Recommendations for assessing appearance concerns related to plexiform and cutaneous neurofibromas in neurofibromatosis 1 clinical trials.

Background/aims: Individuals with neurofibromatosis 1 may experience changes in their appearance due to physical manifestations of the disorders and/or treatment sequelae. Appearance concerns related to these physical changes can lead to psychological distress and poorer quality of life. While many neurofibromatosis 1 clinical trials focus on assessing changes in tumor volume, evaluating patients' perspectives on corresponding changes in symptoms such as physical appearance can be key secondary outcomes.

Clinical characteristics and treatment outcomes in patients with double-seronegative myasthenia gravis.

Background And Purpose: Double-seronegative myasthenia gravis (dSNMG) is defined as myasthenia gravis (MG) without detectable or low affinity antibodies to acetylcholine receptor (AChR) and muscle-specific kinase (MuSK). There are limited data on detailed clinical features and outcomes after treatment in dSNMG patients. The aim was to describe the clinical characteristics and outcomes in dSNMG patients based on MG scales.

Time to achieve a patient acceptable symptom state in myasthenia gravis.

Introduction: The patient acceptable symptom state (PASS) is a reliable way to characterize a patient's satisfaction with their disease state in a "Yes"/"No" dichotomous manner. There is limited data on the time required to reach an acceptable state in Myasthenia Gravis (MG). We aimed to determine the time to reach a first PASS "Yes" response in patients at MG diagnosis and a PASS "No" status, and also to determine the influence of various factors on this time.

Demographic and clinical determinants of the quality of life in adults with inherited and acquired myopathies.

Background And Purpose: Measuring health-related quality of life (QOL) is vital for understanding the disease impact, but the complex relationship between clinical parameters and QOL remains unclear. The objective was to determine the demographic and clinical factors that influence the QOL in adults with inherited and acquired myopathies.

Methods: The study was of cross-sectional design.

Outcomes of COVID-19 Infection and Vaccination Among Individuals With Myasthenia Gravis.

Importance: There are limited data regarding COVID-19 outcomes and vaccine uptake and safety among people with myasthenia gravis (MG).

Objective: To investigate COVID-19-related outcomes and vaccine uptake among a population-based sample of adults with MG.

Design, Setting, And Participants: This population-based, matched cohort study in Ontario, Canada, used administrative health data from January 15, 2020, and August 31, 2021.

Efgartigimod improved health-related quality of life in generalized myasthenia gravis: results from a randomized, double-blind, placebo-controlled, phase 3 study (ADAPT).

There are substantial disease and health-related quality-of-life (HRQoL) burdens for many patients with myasthenia gravis (MG), especially for those whose disease symptoms are not well controlled. HRQoL measures such as the Myasthenia Gravis Quality of Life 15-item revised (MG-QOL15r) and EuroQoL 5-Dimensions 5-Levels (EQ-5D-5L) are vital for evaluating the clinical benefit of therapeutic interventions in patients with MG, as they assess the burden of disease and the effectiveness of treatment, as perceived by patients. The phase 3 ADAPT study (NCT03669588) demonstrated that efgartigimod-a novel neonatal Fc receptor inhibitor-was well tolerated and that acetylcholine receptor antibody-positive (AChR-Ab+) participants who received efgartigimod had statistically significant improvements in MG-specific clinical scale scores.

Understanding the Symptom Burden and Impact of Myasthenia Gravis from the Patient's Perspective: A Qualitative Study.

Introduction: Patients with generalized myasthenia gravis (gMG) experience functional impairment due to MG symptoms. This study aimed to assess, from the patient perspective, the symptoms, impacts, and treatment goals of individuals diagnosed with gMG.

Methods: Semi-structured, in-depth concept-elicitation interviews were conducted with 28 individuals diagnosed with gMG in the United States.

Reliability of Automatic Computer Vision-Based Assessment of Orofacial Kinematics for Telehealth Applications.

Introduction: Telehealth/remote assessment using readily available 2D mobile cameras and deep learning-based analyses is rapidly becoming a viable option for detecting orofacial and speech impairments associated with neurological and neurodegenerative disease during telehealth practice. However, the psychometric properties (e.g.

Development of algorithms to identify individuals with Neurofibromatosis type 1 within administrative data and electronic medical records in Ontario, Canada.

Background: There is limited population-based data on Neurofibromatosis type 1 (NF1) in North America. We aimed to develop and validate algorithms using administrative health data and electronic medical records (EMRs) to identify individuals with NF1 in Ontario, Canada.

Methods: We conducted an electronic free-text search of 15 commonly-used terms related to NF1 in the Electronic Medical Records Primary Care Database.

Study protocol for developing, piloting and disseminating the PRISMA-COSMIN guideline: a new reporting guideline for systematic reviews of outcome measurement instruments.

Background: Systematic reviews of outcome measurement instruments are important tools in the evidence-based selection of these instruments. COSMIN (COnsensus-based Standards for the selection of health Measurement INstruments) has developed a comprehensive and widespread guideline to conduct systematic reviews of outcome measurement instruments, but key information is often missing in published reviews. This hinders the appraisal of the quality of outcome measurement instruments, impacts the decisions of knowledge users regarding their appropriateness, and compromises reproducibility and interpretability of the reviews' findings.

Retrospective study on the safety of COVID-19 vaccination in myasthenia gravis.

Introduction/aim: Given the lack of information on safety of coronavirus disease 2019 (COVID-19) vaccination in myasthenia gravis (MG) patients, we aimed to review our experience after surveying patients, as part of routine clinical practice, to ensure that advice on safety is accurate.

Methods: We performed a retrospective chart review of MG patients from the Prosserman Family Neuromuscular Clinic at the Toronto General Hospital who received two injections of any COVID-19 vaccine from February to August 2021. Demographic data were abstracted from the patient medical records.

An update on the use of immunoglobulins as treatment for myasthenia gravis.

Introduction: Myasthenia gravis (MG) is an antibody mediated disease where pathogenic antibodies interact with the acetylcholine receptor or other proteins at the post-synaptic neuromuscular junction. There is growing evidence that immunoglobulin infusions are beneficial for clinical exacerbations and chronic refractory disease and may be an option for patients unresponsive to conventional immunosuppressive therapies.

Areas Covered: We performed an extensive literature review, looking for evidence on the use of immunoglobulins for the treatment of MG, by conducting a search in MEDLINE (1946 to present), EMBASE (1947 to present) and Clinicaltrials.

Protocol for psychometric evaluation of the Amyotrophic Lateral Sclerosis - Bulbar Dysfunction Index (ALS-BDI): a prospective longitudinal study.

Introduction: Early detection and tracking of bulbar dysfunction in amyotrophic lateral sclerosis (ALS) are critical for directing management of the disease. Current clinical bulbar assessment tools are lacking, while existing physiological instrumental assessments are often inaccessible and cost-prohibitive for clinical application. The goal of our research is to develop and validate a brief and reliable, clinician-administered assessment tool-the ALS-Bulbar Dysfunction Index (ALS-BDI).

Validating Automatic Diadochokinesis Analysis Methods Across Dysarthria Severity and Syllable Task in Amyotrophic Lateral Sclerosis.

Purpose: Oral diadochokinesis (DDK) is a standard dysarthria assessment task. To extract automatic and semi-automatic DDK measurements, numerous DDK analysis algorithms based on acoustic signal processing are available, including amplitude based, spectral based, and hybrid. However, these algorithms have been predominantly validated in individuals with no perceptible to mild dysarthria.

Validation of the Italian version of the Myasthenia Gravis Impairment Index (MGII).

Objective: To validate the Italian version of the Myasthenia Gravis Impairment Index (MGII).

Introduction: MGII is a recent promising measure developed for MG patient evaluation. It includes a clinical severity evaluation and a patient-reported questionnaire.

Clinical profile and impact of comorbidities in patients with very-late-onset myasthenia gravis.

Introduction/aims: The purpose of this study was to evaluate the clinical profile of myasthenia gravis (MG) in older patients and determine the impact of medical comorbidities on their MG status and outcome.

Methods: This was a retrospective chart review of patients with a symptom onset of MG at or after 65 years of age. Correlations were made between demographics, clinical characteristics, the Myasthenia Gravis Foundation of America (MGFA) severity scale scores, and Myasthenia Gravis Impairment Index (MGII) scores with two outcome measures: MGFA Post-Intervention Status (MGFA-PIS) and Simple Single Question (SSQ).

Current Recommendations for Patient-Reported Outcome Measures Assessing Domains of Quality of Life in Neurofibromatosis Clinical Trials.

Objective: To review and recommend patient-reported outcome (PRO) measures assessing multidimensional domains of quality of life (QoL) to use as clinical endpoints in medical and psychosocial trials for children and adults with neurofibromatosis (NF) type 1, NF2, and schwannomatosis.

Methods: The PRO working group of the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration used systematic methods to review, rate, and recommend existing self-report and parent-report PRO measures of generic and disease-specific QoL for NF clinical trials. Recommendations were based on 4 main criteria: patient characteristics, item content, psychometric properties, and feasibility.

Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease.

Objective: To report the association between type 1 Gaucher disease (GD1) and amyotrophic lateral sclerosis (ALS) in 3 unrelated families and to explore whether variants influence the risk of ALS.

Methods: We conducted retrospective chart reviews of patients with GD1 or their family members diagnosed with ALS. To further investigate whether there is an association between ALS and GD, we performed exploratory analyses for the presence of variants in 3 ALS cohorts from Toronto (Canada), Montreal (Canada), and Project MinE (international), totaling 4,653 patients with ALS and 1,832 controls.

Telephone consultation for myasthenia gravis care during the COVID-19 pandemic: Assessment of a novel virtual myasthenia gravis index.

Introduction/aims: The aim of the study was to determine the association between the virtual Myasthenia Gravis Impairment Index (vMGII) with other patient-reported outcomes (PROs) of myasthenia gravis (MG) and its usefulness in telephone consultations with MG patients.

Methods: This was a retrospective case series in which vMGII score along with virtual Single Simple Question (vSSQ), virtual Patient-Acceptable Symptom State PASS (vPASS) response, and patient disease status based on Myathenia Gravis Foundation of America postintervention status were collected during telephone consultation along with the MGII, SSQ, and PASS responses during the preceding in-person clinic visits.

Results: In 214 patients, the mean difference of vMGII between the vPASS "Yes" and "No" groups was -14.

Thymoma pathology and myasthenia gravis outcomes.

Introduction: There is limited evidence regarding the impact of World Health Organization (WHO) subtype of thymoma on post-thymectomy outcome of thymoma-associated myasthenia gravis (TAMG). The objective was to determine if the pathological subtypes of thymoma were associated with post-thymectomy outcomes of myasthenia gravis (MG), in patients with TAMG.

Methods: We performed a retrospective study of consecutive patients with TAMG who attended the neuromuscular clinic between January 2018 and December 2019 with a minimum follow-up of 1 y after thymectomy.

Fracture Risk in Patients with Myasthenia Gravis: A Population-Based Cohort Study.

Background: Prednisone is a common treatment for myasthenia gravis (MG), and osteoporosis is a known potential risk of chronic prednisone therapy.

Objective: Our aim was to evaluate the risk of serious fractures in a population-based cohort of MG patients.

Methods: An inception cohort of patients with MG was identified from administrative health data in Ontario, Canada between April 1, 2002 and December 31, 2015.