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A literature review of studies using qualitative research to explore chronic neuromuscular disease.

ABSTRACT

Although most neuromuscular disease research articles reflect traditional quantitative approaches, qualitative methods are becoming more prevalent in the neuromuscular literature. Arguably, qualitative research provides rich data that may be used to generate patient-centered outcome measures or influence current standards of care. The purpose of this article is to explore the qualitative literature pertaining to individuals and families living with chronic neuromuscular disease in order to suggest implications for practice. Fifty-six qualitative articles addressing seven research themes including Illness Experience; Work, Recreation, and Services; Assisted Ventilation; Caregiving; Genetics; Communication and Information Seeking; and Palliative Care were identified.

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The use of qualitative methods is becoming more widely accepted in the biomedical literature (Greenhalgh & Taylor, 1997). However, although most research studying neuromuscular disease uses quantitative approaches, qualitative methods are emerging as important tools for studying the impact of chronic neuromuscular disease on patients and their families. Arguably, the patients' perspectives of living with a chronic, progressive disease and the impact of symptom management on quality of life are informing standards of care.

Neuromuscular disease is a general term given to a group of disorders that affect the muscles, neuromuscular junction, and the peripheral nervous system. Symptoms of neuromuscular disease may include muscle weakness of the extremities, numbness and tingling, double vision, difficulty swallowing, and respiratory problems. This review details qualitative research in a subset of chronic neuromuscular disease populations including the muscular dystrophies and motor neuron disease (MND). Both MND and muscular dystrophy may involve weakness, respiratory failure, and fatigue.

MND includes spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) or Lou Gehrig's disease. ALS is a progressive, degenerative disease causing muscle weakness, respiratory problems, speech and swallowing difficulties, loss of mobility, and fatigue. Death typically occurs 3-5 years after diagnosis. SMA is an infantile onset hereditary disorder characterized by muscle weakness and respiratory failure. Both ALS and SMA are caused by motor neuron degeneration.

Whereas individuals with Becker muscular dystrophy, limb girdle muscular dystrophy (LGMD), oculopharyngeal muscular dystrophy (OPMD), and fascioscapulohumeral muscular dystrophy (FSHD) are included in the analysis of some articles, most included studies focus on the experiences of those living with Duchenne muscular dystrophy (DMD) and myotonic dystrophy (DM). DMD, an X-linked recessive disease, is primarily a pediatric condition affecting males, although the introduction of assisted ventilation is prolonging life expectancy into the fourth decade. Boys with DMD are typically wheelchair bound by the age of 12, and they can expect to experience cardiac and respiratory problems. DM is a multisystemic disease that affects the heart and respiration in addition to the central nervous system, the eyes, and the endocrine system. Some individuals with DM may also experience cognitive impairment and a lack of initiative.

There is currently no cure for neuromuscular conditions, and there are limited treatments available to manage symptoms. Many neuromuscular conditions are inherited and progressive, resulting in a host of social and physical implications for individuals and their families. However, to date, much of the literature devoted to the study of neuromuscular disease reflects the biomedical model, and there are relatively few studies that describe the individual perspective of living with a chronic and progressive neuromuscular disease.

Purpose

The purpose of this literature review is to synthesize the evidence from qualitative studies researching individuals and families living with chronic neuromuscular conditions to identify needs and issues to inform healthcare professionals and researchers.

Methods

CINAHL, EMBASE, PsychInfo, Scopus, and PubMed were searched using the term qualitative with neuromuscular, muscular dystrophy, motor neuron disease, myasthenia gravis, amyotrophic lateral sclerosis, peripheral neuropathy, and myopathy. The search was not limited by date. Titles and abstracts were scanned to determine their relevance to qualitative research in neuromuscular populations. Because interviews were the most frequent qualitative method cited, a second search was conducted using the term interview with the original keywords. Articles were included if they (a) primarily used qualitative methods (interviews, focus groups, participant observation, narrative, and so forth), (b) reported on the experiences of individuals and families living with neuromuscular disease, (c) were included in peer-reviewed journals, and (d) were written in English. All selected articles were hand searched to identify other relevant studies.

Unpublished theses and articles interviewing participants solely using structured clinical or psychiatric assessments were excluded. Articles pertaining to postpolio syndrome were excluded because of the controversy surrounding the uncertain etiology of and vague diagnostic criteria for the syndrome. Furthermore, articles about neuromuscular illness secondary to other conditions (i.e., HIV or diabetic or chemotherapy-induced neuropathies) were not included. Given that the purpose of this review is to synthesize qualitative studies pertaining to the experience of individuals and caregivers living with neuromuscular disease, studies exploring professional experience and those using qualitative methods only to create or validate outcome measures are beyond the scope of this article. Each article was read in its entirety and coded with a word or phrase that best identified the theme(s) of the research.

Findings

Fifty-six qualitative research articles were identified, resulting in seven research themes including Illness Experience; Work, Recreation, and Services; Assisted Ventilation; Caregiving; Genetics; Communication and Information Seeking; and Palliative Care. Some articles include more than one research theme. The publication dates span 37 years (1972-2009). Most qualitative neuromuscular articles are related to individuals with MND and their caregivers, and research studying boys and young men with DMD and their caregivers make up the bulk of the muscular dystrophy literature. However, articles referring to populations with DM, OPMD, LGMD, FSHD, and other muscular dystrophies are also represented. No qualitative studies related to myasthenia gravis (MG) were found, thus identifying a gap in the neuromuscular literature.

Illness Experience

The illness experience literature describes the physical and psychological impact of symptoms on individuals living with neuromuscular disease. Furthermore, coping mechanisms for adjusting to life with neuromuscular disease were also identified. Throughout the literature, a number of themes regarding the illness experience were found including loss of control, relief about having a diagnosis, loss of identity and independence, uncertainty about the future, fear, adaptation, and living in the moment (Bostrom & Ahlstrom, 2005; Brown & Addington-Hall, 2008; Forsberg, Ahlstrom, & Holmqvist, 2008; Hugel, Grundy, Rigby, & Young, 2006).

Descriptions about symptoms and their impact on daily life were captured in the literature. Participants living with OPMD, a late onset condition causing ptosis and dysphagia, identified that their symptoms negatively impacted them physiologically, psychologically, and socially (Krause-Bachand, & Koopman, 2008). Individuals with DM identified fatigue, a lack of initiative, and changing facial appearance due to muscle wasting, ptosis, and balding to be problematic symptoms (Bostrom & Ahlstrom, 2004), and participants with MND described muscle wasting, loss of mobility, and difficulty breathing (Brown & Addington-Hall, 2008). Fear about the progressive nature of symptoms caused distress about future complications (Bostrom & Ahlstrom, 2005; Krause-Bachand & Koopman, 2008), and a subset of individuals with MND continuously worried about loss of function (King, Duke, & O'Connor, 2009).

Similarly, findings illustrating the psychological impact and decreased quality of life caused by deteriorating symptoms were included in a number of studies across neuromuscular disease populations (Bostrom & Ahlstrom, 2004; Foley, O'Mahony, & Hardiman, 2007; Lamb & Peden, 2008; Natterlund, Sjoden, & Ahlstrom, 2001). The need for assistive devices and personal assistance with activities of daily living, forced retirement, moving into a handicapped accessible home, and stressed personal relationships were issues identified by those living with muscular dystrophy (Bostrom & Ahlstrom, 2004). Finally, isolation resulting from progressive symptoms coupled with the fear of social judgment was a common theme in several studies of those with muscular dystrophy and MND (Bostrom & Ahlstrom, 2004; King et al., 2009; Krause-Bachand & Koopman, 2008; Mah, Thannhauser, McNeil, & Dewey, 2008).

Participants in a number of studies identified coping mechanisms to help them manage their symptoms and adjust to living with their condition (Lamb & Peden, 2008; Natterlund et al., 2001). These adaptations might include surgical interventions (Krause-Bachand & Koopman, 2008), assistive devices, or behavioral responses. Spirituality and faith played an important role for some (Foley et al., 2007), as did looking at photographs and thinking about happy memories (Hughes, Sinha, Higginson, Down, & Leigh, 2005; Young & McNicoll, 1998). Interestingly, humor, particularly black humor, was identified as an important coping mechanism (King et al., 2009; Young & McNicoll, 1998). Denial was also used by some individuals with MND to cope with their disease progression (Young & McNicoll, 1998).

In addition, some individuals with neuromuscular conditions may lower their expectations about their physical function and choose to focus their energies elsewhere (Brown & Addington-Hall, 2008; Foley et al., 2007). For example, a young man with DMD considered it a "waste of time" to think about work or education (Gibson, Zitzelsberger, & McKeever, 2009, p. 559) and instead chose to focus on his relationships and having fun. Also, individuals and families cope with neuromuscular disease by living in the moment (Gibson et al., 2009; Natterlund et al., 2001; Young & McNicoll, 1998), making the most of their current situations, by expressing the notion that there are people who are worse off (Krause-Bachand & Koopman, 2008; Mah et al., 2008; Natterlund et al., 2001) and by maintaining control (Foley et al., 2007). Social involvement and optimism were important components of living successfully with SMA (Lamb & Peden, 2008).

Work, Recreation, and Services

Arguably, physical activity, social outlets, volunteer work, or paid employment have the potential to improve the quality of life for those living with chronic disease. For example, participants with SMA and MND identified a need to contribute to society (Lamb & Peden, 2008; McNaughton, Light, & Groszyk, 2001). However, few articles explore the work and recreation needs and practices of those living with neuromuscular conditions. Only one qualitative study researching the concerns of families, students, and teachers of school participation for children with neuromuscular conditions was identified (Strong & Sandoval, 1999). Five individuals with MND described that employment provided them with a social outlet that prevented them from dwelling on their condition. However, these individuals were aware of barriers to successful employment including their physical health, a lack of access to assistive devices, and the attitudes of others (McNaughton et al., 2001). Moreover, as their condition progressed, individuals often had to leave their jobs, and McCabe, Roberts, and Firth (2008a) found that this had both positive and negative consequences. For instance, individuals felt that, although they had lower stress levels and more free time to socialize, they had limited financial resources to participate in activities (McCabe, Roberts, & Firth, 2008b).

Young boys and men with DMD identified three main components to their daily life including personal care, solitary activities like playing video games or surfing the Internet, and public outings (Gibson, Young, Upshur, & McKeever, 2007; Gibson et al., 2009). As such, these studies found that young men with DMD tend to experience boredom and isolation. The Golden Freeway Project was instituted to provide computers to 79 DMD families in the United Kingdom (Soutter et al., 2004) in an effort to improve social inclusion and access to information. Results found that computers both strengthened family relationships and improved the boys' social standing. Also, although some parents of boys with DMD may consider the need for a wheelchair as the "beginning of the end" (Webb, 2005, p. 391), they understood that a wheelchair might help their son maintain his independence. Similarly, young people in the United Kingdom identified that power wheelchairs gave them more fieedom to pursue social activities (Evans, Neophytou, de Souza, & Frank, 2007). In fact, wheelchair sports were identified as an important leisure activity for boys with DMD (Gibson et al., 2007).

Participants with a variety of muscular dystrophies report that their inability to participate in spontaneous activities like going to the movies without assistance or having their freedom restricted by inclement weather negatively impacted their quality of life (Bostrom & Ahlstrom, 2004). Participants with MND found that they had to stop or modify leisure activities they previously enjoyed. For example, "hunting changed to bird watching, and travel was modified to mall outings or watching travel documentaries" (Young & McNicoll, 1998). Functional decline may be further complicated by treatment strategies.

Assisted Ventilation

Assisted ventilation is commonly used to treat respiratory symptoms for neuromuscular disease patients. Assisted ventilation can either be noninvasive (masks or nasal cannula) or invasive (intubation), and it has been shown to improve life expectancy for individuals with DMD (Eagle et al., 2002) and MND (Bromberg, Forshew, Iaderosa, & McDonald, 1996). Hirano, Yamazaki, Shimizu, Togari, and Bryce (2006) found that economic, social, and cultural factors may influence the decision for individuals and families to elect to pursue assisted ventilation. Moreover, it is important to ensure that patients and their families are involved in discussions about treatment with assisted ventilation from the beginning (Ingadottir & Jonsdottir, 2006). A subset of Canadian parents feel that instituting assisted ventilation for their child with neuromuscular disease was an obvious choice because of the potential for their child to experience health benefits and an increased quality of life (Mah et al., 2008). However, there is a considerable difference of opinion among 13 Canadian MND patients about assisted ventilation (Young, Marshall, & Anderson, 1994). Whereas some consider assisted ventilation to be a way of controlling their symptoms, others believe it may negatively impact their quality of life and they consider dependence on a machine "unnatural" (p. 256).

Fifteen families of children requiring assisted ventilation felt that assisted ventilation may be beneficial, because it provides a sense of security that their loved one's respiratory needs are being cared for (Mah et al., 2008). However, assisted ventilation can cause a considerable amount of stress and burden for family members (Bromberg et al., 1996; Carnevale, Alexander, Davis, Rennick, & Troini, 2006; Gelinas, O'Connor, & Miller, 1998; Heaton, Noyes, Sloper, & Shah, 2005; Mah et al., 2008; Moss et al., 1996). In fact, some MND caregivers expressed anger and resentment over the assisted ventilation process (Gelinas et al., 1998). In particular, families need to provide constant surveillance, and they worry about complications including power failures, mechanical malfunctions, skin breakdown, and choking (Mah et al., 2008). In addition, the financial burden can be tremendous (Bromberg et al., 1996). It is significant that all 13 participants in the Young, Marshall, and Anderson (1994) study endorsed that assisted ventilation negatively impacted their caregivers. Whereas a young man with DMD considered his ventilator to be an extension of his physical body (Gibson et al., 2007), many patients experience stigma and embarrassment because of their assisted ventilation. In addition, loss of autonomy because of an increased need for assistance coupled with the physical burden of the equipment (Brooks et al., 2004) may negatively impact an individual's quality of life. Ingadottir and Jonsdottir (2006) studied a variety of individuals using assisted ventilation, one of whom had an undescribed neuromuscular condition, and found that the benefits of assisted ventilation highly correlate with the patients' acceptance of ventilatory treatment.

Caregiving

As illustrated by the assisted ventilation literature, the progressive nature of symptoms causes individuals with neuromuscular disease to become increasingly dependent on others for their care. Consequently, the neuromuscular literature reflects the importance of understanding the caregiving experience. In particular, individuals with MND stressed the importance of social support, namely, their family and caregivers (Fanos, Gelinas, Foster, Postone, & Miller, 2008; Hugel et al., 2006). Isolation, suffering, sorrow, and guilt were recurrent themes throughout the neuromuscular caregiving literature (Bostrom, Ahlstrom, & Sunvisson, 2006; Firth, Gardner-Medwin, Hosking, & Wilkinson, 1983; Gravelle, 1997). In particular, caregivers grieved their loved one's progressive loss of function, feared for the future, and worried about the genetic status of subsequent generations (Bostrom et al., 2006; Gravelle, 1997; Mah et al., 2008). Parents of children with neuromuscular disease reported feeling guilty that they gave their nonaffected children less attention and that these children often became responsible for a portion of the caregiving (Firth, Gardner-Medwin, Hosking & Wilkinson, 1983). This is similar to findings by Mah et al. (2008), who found that the priorities of other family members come second to those of the child with neuromuscular disease.

In addition, caregivers reported a lack of social support and services and noted that their own social circles and activities were limited because of their caregiving duties (Ray & Street, 2006). Furthermore, caregivers noted the financial burden (Herz, McKinnon, & Butow, 2006) of having a loved one with a chronic neuromuscular condition, including the cost of equipment and the need to renovate the home to make it accessible. Findings from studies with MND caregivers suggest that they experience constant fatigue, the need to balance their relationship with their loved one and his or her deteriorating body, and emotional strain. (Herz et al., 2006; Ray & Street, 2006).

Gravelle (1997) studied the experiences of 11 parents caring for children with progressive illness, including those caring for a child with DMD. An illness trajectory was formed based on the findings, and parents noted that with time they accepted their child's condition and drew strength from the caregiving process. This study also highlighted the burden placed on women as caregivers and the resulting burnout that may occur. A study of 53 DMD families living in the United Kingdom also identified that lifting and transferring issues, in addition to their sons' emotional or behavioral problems, added to the burden of caregiving (Firth et al., 1983). Furthermore, these parents noted that the delay in receiving a diagnosis was a negative part of their experience with healthcare providers. Parental caregivers of children with a disability identified the need to support their child's social growth in addition to promoting traditional healthy lifestyle behaviors (Antle, Mills, Steele, Kalnins, & Rossen, 2008).

The importance of a strong support system was emphasized by a variety of patient groups (Lamb & Peden, 2008). Furthermore, Webb (2005) studied 15 parents of children with DMD and found that parents used several strategies to cope including taking it "one day at a time" (p. 386), trying to live life as normally as possible, and being proactive about their son's care and need for services. These findings are similar to those of Bregman (1980), who lived with six DMD families for a time to observe their activities.

Genetics

Several studies explored the issue of living with a hereditary disease and the experiences of genetic testing (Bostrom & Ahlstrom, 2005; Emery, Watt, & Clack, 1972; Fanos, Gelinas, & Miller, 2004; Firth & Wilkinson, 1983; Parsons & Clarke, 1993; Williams & Schutte, 1997). Individuals either living with or carrying the gene for a neuromuscular condition found it difficult to discuss their status with their children and relatives (Krause-Bachand & Koopman, 2008; Williams & Schutte, 1997). In fact, participants found that talking to their children about the implications of the disease and their risks for inheriting OPMD to be more difficult than living with the condition. In addition, those with other forms of muscular dystrophy may vigilantly look for symptoms in their children while keeping these fears secret (Bostrom & Ahlstrom, 2005).

Those at risk for hereditary neuromuscular disease need to weigh the pros and cons of undergoing a genetic test. In particular, those at risk for familial ALS articulated a number of benefits (including the hope of being gene negative and access to information to inform medical and reproductive decisions) and detriments (guilt, the lack of an effective treatment or cure, and genetic discrimination) for genetic testing (Fanos, Gelinas, & Miller, 2004). Similarly, 69 parents of boys with DMD identified ethical dilemmas with neonatal screening including the lack of a treatment and the risk of psychological distress or feelings of rejection toward an affected child (Firth & Wilkinson, 1983). However, these parents also believed that neonatal screening might lead to support and counseling.

Families living with DMD and those at risk for familial ALS found genetic information confusing and felt that they did not receive appropriate information or follow-up with healthcare professionals (Fanos et al., 2004; Firth, 1983; Firth & Wilkinson, 1983). Similarly, a group of 48 women at risk for being carriers of the DMD gene expressed uncertainty when trying to articulate and make sense of the statistical probability of their carrier status (Parsons & Clarke, 1993). Also, a sample of female carriers for DMD from the United Kingdom divulged that results of their genetic testing contributed to the breakdown of their marriages (Emery, Watt, & Clack, 1972). Williams and Schutte (1997) studied 34 adults at risk for carrying the DMD gene to explore the negative and positive aspects of carrier testing. Their findings show that genetic testing results have emotional implications for both carriers and noncarriers, and there may be difficulty disclosing genetic information to insurance providers or family members (Williams & Schutte, 1997), especially considering that one's positive genetic status may mean that other relatives are at risk (Bostrom & Ahlstrom, 2005).

Communication and Information Seeking

Only four articles were found specifically detailing the communication or information seeking needs and processes of individuals with MND (Murphy, 2004; O'Brien, 2004) and DMD (Beresford & Sloper, 2003; Fitzpatrick & Barry, 1990), but a number of articles addressed this aspect of living with a chronic neuromuscular disease. As their disease progresses, those with MND may require devices to augment their speech (Murphy, 2004). Murphy used video recordings and semistructured interviews to study communication strategies and barriers and facilitators to effective communication for 15 participants with MND and their identified caregivers. Interestingly, Murphy found that participants wanted to use their own speech as long as possible, because they did not perceive communication devices to be able to reflect their unique inflections and style of speech, and they believed that devices negatively impacted personal interactions. Moreover, patients found it difficult to learn to use communication devices, and their physical limitations made them cumbersome to use. Participants were able to delay the use of communication devices because their caregivers typically understood their needs and wants.

Communication styles and information seeking behaviors for those with DMD and MND were studied to understand how and why these groups seek information about their condition. Adolescents with a variety of conditions including DMD were interviewed to determine their beliefs about communicating with physicians (Beresford & Sloper, 2003). Young people reported that it was difficult to talk with their doctor if they felt rushed during the encounter or if they did not have an established relationship with their health practitioner (Beresford & Sloper, 2003). Also, whereas some participants thought that their parents' presence in the exam room made them more apt to talk with their doctor, many found that their parents tended to dominate conversations; thus, the presence of parents might make them less likely to discuss personal or sensitive issues. Some of the difficulty young men find communicating with healthcare professionals may be related to findings that families may not communicate effectively about DMD (Fitzpatrick & Barry, 1990). A study comparing American and Irish families living with DMD (Fitzpatrick & Barry, 1990) found that some families consider lack of communication about the progressive nature of symptoms to be a coping mechanism, whereas others reported that the inability or unwillingness to talk about DMD caused a significant amount of family stress (Fitzpatrick & Barry, 1990).

Computers may play a significant role in coping with chronic neuromuscular disease. Fanos et al. (2008) found that researching the latest scientific research and joining Internet communities offered hope to some individuals with MND. In contrast, a subset of individuals newly diagnosed with MND purposely chose not to obtain information about their condition or they delegated information seeking to family members. The decision not to seek information may be a coping mechanism to deal with a terminal diagnosis, or it could be a means of denial (Hugel et al., 2006).

Palliative Care

For the purposes of this review, palliative care is defined as an end-of-life process. The palliative care literature for neuromuscular disease largely represents the needs and beliefs of individuals with MND and their caregivers. However, one article (Dawson & Kristjanson, 2003) studied caregivers for individuals with MND (n = 5) and DMD (n = 11). The authors found that individuals and their caregivers would like coordinated care to help them navigate resources and options. Findings also indicate that participants grieve each disease stage and the deterioration of their loved one, fear each crisis, and identified a lack of information and resources. Participants also communicated a need for respite services for caregivers. Moreover, families identified a need for healthcare professionals to include palliative care in the care plan and requested increased training for hospital staff about the nuances and complexities of MND and DMD. The finding about the necessity of palliative care discussions early in the disease process was echoed in a study of 121 German MND caregivers (Neudert, Oliver, Wasner, & Borasio, 2001).

Interviews with MND families about end-of-life decision making found that family members feel distressed, exhausted, or depressed when making health-related decisions for their loved ones (Fanos et al., 2008). Moreover, these participants identified a need for healthcare professionals to keep them informed about the disease process, particularly when their loved ones' death is imminent. Importantly, they felt a need to know they had helped their loved one and that they had spiritual support for end-of-life decisions.

Interestingly, findings illustrate that MND and DMD families differ in their beliefs about palliative care. MND caregivers believed that palliative care "cushions" (Dawson & Kristjanson, 2003, p. 41) the progressive nature of the disease, whereas DMD carers emphasized the importance of quality of life, symptom control, and planning for the future. Whereas families understand that muscular dystrophy may limit life expectancy, discussions about palliative care conflicted with their hopes for the future (Dawson & Kristjanson, 2003). This finding echoes results from a study of MND patients and physicians who perceive discussions about living wills to imply imminent death (Burchardi, Rauprich, Hecht, Beck, & Volhnann, 2005). These patients preferred to use living wills as a means to identify their wishes for disease management rather than articulating their plan for end of life.

A study exploring experiential issues in palliative care (Bolmsjo, 2001) done with eight individuals with MND found that participants described a lack of control in the face of disease progression resulting in anxiety and suicidal ideation. For some participants, euthanasia was an option deemed to exert greater control. A need for appropriately timed information (Bolmsjo, 2001; Bolmsjo & Hermeren, 2001; Dawson & Kristjanson, 2003) was identified to counter fears and to prevent families from feeling overwhelmed. In addition, Burchardi et al. (2005) found that general information presented to the general public about living wills was easier to digest than disease-specific information. Furthermore, a person-centered approach grounded in respect for persons was also identified (Bolmsjo, 2001) as important when discussing palliative care issues with individuals and families. Parents of sons with DMD found that healthcare professionals often find it difficult to discuss end-of-life issues with them, and many families avoid the topic altogether (Parker, Maddocks, & Stem, 1999). Furthermore, one family studied by Parker, Maddocks, and Stern (1999) thought that palliative care services should be initiated well in advance of the end-of-life phase of their child's condition, because families living day to day with the child may not notice the disease progression and deterioration.

Interviews exploring palliative care with 16 participants living with MND found that individuals experience hope for the future despite the devastating progression of MND (Fanos et al., 2008). In particular, participants endorsed a hope for a cure in their lifetime and stated that spiritual beliefs and social support sustained them. In addition, their ability to live for the moment and to adapt to their changing physical capacities compliments the ability of healthcare professionals to provide palliation services.

Discussion

Implications for Health Professionals

Person-Centered Approach

Findings from this literature review emphasize the personal experience of living with a chronic neuromuscular disease. Furthermore, these findings suggest that health professionals need to be mindful about the communication style they adopt with each patient and that a "one-size-fits-all" treatment approach may not be suitable. For example, healthcare professionals may need to use caution when discussing assisted ventilation and palliative care issues with neuromuscular populations. Some individuals and their families equate assisted ventilation and palliative care discussions with loss of hope and imminent end of life (Burchardi et al., 2005; Dawson & Kristjanson, 2003). In contrast, some find that discussing treatment goals and end-of-life options help them exert control over an illness with a variable course. To counter the different perceptions among individuals, healthcare professionals might consider including a dialogue about assisted ventilation, living wills, and advanced care directives as standard of care and to review plans at each follow-up visit. It might be beneficial to consult the palliative care team to build rapport and dialogue with patients about advanced directives well ahead of need.

Practitioners interacting with individuals with DMD and their families also need to be cognizant of their interactions with patients as they consider the evolving needs of this population. Beresford and Sloper (2003) illustrate the importance for healthcare professionals to be sensitive to their communication style when interacting with adolescents with DMD. Adolescents felt disempowered when doctors took a condition-centered approach rather than a person-centered approach. Further findings suggest that adolescents would like to choose who is present during the clinical visit, and that simplified language and a person-centered approach facilitates communication between doctors and patients. As such, professionals working with DMD families need to be mindful of parent and child interactions (Soutter et al., 2004) and the needs of this population as they transition into adulthood. If possible, it might be advantageous to create a separate clinic for men with DMD that would allow them to develop a trusting relationship with a nurse with whom they can discuss issues including their health, employment, education, and sexuality.

Healthcare professionals also need to consider the impact of a new neuromuscular disease diagnosis on individuals and families (Bolmsjo & Hermeren, 2001) and to understand the "grief process" that an individual and his or her family may go through after a diagnosis (Webb, 2005). Sixty-nine parents of boys with DMD reported dissatisfaction with the way healthcare professionals communicated the diagnosis, and they felt that the information they received was insufficient (Firth, 1983; Firth & Wilkinson, 1983; Firth et al., 1983). Because the information about a new diagnosis may be difficult to digest, discussions with newly diagnosed patients might revolve around support and immediate needs rather than detailed information about the disease and prognosis (Hugel et al., 2006). Similarly, given that individuals may find it difficult to cope with and discuss their diagnosis or genetic status, a referral to a genetic counselor, psychologist, or a social worker may be warranted. It may also be prudent to schedule a follow-up appointment after the initial diagnosis is made to give patients and families time to absorb the diagnosis and return with their questions (Firth, 1983).

The Illness Experience literature is rich with data from participants suggesting coping mechanisms ranging from spirituality to humor, and patients should be encouraged to try a variety of behavioral strategies to cope with their diagnosis. Nurses can support a patient's spiritual needs simply by listening (Harrison, 1993) if a patient endorses spirituality as important and by asking what religious or spiritual resources have previously helped the patient cope (Peri, 1995). Patients should be encouraged to seek solace in their spirituality, and a referral to the hospital chaplain or to the patient's own spiritual leader may be made. In addition, nurses might assess a patient's use of humor as a coping strategy (Simon, 1988) and encourage him or her to participate in activities that nurture this approach. Moreover, nurses may infuse their clinical practice with humor, because humor has been shown to create a positive nurse-patient relationship and to decrease a patient's anxiety and embarrassment (Beck, 1997) during a clinical visit.

As discussed in the literature, it is essential to constantly assess patients' need for (King et al., 2009), understanding of (Webb, 2005), and desire for (O'Brien, 2004) information at each stage of their illness. Understanding about symptoms and management should be assessed at each clinical visit with appropriate interventions and information given based on the patient's needs. A locally held patient education day was a successful way for patients and their families to receive comprehensive information about their condition from a variety of healthcare professionals. In addition, a patient education day provides a venue for patients at all disease stages to voluntarily choose to receive information, address their concerns, and meet other families to exchange information and offer support.

Peer Support

Support group attendance has been linked with a sense of community, acceptance, increased knowledge, improved relationships with family members because of a decreased burden of care, and an overall sense of well-being for the patient (Stewart, Davidson, Meade, Hirth, & Weld-Viscount, 2001; Ussher, Kirsten, Butow, & Sandoval, 2006). Given the burden of chronic neuromuscular disease on patients and families, health professionals should encourage individuals to seek social support. If possible, the health and quality of life of caregivers should also be assessed at clinical visits, because the well-being of caregivers has been found to impact on the health of those they are caring for (Bostrom, Ahstrom, & Sunvisson, 2006). Peer support is crucial for caregivers, because both the Caregiver and Assisted Ventilation literature identified caregiver stress, guilt, and burnout as significant issues. Therefore, it is essential for nurses to be mindful of the burdens of caregiving, particularly that family caregivers may be unwilling to accept respite care and consequently spend most of their time performing care duties (Ray & Street, 2006). Nurses should be aware of community resources, including respite services, and encourage caregivers to take advantage of these services and seek social support.

However, the challenges faced by neuromuscular patients, namely mobility issues, may make support group attendance difficult. In speaking with local DMD families, they acknowledged that attending a support group was increasingly difficult as their boys became wheelchair dependent and more easily fatigued, and it became doubly difficult if the families lived out of town. As a result, few interacted with other DMD families, and they had limited access to information about government and community resources. This may be true for other neuromuscular conditions, like ALS, in which mobility is problematic.

Given the challenges faced by neuromuscular patients, expert neuroscience nurses must serve as gatekeepers between clinical care and community support, and they may need to be creative when suggesting ways for patients and their families to develop support networks. For example, men with DMD might become a resource for younger boys to discuss education, work, and the social issues associated with growing older with DMD (Dr. Craig Campbell, personal communication). Also, because men and boys with DMD are technologically savvy (Gibson et al., 2007, 2009), and computers were shown to improve social inclusion (Soutter et al., 2004), online forums might be a feasible and popular form of support. In addition, technological support resources might be beneficial to other neuromuscular populations whose travel is restricted because of mobility issues. Nurses may encourage patients to refer to Muscular Dystrophy Canada (2010) and the Muscular Dystrophy Association (2010) to find accurate and up-to-date information. These sites also offer social networking opportunities through forums like Facebook, YouTube, and Twitter in addition to chat groups and information about peer support. However, it is important for healthcare professionals to caution patients that information found elsewhere on the Internet may not be credible, and it may be reasonable to arrange follow-up visits solely for discussions that clarify information and provide reputable resources.

As illustrated, the need for neuroscience nurses to vet information and attend to the physical, emotional, and pragmatic needs of patients and their families is crucial. In addition to clinical care, nurses provide support, disseminate the latest research, and are often responsible for researching and implementing government and community assistance programs while helping to secure accessible housing and other social services. Given that attendance at a local support group may be difficult, nurses can encourage individuals to join patient advocacy groups like the Muscular Dystrophy Association and Muscular Dystrophy Canada, apply for services like the Medic Alert bracelet, and provide patients with information about research opportunities.

Continuing Professional Education

Finally, given the relative rarity of chronic neuromuscular disease, it is important for nurses to be advocates for their patients in the community. Individuals at our institution have repeatedly voiced frustration that their condition is misunderstood by the medical community, and one study indicated that a lack of awareness about symptoms led to missed or delayed diagnoses (Hugel et al., 2006). As a result, specialists need to work with general practitioners, nurses, social workers, occupational therapists, speech language pathologists, and other community care professionals to articulate the symptoms and needs of these patient populations. It might be beneficial for neuromuscular specialists, particularly nurses, to provide continuing professional education opportunities for community healthcare providers in addition to "fact sheets" that outline the symptoms and treatments of each disorder that patients can provide to their health practitioners.

Implications for Researchers

Whereas there is a growing body of qualitative research exploring the experiences of individuals and families living with chronic neuromuscular disease, most neuromuscular research is quantitative or biomedical in nature. However, interest in qualitative research might increase and become more accessible in the biomedical literature if researchers give presentations discussing qualitative methods and the potential they have to add richness to statistical data (Gysels, Shipman, & Higginson, 2008). Currently, the neuromuscular literature largely represents individuals living with MND, DMD, and DM, and no qualitative studies with individuals with MG were identified. Thus, there is ample opportunity for researchers to explore the experiences of individuals and families living with MG and other muscular dystrophies such as LGMD, FSHD, and OPMD.

More research needs to be done exploring the work and recreation needs of neuromuscular disease populations. Given that individuals identified the positive impact of work and recreation on their quality of life (Lamb & Peden, 2008; McNaughton et al., 2001), more studies exploring rehabilitation programs and novel exercise approaches (Wenneberg, Gunnarsson, & Ahlstrom, 2004) may improve social and physical functions for those living with neuromuscular disease. Given the increased life expectancy of boys and men with DMD, professionals will need to address their evolving needs. For example, only one study addressed sexuality in this patient population (Gibson et al., 2007). In addition, this study also explored how men with DMD were beginning to take over decision-making duties from their parents and that their hopes for the future included living independently and developing romantic relationships (Gibson et al., 2009). These are important themes that need further exploration in the neuromuscular literature.

Limitations

There are several limitations to this literature review, most notably the exclusion of non-English language articles. Furthermore, a detailed critique of the rigor of the included articles is beyond the scope of this article. Therefore, the neuromuscular qualitative literature warrants a more critical review of the study design, participant selection, data collection, and analysis methods.

Conclusion

Although most research studying neuromuscular disease pertains either to the molecular understanding of the conditions or to quantitative explorations of social factors, there are increasing numbers of qualitative studies researching the experiences of neuromuscular patient populations and their families. Arguably, qualitative methods are beneficial tools to use to explore the individual experience of living with a chronic neuromuscular disease. This knowledge may be translated into using patient experiences and expertise to inform clinical care or to develop disease-specific, patient-centered questionnaires or interventions. Ultimately, a greater understanding of qualitative data among healthcare professionals may encourage researchers to include the patients' and caregivers' voice in the literature and influence clinical care.

Acknowledgments

The author acknowledges the support of her thesis advisors, Shannon L. Venance and Dr. Andrew Johnson. In addition, the critiques offered by Wilma J. Koopman and the author's comprehensive examination advisory committee were invaluable to the preparation of this article.

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DOI: 10.1097/JNN.0b013e3182135ac9

Questions or comments about this article may be directed to Kori A. LaDonna, BA, at kladonna@uwo.ca. She is a PhD candidate at the University of Western Ontario, London, Ontario, Canada.
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Author:LaDonna, Kori A.
Publication:Journal of Neuroscience Nursing
Article Type:Clinical report
Geographic Code:1CANA
Date:Jun 1, 2011
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