Introduction
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by loss of motor neurons in the motor cortex, brainstem, and spinal cord. ALS is manifested by upper (UMN) and lower motor neuron (LMN) signs and symptoms affecting bulbar, limb, and respiratory musculature, usually with focal disease onset and eventual spread to other body regions. It is a terminal disease with no curative treatment, with respiratory failure leading to death typically 3 to 5 years following symptom onset. Clinical findings of UMN and LMN disease, in conjunction with electromyography, can help confirm the diagnosis and extent of denervation, but ALS is otherwise a diagnosis of exclusion, with normal imaging and laboratory testing ruling out reversible disorders with similar features. Treatment options, such as riluzole or edaravone, can improve survival or slow decline, but the benefit is measured in months. Therefore the focus of care for ALS patients is most often symptom management, as well as optimizing day-to-day function and quality of life through various rehabilitation interventions.
ALS is the most frequent neurodegenerative disorder of midlife, and the global incidence of ALS has remained at one or two new cases per year per 100,000 people. Prevalence increases with age, with the median age of onset at 65 years for sporadic cases of European ancestry and males more often affected than females, at a ratio approaching 2:1. Clinical presentations of ALS are often grouped into classifications of inheritance (familial or sporadic), phenotype (bulbar- or limb onset), and sub-phenotypes (ALS-FTD, pseudobulbar palsy, progressive spinal muscle atrophy, and primary lateral sclerosis). Further classification can be made by genetic features as evolving technologies for gene mapping have identified multiple ALS genes. Among these, a unifying cause for motor neuron degeneration in ALS remains unclear. Familial forms and bulbar onset have poorer prognosis with regard to speed of disease progression. Overall the heterogeneity of ALS with respect to clinical presentation, disease progression, potential disease pathophysiology, and genetic features has led clinicians and researchers to recognize ALS as a syndrome affecting multiple systems.
Clinically, ALS patients present with impairments as related to progressive weakness, fasciculations, muscle atrophy, spasticity, speech and swallowing difficulty, respiratory compromise, and in some cases neuropsychological impairments. Limb onset is the most common presentation, seen in about two-thirds of ALS patients, with weakness impacting mobility and upper extremity function. Bulbar onset accounts for about one-third of cases, with impairments in swallowing and speech affecting nutrition and communication. In addition, about 5% to 15% of ALS patients may fulfill criteria for frontotemporal dementia (ALS-FTD), and, more widely, cognitive or behavioral impairment occurs in up to 50% of ALS patients within the spectrum of FTD. Rates of decline are predicted by the ALS functional rating scale (FRS), forced vital capacity (FVC), and manual muscle test; however, cognition, psychosocial factors, nutritional status, and respiratory function have also been shown to be related to outcome.
Two disease-modifying pharmacological therapies can be offered to ALS patients. In some studies, riluzole has been shown to have a modest benefit on survival between 3 and 12 months. Edaravone may be effective in slowing functional decline in a select group of ALS patients over 6 months. Early referral to a specialized ALS multidisciplinary clinic (MDC) is recommended. Involvement in an MDC has been shown to be an independent predictor of survival, with patients living 7.5 months longer. Various studies have shown that multidisciplinary care is associated with better outcomes, including increased utilization of riluzole, noninvasive positive pressure ventilation (NIPPV), percutaneous feeding tubes, and adaptive equipment along with, most importantly, improved quality of life. Evidence suggests that NIPPV lengthens survival and if initiated early can slow the rate of FVC decline. Use of percutaneous endoscopic gastrostomy (PEG) feeding tube has also been shown to prolong survival. Regular moderate-intensity exercise is probably beneficial for function and quality of life.
In a specialized ALS MDC, rehabilitation needs can be assessed and coordinated to ensure early and appropriate timing of care based on best practice guidelines (see Table 10.1 ). Multidisciplinary care involves a team-based approach, which most often includes a physician, physiotherapist, occupational therapist, speech-language pathologist, dietician, respiratory therapist, and registered nurse. In order to address specific medical complications of this progressive disease, additional physician specialists, such as respiratory therapy or respirology, gastroenterology, and interventional radiology, and health professions, such as orthotics, assistive technology, social work, and psychology, may be linked to the clinic. As the disease progresses, end-of-life care is often coordinated through consultation with palliative care. In addition, in Canada, information about medical assistance in dying is provided when requested.
| Guideline | Year Published | URL |
|---|---|---|
| Canadian best practice recommendations for the management of amyotrophic lateral sclerosis | 2020 | http://doi.org/10.1503/cmaj.191721 |
| Home mechanical ventilation for patients with amyotrophic lateral sclerosis: a Canadian Thoracic Society clinical practice guideline | 2019 | http://doi.org/10.1080/24745332.2018.1559644 |
| Motor neurone disease: assessment and management NICE guideline (UK) | 2016 (updated 2020) | http://nice.org.uk/guidance/ng42/ |
| EFNS Task Force on diagnosis and management of amyotrophic lateral sclerosis (Europe) | 2012 | http://doi.org/10.1111/j.1468-1331.2011.03501.x |
| Practice parameter update—the care of the patient with amyotrophic lateral sclerosis: drug, nutritional, and respiratory therapies (an evidence-based review). Report of the Quality Standards Subcommittee of the American Academy of Neurology | 2009 (reaffirmed 2020) | http://aan.com/Guidelines/home/GuidelineDetail/370 |
| Practice parameter update—the care of the patient with amyotrophic lateral sclerosis: multidisciplinary care, symptom management, and cognitive/behavioral impairment (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology | 2009 (reaffirmed 2020) | http://aan.com/Guidelines/home/GuidelineDetail/371 |
MDCs provide prospective care, with early introduction of rehabilitation interventions in the anticipation of and planning for disease progression. Studies indicate that for people with ALS to maintain their quality of life, it is important that rehabilitation providers help maintain the person’s independence for as long as possible so that they feel empowered and in control of their lives. Rehabilitation expertise in interventions such as mobility and communication aids, swallowing and nutrition, exercise, management of pain and spasticity, respiratory care and secretion management, fatigue and sleep disorders, as well as cognition and psychosocial issues, is used to maximize patient independence, function, safety, and quality of life and to minimize disease-related symptoms.
Management of patients with ALS should be a collaboration between the family physician and the multidisciplinary ALS clinic, with the ALS clinic staff and a dedicated nurse available for remote consultation between patient visits. The frequency of MDC visits will be dictated by the patient’s needs and rate of progression, as well as the patient’s ability to attend. Physical impairments, fatigue, and geography can limit an ALS patient from attending in-person visits to the MDC. When these challenges are present, telerehabilitation and telehealth monitoring are feasible and may be able to supplement clinic-based multidisciplinary care.
Telerehabilitation in Amyotrophic Lateral Sclerosis
Best practice and evidence-based guidelines recommend that persons with ALS (PALS) should be managed by specialized MDCs ( Table 10.1 ). Benefits of such care include improved survival, reduced hospitalizations, greater use of adaptive equipment, increased use of interventions such as feeding tubes and noninvasive ventilation, and better quality of life. Barriers to accessing such clinics are well recognized and include time and distance to travel, economic and family burdens, stress/anxiety, and fatigue associated with the effort, particularly as the disease progresses and mobility, swallowing, breathing become more difficult. Additionally, such specialized care is typically centered in larger urban areas and academic centers, potentially huge distances for some families. Emerging evidence supports that telerehabilitation can allow for timely and cost-effective care for PALS, including access to multidisciplinary care, with outcomes similar to those followed by in-person clinics. With technology advances and greater access to mobile services, there has been a marked upswing in the study and reporting of telerehabilitation and telehealth experience in ALS care ( Table 10.2 ). Research and practice have been recently accelerated by the global COVID-19 pandemic, with in-person visit restrictions necessitating a shift to virtual solutions. Ongoing management and monitoring are particularly critical in this population whose care needs steadily change with the unrelenting disease progression. A recent systematic review captures that telehealth in ALS is well received by patients and caregivers while highlighting the importance of training and support. Recognizing this important strategy for ALS care, in the recently published Canadian best practice recommendations, delivery of multidisciplinary care through telerehabilitation and telehealth monitoring was recommended as “feasible and may be able to supplement clinic-based multidisciplinary care.” Three broad categories of telerehabilitation approaches have been described.
| Study/Year/Country | Sample Description | Method/Intervention | Outcomes | Key Findings |
|---|---|---|---|---|
| n = 31 PALS already diagnosed and followed at the MDC | Emergency use of telemedicine visit by telephone with neurologist | Satisfaction with intervention | All participants refused video and opted for phone; 85% were satisfied with the phone consultation and 90% were willing to continue with the program |
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| ALS app for self-monitoring and alerts with nurse practitioner follow-up |
| 87% adherence for reporting monthly ALSFRS-R; majority were satisfied with and HCP endorsed as added value |
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| Self-report questionnaire submitted via weekly telemonitoring |
| The question set together with weekly ventilator and oximetry monitoring facilitated the maintenance of ventilation and SpO 2 levels despite illness progression |
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| Participants used a telemonitoring device for 24 weeks, reporting weekly ventilator and oximetry data through a tablet-based application |
| Telemonitoring was positive experience; participants endorsed could reduce costs and burden and promoted physical and psychological well-being |
| n = 40 PALS and 37 primary informal caregivers | Usual care in-person visits with telemedicine tablet-based application as an add-on service, compared to usual care alone | Interviews on outcomes and experiences, descriptive analysis of implementation, and use of the application | Adherence was 70% among PALS; technology barriers were overcome by face-to-face training. Changes to alert system algorithms were recommended to address mismatch between patient and nurse expectations |
| n = 18 PALS completed 27 visits | Trained nurse performed home visits and video-recorded assessments that were later reviewed by the MDC team | Survey of satisfaction | Patients were all satisfied with the telemedicine visits |
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| Assessment of a telemonitoring system (TMS) for home exercise program | Compliance as captured by the TMS | Telemonitoring over 6 months was feasible and safe for monitoring a home aerobic (15 min of under 75% max HR) exercise program |
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| Assessment of information technology use and home-based telehealth | Descriptive analysis of survey and interview | Patients are willing and able to participate in telehealth, particularly videoconferencing |
| n = 97 PALS | Retrospective chart review of PALS using video televisits | Descriptive analysis of intervention | Most commonly addressed issues were medication management, goals of care, research, and equipment |
| n = 32 telehealth and 36 in-person clinic; no significant differences between groups other than telehealth lived further distance | Comparison of patients who chose videoconference to those followed through in-person clinics |
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| Videoconference ALS MDC with patient at home, held every 3 months in place of in-person clinic | Qualitative assessment of survey feedback | Telehealth experiences were rated highly, and deemed to be feasible and acceptable. Participants endorsed positives of no travel and less time required, noting challenges with technology and missing the physical examination as dislikes |
| n = 127 (n = 81 completed) | Online portal for self-administration of the ALSFRS-R | Comparison of onsite and online assessments at baseline and 3.5 months | Correlation between onsite evaluation and online testing of ALSFRS-R was highly significant ( r = 0.96; P < 0.001) |
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| Add-on teletreatment sessions with ALS rehabilitation physicians | Survey and interview of satisfaction and experiences with teletreatment | Participants were satisfied and positive about sessions; symptom management and disease progression were acceptable topics for teletreatment, while acceptance of diagnosis and end-of-life preference discussions were preferred to be held face to face |
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