Neuromuscular Disease Patients Research Articles

Neuromuscular diseases and their cardiac manifestations under the spectrum of cardiovascular imaging.

Neuromuscular diseases (NMDs) include a broad spectrum of disorders that affect motor unit in every possible site, extending from the cell body of peripheral nerves to the muscle. The different lesion sites make this group of inherited disorders difficult to diagnose. Many NMDs, especially those involving skeletal muscles, can present significant cardiovascular complications, ranging from rhythm disturbances to the development of dilated or hypertrophic cardiomyopathy. Heart disease represents a major cause of morbidity and mortality among NMD patients, underlining the vital need for further familiarization with the pathogenesis and assessment of cardiac involvement. Cardiovascular imaging is the cornerstone for the evaluation of heart disorders in NMDs, with conventional echocardiography still offering a portable, affordable, and easily accessible solution. Meanwhile, newer echocardiographic techniques such as speckle tracking imaging in combination with cardiac magnetic resonance add new insights into further substrate characterization. The purpose of this review is to offer a brief presentation of the main NMDs and their cardiovascular complications, as well as the presentation of data that highlight the importance of cardiovascular imaging in early diagnosis, monitoring, and prognosis of these patients. Lastly, the authors provide a simple guide about which clinical features, imaging findings, and follow-up plan to adopt in each myopathic disorder.

Myocardial strain analysis by cardiac magnetic resonance 3D feature-tracking identifies subclinical abnormalities in patients with neuromuscular disease and no overt cardiac involvement.

Cardiovascular magnetic resonance (CMR) is valuable for the detection of cardiac involvement in neuromuscular diseases (NMDs). We explored the value of 2D- and 3D-left ventricular (LV) myocardial strain analysis using feature-tracking (FT)-CMR to detect subclinical cardiac involvement in NMD. The study included retrospective analysis of 111 patients with NMD; mitochondrial cytopathies (n = 14), Friedreich's ataxia (FA, n = 27), myotonic dystrophy (n = 27), Becker/Duchenne's muscular dystrophy (BMD/DMD, n = 15), Duchenne's carriers (n = 6), or other (n = 22) and 57 age- and sex-matched healthy volunteers. Biventricular volumes, myocardial late gadolinium enhancement (LGE), and LV myocardial deformation were assessed by FT-CMR, including 2D and 3D global circumferential strain (GCS), global radial strain (GRS), global longitudinal strain (GLS), and torsion. Compared with the healthy volunteers, patients with NMD had impaired 2D-GCS (P < 0.001) and 2D-GRS (in the short-axis, P < 0.001), but no significant differences in 2D-GRS long-axis (P = 0.101), 2D-GLS (P = 0.069), or torsion (P = 0.122). 3D-GRS, 3D-GCS, and 3D-GLS values were all significantly different to the control group (P < 0.0001 for all). Especially, even NMD patients without overt cardiac involvement (i.e. LV dilation/hypertrophy, reduced LVEF, or LGE presence) had significantly impaired 3D-GRS, GCS, and GLS vs. the control group (P < 0.0001). 3D-GRS and GCS values were significantly associated with the LGE presence and pattern, being most impaired in patients with transmural LGE. 3D-FT CMR detects subclinical cardiac muscle disease in patients with NMD even before the development of replacement fibrosis or ventricular remodelling which may be a useful imaging biomarker for early detection of cardiac involvement.

Multiple breath washout lung function reveals ventilation inhomogeneity unresponsive to mechanical assisted cough in patients with neuromuscular disease

BackgroundRespiratory involvement defines the clinical outcome of neuromuscular diseases (NMD). The lung clearance index (LCI) is a marker of lung ventilation inhomogeneity and indicates small airway disease. It is determined by mulitple breath washout lung function (MBW). The merit of LCI is undisputed for primary lung diseases like cystic fibrosis, but its role in NMD is unclear.MethodsWe investigated the role of MBW in patients with NMD and the effect of two different tracer gases and cough assist devices on the LCI. Patients and controls performed MBW with nitrogen (N2) and sulfur hexafluoride (SF6), whereas the latter analysis was repeated after the use of a cough assist device in the NMD group. LCI was compared to forced vital capacity (FVC) and peak cough flow (PCF).Results24 NMD patients (12 Duchenne Muscular Dystrophy, 8 Spinal Muscular Atrophy, 4 other NMDs) and 15 healthy controls were enrolled. In the NMD group, overall LCI N2 was higher than LCI SF6 (9.67 ± 1.56 vs. 8.71 ± 1.47; mean ± SD; p < 0.033). In controls, LCI N2 did not differ significantly from LCI SF6 (7.03 ± 0.37 vs. 7.05 ± 0.67; p = 0.882). Both LCI N2 and LCI SF6 were significantly higher in NMD patients as in controls (9.67 ± 1.56 vs. 7.03 ± 0.37, p < 0.001, and 8.71 ± 1.478.65 vs. 7.05 ± 0.67, p < 0.001). In the NMD group, both LCI N2 and LCI SF6 showed a negative correlation to FVC (r = − 0.525; p = 0.008 and r = − 0.526; p = 0.008, respectively) and PCF (r = − 0.590; p = 0.002 and r = − 0.641; p = 0.001, respectively). LCI N2 and LCI SF6 correlated well in the NMD group. LCI SF6 did not change significantly after the use of the cough assist in NMD patients (n = 22; 8.65 ± 1.52 pre vs. 8.79 ± 2.03 post, p = 0.667).ConclusionLung involvement of patients with neuromuscular diseases goes beyond weakness of respiratory muscles. MBW with both N2 and SF6 is suitable to detect ventilation inhomogeneity in NMD patients with respiratory impairment. Cough assist devices with low to moderate pressure levels do not immediately improve the LCI.

Changing Paradigm of Care of Neuromuscular Diseases in the COVID-19 Pandemic: A Scoping Review

In the current clinical scenario, people living with neuromuscular diseases (NMD) represent a vulnerable category with a high risk of severe course of COVID-19. Management of NMDs has become a challenge since most of them are chronic, disabling, progressive, and/or require immunosuppressive drugs. This scoping review aims to bring forth crucial queries for general neurologists and specialists dealing with NMD patients in the time of COVID-19 and highlight the research areas in a novel pandemic situation.

P 7 SARS-CoV2 infection causes a worsening of the modified ranking scale (mRS) in patients with neuromuscular diseases – first results of the German covid19-nme registry

Background: Patients with neuromuscular diseases (NMD) are classified as risk groups for a potentially severe course of a SARS-CoV-2 infection. An online registry (www.covid19-nme.com) was developed to gather information about the severity of COVID19, a potential progression of NMD through the SARS-CoV-2 infection and the possible influence of medication on the course of the infection.Methods: Since February 2021, patients of all ages (children, adolescents and adults) with NMD and an infection with SARS-CoV-2 have been included in this register. In addition to demographic data, pre-existing diseases and therapies, information about the NMD, the course of the SARS-CoV-2 infection as well as the clinical findings before and after the infection are recorded.Results: So far 94 patients (37% female, age: median 60 years (1-94 years)) from Germany and Austria have been recorded. The diagnoses represent the entire spectrum of NMD: different forms of polyneuropathies (PN) including CIDP and hereditary PN, ICUAW, myasthenic syndromes, motor neuron diseases (SMA and ALS) as well as various muscle diseases such as dystrophinopathies and myotonic syndromes. The collected mRS (measure for description of neurological impairment) depicts a significant worsening after the SARS-CoV2 infection (p = 0.02; Wilcoxon), whereby the patients with ICUAW were excluded from the analysis. The duration of symptoms showed a positive correlation with age (r = 0.343; p = 0.005) and weight (r = 0.291; p = 0.030), but not with the type of NMD. In total, 13 patients deceased due to the SARS-CoV2 infection. The probability of a fatal outcome of COVID19 correlates with increasing age (r = 0.313; p = 0.004) but not the type of NMD. The ventilation situation did not change in NMD patients due to the infection with SARS-CoV2.Summary: The first results of the evaluation of the covid-19.nme registry indicate that the clinical symptoms of NMD progress due to an infection with SARS-CoV2. The underlying cause for this remains unclear. Autoimmunological processes and a possible neurotropy can be considered as pathophysiological mechanisms.

Frailties and critical issues in neuromuscular diseases highlighted by SARS-CoV-2 pandemic: how many patients are still "invisible"?

Almost 90% of neuromuscular diseases (NMDs) are classified as rare diseases, defined as conditions affecting less than 5 individuals in 10.000 (0.05%). Their rarity and diversity pose specific challenges for healthcare and research. Epidemiological data on NMDs are often lacking and incomplete. The COVID-19 pandemic has further highlighted the management difficulties of NMDs patients and the necessity to continue the program of implementation of standard of care. This article summarizes the Italian experience during pandemic.

Short-term effect of air stacking and mechanical insufflation-exsufflation on lung function in patients with neuromuscular diseases.

Air stacking (AS) and mechanical insufflation–exsufflation (MI-E) aim to increase cough efficacy by augmenting inspiratory lung volumes in patients with neuromuscular diseases (NMDs). We studied the short-term effect of AS and MI-E on lung function. We prospectively included NMD patients familiar with daily AS or MI-E use. Studied outcomes were forced vital capacity (FVC), forced expiratory volume in one second (FEV1), and peak expiratory flow (PEF) prior to, immediately after, and up to 2 h after treatment. Paired sample T-test and Wilcoxon signed-rank test was used. Sixty-seven patients participated. We observed increased FVC and FEV1 immediately after AS with a mean difference of respectively 0.090 L (95% CI 0.045; 0.135, p < .001) and 0.073 L (95% CI 0.017; 0.128, p = .012). Increased FVC immediately after MI-E (mean difference 0.059 L (95% CI 0.010; 0.109, p = .021) persisted 1 hour (mean difference 0.079 L (95% CI 0.034; 0.125, p = .003). The effect of treatment was more pronounced in patients diagnosed with Spinal Muscular Atrophy, compared to patients with Duchenne muscular dystrophy. AS and MI-E improved FVC immediately after treatment, which persisted 1 h after MI-E. There is insufficient evidence that short-lasting increases in FVC would explain the possible beneficial effect of AS and MI-E.

Extending brain-computer interface access with a multilingual language model in the P300 speller

ABSTRACT Brain-computer interfaces (BCI) such as the P300 speller have the potential to restore communication to advanced-stage neuromuscular disease patients. Research has improved typing speed and accuracy through innovations including the use of language models. While significant advances have been made, implementations have largely been restricted to a single language, primarily English. It is unclear whether these improvements would extend to other languages that present potential technical hurdles due to different alphabets and grammatical structures. Here, we adapt a language model-based classifier designed for English to two other languages, Spanish and Greek, to demonstrate the generalizability of these methods. Online experimental trials with 30 healthy native English, Spanish, and Greek speakers showed no significant difference between performances using the different versions of the system (66.20 vs. 61.97 vs. 60.89 bits/minute). Extending these methods across languages allows for expanding access to BCI systems to other populations, particularly in the developing world.

MRNA intramuscular vaccination produces a robust IgG antibody response in advanced neuromuscular disease

SARS-CoV-2 vaccines protect against symptomatic and severe COVID-19. The BNT162b2/Pfizer and mRNA-1273/Moderna vaccines represent new vaccine technology relying on administration of mRNA encoding SARS-CoV-2 viral spike protein encased in lipid nanoparticles. The vaccines are administered as two doses into muscle, which elicits a strong response, typically within 14 days after the second dose. Neuromuscular diseases are characterized by the progressive loss of muscle and are often treated with chronic glucocorticoid steroids, both of which may contribute to a blunted immune response to vaccination. Here, we measured IgG antibody content and neutralizing antibody response after mRNA COVID-19 vaccination in non-ambulatory neuromuscular disease patients. After two doses of mRNA COVID-19 vaccine, median anti-receptor binding domain IgG and percent surrogate viral neutralization in non-ambulatory neuromuscular disease samples were significantly elevated similar to healthy vaccinated controls. As in healthy controls, COVID-19 vaccines produce greater antibody levels compared to those with a history of outpatient COVID-19 infection. This data documents that non-ambulatory neuromuscular disease patients respond well to two doses of mRNA COVID-19 vaccine despite low muscle mass and even chronic steroid use.

Experience in neuromuscular diseases in children and adolescents and their comorbidities in a tertiary hospital

IntroductionNeuromuscular diseases include a large group of heterogeneous and rare pathologies that affect different components of the motor unit. It is essential to optimize resources to know the prevalence of comorbidities in the most frequent groups to establish an early multidisciplinary approach in a specialized setting.Patients and methodsRetrospective descriptive study of pediatric and adolescent patients with neuromuscular diseases (NMDs). The Inclusion criteria were NMDs patients with motor neuron involvement divided into three groups, depending on the affected component of the motor unit. Group I: involvement of the motor neuron; Group II: peripheral neuropathies; Group III: myopathies. Demographic variables, association with comorbidities, need for respiratory support, and rehabilitative treatment were collected in each group.ResultsNinety-six patients who met the inclusion criteria were studied. In group I, when compared to the other two groups, a higher incidence of scoliosis (68.3%, p = 0.011), deformity of the rib cage (31.3%, p = 0.0001), chronic respiratory insufficiency (62.5%, p = 0.001) and bronchial aspiration (12.5%, p = 0.03) was detected. In this group, 50%of the patients required non-invasive mechanical ventilation (p = 0.0001). The in-hospital requirement for respiratory physiotherapy was higher in group I (75%, p = 0.001). We observed a higher incidence of scoliosis in Group III compared to Group II.ConclusionsNeuromuscular diseases with motor neuron involvement present more comorbidities and require an early approach after diagnosis to improve prognosis.

Abstract 14046: Psychosocial Impact of Risk Mitigation Strategies and Shielding From COVID-19 in Adults and Children With Early-Onset Neuromuscular Disease and Their Families

Introduction: Patients with early-onset neuromuscular diseases (NMDs) were considered clinically vulnerable to COVID-19 due to assumptions that treatments e.g. corticosteroids, or complications e.g. pre-existing respiratory failure or cardiac disease would increase risk. In the UK, most were advised to ‘shield’ and strictly limit social contact, however it is poorly understood how patients and families approached and responded to this. Methods: In-depth questionnaires specifically designed to meet research aims were completed by telephone between September 17 th and December 31 st 2020 by NMD patients or their parent. Open and closed questions enabled a) quantitative analysis and b) thematic analysis to evaluate reasoning and psychosocial impact. Results: 40 questionnaires were completed: patients were 70% male, aged 2 to 48 years with NMDs e.g. muscular dystrophies, spinal muscular atrophy. 80% (n=32) had long-term non-invasive or tracheostomy ventilation; 20% (n=8) had cardiac involvement. Strict adherence to shielding was initially reported: this included temporary cessation or reduction in external care support in 68% (n=27), leading to increased parental care. Shielding measures were often relaxed due to 1) official guidance, 2) evidence of less severe outcomes in children and NMDs, and 3) unsustainability of limited social contact. Anxiety, fear and worry were the most frequently reported emotions, but level and pervasiveness fluctuated. 75% (n=30) remained “extremely” or “very” worried about risk of COVID-19 to the patient’s health. Concern about hospital attendance during the pandemic and anxiety regarding perceived lack of capacity or access to Intensive care were common. Virtual healthcare access, experienced by 97.5% (n=39), was seen as positive, largely as an interim measure, but was less useful where examination or tests were required. Conclusions: Measures to reduce transmission of COVID-19 have disproportionately affected NMD patients and their families. For most, negative psychosocial impacts have and will continue to improve, particularly due to the success of the vaccination programme. Patients and carers require access to support and up-to-date information to minimise risk of infection and psychological burden.

Immunosuppression and immunization: Vaccination in pediatric patients with neuromuscular diseases treated with steroids or immune-modulating drugs.

Modulating the immune response has proven to be beneficial in different neurologic diseases, even in those not perceived thus far to be autoimmune. Extensive literature search has been done for available data on vaccine safety, efficacy and immunization recommendations in patients with neuromuscular disease in general and when receiving immune-modulating treatments. Vaccinations have been associated with some neuromuscular diseases, but these occurrences are very rare and should not influence the general vaccination recommendations for the pediatric population and for the especially vulnerable patient populations, such as neuromuscular disease patients. Specific guidelines for the immunization of children with neuromuscular diseases in general and those on immune-suppressive treatments were not found, but most guidelines and standards of care for specific neuromuscular diseases recognize and stress the importance of vaccinations, some giving more specific instructions. With just a few exceptions, vaccines are safe in this group of patients and they should receive the same immunizations and according to the same schedule, as all children. Live vaccines should not be administered in patients receiving high dose steroid or immune-modulating drugs such as anti-B cell treatments (rituximab), high dose methotrexate, azathioprine or 6-mercaptopurine. Whenever possible, all live vaccines should be administered prior to long term immune-suppressant treatments. Additional vaccines are recommended in this risk population of children (influenza, pneumococcal, varicella).

A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases

BackgroundDue to their health condition, patients with neuromuscular diseases (NMD) are at greater risk of developing serious complications with COVID-19. The objective of this study was to analyze the prevalence of COVID-19 among NMD patients and the risk factors for its impact and severity during the first wave of the pandemic. Clinical data were collected from NMD-COVID-19 patients, between March 25, 2020 and May 11, 2020 in an anonymous survey carried out by expert physicians from the French Health Care Network Filnemus.ResultsPhysicians reported 84 patients, including: 34 with myasthenia gravis, 27 with myopathy and 23 with neuropathy. COVID-19 had no effect on NMD for 48 (58%) patients and 48 (58%) patients developed low COVID-19 severity. COVID-19 caused the death of 9 (11%) NMD patients. Diabetic patients were at greater risk of dying. Patients with diabetes, hypertension or severe forms of NMD had a higher risk of developing a moderate or severe form of COVID-19. In our cohort, corticosteroids and other immunosuppressants were not significantly associated with higher COVID-19 severity for acquired NMD.ConclusionDuring this period, a small percentage of French NMD patients was affected by COVID-19 compared to the general French population and COVID-19 had a limited short-term effect on them. Diabetes, hypertension and a severe degree of NMD were identified as risk factors of unfavorable outcome following COVID-19. Conversely, in our cohort of patients with acquired NMD, corticosteroids or other immunosuppressants did not appear to be risk factors for more severe COVID-19.

Prognosis of pathologically confirmed Japanese amyotrophic lateral sclerosis, a retrospective hospital-based study

We provide medical care for neuromuscular disease patients as a neuromuscular-disease centre hospital in Hokuriku area of Japan. It is necessary to understand the prognosis for a better patient's QOL. We performed retrospective prognostic study to clarify the clinical course and cause of death in pathologically confirmed amyotrophic lateral sclerosis (ALS) patients.

Teleneurology in a center for neuromuscular diseases during the COVID-19 pandemic.

ObjectiveThe coronavirus disease 2019 (COVID-19) pandemic has urged the adoption of telemedicine services as a measure of greater patients’ safety. This study aims to investigate efficacy and feasibility of teleneurology care for patients with neuromuscular diseases (NMD).MethodsAll patient visits from 4th March 2020 to 27th March 2021, the period of COVID-19 lockdown requiring partial transition to tele-consultation, were reviewed. Demographic data and medical records during the implementation of the “hybrid model” of both remote and in-person visits during COVID-19 era were analyzed and compared to those of the pre-pandemic era.ResultsA total of 2179 tele-consultation contacts for 182 patients (mean age 46.4 years, 42.3% female) were conducted. Tele-consultation was primarily performed by telephone calls. During that period, 1745 telephone calls were conducted, resulting in a 4.5 mean increase/patient compared to 2019. There was a 15.1% decrease in first time in-person consultations compared to 2019. However, the mean number of monitoring visits per person during pandemic was no different from previous years. With the exception of 3 patients with advanced stage of amyotrophic lateral sclerosis, no other patients required an unscheduled appointment or hospitalization for unforeseen reasons related to tele-consultation restrictions.ConclusionMonitoring of NMD patients could benefit from tele-provided multidisciplinary services. The experience gained during COVID-19 pandemic could be useful for further development of tele-medicine.

Diagnostic and Prognostic Value of Cardiovascular Magnetic Resonance in Neuromuscular Cardiomyopathies.

Neuromuscular diseases (NMD) encompass a broad spectrum of diseases with variable type of cardiac involvement and there is lack of clinical data on Cardiovascular Magnetic Resonance (CMR) phenotypes or even prognostic value of CMR in NMD. We explored the diagnostic and prognostic value of CMR in NMD-related cardiomyopathies. The study included retrospective analysis of a cohort of 111 patients with various forms of NMD; mitochondrial: n = 14, Friedreich's ataxia (FA): n = 27, myotonic dystrophy: n = 27, Becker/Duchenne's muscular dystrophy (BMD/DMD): n = 15, Duchenne's carriers: n = 6, other: n = 22. Biventricular volumes and function and myocardial late gadolinium enhancement (LGE) pattern and extent were assessed by CMR. Patients were followed-up for the composite clinical endpoint of death, heart failure development or need for permanent pacemaker/intracardiac defibrillator. The major NMD subtypes, i.e. FA, mitochondrial, BMD/DMD, and myotonic dystrophy had significant differences in the incidence of LGE (56%, 21%, 62% & 30% respectively, chi2 = 9.86, p = 0.042) and type of cardiomyopathy phenotype (chi2 = 13.8, p = 0.008), extent/pattern (p = 0.006) and progression rate of LGE (p = 0.006). In survival analysis the composite clinical endpoint differed significantly between NMD subtypes (p = 0.031), while the subgroup with LGE + and LVEF < 50% had the worst prognosis (Log-rank p = 0.0034). We present data from a unique cohort of NMD patients and provide evidence on the incidence, patterns, and the prognostic value of LGE in NMD-related cardiomyopathy. LGE is variably present in NMD subtypes and correlates with LV remodelling, dysfunction, and clinical outcomes in patients with NMD.

Satisfaction of Telehealth in Patients With Established Neuromuscular Disorders.

Introduction/aims: Determine established neuromuscular disease patients' satisfaction with telehealth during the COVID-19 pandemic.Methods: We received 50 completed Utah telehealth satisfaction surveys from a cohort of 90 from April 2020 to June 2020. Returning neuromuscular disease patients rated seven aspects from 1 (strongly disagree) to 5 (strongly agree): Communication, timeliness of physician, picture quality, sound quality, protection of privacy, the comfort of the physical exam, the ease of healthcare, and whether patients would prefer “in-person” visits despite safety precaution. A favorable response was defined as a response of “Agree” or “Strongly Agree” to the survey questions. An independent t-test, Fisher's or chi-square test were used to compare demographic factors on outcomes for each survey question.Results: The average age was 47.54 ± 20.63, 54% were female, 70% from rural areas, 60% had family present “webside,” and 14% had family present remotely. The majority of patients reported “Agree” or “Strongly Agree” to each survey question assessing their telehealth satisfaction, except for whether patients preferred in-person appointments. Demographic factors, including location and clinical diagnosis, did not influence survey responses.Discussion: The vast majority of established neuromuscular disease patients responded favorably to their telehealth experience during the COVID-19 pandemic.

Povidone-iodine irrigation combined with Vancomycin powder lowers infection rates in pediatric deformity surgery

BackgroundSurgical site infection is a morbid, devastating complication after spinal procedures. Studies have investigated the effect of wound lavage with 3.5% Povidone-iodine solution or the use of intrawound Vancomycin powder. We examined the effect of Povidone-iodine irrigation, intrawound Vancomycin powder, or a combination of both agents in a tertiary care Pediatric Hospital.MethodsWe queried our health system database for patients undergoing spinal surgery over an eight-year span between January 2008 and June 2016 and identified patient cohorts who received no intervention, intrawound Vancomycin alone, Povidone-iodine irrigation alone, or a combination of both agents. Infection rates were determined. The effect of treatment on outcome was analyzed using a logistic regression model.Results475 patients were identified who met study inclusion criteria. 88 non-neuromuscular patients received no intra-operative agent. The surgical site infection (SSI) rate in this group of patients was 10%. For the 194 non-neuromuscular scoliosis patients who received Povidone-iodine and Vancomycin powder, the infection rate was reduced to 0.7%. The SSI rate in the 180 non-neuromuscular patients who were treated with Vancomycin powder alone was 1.4%. 13 patients were treated with Povidone-iodine lavage only, with a small sample size precluding statistical comparison. Infection rate in the 132 neuromuscular disease patients decreased from 14 to 7% overall during this time span: while the odds ratio of infection was reduced in all neuromuscular treatment groups receiving intra-operative measures, statistical significance was not reached in any neuromuscular group studied.ConclusionsA protocol using combined 3.5% weight/volume Povidone-iodine and Vancomycin powder was associated with the lowest infection rate in our non-neuromuscular patient population and should be considered as a low cost intervention in pediatric patients undergoing spinal deformity procedures.Level of evidenceLevel II.

Screening for oropharyngeal dysphagia in adult patients with neuromuscular diseases using the Sydney Swallow Questionnaire.

Oropharyngeal dysphagia is common in patients with neuromuscular diseases (NMDs). Its early recognition is vital for proper management. We tested a large cohort of adult NMD patients for oropharyngeal dysphagia using the Sydney Swallow Questionnaire (SSQ). We also looked for possible differences in characteristics of oropharyngeal dysphagia in various NMD groups and diseases. Finally, we compared results of this screening with those from their corresponding medical records for eventual "clinical history" of dysphagia. We asked patients to fill in the SSQ during follow-up outpatient visits at our neuromuscular reference center. A total score above the cutoff score of 118.5 out of 1700 was indicative of oropharyngeal dysphagia. Of the 304 adult patients assessed for eligibility, 201 NMD patients (96 women and 105 men, aged 49.0 ± 16.2 years) were included and tested in this study. Oropharyngeal dysphagia was detected in 45% of all the NMD patients when using the SSQ, whereas only 12% had a positive medical record for dysphagia. The median SSQ scores for patients with myotonic syndromes (including myotonic dystrophy type 1), with amyotrophic lateral sclerosis, and with facioscapulohumeral dystrophy were above the cutoff score. The SSQ scores obtained revealed distinct oropharyngeal dysphagia characteristics in the different NMD groups and diseases. The SSQ tests positively for oropharyngeal dysphagia in a higher proportion of NMD patients compared with their medical records. The distinct oropharyngeal dysphagia characteristics we revealed in different NMD groups and diseases may help to elaborate adapted clinical approaches in the management of oropharyngeal dysphagia.

Mechanical insufflation-exsufflation and available funding for Canadian adult patients. A Canadian Thoracic Society Position Statement

Many neuromuscular disease patient populations suffer from a weak, inadequate cough, which may lead to respiratory tract infections, respiratory failure, and increased mortality. Hospitalized neuromuscular disease patients are often treated with a mechanical insufflation-exsufflation (MI-E) machine to improve lung volume, promote mucociliary clearance and improve their respiratory health. Many of these patients require MI-E within their homes to maintain the benefits achieved in hospitals. Currently, a resource paper that outlines provincial funding avenues for home MI-E machines does not exist. Accordingly, Canadian Respiratory Health Professionals (CRHP) Leadership Council members formed a working group to propose and collate recommendations and resources for using MI-E in neuromuscular populations at home.