Amyotrophic Lateral Sclerosis (ALS), a relentlessly progressive neurodegenerative disorder, presents a complex set of challenges for both patients and healthcare providers. The effective management of ALS hinges on the adoption of a comprehensive and multidisciplinary approach that aligns with the recommendations provided by the European Federation of Neurological Sciences (EFNS) task force guidelines. These guidelines serve as a vital compass for healthcare professionals, offering invaluable recommendations for the diagnosis and clinical care of ALS, while concurrently providing a crucial reference point for patients and their families.

The multifaceted nature of ALS necessitates a holistic approach, one that transcends the boundaries of a single medical specialty. To gain a deeper understanding of the practical implications of guideline adherence, we embarked on a retrospective analysis spanning 23 months. Our focus was directed toward ALS patients under the care of our neuromuscular ambulatory clinic. By exploring the practical applications of these guidelines, we seek to illuminate critical facets of ALS management and advocate for the adoption of more comprehensive care protocols, ultimately leading to improved patient outcomes and an enhanced overall quality of life.

Study Design and Data Collection

To comprehensively assess the characteristics of ALS patients and evaluate clinical practice aligned with the EFNS guidelines, we conducted a retrospective analysis spanning 23 months. Our focus cantered on ALS patients who received care at our neuromuscular ambulatory clinic. Data were collected from medical records, including patient demographics, clinical history, and interventions provided.

Statistical Analysis

Descriptive statistics were employed to summarize the patient population and clinical practices. Categorical variables are presented as frequencies and percentages, and continuous variables are expressed as means with standard deviation.

Patient Characteristics

We examined the data of 47 ALS patients (36 males, 11 females), with ages ranging from 40 to 81 years and a mean body mass index of 24.92 kg/m². Over half of the patients presented with comorbidities, most notably obstructive sleep apnea (44%), obesity, and asthma/chronic obstructive pulmonary disease.

Mortality

During the follow-up period, 17 patients passed away, resulting in a mortality rate of 36%. A higher prevalence of mortality was observed among male patients, accounting for 82% of the deceased cases.

Clinical Expertise and Multidisciplinary Care

Our clinic embodies a wide spectrum of medical expertise, encompassing multiple specialties including Neurology, Pulmonology, Rehabilitation, Gastroenterology, Psychiatry, and Palliative Care. The maintenance of a dedicated multidisciplinary team has proven pivotal. Regular bi-monthly meetings ensure that each patient benefits from a comprehensive ALS management approach that harnesses the collective expertise of multiple disciplines. This interdisciplinary approach is supplemented by access to additional therapists as needed.

Diagnosis and Onset-To-Diagnosis Interval

Our analysis revealed a concerning delay in ALS diagnosis, with an average onset-to-diagnosis interval of 2 years and 3 months. The most common forms of presentation included medullary (40%), bulbar (34%), and combined bulbar and medullary (21%) manifestations. Notably, approximately 87% of patients exhibited respiratory and/or sleep-related symptoms during their initial presentation, underscoring the challenge of timely recognition.

Neuroprotective and Symptomatic Treatments

All patients received Riluzole, a neuroprotective medication with established benefits in ALS management. Symptomatic treatments were individually tailored, following established protocols designed to address specific symptoms such as sialorrhea and others.

Genetic Testing and Counselling

All eligible candidates underwent genetic testing, accompanied by tailored counselling provided by our Genetics medical team.

Respiratory Care

Respiratory care is of paramount importance in ALS management. Non-invasive ventilation (NIV) was employed by 83% of patients, with 8% initiating NIV acutely during inpatient care due to respiratory failure. Tracheostomy was utilized by 8.5% of patients, and mechanical cough support techniques were employed by 60%.

Communication Needs and Enteral Nutrition

Our speech therapists addressed communication needs, offering support in alternative methods and speech augmentation techniques. Nutritional support included the use of percutaneous endoscopic gastrostomy in 20 patients, conducted under NIV support through collaborative protocols involving Pulmonology, Anaesthesiology, and Gastroenterology.

Palliative and End-Of-Life Care

Specialized palliative care assessments were available when needed. However, it is worth noting that only a minority of patients had advance directives or living wills in place, emphasizing the need for enhanced end-of-life care planning.

In light of our findings, it becomes apparent that ALS diagnosis is often accompanied by a significant delay, with a substantial proportion of patients presenting with respiratory and sleep-related symptoms during their initial evaluation. This underscores the challenges of early recognition and the need for improved diagnostic strategies to expedite the commencement of vital interventions.

Our multidisciplinary approach, characterized by regular team meetings, has played an integral role in ALS care. The collaborative nature of this approach ensures the provision of comprehensive management, addressing the diverse needs of ALS patients.

Furthermore, the administration of Riluzole, a neuroprotective treatment, and tailored symptomatic interventions highlights the importance of a holistic approach to patient care. These interventions, executed according to established protocols, serve to enhance patient comfort and quality of life.

Genetic testing, respiratory care, communication support, and nutritional assistance all reflect our commitment to a patient-centric approach, targeting the multifaceted challenges posed by ALS.

The utilization of palliative care assessments, while available when needed, accentuates the significance of proactive end-of-life planning. Our study sheds light on the underutilization of advance directives and living wills, suggesting a need for enhanced communication regarding end-of-life preferences within the ALS community.

Collectively, these findings underscore the pivotal role of a multidisciplinary approach, timely diagnosis, and adherence to established guidelines in optimizing ALS care. The comprehensive management strategy outlined in our study holds the potential to enhance patient outcomes and elevate the overall quality of life for individuals affected by this complex condition.

Our analysis highlights critical aspects of ALS management, notably the delayed diagnosis of ALS and the prevalence of respiratory and sleep-related symptoms during initial evaluation. Furthermore, we underscore the vital role of respiratory care in ALS management and the proven significance of Riluzole in improving patient outcomes. Our study emphasizes the value of a multidisciplinary approach, ensuring that patients access a wide spectrum of expertise, thereby enhancing the effectiveness of ALS management.

By illuminating the adherence to guidelines and good practice points in ALS management, we advocate for the development of more comprehensive care protocols, with the ultimate goal of improving patient outcomes and enhancing their overall quality of life. This study contributes to the ever-evolving landscape of ALS care, providing valuable insights that benefit not only healthcare professionals but also the individuals and families affected by this challenging condition.

We wish to acknowledge the ALS patients and their families for their cooperation and the healthcare professionals at our clinic for their dedicated support throughout this study.

Funding Information

This study was conducted without external funding.

1. Marin B, Beghi E, Vial CP, Laurette G, Clavelou P, Guy N, et al. Evaluation of the application of the European guidelines for the diagnosis and clinical care of amyotrophic lateral sclerosis (ALS) patients in six French ALS centres. European J Neurobiology. 2016; 23: 787-795.
2. Andersen PM, Abrahams S, Borasio GD, Carvalho M. EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. European J Neurobiology. 2011; 19: 360-375.