Laughlin, Ruple S.

AbstractIntroduction/AimsAmyotrophic lateral sclerosis (ALS) is a progressive, fatal, neurodegenerative disorder of motor neurons in which the cause is mostly unknown. Early identification of genetic ALS cases, of which C9ORF72 (C9ALS) is the most frequent, can have important implications for evaluation, prognosis, and therapeutics. Here, we aimed to characterize the clinical and electrophysiological hallmarks of C9ALS and investigate differences from C9ORF72 negative ALS (non‐C9ALS).MethodsWe retrospectively reviewed clinical and electrodiagnostic (EDX) data for all genetically confirmed C9ALS cases seen between 1/1/2012 and 10/1/2020 who met Gold Coast criteria and compared them 1:1 with non‐C9ALS patients within the same time frame.ResultsA total of 99 C9ALS and 99 non‐C9ALS cases were identified. Compared to non‐C9ALS, C9ALS demonstrated higher prevalence in women, lesser racial variability, stronger family history of ALS, and higher frequency of upper motor neuron signs. EDX testing of C9ALS showed higher median sensory nerve and lower fibular compound muscle action potential amplitudes.DiscussionAlthough the differences between C9ALS and non‐C9ALS reached statistical significance in certain nerve conduction parameters, they were not sufficient to discriminate between groups on a case‐by‐case basis. Genetic testing is required to identify C9ALS patients.

AbstractIntroduction/AimsGraduate medical education programs must ensure residents and fellows acquire skills needed for independent practice. Workplace‐based observational assessments are informative but can be time‐ and resource‐intensive. In this study we sought to gather “relations‐to‐other‐variables” validity evidence for scores generated by the Electromyography Direct Observation Tool (EMG‐DOT) to inform its use as a measure of electrodiagnostic skill acquisition.MethodsScores on multiple assessments were compiled by trainees during Clinical Neurophysiology and Electromyography rotations at a large US academic medical center. Relationships between workplace‐based EMG‐DOT scores (n = 298) and scores on a prerequisite simulated patient exercise, patient experience surveys (n = 199), end‐of‐rotation evaluations (n = 301), and an American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) self‐assessment examination were assessed using Pearson correlations.ResultsAmong 23 trainees, EMG‐DOT scores assigned by physician raters correlated positively with end‐of‐rotation evaluations (r = 0.63, P = .001), but EMG‐DOT scores assigned by technician raters did not (r = 0.10, P = .663). When physician and technician ratings were combined, higher EMG‐DOT scores correlated with better patient experience survey scores (r = 0.42, P = .047), but not with simulated patient or AANEM self‐assessment examination scores.DiscussionEnd‐of‐rotation evaluations can provide valid assessments of trainee performance when completed by individuals with ample opportunities to directly observe trainees. Inclusion of observational assessments by technicians and patients provides a more comprehensive view of trainee performance. Workplace‐ and classroom‐based assessments provide complementary information about trainee performance, reflecting underlying differences in types of skills measured.

AbstractFor many years, Neuromuscular Medicine programs lacked a standardized means of handling fellowship applications and offering positions. Programs interviewed applicants and made offers as early as the first half of Post Graduate Year 3 (PGY3), a suboptimal timeline for applicants who may have had little prior exposure to neuromuscular or electrodiagnostic medicine. In 2021, the American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) developed the Neuromuscular Fellowship Portal to standardize a later timeline and establish a process for fellowship applications and offers. In its first year, the Neuromuscular Fellowship Portal used a unique one‐way match, in which the portal released serial offers to applicants based on rank order lists submitted by programs. Fifty‐two Neuromuscular Medicine programs and seven electromyography (EMG)‐focused Clinical Neurophysiology programs participated. Sixty‐eight positions were filled, a similar number to previous years. A survey of fellowship directors and applicants following this process showed overwhelming support for the standardized timeline and application portal, but all program directors and most applicants favored moving to a traditional match. To maintain the existing application timeline and minimize costs for all parties, the AANEM Neuromuscular Fellowship Portal will host a two‐way match, based on existing commercial match algorithms, in 2022. A match will afford a fair and efficient process for all involved. Both Neuromuscular Medicine and EMG‐focused Clinical Neurophysiology programs will be encouraged to participate. The process undertaken by the AANEM can stand as an example for other neurologic subspecialties who are interested in standardizing their application timeline.

AbstractIntroduction/AimsRecently, our group found an association between diabetes mellitus (DM) and lumbosacral radiculoplexus neuropathy (LRPN) in Olmsted County, Minnesota; we found a higher risk (odds ratio [OR], 7.91) for developing LRPN in diabetic compared with nondiabetic patients. However, the influence of other comorbidities and anthropomorphic variables was not studied.MethodsDemographic and clinical data from 59 LRPN patients and 177 age/sex‐matched controls were extracted using the Rochester LRPN epidemiological study. Differences between groups were compared by chi‐square/Fisher exact test or Wilcoxon rank‐sum test. Uni‐ and multivariate logistic regression analysis were performed.ResultsFactors predictive of LRPN on univariate analysis were DM (OR, 7.91; 95% confidence interval [CI], 4.11‐15.21), dementia (OR, 6.36; 95% CI, 1.13‐35.67), stroke (OR, 3.81; 95% CI, 1.32‐11.01), dyslipidemia (OR, 2.844; 95% CI, 1.53‐5.27), comorbid autoimmune disorders (OR, 2.72; 95% CI, 1.07‐6.93), hypertension (OR, 2.25; 95% CI, 1.2‐4.13), obesity (OR, 2.05; 95% CI, 1.11–3.8), body mass index (BMI) (OR, 1.1; 95% CI, 1.04‐1.15), and weight (OR, 1.02; 95% CI, 1.009‐1.037). On multivariate logistic regression analysis only DM (OR, 8.03; 95% CI, 3.86‐16.7), comorbid autoimmune disorders (OR, 4.58; 95% CI, 1.45‐14.7), stroke (OR, 4.13; 95% CI, 1.2‐14.25), and BMI (OR, 1.07; 95% CI, 1.01‐1.13) were risk factors for LRPN.DiscussionDM is the strongest risk factor for the development of LRPN, followed by comorbid autoimmune disorders, stroke, and higher BMI. Altered metabolism and immune dysfunction seem to be the most influential factors in the development of LRPN.

Abstract Objective To determine whether histopathological, electromyographic and laboratory markers correlate with clinical measures in inclusion body myositis (IBM). Methods We reviewed our electronic medical records to identify patients with IBM according to European Neuromuscular Center (ENMC) 2011 criteria, seen between 2015 and 2020. We only included patients who had a muscle biopsy and needle electromyography (EMG) performed on the same muscle (opposite or same side). We used a detailed grading system [0 (normal) to 4 (severe)] to score histopathological and EMG findings. Clinical severity was assessed by the modified Rankin scale (mRS), muscle strength sum score (SSS), quadriceps strength and severity of dysphagia on swallow evaluation. Serum markers of interest were creatine kinase level and cN-1A antibodies. Results We included 50 IBM patients, with a median age of 69 years; 64% were males. Median disease duration at diagnosis was 51 months. On muscle biopsy, endomysial inflammation mainly correlated with dysphagia, and inversely correlated with mRS. Vacuoles and congophilic inclusions did not correlate with any of the clinical measures. On EMG, the shortness of motor un it potential (MUP) duration correlated with all clinical measures. Myotonic discharges, and not fibrillation potentials, correlated with the severity of inflammation. Serum markers did not have a statistically significant correlation with any of the clinical measures. Conclusions Dysphagia was the main clinical feature of IBM correlating with endomysial inflammation. Otherwise, inclusion body myositis clinical measures had limited correlation with histopathological features in this study. The shortness of MUP duration correlated with all clinical measures.

Purpose: To survey US Clinical Neurophysiology (CNP) fellowship program directors on the nature of CNP and related training programs, current recruitment cycle, and views for a standardized process. Methods: A 23-question electronic survey was sent to all 93 US Accreditation Council for Graduate Medical Education-accredited CNP fellowship program directors from December 2020 to January 2021. Results: The response rate was 60%. There was great variability in the number of CNP positions and CNP tracks offered. The following tracks were identified: 48% EEG dominant, 26% EMG dominant, 22% split equally between EEG and EMG, and 2% and 1% were neurophysiologic intraoperative monitoring and autonomic dominant, respectively. Of the responding institutions, 43% offered a second year of training options to CNP fellows, mainly in conjunction with Epilepsy fellowship, which was pursued by 25% of CNP fellows. Many programs indicated flexibility in their design between different CNP tracks or between CNP and other related training programs based on the available candidates. The median percentage of CNP fellowship positions filled over the last 5 years was 80%, and there was great variation in the recruitment timeline across institutions. Overall, 86% of program directors favored a universal timeline and 71% favored a formal match for CNP. The respondents were split between an independent CNP match (39%) and joining the initiatives of affiliate societies on a standardized process (61%). Conclusions: There is significant heterogeneity in the makeup of the CNP fellowship programs and the recruitment process. The majority of CNP program directors are in favor of standardization of the recruitment process.

AbstractIntroductionMyokymic discharges are classically associated with nerve injury from prior radiation but may occur in other neuromuscular disorders. Using quantitative analysis we aimed to identify the spectrum of conditions in which myokymic discharges are present and determine if there are electrophysiological features that distinguish postradiation from nonradiation causes of myokymia.MethodsWe reviewed the clinical history of all patients examined in our electromyography labs with myokymic discharges recorded from June 2017 to February 2020. Quantitative analysis of each myokymic discharge was performed using a custom MATLAB script, assessing features such as burst frequency, spikes per burst, and burst regularity.ResultsEighty‐eight distinct myokymic discharges (70 patients) were analyzed: 51 postradiation recordings from 35 patients and 37 recordings from 35 nonradiation patients. The diagnostic spectrum of nonradiation cases was diverse, with common causes being median neuropathy (n = 8), cervical (n = 7), and lumbar (n = 5) radiculopathy, and motor neuron disease (n = 5). On quantitative analysis, postradiation myokymia had an increased burst‐to‐silence ratio (median, 0.29; nonradiation, 0.08) and greater peak number (median, 15; nonradiation, 7). Except for one patient with hereditary peripheral nerve hyperexcitability, all patients who had two or more muscles demonstrating myokymic discharges belonged to postradiation group.ConclusionsMyokymic discharges can be seen in diverse neuromuscular conditions; most common in our cohort was chronic median neuropathy. Postradiation myokymia appears to have distinguishing morphological features when quantitatively analyzed compared with nonradiation cases.