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Introduction/aims: Hypogammaglobulinemia is a common yet under-recognized feature of myotonic dystrophy type 1 (DM1). The aims of our study were to determine the frequency of immunoglobulin G (IgG) deficiency in our cohort, to examine the association between immunoglobulin levels and cytosine-thymine-guanine (CTG) repeat length in the DMPK gene, and to assess whether IgG levels are associated with an increased risk of infection in DM1 patients., Methods: We conducted a single-center, retrospective cross-sectional study of 65 adult patients with DM1 who presented to the Neuromuscular Clinic at Concord Repatriation General Hospital, Sydney, Australia, between January 2002 and January 2022. We systematically collected and analyzed clinical, laboratory, and genetic data for all patients with available serum electrophoresis and/or IgG level results., Results: Forty-one percent of DM1 patients had IgG deficiency despite normal lymphocyte counts, IgA, IgM, and albumin levels. There was an association between CTG repeat expansion size and the degree of IgG deficiency (F = 6.3, p = .02). There was no association between IgG deficiency and frequency of infection in this group (p = .428)., Discussion: IgG deficiency is a frequent occurrence in DM1 patients and is associated with CTG repeat expansion size. Whether hypogammaglobulinemia is associated with increased infection risk in DM1 is unclear. A prospective multicenter cohort study is needed to evaluate this., (© 2024 The Author(s). Muscle & Nerve published by Wiley Periodicals LLC.)

Neuromuscular junction (NMJ) disorders represent a heterogenous group of acquired and congenital disorders that present in variable and distinctive ways. The diagnosis is typically reached through a combination of clinical, serological, pharmacological and electrophysiological evaluation. While the diagnosis can be fairly straightforward in some cases, the overlap with other neurological disorders can make diagnosis challenging, particularly in pure ocular presentations and in seronegative patients. The over-reliance on serological tests and electrophysiological evaluation in isolation can lead to misdiagnosis. In this article, we provide an overview of the NMJ disorders, discuss red flags for the key differential diagnoses (mimics) and report the atypical ways in which NMJ disorders may present (chameleons)., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Objective: The aim of the present study was to validate the Communication and Language Assessment questionnaire for persons with Multiple Sclerosis (CLAMS) into the Greek language., Method: 106 Persons with Multiple Sclerosis (PwMS) and 51 healthy controls (HCs) participated in this study. We evaluated patients' cognitive abilities with the Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS). All PwMS completed the CLAMS and three additional questionnaires (Speech Pathology-Specific Questionnaire for persons with Multiple Sclerosis, SMS; Stroke and Aphasia Quality of Life Scale-39, SAQOL-39; the Beck Depression Inventory Fast Screen, BDI-FS), and all HCs filled in the CLAMS., Results: The internal consistency of the CLAMS was excellent (a = 0.933) for the PwMS and a significant difference was found between PwMS and HCs for the total CLAMS score. Statistical analyses showed a significant positive correlation between the CLAMS and the other questionnaires (SMS, BDI, and SAQOL-39) and a statistically significant negative correlation between the CLAMS and the three subtests of the BICAMS (Symbol Digit Modalities Test, Greek Verbal Learning Test-II, and Brief Visuospatial Memory Test-Revised). There was no correlation between the CLAMS and participants' age, disease duration, and disease type., Conclusion: The Greek version of the CLAMS is a valid self-reported questionnaire for the evaluation of language and communication symptoms in PwMS., (© The Author(s) 2024. Published by Oxford University Press.)

Purpose: The aim of the present study was to adapt and validate the Speech Pathology-Specific Questionnaire for Persons with Multiple Sclerosis (SMS) into the Greek language., Method: The study sample consisted of 124 people with multiple sclerosis (PwMS) and 50 healthy controls (HCs). All PwMS underwent cognitive assessment using the Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS). Both PwMS and HCs completed the SMS, the Eating Assessment tool (EAT-10), the Voice Handicap Index (VHI), and the Stroke and Aphasia Quality of Life Scale-39 (SAQOL-39)., Result: Significant difference was found between PwMS and HCs for the EAT-10, SAQOL-39, the total SMS, and the SMS subscales. Discriminant validity analyses revealed a statistically significant difference between PwMS and HCs for the total and subscales SMS. Convergent validity analyses between the total SMS and the SMS subscales, and scores on the BICAMS, EAT-10, SAQOL-39, and VHI in PwMS were significantly correlated, with exception of the SMS Speech/Voice with the Symbol Digit Modalities Test (SDMT) and the Greek Verbal Learning Test-II (GVLT-II). Scores on the EAT-10, SAQOL-39, and VHI in PwMS were also correlated with the total SMS and the SMS subscales in PwMS, HCs, and the total sample. Construct validity analyses revealed that the total SMS and the SMS subscales were significantly correlated with the Expanded Disability Status Scale (EDSS) and years of education, while no associations were found with regards to age, MS subtype (relapsing-remitting MS [RRMS] vs progressive MS [PMS]), disease duration, or sex. The internal consistency of all items was excellent in PwMS and the total sample (Cronbach's alpha was >0.7 after deletion of one item), with the exception of two items, which still fell within the acceptable range (>0.6) for PwMS and the total sample., Conclusion: The Greek version of the SMS is a reliable and valid patient-reported outcome measure to assess speech-language and swallowing pathology related symptoms in PwMS, and can be used for research and clinical purposes.

Purpose: Superficial siderosis, a progressive, debilitating, neurological disease, often presents with bilateral impairment of auditory and vestibular function. We highlight that superficial siderosis is often due to a repairable spinal dural defect of the type that can also cause spontaneous intracranial hypotension., Methods: Retrospective chart review of five patients presenting with moderate to severe, progressive bilateral sensorineural hearing loss as well as vestibular loss. All patients had developed superficial siderosis from spinal dural defects: three after trauma, one after spinal surgery and one from a thoracic discogenic microspur., Results: The diagnosis was made late in all five patients; despite surgical repair in four, hearing and vestibular loss failed to improve., Conclusions: In patients presenting with progressive bilateral sensorineural hearing loss, superficial siderosis should be considered as a possible cause. If these patients also have bilateral vestibular loss, cerebellar impairment and anosmia, then the diagnosis is likely and the inevitable disease progress might be halted by finding and repairing the spinal dural defect., (© 2022. The Author(s).)

Background: There is growing recognition that communication can be affected in multiple sclerosis (MS) and can negatively impact relationships, employment and psychological well-being. Some persons with MS (PwMS) implement strategies to facilitate their communication; however, some do not. Most PwMS who report communication changes do not engage with speech-language pathology (SLP) services. This raises concerns that a large portion of communication changes associated with MS go under-recognized and unmanaged. Little is known about what PwMS want and need to facilitate effective communication., Aim: To explore what PwMS want and need to better manage their communication changes., Methods & Procedures: Three focus groups were conducted online using Zoom, with a total of 12 PwMS. Participants were an opportunistic sample of PwMS within Australia recruited via advertisements distributed to various MS organizations and clinics. Data were transcribed verbatim and analysed using thematic content analysis to provide a qualitative analysis of the data., Outcomes & Results: Two main themes emerged: (1) accessible knowledge and a holistic approach; and (2) partnerships. Specifically, the identified wants and needs of participants included: (1) assessment; (2) information; (3) raising awareness; (4) support groups; (5) a whole-person approach to intervention; (6) geographically and economically accessible and navigable services; (7) effective patient-physician interactions; and (8) a multidisciplinary team-based approach (e.g., SLP, psychology, neuropsychology, occupational therapy)., Conclusions & Implications: This study identified a wide range of unmet wants and needs of PwMS related to communication changes. Participants wanted improved collaborative partnerships with healthcare professionals to better manage their communication changes. For example, healthcare professionals could ask PwMS about potential communication changes, provide education and make appropriate referrals. Education and information provision could focus on communication changes in MS, factors that trigger or exacerbate communication changes, impacts, self-management strategies, and available supports and services. Specific implications for clinical practice and future research are suggested in this paper, including ideas for patient education materials and content, suggestions for communication-specific screening and information that could be shared in patient-physician interactions, the development of guidelines to systematically screen, assess, manage and monitor communication changes in MS, and the design of evidence-based communication interventions for this clinical population. The results from this study can be used to guide the design of supports and services to help PwMS better manage communication changes, with the aim to reduce the negative impacts., What This Paper Adds: What is already known on this subject PwMS can experience communication changes across a range of domains, including speech, voice, fluency, expressive and receptive language, and cognitive-linguistic functions. These changes can have profound and far-reaching negative impacts on educational and vocational outcomes, social participation, relationships, psychological well-being, and quality of life. Most PwMS who report communication changes do not engage with SLP services. There has been little research exploring what PwMS want and need to help manage their communication changes. What this paper adds to the existing knowledge This research is the first study of its kind that sets out specifically to explore what PwMS want and need to better manage their communication changes. This study increases our understanding of, and provides valuable insights into, the specific types of supports and services PwMS desire to access, and the partnerships and kinds of interactions PwMS dream of having with healthcare professionals to manage these changes. This information can facilitate the development of future interventions to manage communication changes in MS. What are the potential or actual clinical implications of this work? PwMS wanted healthcare professionals to ask about potential communication changes, provide education and make appropriate referrals. When providing education and information on communication changes in MS, healthcare professionals should focus on covering symptoms, triggers, impacts, self-management strategies, and available supports and services. There is a timely need to develop guidelines and interventions to manage communication changes in MS to reduce their negative impacts., (© 2022 The Authors. International Journal of Language & Communication Disorders published by John Wiley & Sons Ltd on behalf of Royal College of Speech and Language Therapists.)

Purpose : Communication changes in multiple sclerosis (MS) are under-explored and under-recognised. Persons with MS (PwMS) are experts in their condition and play a valuable role in informing clinicians and researchers of their condition. This study aimed to investigate the perspectives of PwMS on: (1) MS-related communication changes, (2) the impact of these communication changes across key aspects of a person's life, including work/studies, relationships, and general quality of life, and (3) strategies used to facilitate communication in daily interactions. Method : Two-hundred and sixty PwMS were recruited internationally and completed an online questionnaire. Content analysis was used to analyse open-ended questionnaire responses. Result : One-hundred and ninety-seven (75.8%) participants reported communication changes, including language, cognitive, speech, voice, and fluency changes. Participants described a variety of personal and environmental factors that influence communication negatively, such as fatigue, stress, and heat. Communication changes were reported to impact on psychological wellbeing, interpersonal relationships, participation and identity in the workforce and career pathways, and tertiary studies. Around 40% of participants reported using a range of overt and covert strategies to manage communication changes. Only 11.2% ( n  = 22/197) of participants who reported communication changes accessed speech-language pathology (SLP) services. Conclusion : PwMS can experience a wide spectrum of communication changes. These communication changes can have a profound and far-reaching impact on psychological wellbeing and societal participation. Engagement with SLP services is limited compared to the reported prevalence of communication changes. There is a need to raise awareness of the role of SLP in service provision for PwMS to manage communication changes. This paper discusses and provides suggestions for SLP services for PwMS with communication changes. There is a timely need to develop evidence-based interventions to support PwMS manage communication changes and reduce their impact.