodegeneration of the symptomatic mSOD1 mice. Deficits in corticospinal function and gait abnormalities were precluded, and the loss of gastrocnemius muscle fiber area was avoided. At the molecular level, the preconditioned secretome enhanced NeuN mRNA/protein expression levels and the PSD-95/TREM2/IL-10/arginase 1/MBP/PLP genes, thus avoiding the neuronal/glial cell dysregulation that characterizes ALS mice. It also prevented upregulated GFAP/Cx43/S100B/vimentin and inflammatory-associated miRNAs, specifically miR-146a/miR-155/miR-21, which are displayed by symptomatic animals. Collectively, our study highlights the intrathecal administration of the secretome from anti-miR-124-treated mSOD1 MNs as a therapeutic strategy for halting/delaying disease progression in an ALS mouse model.
... Upper motor neurons degeneration leads to an increased muscle stiffness (spasticity) and impaired fine movements. Lower motor neurons degeneration leads to wasting and weakness, often with prominent muscle twitching (fasciculations) and reduced or absent deep tendon reflexes (Andersen, Borasio, & Dengler, 2007). In ALS, motor neurons innervating all the voluntary muscles are affected, with the exception of eye muscles, which are seldom involved, and the bladder, which may be affected late in the illness. ...
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that selectively affects motor neurons. To date, there is no cure for ALS. It has been widely demonstrated how the use of AT can increase the independence and safety of patients improving their quality of life. Interventions based on the use of AT consist of aids to support residual capacities, increased autonomy and control of oneself and one's life, increased interactivity with the surrounding environment, increased participation in family and social life, maintaining a dignified standard of living, and at the same time decreasing the workload of the caregiver. The aim of the chapter is to provide an overview of the latest empirical evidence available on the use of AT-based programs for ALS people. Empirical data have demonstrated the effectiveness and adequacy of AT interventions. In conclusion, AT-based rehabilitation programs can be useful to promote the independence and quality of life of individuals with ALS.
... Furthermore, several other motor neuron diseases closely related to ALS fall within the disease spectrum in the El Escorial revised version, the most commonly used classification system. 7,8 The etiology of ALS remains primarily unknown 5 with the exception of genetically determined ALS variants, which affect 5%-10% of patients. 1 Remaining ALS patients with no evident family history of motor neuron disease, referred to as "Sporadic ALS," make up 90%-95% of all ALS patients. ...
... A videofluoroscopic swallow study (VFSS) and a fiberoptic endoscopic examination of swallowing (FEES) are often employed, although no protocols exist regarding the timing of dysphagia assessment in neurodegenerative diseases. 6,7,14 This retrospective cohort study aims to characterize ALS patients treated in the Helsinki metropolitan region during a 5-year period (2010)(2011)(2012)(2013)(2014). Specifically, we focused on patients with buALS, their presenting symptoms, diagnostic delays, and referrals to specialized care. ...
Objectives
Given its rarity and the lack of clear clinical markers, amyotrophic lateral sclerosis (ALS) remains a diagnostic challenge. Because bulbar‐onset ALS (buALS) presents with impaired speech or swallowing, patients are often primarily referred to an otolaryngologist (ORL) or phoniatrician. The objectives of this retrospective cohort study were to analyze the role of ORLs and phoniatricians in ALS diagnostics and treatment and the potential diagnostic delay related to initial visit to aforementioned specialists.
Methods
We reviewed data for all 327 patients treated for ALS through the Hospital District of Helsinki and Uusimaa (HUS) between 2010 and 2014, focusing specifically on 110 (34%) patients presenting with bulbar nerve onset (buALS). Their presenting symptoms, referral to specialized care, and delay in referral to a neurology clinic were assessed. Indications and findings from swallowing studies were reviewed as well as the incidence of percutaneous endoscopic gastrostomy (PEG) and tracheostomy.
Results
Among the 110 patients with buALS, 64 (58%) were primarily referred to a neurologist, 28 (25%) to an ORL, and five (5%) to a phoniatrician. The most common presenting symptom was dysarthria in 89 patients, (81%), followed by dysphagia in 26 (24%). In most cases, an ORL or phoniatrician suspected a neuromuscular disease; however, in eight (24%) cases, the neurological etiology of symptoms was missed. Overall, 49 (45%) patients underwent a swallowing study and 86 (78%) patients underwent PEG placement.
Conclusions
Among buALS patients, 30% initially consulted an ORL or phoniatrician and 45% underwent a swallowing study. Based on our results, swallowing studies rarely lead to immediate PEG placement. An initial visit to other specialists had no impact on diagnostic delays or survival.
... Studies in other neurodegenerative disorders, such as Parkinson's disease, show that non-motor signs have a strong impact on the quality of life of affected individuals [4] and relatives. For several symptoms, clinical guidelines have already been established [1,5]. Since there is currently no curative therapeutic option for ALS, multidisciplinary palliative care is a central approach to alleviate symptoms, which not only affect patients but also impact caregiver burden. ...
In this explorative mixed-method pilot study, we set out to have a closer look at the largely under-recognized and under-investigated symptom of thick mucus in patients with ALS and its impact on patients and relatives. Thick mucus is a highly distressing symptom for both patients and caregivers. It complicates the use of non-invasive ventilation and is therefore an important prognostic factor of survival.
Methods:
In our preliminary study, we used a cross-sectional design, including ten ALS patients with thick mucus who were matched to ten ALS patients without thick mucus. Lung function tests and laboratory and sputum analysis were performed and questionnaires administered in order to determine associated factors of thick mucus accumulation. In a qualitative study using semi-structured interviews, we analysed the impact of thick mucus on patients and caregivers.
Results:
Reduced respiratory parameters as well as a higher degree of bulbar impairment were associated with the presence of thick mucus. Quality of life of patients and caregivers was strongly impaired by thick mucus accumulation.
Conclusions:
Thick mucus in patients with ALS has a strong impact on quality of life. Reduced cough flow and severely impaired bulbar function appear to be indicative parameters. We suggest that healthcare providers actively explore the presence of thick mucus in their patients and that it becomes included in commonly used screening tools.
... La ELA bulbar presenta una tasa media de supervivencia inferior, debido al mayor riesgo de presentar alteraciones nutricionales 6 . ...
Introducción: La Esclerosis Lateral Amiotrófica (ELA) es una patología neurodegenerativa crónica y progresiva, que produce la muerte de las motoneuronas. Deriva en pérdida de peso, de masa muscular e incremento de deficiencias nutricionales. Existe relación entre la ingesta nutricional y la patogénesis de la ELA. El objetivo de este análisis fue describir las características sociodemográficas, antropométricas y clínicas junto con la ingesta nutricional en una muestra de pacientes portugueses afectados de ELA. Material y Métodos: Se realizó una anamnesis clínica breve. El peso corporal fue evaluado siguiendo el protocolo de la International Society for the Advancement of Kinanthropometry (ISAK) y la talla mediante el expediente clínico del paciente. Se realizó una anamnesis dietético-nutricional y un registro dietético. La ingesta nutricional se analizó con el software Nutrición y Salud® y se comparó con las Ingestas Dietéticas de Referencia (IDR). El índice de adecuación nutricional se consideró inferior a las recomendaciones cuando fue ≤ 80%. Resultados: Fueron analizados 13 pacientes (7 hombres) con edades comprendidas entre los 53-83 años. El 69,20% presentó ELA bulbar. Un 54% presentó normopeso. Todos los pacientes presentaron disfagia y disartria y un 84,62% constipación. En comparación a las IDR, en ambos sexos, se identificó deficiencia nutricional de fibra, vitamina D, E, B8, B9, calcio, magnesio y yodo, acompañado de un exceso nutricional de proteínas, lípidos, ácidos grasos saturados y sodio. Conclusiones: El hallazgo de estas deficiencias nutricionales es relevante ya que los nutrientes involucrados influyen sobre los mecanismos patogénicos de la ELA, porque son antioxidantes, antiinflamatorios y contribuyen al normal funcionamiento de las motoneuronas. Los excesos nutricionales identificados se relacionan con estrés oxidativo, inflamación y mayor riesgo de ELA. Son necesarios más estudios en muestras de mayor tamaño para contribuir a la comprensión de la relación entre las carencias y excesos nutricionales y el riesgo de desarrollo y/o progresión de la enfermedad.
... Due to its insidious onset, the time to diagnosis is approximately 12 months, with death usually occurring due to respiratory failure within three to five years of diagnosis. Percutaneous endoscopic gastrostomy (PEG) tube placement in ALS patients is associated with improved nutrition and decreased mortality rates, if performed early in the disease course [4]. ...
In this report, we present the case of a 61-year-old male patient diagnosed with amyotrophic lateral sclerosis (ALS), who presented to the ER with worsening shortness of breath, several hours following elective percutaneous endoscopic gastrostomy (PEG) tube placement. During his hospitalization, he was diagnosed with massive pneumoperitoneum, a potential complication of such procedures. We aim to provide a general overview of this condition and to discuss the special considerations in the treatment of ALS.
