ALS clinical presentation and pathophysiology
Amyotrophic lateral sclerosis (ALS) is a group of rapidly progressive fatal neurological diseases involving the brain and spinal cord. Clinical presentation is phenotypically heterogeneous and depends on the type of onset: limb onset is the most common and the first symptoms include compromised gait and manual dexterity; bulbar-onset ALS patients first experience the symptoms in head and neck region such as slurred speech or difficulty swallowing; there are also rare truncal-abdominal (axial) and respiratory onsets. At least 90% of ALS cases are considered sporadic, which means the disease seems to occur at random with no clearly associated risk factors and no family history of the disease (Qureshi et al, 2006). The pathophysiology mechanisms behind ALS are not clear and may include oxidative stress, protein misfolding and aggregation, skeletal muscle dysfunction, glutamate excitotoxicity, mitochondrial dysfunction, neuroinflammation, and apoptosis (Patel & Hamadeh, 2009). Whilst in the past ALS was considered distinctly a disorder of the motor system, current evidence suggests that some cognitive (ALSci) or behavioural (ALSbi) impairment occurs in up to 50% of cases, and co-morbid dementia (ALS-FTD) occurs in approximately 14% of patients with a new diagnosis of ALS (Phukan et al, 2011). The notion that “pure” ALS and “pure” FTD may present two extremes of one disease continuum (Hardiman & Figlewicz, 2012) is reinforced by identification of transactive response DNA‐binding protein 43 (TDP‐43) as a major pathological substrate underlying both diseases (Ng, Rademakers & Miller, 2014). ALSci and ALS-FTD patients are more severely impaired in executive function, attention, language and memory than the cognitively intact ALS patients. ALS patients with frontotemporal syndrome also had shorter survival times than those without cognitive or behavioural impairment (Oh et al, 2014). Emotional lability (pseudobulbar affect), a symptom frequently correlated with bulbar involvement in ALS, may also be confusing and disruptive, especially when communicating with those who are not aware of the nature of the problem (Hanson, Yorkston, Britton, 2011).
Music therapy potential in multidisciplinary model of ALS care
Considering the multiple and complex needs of people with ALS (PALS), the National Institute for Health and Care Excellence (UK) guideline [NG42] suggests coordinated care using a clinic based, specialist ALS multidisciplinary team approach. American Academy of Neurology recommends MDT model of care where patients are seen by a comprehensive team of health care professionals who each focus on specific health domains including walking, breathing, speaking, eating, activities of daily living, and psychosocial needs during one clinical visit (Plowman et al, 2016). Such team often includes a physician, physical therapist, occupational therapist, speech language pathologist, respiratory therapist, nurse coordinator, and social worker. Additional specialists, such as nutritionists, pulmonologists, gastroenterologists, assistive technology experts, psychologists, palliative care providers, chaplain or priests, may also be present (Majmudar, Wu & Paganoni, 2014). Multidisciplinary ALS care has been shown to increase survival of people with PALS and to improve their mental QoL (Van den Berg et al., 2005).
In the absence of a cure, a wider range of rehabilitation options have to be considered for PALS, enabling them to reach their fullest potential, delaying the disease progression and prolonging lifespan (Paganoni et al, 2015). Music therapy (MT) is the clinical use of music and its elements to accomplish individualized health goals within a therapeutic relationship. Music therapists are allied health professionals who hold a degree and certification in music therapy, have theoretical and practical knowledge of music, human psychology and physiology, and work closely with a multidisciplinary team to provide individualized, evidence-based, problem-oriented treatment for every clinical situation. Growth of scientific knowledge about music perception and production and the effects of these on nonmusical brain and behavior functions in the recent decades enabled music therapists to develop effective clinical techniques to treat cognitive, sensory, and motor dysfunctions that come from human neurologic diseases and allowed for successful application of music therapy principles in neurorehabilitation (Thaut & Höemberg, 2016). Professionally trained music therapists are well equipped to provide symptomatic care for people with neurodegenerative diseases (Magee, 1999), adapting to increasing and changing disability of each patient as the disease progresses, whilst maintaining and developing trusting therapeutic relationship established early in the disease course. Music engages vast network of regions located in both hemispheres of the brain and shares processing components with other functions, such as those involved in language, movement, reasoning and experiencing emotions (Thaut, Mcintosh & Hoemberg, 2015), (Koelsch, 2014), (Peretz & Zatorre, 2005), (Zatorre, Chen & Penhune, 2007). Albeit currently underused, music therapy could be one of the modalities of supportive rehabilitation in ALS (Raglio et al, 2016), potentially providing multiple benefits for people with ALS and their families.
However, research on clinical music therapy applications for ALS is insufficient (Horne-Thompson & Grocke, 2010) and presents significant challenges for a researcher due to heterogeneity of ALS clinical presentation and progression, poor scientific understanding of the disease mechanisms (Bonafede & Mariotti, 2017) and the ethical issues of research involving terminally ill people (Byock, 2003). (Petering & McLean, 2001) suggested that MT could contribute to interdisciplinary ALS care. There is anecdotal evidence that MT increases mind-body connection (Lings, 2014), reduces distressing physical symptoms such as dyspnoea and pain, and associated feelings of loneliness, anxiety and sadness for patients with advanced ALS (Forrest, 2002), is “pleasant and restorative” for PALS with tracheostomy and their families (Kondo, 2017), and provides families affected by ALS with opportunities for shared meaningful activities (Schmid, 2016). (Raglio et al, 2016) conducted the first RCT study of music therapy effect on people living with ALS and found that active music therapy increased communication, improved QoL and decreased the physical symptoms of the disease for people with ALS during hospital stay. (Davies et al, 2016) report that music-assisted relaxation may be a useful strategy to optimize NIV experience for people with ALS.
Based on this overview, we may conclude that, firstly, in most cases, MT is solely available for PALS at the end of life, when natural communication and motor functions are lost or limited, that music therapists are normally not included into multidisciplinary model of ALS care and that the predominant type of music intervention being used for treatment is music listening. Secondly, little research has been done to understand the effects of MT interventions conducted with patients at earlier stages of ALS and no published research addressing the use of music therapy techniques for neurorehabilitation (e.g. supporting motor, cognitive, respiratory, swallowing, speech functions) of PALS has been found, even though empirical evidence and research with other clinical populations (Bukowska et al, 2016), (Gregory, 2002), (Sarkamo et al, 2008), (Tamplin, 2008), (Kim, 2010) suggest that such interventions may be beneficial.
Role of exercise in ALS treatment
Prior to recently the exercise has been discouraged for people with ALS, the recommendation based on the assumption that exercise can lead to muscle fatigue and, hence, to increase patient’s disability (Sinaki & Mulder, 1978). This assumption however is not supported by scientific evidence (Pinto et al., 1999), (Drory et al., 2001), (Dal Bello-Haas et al., 2007), (Lisle & Tennison, 2014), whilst, to the contrary, there is evidence that physical inactivity secondary to ALS may lead to cardiovascular deconditioning, disuse weakness and consequential muscle atrophy (Dal Bello-Haas, Florence, & Krivickas, 2013). Reviews by (Chen, 2008) and (de Almeida et al., 2012) support evidence for moderate exercise in ALS, whilst highlighting importance of supervised, individualized training programs. Cochrane review (Dal Bello-Haas, Florence, & Krivickas, 2013) concluded there was no solid evidence to deem exercise in ALS beneficial or harmful and emphasized the need for further research. Recent data suggests that exercise may be beneficial for cellular and morphological adaptations in motor neuron function and thus may help to maintain motor function (Plowman et al, 2015). Finally, (Lunetta et al., 2016) preliminary RCT results suggest that strictly monitored exercise programs reduce motor deterioration in ALS. Thus, in current clinical practice regular moderate exercise is encouraged for people with ALS to prolong mobility and independence.
Music therapy for management of bulbar and respiratory symptoms in ALS
Even more so than in case of the general physical exercise, there is lasting controversy in regards to the role of exercise in management of bulbar and respiratory ALS symptoms. 93% of people with ALS experience speech impairments and 85% present with swallowing dysfunction at some point during the disease progression (Plowman et al, 2015). Loss of natural communication is regarded by the patients as one of the worst aspects of the disease (Hecht et al., 2002). Respiratory failure has been cited as the leading cause of death (Wolf et al., 2017), and weakening of the respiratory function and adherence to NIV as the leading causes of anxiety of people with ALS (Kaub-Wittemer et al, 2013), (Miller et al, 1999). Patients with dysphagia reported social isolation, fear and decreased mental health (Paris et al., 2013). Dysphagia and malnutrition contribute to 25.9% of ALS mortality and increase the risk of death by 7.7 times (Chio et al., 2009), (Yang et al., 2011). Aspiration pneumonia and dehydration have also been cited among the leading factors contributing to mortality in ALS (Czaplinsky et al, 2006).
Although there is lack of evidence supporting the use of strengthening exercises for improving speech in patients with ALS, there is no evidence of such exercises being harmful (Hanson, Yorkston & Britton, 2011). Emerging evidence suggests that respiratory training may have positive effect on respiratory and swallowing functions of people with ALS (Pinto, Swash and de Carvalho, 2012), (Plowman et al., 2016), (Tabor et al, 2016). There is obvious need for continued research and higher levels of evidence to understand the role of exercise in bulbar and respiratory rehabilitation in ALS (Hanson, Yorkston & Britton, 2011), (Plowman, 2015). Whilst physical and psycho-emotional needs of people with ALS that music therapy can potentially attend to are many and varied, literature overview and empirical evidence suggest that researching the role of individualized, carefully monitored music therapy program to support respiratory and bulbar functions of people with ALS currently constitute the highest priority as these functions directly affect survival.
Study aim and significance
Applied music therapy research in multidisciplinary clinical context allows to systematically look at bulbar and respiratory functions support in ALS, which is important to do, since swallowing, vocalization and breathing are tightly coordinated, and close relationship exists between these processes, in terms of location and activation of the neurons.
This study intends to determine feasibility of a music therapy protocol as intervention to support respiration, cough, swallowing and speech functions of persons with amyotrophic lateral sclerosis (PALS). Since music therapy constitutes a new treatment modality for bulbar and respiratory dysfunction in ALS, the study is focused primarily on safety and tolerability of the treatment protocol.
Music therapy treatment protocol
Upper motor neurons and lower motor neurons deterioration in ALS results in dysarthria and dysphagia of spastic-flaccid type, although actual presentation varies in each patient and changes with the disease progression. Generally, LMN involvement, characteristic of bulbar onset, leads to flaccid presentation, whilst degeneration of UMN, characteristic of spinal onset, results in spasticity of bulbar muscles. Existing evidence supports our idea that muscle relaxation and moderate exercise, as well as learning efficient breathing and voice production techniques, voice care techniques and ALS-specific communication strategies may be helpful, rather than rigorous strengthening oral motor exercises. The protocol serves the following primary therapy objectives:
- to increase breath support,
- to increase muscle relaxation,
- to increase speech rate,
- to prevent / decrease hypernasality,
- to maintain swallowing coordination.
ALS-specific, individualized music therapy protocol was delivered to study participants in their homes twice weekly for the duration of six weeks by the researcher, who is a board certified music therapist and neurologic music therapist, with experience of working with this patient group and in this setting. Facilitating music structures have been composed by the researcher to support cueing, timing and intensity of breathing and vocalization exercises. These structures are regularly modified to suit the unique capabilities, current individual demands and progress of each participant. One familiar song, selected by the participant, is used for each participant in therapeutic singing exercise closing each session.
Assessing bulbar dysfunction in ALS presents additional challenge to a researcher, as the existing tools may be not sensitive enough to reliably measure the change, given that ALS is a rapidly degenerating disease and that the rate of deterioration varies greatly from patient to patient. An array of subjective and objective measurements for bulbar and respiratory changes are used, including standard respiratory tools (FVC, MIP, MEP, PCF), videofluoroscopic swallow study, visual analogue scales for ease of speech and respiration, machine analysis of recorded vocal samples, semi-structured interviews and session presentation, to explore the feasibility of systematic bulbar and respiratory assessment in ALS for future research. Taken into consideration were availability of technical means and local laboratory capacities, as well as local clinical practice standards for measuring respiratory and bulbar functions of ALS patients (such as, for example routinely measuring forced vital capacity rather than slow vital capacity).
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