Cross-cultural adaptation of the SWAL-QOL and the Sydney Swallow Questionnaire (SSQ) into French-Canadian and preliminary assessment for their use in an oculopharyngeal muscular dystrophy (OPMD) population.

PURPOSE: Patient-reported outcomes (PRO) assessing dysphagia are an essential component of clinical trials to consider how patients feel and function in response to treatments. The selected PRO needs to be translated in several languages using a systematic process ensuring its validity and equivalence for use in multicenter clinical trials. The main objectives were to translate the SWAL-QOL and the Sydney Swallow Questionnaire (SSQ) into French Canadian (SWAL-QOL-FC and SSQ-FC) and to assess their appropriateness for patients with oculopharyngeal muscular dystrophy (OPMD). METHODS: A forward- and back-translation process was followed including independent mother-tongue translators followed by committee review. Known-groups validity was assessed by comparing scores of OPMD French-Canadian participants (n = 21) known to differ in dysphagia severity according to the 80-ml drinking test score. A Mann-Whitney test was used to compare the mean scores. Cognitive interviews were conducted later on to ensure a posteriori cultural equivalence among French-Canadian participants (n = 28). RESULTS: Evidences of adequate known-groups validity was shown for the SSQ-FC. Only two domains out of 10 of the SWAL-QOL-FC (burden and eating duration) showed adequate known-groups validity. In addition, the difference in the mean composite score was not significant. Several conceptual equivalence issues were found in both questionnaires as a result of the cognitive interviews. CONCLUSION: This study provided evidence that the SSQ-FC presents better validity than the SWAL-QOL-FC in a small sample size of OPMD participants. The findings of the cognitive interviews suggest the need to develop an OPMD-specific questionnaire to capture better the whole spectrum of disease severity.

Patient-reported disease burden in oculopharyngeal muscular dystrophy.

INTRODUCTION: There is currently little evidence regarding oculopharyngeal muscular dystrophy (OPMD) disease burden reported by patients. In this study we aim to elicit direct patient input regarding OPMD disease burden. METHODS: We conducted semistructured interviews with 25 participants with genetically confirmed OPMD and a wide range of disease duration (15 ± 8 years). Using the Framework Technique, themes and categories were then extracted. RESULTS: Analyses revealed 7 themes (physical impact, mental impact, social impact, perception of progression, treatment perceptions, coping strategies, and access to disease information), encompassing 27 categories of OPMD disease burden. The most frequent categories were related to dysphagia, coping strategies for dysphagia, and impaired mobility. DISCUSSION: This study demonstrates the importance of considering, when providing clinical care, the broad range of coping strategies patients use to deal with OPMD symptoms, especially dysphagia, to properly assess limitations and monitor real disease progression.

The requirement for a disease-specific patient-reported outcome measure of dysphagia in oculopharyngeal muscular dystrophy.

INTRODUCTION: There is no patient-reported outcome (PRO) questionnaire specifically designed to assess oropharyngeal dysphagia in oculopharyngeal muscular dystrophy (OPMD). To select a suitable questionnaire, content validity of the existing questionnaires must be assessed. This study sought (1) to identify dysphagia-related symptoms in OPMD and (2) to assess content validity of currently available PRO for the assessment of dysphagia severity in OPMD. METHODS: A two-step literature review was conducted of dysphagia-related symptom identification and oropharyngeal dysphagia-related PRO. Symptoms were validated with an expert panel by using a Delphi survey. Content validity of PRO questionnaires was documented through content analysis. RESULTS: Ten PRO questionnaires were identified. None of the questionnaires cover the entire symptom spectrum in OPMD and thus lack content validity. DISCUSSION: The development and validation of a new PRO questionnaire to assess dysphagia in OPMD is required to establish the importance of symptomatic relief from new treatments. Muscle Nerve 59:445-450, 2019.

Dysphagia-related quality of life in oculopharyngeal muscular dystrophy: Psychometric properties of the SWAL-QOL instrument.

INTRODUCTION: The Swallowing Quality of Life instrument (SWAL-QOL) is a patient-reported outcome measure of swallowing-related quality of life (SR-QoL). Its psychometric properties in oculopharyngeal muscular dystrophy (OPMD) are not known. METHODS: We administered the SWAL-QOL to U.S. OPMD Registry participants. We described SR-QoL profiles and assessed reliability and validity. RESULTS: The mean composite score in 113 individuals with OPMD was 54.4 ± 20.7, indicating moderate impairment. Severe impairments were observed in eating duration, burden, and fatigue scales. Internal consistency reliability of all scales was found to be satisfactory, and 9 of 10 scales demonstrated adequate test-retest reliability. Data confirmed 86% of hypotheses, supporting construct validity. The SWAL-QOL limitations in OPMD include: floor/ceiling effects in 7 of 10 scales and low specificity of sleep, fatigue, and communication scales for dysphagia. CONCLUSIONS: SR-QoL is reduced in OPMD. Given several limitations of the SWAL-QOL, development of an improved dysphagia-specific QoL instrument for OPMD is warranted. Muscle Nerve 56: 28-35, 2017.

The relationship between physical symptoms and health-related quality of life in oculopharyngeal muscular dystrophy.

INTRODUCTION: Oculopharyngeal muscular dystrophy (OPMD) causes ptosis, dysphagia, and limb weakness. Health-related quality of life (HRQoL) and its relationship to physical symptoms was investigated. METHODS: The 36-item Short Form (SF-36) was completed by 89 participants in the U.S. OPMD Registry. Multiple hierarchical regression was used to determine the relative contributions of dysphagia severity and lower extremity functional impairment to the physical (PCS) and mental (MCS) components of the SF-36. RESULTS: HRQoL was reduced in OPMD compared with population norms. Lower extremity functional impairment explained a significant proportion of variance in PCS and MCS. Dysphagia symptom severity explained a moderate amount of variance only in MCS. Dysphagia symptom severity had the strongest associations with general health perception and social functioning domains. CONCLUSIONS: Lower extremity functional impairment in OPMD deserves attention due to its large influence on HRQoL. Both generic and dysphagia-specific measures are necessary to assess HRQoL in OPMD.

Safety of botulinum toxin for dysphagia in oculopharyngeal muscular dystrophy.

INTRODUCTION: Despite multiple studies reporting marked benefit of botulinum toxin (BTX) for treatment of cricopharyngeal dysphagia, little is known about its safety for this indication. We examined the safety of cricopharyngeal BTX for dysphagia in oculopharyngeal muscular dystrophy (OPMD). METHODS: We reviewed records of patients with OPMD who received cricopharyngeal BTX. RESULTS: Twenty-four patients underwent 66 procedures. Overall adverse event frequency was 44%. The most common adverse events were dysphonia (24%) and worsened dysphagia (14%). Logistic regression demonstrated that dose was a significant predictor of worsened dysphagia (P = 0.036) and of the composite event of dysphonia or worsened dysphagia (P = 0.009). There was a nonsignificant trend for dose as a predictor of dysphonia (P = 0.073). 59% of procedures were associated with symptomatic improvement. CONCLUSIONS: While BTX appears to be beneficial for treatment of dysphagia in OPMD, caution is warranted when injecting the cricopharyngeus muscle due to dose-related risk of dysphonia or worsened dysphagia.

Introducing the Dysphagiameter: a novel patient-reported outcome measure for evaluating dysphagia in oculopharyngeal muscular dystrophy - from conceptual framework to initial development.

Oculopharyngeal muscular dystrophy (OPMD) is a rare late-onset muscle disease associated with progressive dysphagia. As there was no patient-reported outcome measure specific for the assessment of dysphagia in OPMD, the Dysphagiameter was developed. The Food and Drug Administration guidance was followed. In Phase 1, a systematic literature review and an expert consultation were conducted to identify the concepts of interest. It was decided that the instrument should assess difficulty swallowing using pictures of foods of various textures (part A) and impact of dysphagia on activities and participation (part B), as defined by the International Classification of Functioning, Disability and Health. In Phase 2, focus groups (n = 3) and online surveys (n = 55) were conducted to generate the items. Then, the food items for part A were selected and grouped into 17 textures by a panel of registered dietitians. Cognitive interviews were conducted (n = 23) to refine the instrument and assess its clarity and comprehensiveness. The final draft included 82 food items assessing the capacity to swallow foods and drinks (part A) and 10 items assessing the impact of dysphagia on activities and participation (part B). Item reduction and assessment of psychometrics properties, using Rasch analysis, are ongoing as part of Phase 3.

Hip flexion weakness is associated with impaired mobility in oculopharyngeal muscular dystrophy: a retrospective study with implications for trial design.

Oculopharyngeal muscular dystrophy (OPMD) is a rare myopathy for which validated outcome measures are lacking, posing a barrier to clinical trials. Our goal was to identify factors associated with impaired mobility in OPMD in order to guide development of surrogate endpoints in future clinical trials. One hundred forty-four individuals with OPMD were included in this retrospective, single-center study. We made novel use of parametric time-to-event analysis to model age at initial use of assistive device for ambulation. We hypothesized that limb weakness and other markers of disease severity are associated with earlier use of assistive devices. 23.6% of individuals (34/144) progressed to use of assistive devices (mean age 66.0 ± 9.6 y). Earlier age at assistive device was associated with hip flexion Medical Research Council grade ≤3 (p <0.0001), earlier disease onset (p <0.0001), and lack of blepharoptosis surgery (p = 0.011). Markers of dysphagia severity were not associated with earlier progression to assistive devices. Our study is the first to show a statistical association between hip flexion weakness and impaired mobility in OPMD, indicating that hip flexion strength could be explored as a surrogate endpoint for use in clinical trials. Since severity of disease features may be discordant within individuals, composite outcome measures are warranted.

Manual versus electric vacuum aspiration for early first-trimester abortion: a controlled study of complication rates.

OBJECTIVE: Manual vacuum aspiration is an alternative to electric suction curettage for first-trimester elective abortion. Although many studies have demonstrated that manual vacuum aspiration is safer than sharp curettage for abortion, only a few studies have directly compared it with electric suction curettage. These studies proved the methods to be equally effective and acceptable but were too small to adequately compare safety. We compared immediate complication rates for abortions performed by manual and electric vacuum aspiration. METHODS: We conducted a retrospective cohort analysis of all women undergoing elective abortion at up to 10 weeks' gestation at San Francisco General Hospital over a 3.5-year period. A total of 1726 procedures were included: 1002 manual and 724 electric vacuum aspirations. Clinical data were collected from medical records. Rates of uterine reaspiration and other immediate complications occurring at our institution were compared. RESULTS: We found no difference in the rate of uterine reaspiration after abortions performed with the manual or electric suction device (2.2% versus 1.7%, respectively, P =.43). We had 80% statistical power to detect a 2% difference in uterine reaspiration rates with an microa error of.05. Overall major complication rates were 2.5% with manual and 2.1% with electric suction curettage, P =.56. Multivariable regression analyses controlling for potential confounders showed no difference in uterine reaspiration rates (electric odds ratio [OR] = 0.71, 95% confidence interval [CI] 0.32, 1.6) or overall complications (electric OR = 0.81, 95% CI 0.40, 1.7). CONCLUSION: Manual vacuum aspiration is as safe as electric suction curettage for abortions at up to 10 weeks' gestation. Expanded use in an office setting might increase abortion access.

Systematic review: efficacy and safety of medical marijuana in selected neurologic disorders: report of the Guideline Development Subcommittee of the American Academy of Neurology.

OBJECTIVE: To determine the efficacy of medical marijuana in several neurologic conditions. METHODS: We performed a systematic review of medical marijuana (1948-November 2013) to address treatment of symptoms of multiple sclerosis (MS), epilepsy, and movement disorders. We graded the studies according to the American Academy of Neurology classification scheme for therapeutic articles. RESULTS: Thirty-four studies met inclusion criteria; 8 were rated as Class I. CONCLUSIONS: The following were studied in patients with MS: (1) Spasticity: oral cannabis extract (OCE) is effective, and nabiximols and tetrahydrocannabinol (THC) are probably effective, for reducing patient-centered measures; it is possible both OCE and THC are effective for reducing both patient-centered and objective measures at 1 year. (2) Central pain or painful spasms (including spasticity-related pain, excluding neuropathic pain): OCE is effective; THC and nabiximols are probably effective. (3) Urinary dysfunction: nabiximols is probably effective for reducing bladder voids/day; THC and OCE are probably ineffective for reducing bladder complaints. (4) Tremor: THC and OCE are probably ineffective; nabiximols is possibly ineffective. (5) Other neurologic conditions: OCE is probably ineffective for treating levodopa-induced dyskinesias in patients with Parkinson disease. Oral cannabinoids are of unknown efficacy in non-chorea-related symptoms of Huntington disease, Tourette syndrome, cervical dystonia, and epilepsy. The risks and benefits of medical marijuana should be weighed carefully. Risk of serious adverse psychopathologic effects was nearly 1%. Comparative effectiveness of medical marijuana vs other therapies is unknown for these indications.

The NIH Office of Rare Diseases Research patient registry Standard: a report from the University of New Mexico's Oculopharyngeal Muscular Dystrophy Patient Registry.

Patient registries remove barriers to performing research by assembling patient cohorts and data in a systematic, efficient, and proactive manner. Consequently, registries are a valuable strategy for facilitating research and scientific discovery. Registries for rare diseases are arguably even more valuable since there is difficulty in assembling cohorts of adequate size for study. Recently, the NIH Office of Rare Diseases Research created a rare disease registry Standard to facilitate research across multiple registries. We implemented the Standard for the Oculopharyngeal Muscular Dystrophy patient registry created at the University of New Mexico Health Sciences Center. We performed a data element analysis for each Common Data Element defined in the Standard. Problems included the use of previous HL7 versions, non-structured data types, and a recent update to the Standard. Overall, the Standard is an excellent first step toward standardizing patient registries to facilitate work on broader questions and promote novel interdisciplinary collaborations.