The Use of Telemedicine Devices and Telehealth in Neuromuscular Disease

The expansion of telemedicine use in NMDs and development of clinically relevant but easy-to-use remote monitoring systems has potential to improve patient access to expert care.

M. S. Damian, MD, FEAN, FNCS, and Prof. P. Laforet, MD, PhD

Patients with neuromuscular disorders (NMDs) have diverse and complex care requirements, typically served by highly specialized centers. However, these may be geographically remote, and the COVID-19 pandemic underlined the system’s fragility by leading to widespread suspension of diagnostic, support, and rehabilitative services.¹ Cancelled routine visits and limited outreach resulted in morbidity and even deaths. The demand for telehealth and remote care to help resolve this situation increased. This article describes the concept and current options using telemedicine in the care of people with NMDs.

Telemedicine in NMD at the Onset of the COVID-19 Pandemic

Prior to COVID-19, telemedicine was mainly used to overcome geographical challenges in thinly populated or resource-poor regions, or for monitoring patients with impaired mobility at home. Small case series suggested efficacy and economic advantages by reducing hospitalization. Zamarron et al. demonstrated the long-term feasibility of telemonitoring with video consultations plus Sp02, BP, ECG, overnight oximetry in home-ventilated patients via a residential internet gateway with alarm system and monthly outreach nurse check-ups.² Challenges included changes in the patient-carer relationship, and difficulty procuring individually adapted systems.

COVID-19 forced a hasty rethink of this position. Guidon and Amato discussed neuromuscular telemedicine consultation by phone or videolink.³ They perceived high potential for follow-up in myopathy, myasthenia gravis (MG), and polyneuropathy when stable, or for management of pain; moderate utility for new or unstable neuromuscular disorders, but low utility where there were discrepant symptom findings, for second opinions, and for primary management of unstable patients. Face-to-face clinics remained mandatory where electrodiagnostic studies and muscle and nerve biopsies were urgently needed, and where the results would change management, as in new onset amyotrophic lateral sclerosis (ALS), MG, and immune-mediated neuropathy or myopathy.

New scores and protocols may mitigate these shortcomings: Garibaldi et al. developed functional scores for myopathies and neuropathies (the Myo-FRS and N-FRS), taking reference to older disease-specific scores such as the MG-ADL for myasthenia gravis, and the ALSFR-R for amyotrophic lateral sclerosis.⁴ Ricciardi et al. suggested a protocol for remote clinical testing in MG, featuring:

• Counting aloud test in one breath (CAT)
• Hoarseness test (voice change with high-pitched vocalization)
• Head-up test (10s head flexion from supine)
• Swallowing test (3oz = 90ml water swallow)⁵

Other approaches included the Veteran Affairs Neuropathy Scale, which Wilson et al. piloted in telemedicine clinics⁶ and teleswallowing, a remote swallow assessment.⁷ This work provides a toolkit to perform a detailed clinical assessment, remotely via videolink. Purely audio remote interviews are more limited. Significant technical challenges for remote clinics remain regarding the availability of monitoring devices, broadband speed, audio-visual quality, internet lagtime for timed tests (10m walk, Timed-up and Go-test), users’ technical expertise, and computer literacy. To improve this, protocols to perform a video NMD clinic have been published.^8,9 Videoconferencing platforms have been evaluated,^10,11,12 and video platforms are available in a number of commercial patient management systems. Overall, the use of telemedicine in NMDs increased during the COVID-19 pandemic, but telemonitoring was used considerably less.¹³

Telemonitoring found its first application in clinical trials to optimize remote clinical assessment, but also to improve trial recruitment and monitoring. Reliability and strong correlations between wearable physical activity monitors (sensor-based systems using activity watches or body-worn sensors, PAMs) and neuromuscular measures confirmed PAMs’ utility as outcome measures and in long term monitoring.¹⁴ Mobility data can be gathered by PAMs, or by ambient measurement systems (AMS), which passively measures movement such as ambulation speed, rise-to-stand speed, and arm-raise speed when someone is in range of a sensor.

Remote monitoring of life-supporting technology, such as home mechanical ventilation (HMV), requires regular monitoring of physiological variables (spO2, spCO2, respiratory rate) by carers supported by specialist outreach, and requires a continuous data link to the monitoring center for analysis and troubleshooting.¹⁵ It can enable remote initiation of HMV and may reduce costs, and may help predict exacerbations, allow remote interventions and adjustments.^16,17 Challenges about data security and privacy, caregiver involvement and acceptance, availability of high-speed internet, and misconceptions around time needed, remain.^18,19

Mobile Phone-Based Clinical Assessment

Wearable monitors have the disadvantage that they are expensive pieces of advanced technology, and the proliferation of devices patients must wear to allow multimodal monitoring can be intrusive. This makes them both cumbersome as well as unsuitable for low-income health environments. Therefore, exploring the potential of a ubiquitous device, such as a smartphone to provide multimodal monitoring is attractive.

Digital technologies are currently expanding rapidly, especially in the field of NMDs. They can reduce data collection burden and increase knowledge of real-life data. MG is an autoimmune neuromuscular disease characterized by very heterogeneous symptoms potentially associating ocular, bulbar, respiratory and skeletal muscles weakness and fatigability.

In current practice, visits to the physician’s office are planned every three to six months. However, since patients might experience worsening symptoms outside of visits, clinicians must often rely on patient recollection during consultations, which present a recall and subjectivity bias that can compromise the estimation of disease status. In this context, it will be clinically relevant to allow patients to self-assess their symptoms and physicians to collect and analyze digital biomarkers for a closer monitoring.

Figure 1. Remote clinical assessment enabled on a smartphone.

As an example, an ongoing study (ME&MG™, NCT: 05564936) aims to validate a digital solution that runs on patients’ smartphones. It is intended to be used as an unsupervised digital self-assessment tool for the monitoring of muscle weakness, fatigability, and disability in patients living with MG. This application contains digital active tests for the assessment of ptosis, breathing, dysarthria, upper- and lower-limb weakness, treatment follow-up, and validated e-questionnaires related to daily activities, pain, fatigue, sleep, and depression. The objectives of this study are to validate the clinical performance of the unsupervised at-home self-assessment of symptoms on the patient’s smartphone with ME&MG^™ compared to the standard in-clinic testing, including analytical performance as well as to evaluate the safety of the solution, its usability, and satisfaction. Eight sites in France and the United States will be involved in this study.20 A further study evaluating the device is ongoing in the U.S. and Canada (NCT05566964).²¹

Figure 1 demonstrates the remote clinical assessment enabled on smartphone using the ME&MG software.

Machine-Learning Models of Telemonitoring and AI-Based Analysis of Digital Biomarkers

Machine-learning (ML) and AI-based models can conceivably help establish objective, rapid, and more accurate interpretation of remote data acquired by telemedicine monitoring. Vieira et al. devised an objective measure for ALS disease severity based on voice samples and accelerometer measurements, correlated with ALS-FRS-R scores over a four-year period with an audio voice recording and Actigraph GT3X accelerometers on each limb. They also trained ML models to predict bulbar-related and limb-related ALSFRS-R scores.²²

Similar approaches were used to assess changes in an edaravone-treated patient sample. Wearables can produce an objective severity score.²³ There have been several approaches to wearables for therapy studies,²⁴ though robust validation is still awaited.

Conclusion

The expansion of telemedicine use in NMDs and development of clinically relevant but easy-to-use remote monitoring systems has potential to improve patient access to expert care, even in situations where direct face-to-face access is interrupted, as in the recent pandemic, or where scarce resources or geography prevents patient access to specialist care. Going forward, telemedicine might expand the availability of high-quality specialist care to patients in low-income societies, who hitherto have had little access. Recent developments in effective treatment can also be seen as an obligation on global medicine to explore how inequality in provision can be mitigated — telemedicine technology may advance us one step in this direction. •

M. S. Damian, MD, FEAN, FNCS, works at the Essex Cardiothoracic Centre, in Basildon, UK, and Prof. P. Laforet, MD, PhD, works in the Neurology Department, Raymond Poincaré Hospital, APHP, Garches, APHP, FHU PHENIX, Centre de référence des maladies neuromusculaires Nord Est Ile-de-France in Filnemus.