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Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive diaphragm weakness and deteriorating lung function. Bulbar involvement and cough weakness contribute to respiratory morbidity and mortality. ALS-related respiratory failure significantly affects quality of life and is the leading cause of death. Non-invasive ventilation (NIV), which is the main recognized treatment for alleviating the symptoms of respiratory failure, prolongs survival and improves quality of life. However, the optimal timing for the initiation of NIV is still a matter of debate. NIV is a complex intervention. Multiple factors influence the efficacy of NIV and patient adherence. The aim of this work was to develop practical evidence-based advices to standardize the respiratory care of ALS patients in French tertiary care centres., Methods: For each proposal, a French expert panel systematically searched an indexed bibliography and prepared a written literature review that was then shared and discussed. A combined draft was prepared by the chairman for further discussion. All of the proposals were unanimously approved by the expert panel., Results: The French expert panel updated the criteria for initiating NIV in ALS patients. The most recent criteria were established in 2005. Practical advice for NIV initiation were included and the value of each tool available for NIV monitoring was reviewed. A strategy to optimize NIV parameters was suggested. Revisions were also suggested for the use of mechanically assisted cough devices in ALS patients., Conclusion: Our French expert panel proposes an evidence-based review to update the respiratory care recommendations for ALS patients in daily practice., (Copyright © 2024. Published by Elsevier Masson SAS.)

Competing Interests: C. Desnuelle déclare n’avoir aucun lien d’intérêts.

Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease of the adult age. It is an aggressive condition with a mean disease duration of only 3 to 5 years, characterized by progressive weakness and atrophy of limb, bulbar, and respiratory muscles. In general, death is caused by chronic hypoventilation due to respiratory insufficiency. No causal treatment is known today, but the two therapeutic agents authorized in Switzerland for the treatment of ALS can slow disease progression significantly. Other important therapeutic strategies include invasive/non-invasive ventilation, pain therapy, as well as physio-, ergo- and speech therapy on a regular basis., Competing Interests: Les auteurs n’ont déclaré aucun conflit d’intérêts en relation avec cet article.

Amyotrophic lateral sclerosis (ALS) is an incurable disease characterized by muscle atrophy leading to complete paralysis. Once diagnosed, the average life expectancy is three to five years. In this context, palliative and end-of-life care are essential, as well as the development of cognitive and/or psychological therapies to improve the quality of life of patients. In this context, we conducted a review of the pertinent literature about psychological and cognitive interventions in end-of-life support for ALS patients. We identified 504 references out of which only four studies met our inclusion criteria. Two studies focused on dignity therapy, one study on the delay between the diagnosis and the start of psychological care in a specialized centre, and one case-report on psychological therapy combined with a computer-assisted communication system. The results of these studies, although very limited, suggest that psychological interventions may improve the management and quality of life of end-of-life ALS patients. Further studies should investigate the impact of psychological support adapted to ALS, using, for example, computer-assisted communication allowing to implement these interventions in a larger number of patients and over the long term.

Competing Interests: Les auteurs déclarent n’avoir aucun lien d’intérêts, en dehors de l’ARSLA.

Competing Interests: C. Desnuelle déclare avoir des liens d’intérêts ponctuels avec Genzyme (interventions ponctuelles et prise en charge lors de congrès).

Management Of amyotrophic lateral Sclerosis Management of amyotrophic lateral sclerosis starts with diagnosis announcement which is straightaway followed by initiating neuroprotective treatment (riluzole). A quarterly-based management is proposed, coordinated by an ALS center in close collaboration with the general practitioner, home care organization, and a dedicated health network. Key point for efficiency of global care is to develop a coordination with a multidisciplinary approach, including the involvement of neurologist and physicians from different medical specialties, nurse practitioners, physical and occupational therapists, speech language therapists, dietitians and psychologists. The assessments follow-up concern mainly motor impairments and physical disability, adaptations, nutritional and respiratory functions. Associated symptoms such as pain, spasticity, mood disorders have to be recognized and treated. Decisions about nutritional and respiratory assistive devices require a collaborative approach involving specialized practitioners and paramedical professionals. These decisions have to be anticipated (advanced directives) in agreement with the patient, the family and the trusted person. Along the disease's management, patients and their family may have support from a psychologist. Finally, home care organization requires the intervention of a social worker., Competing Interests: M.-H. Soriani déclare. Je déclare avoir été prise en charge, à l’occasion de déplacement pour congrès, par SOS oxygène sur l’année 2015-2016.

Competing Interests: V. Danel-Brunaud déclare n’avoir aucun lien d’intérêts.

Among motor neuron diseases, spinal muscular atrophy type 1 and amyotrophic lateral sclerosis are very aggressive diseases with no cure. With the breakthrough of human induced pluripotent stem cells, iPS, researchers have now at their disposal a powerful tool to generate human motor neurons in culture and study the pathological defects in patient cells. In this review, we will see which tools for the study of patients motoneurons were developed from iPS cells and the different cellular models that were generated. We will also see how these models were validated and current research to identify new therapeutic leads., (© Société de Biologie, 2016.)

Body-mind practices can be implemented at home, notably as part of palliative care. They help to relieve pain and to improve the patient's comfort and wellbeing. This article presents the experience of a palliative care nurse with a person suffering from amyotrophic lateral sclerosis.

Progresses in the multidisciplinary care, particularly in the nutritional and respiratory management, allowed improving the quality of life and survival of ALS patients. Non-invasive ventilation is initially performed overnight but with the progression of diaphragmatic weakness, a continuous ventilatory support is often needed. Advances directives regarding end-of-life issues are important to respect patient's wishes regarding the choice of invasive ventilation with tracheostomy. Riluzole is the only neuroprotective drug that has demonstrated a significant but modest effect on survival and is well tolerated The failure of therapeutic trials may be partly related to the heterogeneity of the disease. Recent progress in the genetic of ALS may lead to new therapeutic strategies. Results of therapeutic trials with drugs or nutritional intervention are expected in 2014., (Copyright © 2014 Elsevier Masson SAS. All rights reserved.)

Amyotrophic lateral sclerosis is a rare neurodegenerative disease. It is characterized by motoneurons progressive degeneration. Associated with a paralysis of the legs, arms and the respiratory muscles, its evolution is lethal. Riluzole is the only drug available with an marketing authorisation (autorisation de mise sur le marché [AMM]) in this indication. In the beginning stages of the disease it demonstrated a modest efficacy by prolonging survival for a few months. Although the physiopathological mechanisms of this disease have not been totally solved, the progression of knowledge in recent years in this area led to the development of a large number of neuroprotective agents which showed effective results in animal models of ALS and which could be good candidates for the treatment of ALS. Several clinical trials have been conducted about antiglutamatergic, antioxidant, antiapoptotic agents and growing cell factors but they failed to demonstrate efficacy on survival or quality of life. Therefore, clinical trials using innovative therapeutics and stem cells are ongoing and offer more distant hope., (© 2013 Société Française de Pharmacologie et de Thérapeutique.)

The multidisciplinary care of amyotrophic lateral sclerosis (ALS) patients in clinics with expertise in the disease was created in the 1980s and 1990 s specifically to manage the severe functional impairment caused by the disorder. This specialized care for both diagnosis and management led to the creation of the ALS centers. To facilitate the continuity of care through close liaisons between primary-care physicians and community-based services, a specialized network was also developed. French ALS centers are now 10 years old, and their efficient national coordination has provided an improved and homogeneous care delivery in our country, while their recommendations for care have been published both nationally and internationally. Several studies have indicated positive effects on ALS patients'survival after attending ALS centers and receiving such specialized palliative treatments as assisted ventilation., (Copyright © 2013 Elsevier Masson SAS. All rights reserved.)

The benefits of early intervention on the part of a palliative care network are proven. Assisting both patients and their family, the aim is to support them through every stage of the disease. This article presents the example of the care provided by the NEPALE 91 palliative care network to a patient suffering from amyotrophic lateral sclerosis.

Non-invasive mechanical ventilation in patients with chronic neuromuscular disorders is an effective tool for treating dyspnea or sleep disturbances often observed in such patients. So, NIV has to be considered as a palliative treatment and it must systematically be offered to these patients. Mechanical ventilation, non-invasive or invasive (via a trachesotomy) have to be considered systematically with patients and families at an earlier stages of these diseases in order to design a strategy in case of acute respiratory failure. In a second parent paper of this issue, we discuss the medico-legal implications of mechanical ventilation in neuromuscular failure, particularly the end-of-life aspects.

The legal frame in which chronic mechanical ventilation is placed in Switzerland and France is discussed in this article. Safety of the patients and responsibility of caregivers are considered. We also discuss the ethical and legal aspects of the end-of-life of these patients, particularly when they decide that mechanical ventilation must be interrupted because they do not more tolerate their poor quality of life, and when they deliberately decide to die.

Specialized and multidisciplinary care is needed for patients with amyotrophic lateral sclerosis (ALS). Respiratory failure secondary to respiratory muscle dysfunction, ineffective cough, weight loss and progressive loss of autonomy should always be sought and explored. Very few tests are needed to assess a patient with ALS: spirometry, blood gases, nocturnal oximetry, cough peak-flow, and follow-up of body weight. Patients should be informed clearly as to the nature and evolution of ALS, and as to the potential benefits and disadvantages associated with each treatment modality in order to be involved in therapeutic decisions. This evidence-based review focuses on respiratory care of patients with ALS.

This paper from a group of French experts in amyotrophic lateral sclerosis (ALS) presents an update of recent advances in fundamental, epidemiological and clinical research in ALS. Recent development in the pathogenesis of ALS suggests that motor neuron degeneration is a multifactorial and noncell autonomous process. Research has been advanced through the identification of the TAR-DNA-binding protein (TDP-43) as a common neuropathological marker of ALS and frontotemporal lobar degeneration with ubiquitin-positive inclusions. Recently, mutations in the TDP-43 gene have been described in individuals with familial and sporadic ALS. Fundamental research in ALS is expected to lead to the disclosure of new diagnostic markers and therapeutic targets. A small trial has suggested that lithium carbonate may slow ALS progression but larger trials will be needed to confirm these results.

Home mechanical ventilation (HMV) is the treatment of choice for patients with chronic hypercapnic respiratory failure. Since the middle of the 1980's, the number of cases under HMV has markedly increased. Presently, at our centre (n=176 patients), obesity-hypoventilation syndrome (36%), and COPD (21%) are the most frequent indications for HMV. Classical indications such as sequellae of tuberculosis, or poliomyelitis, kyphoscoliosis, or neuro-muscular diseases, represent 25% only of our HMV population. Bi-level pressure support ventilators have replaced the volumetric ventilators used in the 80's in most situations. A specialized team of nurses monitors closely at home clinical evolution, and compliance, gathering an important amount of clinical data, and allowing the early detection of clinical deterioration.

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease, incurable, mostly declared near the age of sixty-seventy, but more rarely for the older individuals. Because presenting symptoms are non specific (muscle weakness, functional decline, loss of ambulation, dyspnea, dysphagia), diagnosis in early stages may be difficult and delayed, particularly on polymorbid older patients. Symptomatic management is the mainstay of treatment for ALS; care in multidisciplinary team, with maximal psychologic support, is associated with enhanced quality of life. In this article we remind markings aspects of ALS of the older subject, in the light of the follow-up of five patients in our geriatric service.

Amyotrophic lateral sclerosis (ALS) is an illness in which respiratory complications often determine the terminal prognosis. Emergency situations lead one to pose questions concerning an endotracheal intubation or a tracheotomy. A tracheotomy should not be performed during an emergency situation. A tracheotomy necessitates a stable condition and prior reflection. Orotrachael intubation is the method of choice during emergency situations requiring invasive ventilation or airway protection. Intubation during an emergency situation presents specific problems: the lack of knowledge concerning the person and their pre-established desires, the impossibility of evaluating the potential reversibility of an acute pathology, the risk of not being able to wean the patient off the ventilator and the lack of time to gather all the elements necessary for a well-thought out decision. It may be appropriate for emergency personnel to introduce mechanical ventilation and leave the reflection for a later moment, but this approach is not suitable for people in end of life situations in which the person and the family wish to avoid all unreasonable therapeutics. One solution may be to develop among emergency care teams the practice of using non-invasive ventilation and airway clearance techniques as well as developing palliative care knowledge. Orotracheal intubation in an emergency situation presents certain practical difficulties, notably regarding the choice of anesthetics. Preventings situations where emergency intubation may be necessary is probably best obtained by anticipating acute problems, by preparing the ill person, the family and the care givers, by coordinating the potential care providers and by educating emergency personnel in palliative care.

ALS usually affects highly active, working, sportive individuals. The disease has a devastating impact on the patient's personal life and family ties. Indeed, the disease requires constant attention from the carer for its rapidly progressive nature leads the patient to a complete state of isolation without affecting his/her intellect. For the patient days, are numbered, for the carer, time is limited. The carer must cope with a number of medical, administrative and financial difficulties. These include belated diagnosis with its disastrous consequences on medication, lack of response from the decision-making services, home-improvements or car-fitting. All this requires amazing tenacity from the carer. All the more so as the progress of handicap is relentless and the patient is bound to use different forms of support, walking-stick, zimmer, wheel-chair, hoist, speech synthesis, gastrostomy, tracheotomy or palliative care, which turn out to be more or less effective. But mechanical devices are not enough. Assistance by a nurse, a physiotherapist, a speech therapist and/or a nursing auxiliary is necessary. There are not enough of these assistants and the result cannot be guaranteed, but their role is essential in home care. The carer's investment can be terribly consuming. The burden of 24h care wears out the carer whose days and nights are being regulated by the disease. Not to mention lonely patients with no means of support who find themselves confronted with inevitable daunting problems Institutions providing either temporary or permanent care for ALS patients are scarce. As the condition worsens steadily, the patient suffers sheer desperation and guilt feelings and resents being a burden for family yet would rather stay with them. ARS volunteers who collaborate with medical teams can provide much help. The carer's burden should be greatly lightened too by the newly-installed tutorial system: patients' files will be followed up by one single person after the center's social worker has drawn them up. Medical and home volunteers cooperate to give the patient the feeling that far from being abandoned or ostracized by society, he/she is constantly being given care.

Psychological management of patients with amyotrophic lateral sclerosis (ALS) and their caregivers is a relatively recent concern, probably because there was previously a tendency to consider only physical functioning. Recent work have focused more on psychological well-being concerning patient and their close relative and have highlighted the great need for considering psychological reactions after such a diagnosis. The needs and goals of the patients cannot be limited to functional factors and should be considered in their psychological, social and familial settings. Currently, we consider that close relatives should benefit from psychological support just like patients with ALS. This review suggests different ways to improve management of patients with ALS, while considering personal for strategies coping with the disease, the familial and social context, and individual factors that could improve quality of life (QOL). Studies have demonstrated the significant role of psychological, existential and support factors in determining QOL in these patients.

Related to its clinical characteristics, amyotrophic lateral sclerosis (ALS) is a paradigm of the ethical difficulties due to a chronic and relentless fatal disease. Its fatal evolution in relation with a respiratory failure, but mainly the choices imposed by the respiratory insufficiency at the end of live, makes that the medical team faces very difficult situations. These situation can be solved only case per case, with repeated discussion with the patients and its relatives. The appeal to the shared dossier becomes essential in this approach. It makes easier the communication, and the appropriation and sharing of information and knowledge that are necessary to anticipate the end of life decisions. ALS sparks off constantly renewed dilemmas.

ALS is a progressive, fatal, degenerative motor neuron disease of unknown cause. Although advances in understanding pathophysiology of ALS have stimulated the development of new therapies, most of them remain few efficient or ineffective and the main management of ALS patient, to improve quality of life by alleviating symptoms, is symptomatic treatment. This article discusses the approaches now in use to manage some of the most common symptoms of ALS including the following: spasticity, cramps, pain, laryngospasm, pseudobulbar syndrome, salivation and drooling, sleep disorders and fatigue, constipation and trophic troubles.

In ALS Centers, the patient receives coordinated care from Health Volunteers and the medical team including specialized physicians, therapists and social workers. There are two types of volunteers: those who assist the patient in hospital, the Medical Volunteers (MV), and those who make home visits, the Home Volunteers (HV). Both are recruited and trained by the ARS and have a single motivation: help the patient's; they are emotionally and morally fully qualified to accomplish their task in accordance with the rules that have been set by the Association. The ALS patient is seen for the first time by the Medical Volunteer at the ALS Center, immediately after his or her disease has been diagnosed by the clinic's director. The MV takes the initiative for the dialogue, which he/she leads gently and tactfully. The discussion is aimed at gathering useful information to be put in the document: "Connaissance du malade" (knowledge of the patient), working out the patient's primary concerns and assessing the carer's commitment, in a friendly atmosphere. Finally the volunteer gives the guidebook, "Livret d'accueil" to the patient. After the conversation, the MV decides which confidential pieces of information are to be passed on to the medical staff with a view to sorting out problems; information is then set the HV who will provide follow up care for this patient. Long-term care management of ALS patients is achieved through three regular monthly appointments at the ALS Center. With the help of the document "Connaissance du malade" the MV keeps better in touch with the patient using the feedback from the HV about what has been going on in the interval between the two visits to the ALS Center. This collaboration enables appropriate follow up care for the patients with clearly-defined objectives: dealing with the patient's anxiety, understanding his/her position at the present time, his/her daily routine and needs, comforting, checking compliance with treatment, counselling and supporting the family, answering delicate questions. Thus, the Health Volunteer's mission contributes meaningfully to medical treatment. This approach likely helps the person affected by ALS to regain the initially deteriorated sense of belonging to the social body.

In amyotrophic lateral sclerosis (ALS) announcement of the diagnosis is an important step in the process of comprehensive care. The patterns of psychological reactions following bad news must be considered with precaution. The neurologist must take into consideration the specific aspects of announcing familial ALS. This paper reviews the modalities of announcement of the diagnosis and course in ALS patients.

Operatory procedures can help to break bad news in ALS but the main goal of this unpleasant task stands in the quality of the relationship between the physician and his patient which must be preserved throughout the course of the disease. Plasticity is obviously the best way to characterize the appropriate kind of care in such a variable disease. The caregivers and the psychological factors must also be taken into account. As it is the case for therapeutic research, breaking bad news in ALS requieres a specific know-how which should be ideally performed by specialized teams within the framework of dedicated ALS centers.

Objective: Analysis of the literature about functions of health volunteers in ALS., Method: Article selection in MEDLINE, CINHAL and EMBASE., Results: The notion of health volunteer has several meanings, and relates to different models varying between substitution and supply. The role of volunteers in a French and two Canadian NPO are described., Conclusions: The function of the volunteer integrates potentially interpersonal aid relationships, social mediation, and active functional help components.

Amyotrophic lateral sclerosis is a devastating disorder for which the psychological consequences of both the diagnosis announcement and the evolution of paralysis not only concern the patient but also his family. The role of the psychologist is to develop an individualized follow up considering the patient in his globality. The first consultation is, ideally, initiated after a medical consultation explaining the importance of the psychological area in ALS patient care. The psychological follow up will consist in an empathic listening of history and problems. Information will also be given to the patient by the psychologist who's role should not be only passive. When talking about "globality" of the psychological intervention for a given patient, his family takes a determinant place. The psychologist should be able to establish a contact with the family members concerned by the daily support to the patient. The psychological processes through which a patient will evolve should be explained to the family. Depression frequently affects family members, and a specific follow up in those cases has to be undertaken as soon as possible. Such a depressive reaction may also take place after death and a psychological follow up do not end after the death of a patient. The role of a psychologist in ALS care ideally takes places in the context of a multidisciplinary team such as a motoneuron clinic now largely available in our country. The burden of care is frequently heavy both for the family and the team of professional carers into and outside the hospital. The psychologist has a role of mediation between those persons, facilitating verbal exchanges, paying attention to specific difficulties and maintaining a fruitful exchange between the carers, the patient and his family. More prospectively, the psychologist also has a pedagogic role for the carers explaining psychological processes and giving clues for a constructive relationship between the patient and his family and also between this patient and his carers.

Artificial nutrition is necessary when oral feeding becomes insufficient to cover protein and energetic needs and becomes dangerous (risk of malnutrition, dehydration and aspiration). In ALS patients, enteral nutrition is the method of choice and gastrostomy is preferable to nasogastric tube which must be limited for a short term enteral nutrition or if gastrostomy is at risk (because of pulmonary function) or refused by the patient. The percutaneous gastrostomy can be placed endoscopically (PEG) or radiologically (RIG), surgical gastrostomy has to be avoided because of general anaesthesia. Advantages of RIG are a success rate of about 100 percent and a placement feasible without sedation but its superiority on PEG in ALS patients especially if pulmonary functions are altered is not demonstrated. No objective criterion permits to define the exact moment of enteral nutrition. However, enteral nutrition is recommended when dysphagia becomes symptomatic (insufficient caloric intake with weight loss, dehydration, frequent choking and aspiration). Swallowing disorders must be detected early to give to patients and their family information about enteral nutrition and gastrostomy as soon as possible and to help them to decide. It is desirable to propose gastrostomy when forced vital capacity is yet above 50 percent and nutritional state not altered (body mass index>18kg/m2 and/or weight loss<10 percent). Enteral nutrition is not desirable in ALS patients with dementia or in the preterminal phase. Suitable enteral nutrition with regular nutritional evaluation can improve nutritional status. Currently, improvement of quality of life and survival due to enteral nutrition has not been proved in ALS patients.

Long term mechanical ventilation improves survival and quality of life in patients with Amyotrophic Lateral Sclerosis (ALS). There is an enormous range of equipment available but there is little evidence pointing to the superiority of one device over another. Another problem is the lack of adaptation of equipment for use by handicapped patients. Indication on mechanical ventilation in ALS is discuss in this article: Symptoms associated with an objective criteria of hypoventilation are often used. In the monitoring of this mechanical ventilation new tools are needed, initiating nocturnal ventilation with systematic respiratory polygraphic studies seems to be justified.

There is very little information in the medical literature concerning the problems of tracheotomy and emergency intubation in amyotrophic lateral sclerosis. Nevertheless, we can assumed that: explicative information for the patient is important, emergency ventilation is not very frequent, emergency ventilation was not systematic, prognosis of emergency ventilation is very poor.

The finding in 1993 of a mutation of the copper zinc super oxyde dismutase (SOD1) provides a major breakthrough in the understanding of the etiopathogenic mechanism of amyotrophic lateral sclerosis. Various mechanisms are commonly implied in the motor neurons degeneration. Excitotoxicity and calcium metabolism abnormalities are one of the most frequently confirmed hypotheses. It allowed proposing riluzole which remains the only one drug proved to be active in the disease. The role of growth factors remains controversial and all therapeutic trials performed with these molecules remained negative. Oxidative stress abnormalities are demonstrated by number of studies but their direct therapeutic application remains to be demonstrated. Apoptosis and the role of mitochondria has been definitely confirmed and open a new therapeutic avenue for the next few years.

During the evolution of amyotrophic lateral sclerosis (ALS), quality of life and survival of patients are related to respiratory and nutritional status. After diagnosis, a multidisciplinary care has to be promptly organized and coordinated by the referring neurologist. The nutritional and respiratory support imply that neurologists know their specific means of evaluation with their sensitivity and sensibility and be able to recognize clinical risk situations. The informations of patients on assisted-ventilation and nutritional support by using gastrostomy may be done early, precisely and trustfully. Well informed patient's choices must be respected. Nutritional and respiratory supports may be based on recommendations established by the American Academy of Neurology. This review will present and discuss their main aspects in patients with ALS.