Neurology. Clinical practice最新文献

{"title":"Practical Management of Progressive Multifocal Leukoencephalopathy and Immune Reconstitution Inflammatory Syndrome.","authors":"Guillaume Martin-Blondel, Busranur Agac, Irene Cortese","doi":"10.1212/CPJ.0000000000200594","DOIUrl":"10.1212/CPJ.0000000000200594","url":null,"abstract":"<p><strong>Purpose of review: </strong>The aim of this narrative review was to provide treating physicians with practical guidance on the management of progressive multifocal leukoencephalopathy (PML), offering a rational, evidence-informed approach to diagnosis and treatment based on published literature and the authors' collective clinical experience.</p><p><strong>Recent findings: </strong>The management of PML requires precise characterization of disease status at presentation and throughout follow-up. We begin by outlining the clinical scenarios in which PML should be suspected, emphasizing that disease presentation is shaped by the strength and quality of the host's antiviral immune response. We then detail the evaluation of patients at the time of diagnosis and during follow-up, with particular attention to defining whether PML is presenting in its classic form, with inflammatory features, or in the context of immune reconstitution inflammatory syndrome. This assessment should incorporate prognostic markers to evaluate the potential for immune recovery and virologic control. We further summarize the current standard of care and identify clinical contexts in which experimental immunotherapeutic interventions to facilitate restoration of JC virus-specific immune functions may be considered, emphasizing the importance of individualized, risk-benefit-based decision making. Notably, such experimental immunotherapies are likely unnecessary and may even be harmful, once immune reconstitution has already been achieved and virologic control is evident. Finally, we address the management of inflammation in PML, underscoring that not all inflammatory presentations warrant corticosteroid therapy.</p><p><strong>Summary: </strong>The management of PML remains a significant clinical challenge. Standardizing assessment protocols across centers may enhance data quality and comparability and facilitate future collaborative and data-sharing efforts.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"16 2","pages":"e200594"},"PeriodicalIF":3.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12885572/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146156150","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Approaching Serious Illness Conversations in Amyotrophic Lateral Sclerosis Using Telehealth: A Practical Guide.","authors":"Erica Scirocco, Sabrina Paganoni, Kate Brizzi","doi":"10.1212/CPJ.0000000000200600","DOIUrl":"10.1212/CPJ.0000000000200600","url":null,"abstract":"<p><strong>Purpose of review: </strong>Given the lack of consensus on serious illness conversations (SIC) in amyotrophic lateral sclerosis (ALS) by using telehealth, we aim to provide practical strategies in this setting.</p><p><strong>Recent findings: </strong>Over the past 5 years, there has been substantial growth in telehealth, especially after the global COVID-19 pandemic. In ALS, telehealth has become an increasingly used tool for providing clinical care, especially as the disease progresses, when travel becomes challenging and geographic constraints arise. As ALS advances, clinicians often have SIC with individuals living with ALS and their caregivers using telehealth. In the literature, few recommendations are available to improve telehealth communication in the neuropalliative setting.</p><p><strong>Summary: </strong>We present 3 case scenarios showcasing telehealth strategies for SICs, with specific considerations for individuals living with ALS. We provide a strategy, CARE in ALS, to support telehealth communication in individuals with speech impairments. We hope to provide practical guidance for health care clinicians in this specific setting.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"16 2","pages":"e200600"},"PeriodicalIF":3.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12983326/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147468638","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spiritual Assessment of Neurologic Patients: A Practical Approach.","authors":"Indu Subramanian, Christina L Vaughan, John R Peteet, Kirk Hall, W Curt LaFrance","doi":"10.1212/CPJ.0000000000200591","DOIUrl":"10.1212/CPJ.0000000000200591","url":null,"abstract":"<p><strong>Background: </strong>Wellness is a core component of health care and integral to holistic whole-person care, which includes not only the medical and psychological domains but also attention to patients' spirituality. Spirituality plays a key role in meaning-making and coping, particularly for individuals living with neurologic disease (PwND) who often live with profound uncertainty.</p><p><strong>Recent findings: </strong>While spirituality can support PwND through disability, life transitions, and terminal diagnoses, it is often only addressed during crises and deferred to chaplains or palliative care teams unfamiliar with the patient. Research has shown that patients often welcome being asked about their spirituality while clinicians are frequently reluctant to do so.</p><p><strong>Implications for practice: </strong>Given its association with improved patient outcomes and satisfaction, spiritual screening is a vital skill for neurologists to hone as part of comprehensive, person-centered care, although these skills are rarely included in neurology training.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"16 2","pages":"e200591"},"PeriodicalIF":3.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12917604/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147271656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neuropsychiatric Features in Patients With Idiopathic Normal Pressure Hydrocephalus: A Systematic Review and Meta-Analysis.","authors":"Clara Belessiotis-Richards, Emma Brady, Esha Abrol, Veronica Chance, Eileen Joyce, Ahmed Toma, Robert Stewart, Gill Livingston","doi":"10.1212/CPJ.0000000000200586","DOIUrl":"10.1212/CPJ.0000000000200586","url":null,"abstract":"<p><strong>Purpose of review: </strong>Idiopathic normal pressure hydrocephalus (iNPH) is a treatable condition characterized by impaired gait, cognition, and bladder function. Neuropsychiatric symptoms may be important in iNPH but are poorly understood. We report the first systematic review and meta-analysis estimating the prevalence, severity, and treatment responsiveness of neuropsychiatric symptoms and diagnoses in iNPH. We searched PubMed, CINAHL, Embase, Ovid, MEDLINE, Cochrane, and PsycINFO from inception until October 23, 2024, for peer-reviewed, original studies in adults with definite, probable, or possible iNPH that reported neuropsychiatric features using validated tools or clinician diagnosis (PROSPERO CRD42021287293). Case studies and series, as well as studies where diagnostic criteria for iNPH were unclear, were excluded. Study quality assessment and data extraction were independently performed by 2 authors, according to a proforma developed iteratively. Random-effects meta-analysis was used to pool proportions and standardized mean differences. Meta-regression, subgroup analysis, and sensitivity analysis were performed.</p><p><strong>Recent findings: </strong>Twenty-two studies were included, of which 1 was a randomized-controlled trial. For our primary outcome, we found a high prevalence of apathy (69.2%, 95% CI 63.1-74.6, n = 293) and depression (30.1%, 20.1-42.3, n = 7,670) in iNPH. Agitation (22.6%, 11.8-39.1), anxiety (21.9%, 13.2-34.2), disinhibition (21.0%, 11.8-34.7), and psychotic syndromes (8.0%, 3.3-18.3) were relatively less prevalent. Depression scores were higher in patients with iNPH than in controls (Hedge's g 1.31, 0.39-2.23). Treatment of iNPH was associated with a reduction in depression scores (-0.30, -0.62 to 0.01), although the confidence interval contained the null. A total of 12 of 22 studies were rated 'low' quality.</p><p><strong>Summary: </strong>Apathy and depression are highly prevalent in iNPH, maybe more so than in other neurodegenerative conditions. Little is known about other neuropsychiatric features in iNPH. Treatment of iNPH may reduce neuropsychiatric symptoms, particularly depression. However, our study was limited by heterogeneity in populations and assessment tools and a lack of baseline data on neuropsychiatric symptoms before iNPH diagnosis. These findings highlight the urgent need for further research into neuropsychiatric features in iNPH, their mechanisms, and their potential response to treatment.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"16 2","pages":"e200586"},"PeriodicalIF":3.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12879024/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146143044","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Defining Relapse and Disease Activity in Neurosarcoidosis: A Systematic Review and Proposed Framework.","authors":"Greer Waldrop, Susana C Dominguez Penuela, Paula Barreras, Evan Kinder, Kathryn C Fitzgerald, H Benjamin Larman, Samuel J Pleasure, Michael R Wilson, Barney J Stern, Carlos A Pardo, Jeffrey M Gelfand","doi":"10.1212/CPJ.0000000000200581","DOIUrl":"10.1212/CPJ.0000000000200581","url":null,"abstract":"<p><strong>Purpose of review: </strong>There is no consensus or standardized framework to characterize disease activity in CNS neurosarcoidosis, and the existing literature is highly heterogeneous. Here, we aimed to aggregate all longitudinal monitoring metrics in neurosarcoidosis through a systematic review. The review protocol is registered in PROSPERO (ID:533857). Articles were included if they incorporated at least 1 longitudinal monitoring or outcome metric relevant to neurosarcoidosis disease activity. In addition, we aimed to establish an evidence-based clinical framework for characterizing, monitoring, and communicating neurosarcoidosis disease activity, applicable to both clinical care and research.</p><p><strong>Recent findings: </strong>Of 387 articles initially identified, 67 met the inclusion criteria. Most studies focused on metrics within a single domain (clinical, imaging, or laboratory) or analyzed multiple domains independently. Often, the definitions were not formally outlined. Only 11 studies included a multidomain monitoring metric. Our proposed framework integrates 3 critical domains for assessing the neurosarcoidosis disease activity: (1) clinical, (2) imaging, and (3) laboratory and supports a standardized characterization of the disease, especially when domain results are discordant. The overarching goal in defining the elements of each domain was to prioritize specificity in attributing activity to neurosarcoidosis while minimizing the risk of misattribution. Each domain includes criteria for 4 categories of disease status: \"improved,\" \"stable,\" \"worsened,\" or \"resolved.\" The overall disease status of activity or inactivity is then determined by reconciling the independent domains into a summary disease activity assessment, communicated with additional clinical context, including immune treatment status and neuroanatomic localization. Sustained clinical stability of persistent neurologic symptoms or signs in the absence of MRI or CSF activity is considered in the summary assessment to reflect inactive disease with sustained neurologic deficits.</p><p><strong>Summary: </strong>A systematic review highlighted substantial heterogeneity in how CNS neurosarcoidosis disease activity is measured, with many studies lacking formal definitions and often reporting activity only within isolated domains. This proposed framework integrates multiple domains to comprehensively characterize CNS neurosarcoidosis disease activity. With further validation, this approach has the potential to standardize research practices and improve clinical reasoning and communication.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"16 2","pages":"e200581"},"PeriodicalIF":3.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12854681/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146106485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Erratum: Albendazole-Praziquantel Dual Therapy Compared With Albendazole Monotherapy in Neurocysticercosis: A Systematic Review and Meta-Analysis of RCTs.","authors":"Jorge Resende Gondim Jasmineiro Pitanga, Murilo Marmori Cruccioli, Pedro Henrique Teixeira Carneiro, Yasmin Bastos Faller, Letícia Torres da Silva, Marla Resende Gondim Jasmineiro Pitanga, Filipe P Sarmento","doi":"10.1212/CPJ.0000000000200609","DOIUrl":"10.1212/CPJ.0000000000200609","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1212/CPJ.0000000000200567.].</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"16 2","pages":"e200609"},"PeriodicalIF":3.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12903765/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146202128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy and Safety of VMAT2 Inhibitors in the Treatment of Huntington Disease: A Meta-Analysis of Randomized Clinical Trials.","authors":"Elder Machado Leite, Armando Leão Lages, José Fernando Barbosa Moura, Adelson Barroso Junior, João Eduardo Silva Lima, José Arnaldo Cavalcanti Amorim, Gustavo Henrique Brasil Rodrigues","doi":"10.1212/CPJ.0000000000200578","DOIUrl":"10.1212/CPJ.0000000000200578","url":null,"abstract":"<p><strong>Background and objectives: </strong>Vesicular monoamine transporter 2 inhibitors (VMAT2is) have demonstrated effectiveness in attenuating motor symptoms of Huntington disease (HD). However, evidence regarding their long-term safety and overall efficacy in this population remains limited. The aim of this study was to investigate the efficacy and safety of VMAT2is in the treatment of HD.</p><p><strong>Methods: </strong>We performed a meta-analysis of placebo-controlled, randomized controlled trials (RCTs) of VMAT2is in patients with HD. PubMed, Embase, and Cochrane databases were searched for trials up to February 8, 2025. Data were extracted from published reports, and quality assessment was performed per Cochrane recommendations. Binary end points were compared using odds ratios (ORs) while continuous end points were compared using mean difference (MD) and standardized MD (SMD), with 95% CIs for all measures. The analysis end points included changes in the Unified Huntington's Disease Rating Scale-Total Maximal Chorea (UHDRS-TMC), improvements in the Clinical Global Impression of Change (CGI-C), incidence of adverse effects, and alterations in depression scale scores.</p><p><strong>Results: </strong>Of 336 database results, 3 RCTs and 302 patients were included; 163 (53.97%) received VMAT2is. The UHDRS-TMC (MD -2.98; 95% CI [-4.21 to -1.75]; <i>p</i> = 0.009; <i>I</i> ² = 0%) and CGI-C (OR 5.36; CI 95% [2.94-9.76]; <i>p</i> = 0.007; <i>I</i> ² = 0%) scores were significantly improved in the intervention group. In addition, the therapy did not influence the adverse effects (OR 1.89; CI 95% [0.47-7.70]; <i>p</i> = 0.19 <i>I</i> ² = 28%) and depression scale scores (SMD -0.40; 95% CI [-1.20 to 0.41]; <i>p</i> = 0.17; <i>I</i> ² = 59%).</p><p><strong>Discussion: </strong>In patients with HD, treatment with VMAT2is improved chorea (UHDRS-TMC and CGI-C), with no significant changes in adverse effects or depressive symptoms. These findings indicate that VMAT2is may be a promising and safe treatment option for the disease.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"16 2","pages":"e200578"},"PeriodicalIF":3.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12802972/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145990178","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expert Opinion on Age-Related Sex Hormone Changes and Hypogonadism in People With Multiple Sclerosis: A Delphi Consensus Program.","authors":"Riley Bove, Manuela Simoni, Camil Castelo-Branco, Jorge Correale, Kerstin Hellwig, Maria K Houtchens, Melinda Magyari, Gabriele Merki-Feld, Scott Montgomery, Rossella E Nappi, Wen Shen, Egon Stenager, Heidi Thompson, Zeliha Tulek, Kurt Marhardt, Jan A Hillert","doi":"10.1212/CPJ.0000000000200588","DOIUrl":"10.1212/CPJ.0000000000200588","url":null,"abstract":"<p><strong>Purpose of review: </strong>As the life expectancy of people with multiple sclerosis (PwMS) increases, the importance of recognizing and addressing specific needs and challenges faced by those undergoing age-related sex hormone changes and hypogonadism is becoming increasingly evident. We present expert-led, practical recommendations from a consensus program that address gaps in age-related sex hormone changes and hypogonadism in PwMS not sufficiently addressed in current literature and guidelines. A multidisciplinary steering committee (SC) of 15 international experts identified 18 key clinical questions across 6 themes: climacteric symptoms in women with MS; impact of MS on the climacteric stage; impact of menopause on MS disease activity and progression; treatment and management of climacteric symptoms in women with MS; late-onset hypogonadism (LOH) in men with MS; and patient-centered care. After thorough review of the evidence from a systematic literature review, the SC formulated 18 clinical recommendations to address the questions. These recommendations were voted on by the SC and an extended faculty of 23 health care professionals from 16 countries, including 2 nurses and 1 patient association representative.</p><p><strong>Recent findings: </strong>Consensus was reached when ≥75% of respondents expressed agreement, with a score of 7-9 on a 9-point scale. After a single voting round, all 18 recommendations reached consensus (14 reaching consensus at 90%-100% and 4 at 80%-90%). The clinical recommendations addressed the following: the potential overlap and exacerbation of MS symptoms during the climacteric stage; the need for preventive care and screening during the menopausal transition; the potential for, and a paucity of data on, differential efficacy and tolerability of MS medications in menopausal/postmenopausal women; the complex causal interplay between hormonal and/or immunologic changes and natural aging in PwMS switching to a more progressive phase of disease; consideration of behavioral/lifestyle interventions alongside pharmacologic treatments; effects of hormonal treatments on MS symptoms; and management of LOH in men with MS.</p><p><strong>Summary: </strong>These recommendations were based on a robust modified Delphi consensus approach and present a valuable framework for improved patient care. These results emphasize the need to address critical gaps in our understanding and management of PwMS undergoing age-related sex hormone changes and hypogonadism.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"16 2","pages":"e200588"},"PeriodicalIF":3.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12947839/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147326725","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Caplacizumab as an Emerging Treatment for Patients With Thrombotic Thrombocytopenic Purpura Presenting With Acute Ischemic Stroke.","authors":"Konstantinos Melanis, Aikaterini Theodorou, Lina Palaiodimou, Eleni Bakola, Maria Chondrogianni, Georgios Tsikalakis, Niki Nana, Maria Sora, Alexandros-Stavros Triantafyllou, Vasiliki Pappa, Sotirios G Papageorgiou, Panagiotis Tsirigotis, Eleni Gavriilaki, Georgios Tsivgoulis","doi":"10.1212/CPJ.0000000000200580","DOIUrl":"10.1212/CPJ.0000000000200580","url":null,"abstract":"<p><strong>Objectives: </strong>Thrombotic thrombocytopenic purpura (TTP) is rare, life-threatening autoimmune disorder characterized by microvascular thrombosis, severe thrombocytopenia, and hemolytic anemia. It can lead to organ ischemia and increase the risk of thromboembolic events, including acute ischemic stroke (AIS). Caplacizumab, an essential adjunct in TTP management, rapidly inhibits platelet aggregation and prevents disease progression.</p><p><strong>Methods: </strong>We present 3 cases of TTP diagnosed in patients with AIS. Treatment included plasma exchange (PLEX), corticosteroids, and caplacizumab.</p><p><strong>Results: </strong>All 3 patients exhibited acute neurologic deficits, with brain MRI confirming AIS. Laboratory tests revealed thrombocytopenia, hemolytic anemia, and ADAMTS-13 activity <1%, confirming TTP. Two patients initially treated only with PLEX and corticosteroids experienced thrombocytopenia exacerbation, requiring caplacizumab for stabilization. The third patient, treated with caplacizumab from stroke onset, maintained stable platelet counts without exacerbation. No adverse events or deaths occurred, emphasizing caplacizumab's role in sustained hematologic recovery.</p><p><strong>Discussion: </strong>This case series underscores caplacizumab's potential role in stabilizing platelet counts, reducing exacerbation rates, and improving clinical outcomes in TTP-associated AIS. Although all patients experienced favorable neurologic outcomes, a faster recovery cannot be directly attributed to caplacizumab given the multimodal treatment approach. These findings are suggestive of its early use as first-line adjunct, potentially optimizing treatment strategies and improving prognosis.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"16 2","pages":"e200580"},"PeriodicalIF":3.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12807488/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145998627","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessing the Relationship of Quality of Life With Functional Status in a Large Cohort of Adult Patients With Neuromuscular Disorders.","authors":"Karen S W Wong, Anando Sen, Jassi Michell-Sodhi, Dionne Moat, Michelle McCallum, Mark Richardson, Elizabeth Harris, Anna G Mayhew, Michela Guglieri, Emma Grover, Jordi Diaz-Manera, Emma Robinson, Maha Elseed, Joseph Mason, Chloe Geagan, Meredith K James, Volker Straub, Chiara Marini-Bettolo, Robert Muni-Lofra","doi":"10.1212/CPJ.0000000000200590","DOIUrl":"10.1212/CPJ.0000000000200590","url":null,"abstract":"<p><strong>Background and objectives: </strong>Health-related quality of life (HR-QoL) is compromised in patients with neuromuscular disorders (NMDs). Disease severity alone does not predict HR-QoL; there are other known predictors including physical, psychological, and social factors. This study aims to provide insight into how mobility, age, and diagnosis may affect HR-QoL in adults with NMD.</p><p><strong>Methods: </strong>The QoL in Genetic Neuromuscular Disease Questionnaire (QoL-gNMD) was completed by adult patients with NMDs before attending a clinical visit at the John Walton Muscular Dystrophy Research Centre in Newcastle upon Tyne, UK. The Summary of Function Scale was administered during the clinical visit to characterize mobility status.</p><p><strong>Results: </strong>A total of 580 responses were included in this cross-sectional study. Overall perceived health and HR-QoL were reported poorest by ambulant patients who walked using aids. Items from the QoL-gNMD that were affected the most by NMDs were future planning and the need to rely more on others. A nonlinear trend where patients with \"midlevel\" mobility (walked with aids or manual wheelchair users) reported the poorest HR-QoL were observed in all 3 HR-QoL domains: Impact of Physical Symptoms (IPSs), Self-Perception (SP), and Activities and Social Participation (ASP). This nonlinear trend between HR-QoL and mobility was observed for younger patients but became more linear in older age groups. In our cohort, patients with \"midlevel\" mobility were the oldest, and those with the lowest levels of mobility (i.e., powered wheelchair users) were the youngest. Interaction between age and mobility was significant and both affected HR-QoL. There was marked variability in HR-QoL between diagnoses. Diagnosis was a significant factor for IPS (<i>p</i> < 0.01) and SP (<i>p</i> = 0.04) but not for ASP (<i>p</i> = 0.17).</p><p><strong>Discussion: </strong>Age and mobility status affect HR-QoL. Individuals with limited ambulation reported the poorest HR-QoL, which was partially restored in powered wheelchair users, to levels comparable with more ambulant patients. However, the positive effect of wheelchair use became less substantial as patients get older. There was also marked variability in HR-QoL between diagnoses that was unrelated to physical disability. These findings provide evidence to guide care management discussions and highlight the importance of timely introduction of powered mobility.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":"16 2","pages":"e200590"},"PeriodicalIF":3.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12908905/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146213695","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}