Archetypes of incomplete stories in chronic illness medical encounters.

OBJECTIVE: During encounters, patients and practitioners engage in conversations to address health concerns. Because these interactions are time-pressured events, it may be inevitable that any story exchanged during these encounters will be incomplete in some way, potentially jeopardizing how quality and safety of care is delivered. In this study, we explored how and why incomplete stories might arise in health interactions. METHODS: Constructivist grounded theory methodology was used to explore how patients and practitioners approach their interactions during encounters. In this two-phase study, we interviewed patients (n = 21) then practitioners (n = 12). RESULTS: We identified three distinct archetypes of incomplete storytelling - the hidden story, the interpreted story, and the tailored story. Measured information sharing, triadic encounters and pre-planned agendas influenced these storylines, respectively. CONCLUSION: Both patient and practitioner participants focused on what each considered important, appropriate, and useful for productive encounters. While incomplete stories may be a reality, educating practitioners about how incomplete stories come about from both sides of the conversation creates new opportunities to optimize interactions at medical encounters for in-depth patient practitioner storytelling.

Getting airtime: Exploring how patients shape the stories they tell health practitioners.

INTRODUCTION: Effective communication during health encounters is known to decrease patient complaints, increase patient adherence and optimise health outcomes. While the aim of patient-centred care is to find common ground, health practitioners tend to drive the encounter, often interrupting patients within the first minute of the clinical conversation. Optimal care for people with chronic illnesses requires individuals to interact with health practitioners regarding their health concerns, but given these constraints, we know little about how patients strategise conversations with their care providers. This understanding may further our efforts to educate health practitioners and trainees to learn and practice patient-centred care. METHODS: A constructivist grounded theory approach with iterative data collection and analysis was used to explore the processes patients use to present and shape their stories for interactions with health practitioners. Twenty-one patients (n = 16 female; 5 male) representing a variety of chronic illnesses participated in semi-structured interviews. Using the constant comparative method of analysis, salient themes were ascertained. RESULTS: Patients engage in extensive strategic preparations for productive health encounters. From the data, we identified four related elements comprising patients' process of planning, preparing, and strategising for health encounters: deciding to go, organising to get airtime, rehearsing a game plan, and anticipating external forces. By focusing on the extensive preparatory work patients engage in, our study expands the dimensions of how we understand illness-related work. Assembling personal health information, gathering disease information and achieving equanimity represent the dimensions of this 'health interaction work'. CONCLUSION: The work patients engage in for health encounters is noteworthy yet often invisible. And work that is unseen may also be undervalued. Acknowledging, illuminating and valuing patients' preparatory work for health encounters add to how we understand patient-centred care, and this offers new targets for us to effectively teach and deliver it.

Autoethnography as a Strategy for Engaging in Reflexivity.

Reflexivity is a key feature in qualitative research, essential for ensuring rigor. As a nurse practitioner with decades of experience with individuals who have chronic diseases, now embarking on a PhD, I am confronted with the question "how will my clinical experiences shape my research?" Since there are few guidelines to help researchers engage in reflexivity in a robust way, deeply buried aspects that may affect the research may be overlooked. The purpose of this paper is to consider the affordances of combining autoethnography (AE) with visual methods to facilitate richer reflexivity. Reflexive activities such as free writing of an autobiographical narrative, drawings of clinical vignettes, and interviews conducted by an experienced qualitative researcher were analyzed to probe and make visible perspectives that may impact knowledge production. Two key themes reflecting my values-fostering advocacy and favoring independence and autonomy were uncovered with this strategy.

Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America.

OBJECTIVES: To approximate the rate of familial myasthenia gravis and the coexistence of other autoimmune disorders in the patients and their families. DESIGN: Retrospective cohort study. SETTING: Clinics across North America. PARTICIPANTS: The study included 1032 patients diagnosed with acetylcholine receptor antibody (AChR)-positive myasthenia gravis. METHODS: Phenotype information of 1032 patients diagnosed with AChR-positive myasthenia gravis was obtained from clinics at 14 centres across North America between January 2010 and January 2011. A critical review of the epidemiological literature on the familial rate of myasthenia gravis was also performed. RESULTS: Among 1032 patients, 58 (5.6%) reported a family history of myasthenia gravis. A history of autoimmune diseases was present in 26.6% of patients and in 28.4% of their family members. DISCUSSION: The familial rate of myasthenia gravis was higher than would be expected for a sporadic disease. Furthermore, a high proportion of patients had a personal or family history of autoimmune disease. Taken together, these findings suggest a genetic contribution to the pathogenesis of myasthenia gravis.

Consensus-based care recommendations for adults with myotonic dystrophy type 1.

PURPOSE OF REVIEW: Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline exists to inform the care of these patients, and most do not have access to multidisciplinary care centers staffed by experienced professionals, creating a clinical care deficit. RECENT FINDINGS: The Myotonic Dystrophy Foundation (MDF) recruited 66 international clinicians experienced in DM1 patient care to develop consensus-based care recommendations. MDF created a 2-step methodology for the project using elements of the Single Text Procedure and the Nominal Group Technique. The process generated a 4-page Quick Reference Guide and a comprehensive, 55-page document that provides clinical care recommendations for 19 discrete body systems and/or care considerations. SUMMARY: The resulting recommendations are intended to help standardize and elevate care for this patient population and reduce variability in clinical trial and study environments.

Survey of Canadian Myotonic Dystrophy Patients' Access to Computer Technology.

BACKGROUND: Myotonic dystrophy type 1 is an autosomal dominant condition affecting distal hand strength, energy, and cognition. Increasingly, patients and families are seeking information online. An online neuromuscular patient portal under development can help patients access resources and interact with each other regardless of location. It is unknown how individuals living with myotonic dystrophy interact with technology and whether barriers to access exist. We aimed to characterize technology use among participants with myotonic dystrophy and to determine whether there is interest in a patient portal. METHODS: Surveys were mailed to 156 participants with myotonic dystrophy type 1 registered with the Canadian Neuromuscular Disease Registry. RESULTS: Seventy-five participants (60% female) responded; almost half were younger than 46 years. Most (84%) used the internet; almost half of the responders (47%) used social media. The complexity and cost of technology were commonly cited reasons not to use technology. The majority of responders (76%) were interested in a myotonic dystrophy patient portal. CONCLUSIONS: Patients in a Canada-wide registry of myotonic dystrophy have access to and use technology such as computers and mobile phones. These patients expressed interest in a portal that would provide them with an opportunity to network with others with myotonic dystrophy and to access information about the disease.

A Review of Azathioprine-Associated Hepatotoxicity and Myelosuppression in Myasthenia Gravis.

OBJECTIVES: Myasthenia gravis (MG) is an autoimmune disorder in which antibodies interfere with neuromuscular transmission. Azathioprine (AZA) is an immunosuppressant frequently used for treatment of various autoimmune conditions, including MG. The literature suggests that the rates of AZA-associated hepatotoxicity and myelosuppression in MG are highly variable. Published studies have not formally analyzed their pattern, severity, timing, and/or recovery. We assessed the prevalence, pattern and timing of AZA associated toxicity in a large group of MG patients. METHODS: We identified 113 patients with MG with AZA-associated toxicity among 571 managed with this immunosuppressant. The timing of when toxicities occurred as well as pattern of laboratory abnormalities was assessed. RESULTS: The overall prevalence of hepatotoxicity and myelosuppression was 15.2% and 9.1%, respectively. The most common pattern of hepatotoxicity seen was gamma-glutamyl transpeptidase (GGT) enzyme elevation in 67.8% of patients. Of note, 21.2% of patients with myelosuppression had normocytic anemia, 17.3% had pancytopenia, and another 17.3% developed macrocytic anemia. CONCLUSIONS: AZA-associated hepatotoxicity and myelosuppression in MG are not uncommon and may be underrecognized depending on the timing, frequency, and specific tests ordered for blood work monitoring.

Hope, Coping, and Quality of Life in Adults with Myasthenia Gravis.

UNLABELLED: Myasthenia gravis significantly impacts quality of life. However, the relationship between hope, coping, and quality of life (QOL)in myasthenia patients has not been studied (Kulkantrakorn & Jarungkiatkul, 2009; Raggi et al., 2010). OBJECTIVE: The aim of this study was to explore the relationship between hope, coping, and quality of life in adults with myasthenia gravis. DATA COLLECTION: Subjects with MG (n = 100) completed six questionnaires, including a demographic profile, the Myasthenia Gravis Activities of Daily Living Scale (MG-ADL), Herth Hope Index (HHI), Jalowiec Coping Scale (JCS), Myasthenia Gravis Quality-of-Life Scale (MG-QOL15), and Short Form Health Survey (SF-36v2). RESULTS: Mean hope scores indicated a high level of hope. An optimistic coping style was the most common and effective coping strategy identified by subjects. Positive thinking and humour were also frequently used strategies. Participants identified quality of life as good tolerability, above general population mental well-being, and below general populationphysical well-being. Participants who identified good quality of life had low scores on the MG-QOL15 scale and high scores on the SF36v2. Hope and independence for activities of daily living were found to correlate with improved quality of life and mental well-being(p < 0.001). Age and length of illness were not significant factors. There was no mediation by well-being or quality of life in the relationship between hope and coping. Hope and coping were not important factors for well-being or quality of life. CONCLUSION: Nurses caring for adults with myasthenia gravis should use interventions that continue to support hope, quality of life, and coping throughout the unpredictable and chronic course of MG.

Hard to Swallow: A Phenomenological Exploration of the Experience of Caring for Individuals With Myotonic Dystrophy and Dysphagia.

PURPOSE: Myotonic dystrophy (DM1), a genetic, multisystemic disorder, is the most prevalent adult form of muscular dystrophy. Dysphagia is a common symptom that may be difficult to diagnose and treat and can be associated with increased morbidity and mortality. Preexisting cognitive impairment or apathy, both well described in the DM1 literature, may contribute to management challenges. Caregivers may become important for managing a family member's swallowing dysfunction. Although clinicians place great importance on swallowing difficulties, it is unknown how dysphagia impacts patients and their caregivers. Therefore, the purpose of this study was to explore the experiences of caregivers living with those with DM1and dysphagia. METHODS: An interpretive phenomenological approach was used to study the lived experience of six caregivers for individuals with DM1 and dysphagia. Audio-taped semistructured interviews were used for data collection, and data were analyzed using van Manen's steps for phenomenological analysis. FINDINGS: Despite the potential for dysphagia to cause morbidity and mortality in individuals with DM1, caregivers did not describe this as a problematic symptom. Instead, they highlighted more debilitating symptoms like fatigue or weakness and discussed the caregiving experience. Themes pertaining to participants' lived body, lived relationality, lived time, and lived space were identified. CONCLUSIONS: Healthcare providers need to balance issues of clinical concern with those that are important for individuals and their family members. Assessments of caregiver knowledge and burden at each clinic visit may be warranted.

A genome-wide association study of myasthenia gravis.

IMPORTANCE: Myasthenia gravis is a chronic, autoimmune, neuromuscular disease characterized by fluctuating weakness of voluntary muscle groups. Although genetic factors are known to play a role in this neuroimmunological condition, the genetic etiology underlying myasthenia gravis is not well understood. OBJECTIVE: To identify genetic variants that alter susceptibility to myasthenia gravis, we performed a genome-wide association study. DESIGN, SETTING, AND PARTICIPANTS: DNA was obtained from 1032 white individuals from North America diagnosed as having acetylcholine receptor antibody-positive myasthenia gravis and 1998 race/ethnicity-matched control individuals from January 2010 to January 2011. These samples were genotyped on Illumina OmniExpress single-nucleotide polymorphism arrays. An independent cohort of 423 Italian cases and 467 Italian control individuals were used for replication. MAIN OUTCOMES AND MEASURES: We calculated P values for association between 8,114,394 genotyped and imputed variants across the genome and risk for developing myasthenia gravis using logistic regression modeling. A threshold P value of 5.0×10(-8) was set for genome-wide significance after Bonferroni correction for multiple testing. RESULTS: In the overall case-control cohort, we identified association signals at CTLA4 (rs231770; P=3.98×10(-8); odds ratio, 1.37; 95% CI, 1.25-1.49), HLA-DQA1 (rs9271871; P=1.08×10(-8); odds ratio, 2.31; 95% CI, 2.02-2.60), and TNFRSF11A (rs4263037; P=1.60×10(-9); odds ratio, 1.41; 95% CI, 1.29-1.53). These findings replicated for CTLA4 and HLA-DQA1 in an independent cohort of Italian cases and control individuals. Further analysis revealed distinct, but overlapping, disease-associated loci for early- and late-onset forms of myasthenia gravis. In the late-onset cases, we identified 2 association peaks: one was located in TNFRSF11A (rs4263037; P=1.32×10(-12); odds ratio, 1.56; 95% CI, 1.44-1.68) and the other was detected in the major histocompatibility complex on chromosome 6p21 (HLA-DQA1; rs9271871; P=7.02×10(-18); odds ratio, 4.27; 95% CI, 3.92-4.62). Association within the major histocompatibility complex region was also observed in early-onset cases (HLA-DQA1; rs601006; P=2.52×10(-11); odds ratio, 4.0; 95% CI, 3.57-4.43), although the set of single-nucleotide polymorphisms was different from that implicated among late-onset cases. CONCLUSIONS AND RELEVANCE: Our genetic data provide insights into aberrant cellular mechanisms responsible for this prototypical autoimmune disorder. They also suggest that clinical trials of immunomodulatory drugs related to CTLA4 and that are already Food and Drug Administration approved as therapies for other autoimmune diseases could be considered for patients with refractory disease.

Myotonic dystrophy (DM1) and dysphagia: the need for dysphagia management guidelines and an assessment tool.

Myotonic dystrophy (DM1) is the most prevalent muscular dystrophy occurring in adulthood. DM1 is a multi-systemic disorder resulting in early-onset cataracts, cardiac rhythm problems, muscle weakness, ptosis, and cognitive and psychiatric manifestations. Dysphagia is one of the most problematic symptoms of DM1 because it may cause weight loss, aspiration pneumonias or sudden death. The purpose of this review is to describe the characteristics of DM1 that make dysphagia management problematic, and to address the need for disease-specific guidelines and a clinical tool to aid in diagnosing and managing dysphagia in this population.

Muscle strength and fatigue in patients with generalized myasthenia gravis.

Myasthenia gravis (MG) is characterized by fatigue and fluctuating muscle weakness resulting from impaired neuromuscular transmission (NMT). The objective of this study was to quantify, by direct measurement of muscle force, the strength and fatigue of patients with MG. A maximal voluntary isometric contraction protocol of shoulder abductors was used in conjunction with conventional fatigue and disease-severity instruments. Results from patients with (D-MG) and without (ND-MG) decrement on repetitive nerve stimulation (RNS) of the spinal accessory and axillary nerves were compared with healthy controls. Patients with MG reported greater fatigue than controls. Muscle strength was lowest in the D-MG group, followed by the ND-MG group and controls. Normalized shoulder abduction fatigue and recovery values did not differ between the D-MG and ND-MG groups or controls. The RNS decrement appears to relate best to disease severity and muscle weakness but not to objective measures of fatigue in this population.

Top 10 needs of people with multiple sclerosis and their significant others.

The purpose of this study was to identify the needs of patients with multiple sclerosis (MS) and their significant others. A quantitative questionnaire, developed from focus groups and consisting of 75 needs statements, was administered to 353 MS patients and 240 significant others. Analysis produced rankings of the 10 most important needs of both groups. Rankings by the MS patients and significant others were similar. Three themes emerged. Psychosocial and other personal needs (relationship with physicians, the MS healthcare team, family, and friends) were ranked with high frequency. Information needs (information regarding MS or available support) and financial security were also ranked as important. The data validate the importance of interdisciplinary care for the MS population.

Prediction of aspiration in myasthenia gravis.

Prediction of the risk of dysphagia and aspiration is important in the management of myasthenia gravis (MG). We assessed the ability of four bedside clinical tools to predict aspiration in 20 MG patients. Patients completed a self-directed questionnaire, underwent clinical neurological assessment and a bedside speech pathology assessment, and were assessed with the quantitative myasthenia gravis (QMG) score. The ability of these tools to predict aspiration was compared with the results of a modified barium swallow. Seven patients aspirated, 4 silently. The total self-directed questionnaire score, two specific questions on the self-directed questionnaire, the prediction based on clinical neurological assessment, and the QMG bulbar subset score all correlated with aspiration. The speech pathology prediction was highly sensitive but less specific. This pilot study shows that simple clinical tools can predict which MG patients are at risk of aspiration.

Clinic-based needs assessment of individuals with multiple sclerosis and significant others: implications for program planning--psychological needs.

The purpose of this study was to identify the psychological/psychosocial needs of patients with multiple sclerosis (MS) and their significant others (SOs) who attended an MS clinic. A quantitative questionnaire, developed from focus groups, consisted of 23 needs statements in the psychological/psychosocial needs category. Participants were randomly selected from the clinic's database. The questionnaire was completed by 353 MS patients and 240 significant others. Content analysis of the psychological category produced four themes: general psychological needs, psychological needs related to specific resource needs, psychological needs related to interaction with the medical community, and psychological needs statements displaying a difference between MS and SO responses. The data indicate the importance of psychological intervention in the care of MS patients and its implications for program planning.

A prospective assessment of the characteristics of dysphagia in myasthenia gravis.

Fatigable muscle weakness is the clinical hallmark of the human autoimmune disease myasthenia gravis (MG). Weakness of the oropharyngeal muscles produces dysphagia, which continues to be a major source of morbidity in MG. In this study we prospectively assessed 20 patients with myasthenia gravis who described difficulties with swallowing. Videofluoroscopic assessment showed disordered swallowing in all, with abnormalities in oral, pharyngeal, and, to a lesser extent, oral preparatory phases. Of the 20 studied, 7 aspirated, most of whom did so silently. Laryngeal penetration occurred in many more patients. The characteristics of dysphagia in MG are described and compared with other neurological disorders that can produce dysphagia.