Amyotrophic lateral sclerosis & frontotemporal degeneration最新文献

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ALS patients and PAD: description and comparison of patients from a neuromuscular clinic in Canada. ALS患者和PAD:加拿大一家神经肌肉诊所患者的描述和比较。
IF 2.8
Amyotrophic lateral sclerosis & frontotemporal degeneration Pub Date : 2025-08-02 DOI: 10.1080/21678421.2025.2539894
Pierre Trudel, Marie-Hélène Quesnel-Olivo, Mathieu Blais, Usha Ramanathan, Nicolas Dupré
{"title":"ALS patients and PAD: description and comparison of patients from a neuromuscular clinic in Canada.","authors":"Pierre Trudel, Marie-Hélène Quesnel-Olivo, Mathieu Blais, Usha Ramanathan, Nicolas Dupré","doi":"10.1080/21678421.2025.2539894","DOIUrl":"https://doi.org/10.1080/21678421.2025.2539894","url":null,"abstract":"<p><strong>Objectives: </strong>In Canada, patients with ALS (PALS) who meet specific criteria can request Medical Assistance in Dying (MAiD), also known as Physician-Assisted Death (PAD). However, little is known about the characteristics of those patients. This study describes PALS who died of MAiD and compares them with patients who died from natural disease complications.</p><p><strong>Methods: </strong>A retrospective study of 209 consecutive PALS' electronic medical records was performed. Patients selected had follow-up at the CHU de Québec-Université Laval and died between January 2014 and April 2023. Sociodemographic and disease evolution data were collected. Fisher's exact test and Kolmogorov-Smirnov tests were used.</p><p><strong>Results: </strong>The analysis included 174 patients. MAiD PALS (<i>N</i> = 64) were mainly males (54.7%), of median age 67 years, in a relationship (68.7%), and parents of adult children (71.9%). Both cohorts had similar past medical histories of depressive disorders (15%, <i>p</i> > 0.999). MAiD PALS elected to use percutaneous endoscopic gastrostomy (PEG) feeding in 18.7% of cases compared to 28.2% of PALS who died of complications of ALS (<i>p</i> = 0.203). Palliative care teams were significantly more likely to be involved with PALS elected to request MAiD (86.6%, <i>p</i> = 0.023).</p><p><strong>Discussion: </strong>PALS who request MAiD share similar demographic and clinical characteristics with those who died from natural disease progression in our cohort. Trends toward differences were observed, namely, in the rate of disease progression, with PALS who requested MAiD more likely to be fast progressors than their counterparts, and in PEG feeding use with ALS MAiD patients less likely to request it. Palliative care involvement was more prevalent with MAiD PALS.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"1-7"},"PeriodicalIF":2.8,"publicationDate":"2025-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144769424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Persistent high levels of perceived fatigue are not associated with hypermetabolism in patients with amyotrophic lateral sclerosis. 肌萎缩性脊髓侧索硬化症患者持续的高度疲劳感与代谢亢进无关。
Amyotrophic lateral sclerosis & frontotemporal degeneration Pub Date : 2025-08-01 Epub Date: 2025-03-01 DOI: 10.1080/21678421.2025.2471429
Lauren E Buckett, Cory J Holdom, Stephanie L Howe, Pamela A McCombe, Robert D Henderson, Ammar Al-Chalabi, Frederik J Steyn, Shyuan T Ngo
{"title":"Persistent high levels of perceived fatigue are not associated with hypermetabolism in patients with amyotrophic lateral sclerosis.","authors":"Lauren E Buckett, Cory J Holdom, Stephanie L Howe, Pamela A McCombe, Robert D Henderson, Ammar Al-Chalabi, Frederik J Steyn, Shyuan T Ngo","doi":"10.1080/21678421.2025.2471429","DOIUrl":"10.1080/21678421.2025.2471429","url":null,"abstract":"<p><p><i>Objective</i>: Fatigue is a common symptom in amyotrophic lateral sclerosis (ALS). Little is known about factors that contribute to fatigue, and whether levels of fatigue change throughout disease course. We aimed to determine associations between self-reported perceived fatigue and metabolic and clinical features of ALS, and perceived fatigue over the course of disease. <i>Methods</i>: This prospective study was conducted between July 2017 and March 2024. Baseline measures of self-reported perceived fatigue, metabolic rate, and clinical measures of disease were assessed in 117 participants with clinically definite or probable ALS. For comparison, fatigue and metabolic rate were collected from 107 control participants. Perceived fatigue was determined using the Fatigue Severity Scale (FSS). Metabolic rate was assessed using indirect calorimetry. Functional capacity and clinical progression were assessed using the ALS Functional Rating Scale-Revised (ALSFRS-R). <i>Results</i>: Baseline levels of perceived fatigue were greater in people living with ALS (plwALS) when compared to controls (5.44 vs. 2.55; <i>p</i> < 0.01). Perceived fatigue was higher in plwALS with lower ALSFRS-R scores and was not associated with measures of metabolism. For most plwALS, perceived fatigue remained high as functional capacity worsened. <i>Conclusion</i>: Our findings confirm higher prevalence of perceived fatigue in plwALS, with persistently high FSS scores reported by most patients during follow-up. High levels of fatigue were not associated with hypermetabolism, suggesting that metabolic rate is unlikely to be a primary contributor. Results highlight a need for further research to identify factors that contribute to fatigue in ALS, and options for improved fatigue management.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"485-494"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143531090","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The phenotyping dilemma in VRK1-related motor neuron disease: a Turkish family with young-onset amyotrophic lateral sclerosis caused by a novel mutation. VRK1 相关运动神经元疾病的表型困境:一个由新型突变引起的年轻发病型肌萎缩侧索硬化症土耳其家族。
Amyotrophic lateral sclerosis & frontotemporal degeneration Pub Date : 2025-08-01 Epub Date: 2025-03-14 DOI: 10.1080/21678421.2025.2477732
Metin Mercan, Serhat Seyhan, Vildan Yayla
{"title":"The phenotyping dilemma in VRK1-related motor neuron disease: a Turkish family with young-onset amyotrophic lateral sclerosis caused by a novel mutation.","authors":"Metin Mercan, Serhat Seyhan, Vildan Yayla","doi":"10.1080/21678421.2025.2477732","DOIUrl":"10.1080/21678421.2025.2477732","url":null,"abstract":"<p><p><i>Objective</i>: Vaccinia-related kinase 1 (VRK1)-related disease is an extremely rare autosomal recessive disorder primarily affecting the peripheral and/or central nervous system. In this report, we describe the genetic and clinical features of two siblings from a Turkish family presenting with an amyotrophic lateral sclerosis (ALS) phenotype due to a novel homozygous VRK1 mutation, and discuss the broad phenotypic spectrum associated with pathogenic variants in this gene. <i>Methods</i>: We analyzed the demographic data, clinical histories, neurological examinations, laboratory findings, and genetic results of 53 patients, including our cases, derived from 27 different reports. <i>Results</i>: Whole-exome sequencing identified a novel homozygous missense mutation, c.700A > G (p.Asn234Asp), in the VRK1 gene in two affected siblings. The characteristic features of the ALS phenotype included a recessive inheritance pattern, motor deficits with onset in the lower limbs, pyramidal tract signs, and a muscle magnetic resonance imaging (MRI) pattern demonstrating preferential involvement of the posterior compartments of the leg and thigh. The most common phenotypes associated with VRK1 mutations were ALS (18/53, 34%) and distal hereditary motor neuropathy (dHMN) (14/53, 26.4%), followed by pontocerebellar hypoplasia type 1 (7/53, 13.2%), hereditary motor and sensory neuropathy (5/53, 9.4%), autosomal recessive primary microcephaly with brain malformations (4/53, 7.5%), and spastic paraplegia (2/53, 3.8%). The ALS phenotype exhibited a significantly earlier mean age of onset compared to the dHMN phenotype (<i>p</i> = 0.015; 15.3 ± 11.5 and 27 ± 15.5 years, respectively). <i>Conclusion</i>: Our findings highlight the importance of investigating VRK1 mutations in patients with young-onset familial ALS. Furthermore, this report provides a systematic classification of the phenotype definitions associated with VRK1 mutations.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"573-590"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143631094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
SOD1-ALS mimicking an inflammatory neuropathy: a case report. SOD1-ALS模拟炎性神经病变1例报告。
Amyotrophic lateral sclerosis & frontotemporal degeneration Pub Date : 2025-08-01 Epub Date: 2025-04-12 DOI: 10.1080/21678421.2025.2488296
Hanna Sophie Lapp, René Günther
{"title":"SOD1-ALS mimicking an inflammatory neuropathy: a case report.","authors":"Hanna Sophie Lapp, René Günther","doi":"10.1080/21678421.2025.2488296","DOIUrl":"10.1080/21678421.2025.2488296","url":null,"abstract":"<p><p>We present the case of a 36-year-old patient with a rapidly progressing SOD1-ALS, who was initially diagnosed as inflammatory acute motor axonal neuropathy due to contrast-enhancement of the lumbar spinal cord and a pure secondary motor neuron phenotype. Since the initiation of tofersen, disease progression and neurofilament levels impressively declined.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"591-594"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143999121","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Motor neuron diseases are not exclusively motor; the SSR paradigm. 运动神经元疾病并不完全是运动疾病;SSR范例。
Amyotrophic lateral sclerosis & frontotemporal degeneration Pub Date : 2025-08-01 Epub Date: 2025-01-29 DOI: 10.1080/21678421.2025.2458694
Marianna Papadopoulou, Maria-Ioanna Stefanou, Stella Fanouraki, Christos Moschovos, Eleni Bakola, Stavroula Salakou, Vasiliki Zouvelou, George K Papadimas, Georgios Tsivgoulis
{"title":"Motor neuron diseases are not exclusively motor; the SSR paradigm.","authors":"Marianna Papadopoulou, Maria-Ioanna Stefanou, Stella Fanouraki, Christos Moschovos, Eleni Bakola, Stavroula Salakou, Vasiliki Zouvelou, George K Papadimas, Georgios Tsivgoulis","doi":"10.1080/21678421.2025.2458694","DOIUrl":"10.1080/21678421.2025.2458694","url":null,"abstract":"<p><p>Motor Neuron Diseases (MNDs), familial and sporadic, are progressive neurodegenerative disorders that, for an extended period in the past, were considered purely motor disorders. During the course of the disease, however, some patients exhibit concomitant non-motor signs; thus, MNDs are currently perceived as multisystem disorders. Assessment of non-motor symptoms is usually performed clinically, although laboratory tests can also be routinely used to objectively evaluate these symptoms. Sympathetic Skin Response (SSR) is an example of a neurophysiological test that has been used in cases of Amyotrophic Lateral Sclerosis, Spinal Muscular Atrophy, and Monomelic Atrophy, mostly to assess Autonomic Nervous System (ANS) disorders. Dysautonomia affects quality of life and life expectancy, as it is involved in cardiovascular events and incidents of sudden death. SSR abnormalities are present even in subclinical involvement of the ANS in MNDs. In this review, we present published research examining SSR findings in various MNDs, and discuss the correlation of SSR findings with clinical symptoms and disease severity, as well as the potential sources of abnormal findings. The aim of this study is to raise clinician awareness of autonomic dysfunction in MNDs and present the benefits of SSR examination in patient care.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"399-408"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143061604","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Risk prediction for ALS using semi-competing risk models with applications to the ALS Natural History Consortium dataset. 利用半竞争风险模型预测ALS的风险,并应用于ALS自然历史联盟数据集。
Amyotrophic lateral sclerosis & frontotemporal degeneration Pub Date : 2025-08-01 Epub Date: 2025-05-14 DOI: 10.1080/21678421.2025.2500359
Andres Arguedas, David Schneck, Erjia Cui, Annette Xenopoulos-Oddsson, Ximena Arcila-Londono, Christian Lunetta, James Wymer, Nicholas Olney, Kelly Gwathmey, Senda Ajroud-Driss, Ghazala Hayat, Terry Heiman-Patterson, Federica Cerri, Christina Fournier, Jonathan Glass, Alex Sherman, David Walk, Mark Fiecas
{"title":"Risk prediction for ALS using semi-competing risk models with applications to the ALS Natural History Consortium dataset.","authors":"Andres Arguedas, David Schneck, Erjia Cui, Annette Xenopoulos-Oddsson, Ximena Arcila-Londono, Christian Lunetta, James Wymer, Nicholas Olney, Kelly Gwathmey, Senda Ajroud-Driss, Ghazala Hayat, Terry Heiman-Patterson, Federica Cerri, Christina Fournier, Jonathan Glass, Alex Sherman, David Walk, Mark Fiecas","doi":"10.1080/21678421.2025.2500359","DOIUrl":"10.1080/21678421.2025.2500359","url":null,"abstract":"<p><p><i>Background and objectives</i>: Important landmarks in progression of amyotrophic lateral sclerosis (ALS) can occur prior to death. Predictive models for the risk of these events can assist in clinical trial design and personal planning. We propose a predictive model, using a semi-competing risks modeling approach, for five important disease progression landmarks in ALS. <i>Methods</i>: Data on 1508 participants from the ALS Natural History Consortium (ALS NHC) were used, including baseline characteristics and the ALS Functional Rating Scale-Revised (ALSFRS-R) score collected at clinic visits. A semi-competing risks modeling approach was used to study the time to disease progression landmarks, accounting for the possibility of death. Specifically, time to gastrostomy, use of noninvasive ventilation (NIV), continuous use of NIV, loss of speech, and loss of ambulation were chosen and modeled individually. To measure the predictive capabilities of the model, the integrated Brier score was computed for each model using cross-validation for the NHC data. Data from Emory University were used for external validation of the models. <i>Results</i>: We present model results using gastrostomy as the intermediate outcome. Similar trends in disease progression groups were found across all model pathways. Diagnostic delay, age, and site of onset were the most important covariates. Predictive metrics in both internal and external validation are presented across all models and for different pathways. <i>Conclusion</i>: Semi-competing risks modeling is a flexible approach to studying disease progression. The models have good predictive capabilities across different outcomes and pathways. These are replicated in the external validation dataset.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"550-557"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144082485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association of UNC13A with increased amyotrophic lateral sclerosis risk, bulbar onset, and lower motor neuron involvement in a Norwegian ALS cohort. 在挪威ALS队列中,UNC13A与肌萎缩性侧索硬化症风险增加、球发病和低运动神经元受损伤的关联
Amyotrophic lateral sclerosis & frontotemporal degeneration Pub Date : 2025-08-01 Epub Date: 2024-12-30 DOI: 10.1080/21678421.2024.2447922
Camilla Novy, Ole-Bjørn Tysnes, Øyvind L Busk, Keson Jaioun, Trygve Holmøy, Øystein L Holla, Helle Høyer
{"title":"Association of <i>UNC13A</i> with increased amyotrophic lateral sclerosis risk, bulbar onset, and lower motor neuron involvement in a Norwegian ALS cohort.","authors":"Camilla Novy, Ole-Bjørn Tysnes, Øyvind L Busk, Keson Jaioun, Trygve Holmøy, Øystein L Holla, Helle Høyer","doi":"10.1080/21678421.2024.2447922","DOIUrl":"10.1080/21678421.2024.2447922","url":null,"abstract":"<p><p><i>Objective</i>: Amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disease characterized by the loss of motor neurons, has limited treatment options available. Treatments targeting specific ALS genes, including <i>UNC13A</i>, have attracted considerable attention. The <i>UNC13A</i> rs12608932 variant has been associated with an increased risk of ALS, shorter survival, and more frequent bulbar onset. <i>Methods</i>: In this study, we investigated the allele frequency of rs12608932 among 500 Norwegian ALS patients, divided into three groups: patients with a genetic cause, patients without a genetic cause, and the entire ALS population. The three groups were compared to two independent control groups. The patients carrying <i>UNC13A</i> genotypes AA, AC, and CC were further clinically characterized and compared using additive, recessive, and dominant models. <i>Results</i>: The frequency of the rs12608932 C allele was higher in the patients with ALS (0.438) than in the controls (0.365; <i>p</i> < 0.001). Among ALS patients without a known genetic cause, individuals with the CC genotype exhibited higher frequencies of bulbar onset (<i>p</i> = 0.015) and prominent lower motor neuron involvement (<i>p</i> = 0.007) than those with the AA and AC genotypes. <i>Conclusions</i>: The CC genotype of rs12608932 is associated with an increased risk of ALS. Additionally, it acts as a modifier of the ALS phenotype, increasing the risk of bulbar onset and dominant lower motor neuron involvement, specifically in patients without a genetic cause in known ALS genes.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"566-572"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143712330","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Tracheostomy ventilation in ALS: healthcare practitioner perspectives on quality of life and implications for decision-making. 渐冻症患者气管造口通气:医疗从业者对生活质量和决策意义的看法。
Amyotrophic lateral sclerosis & frontotemporal degeneration Pub Date : 2025-08-01 Epub Date: 2025-04-22 DOI: 10.1080/21678421.2025.2495014
Nicola Turner, Jonathan Palmer, Christina Faull, Scott Davidson, Martin R Turner, Eleanor Wilson
{"title":"Tracheostomy ventilation in ALS: healthcare practitioner perspectives on quality of life and implications for decision-making.","authors":"Nicola Turner, Jonathan Palmer, Christina Faull, Scott Davidson, Martin R Turner, Eleanor Wilson","doi":"10.1080/21678421.2025.2495014","DOIUrl":"10.1080/21678421.2025.2495014","url":null,"abstract":"<p><p><i>Objectives:</i> This qualitative study aimed to increase understanding of how healthcare practitioners (HCPs) perceive quality of life for people with ALS who use tracheostomy ventilation (TV) and the extent to which such views inform discussions regarding future treatment and care. <i>Methods:</i> A thematic analysis was applied to data derived from online semi-structured interviews with a professionally diverse group of 24 HCPs with experience of supporting people with ALS to use TV. <i>Results:</i> Four main themes relating to TV use emerged: i) <i>Positive benefits</i>; ii) <i>Risks and challenges</i>; iii) <i>Factors influencing HCP perspectives</i>; iv) <i>Concepts informing HCP discussions.</i> HCPs acknowledged that TV has the potential to extend life but were concerned with prolonging a serious decline in physical and cognitive functioning. HCPs tried to identify the 'tipping point' between quantity and quality of life for the individual and their family, taking into account the likelihood of a higher burden of care. HCPs drew on prior experience to assess anticipated quality of life, yet most HCPs in the UK have limited experience of TV for this group. HCPs also drew on principles of person-centered care, patient autonomy and value for money to guide their approach to discussing TV. <i>Conclusions:</i> HCP experience of positive outcomes of TV can foster a more proactive approach to initiating conversations about its potential use. Sharing best practice and improving guidance for HCPs may support early and on-going future care planning and enable people with ALS to make choices which are informed and in their best interests.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"444-451"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144045448","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Exploring the needs and preferences of people with amyotrophic lateral sclerosis (ALS) when making genomic testing decisions: an interview study. 探讨肌萎缩侧索硬化症(ALS)患者在做出基因组检测决策时的需求和偏好:一项访谈研究。
Amyotrophic lateral sclerosis & frontotemporal degeneration Pub Date : 2025-08-01 Epub Date: 2025-02-27 DOI: 10.1080/21678421.2025.2469727
Jade Howard, Hilary L Bekker, Christopher J McDermott, Alisdair McNeill
{"title":"Exploring the needs and preferences of people with amyotrophic lateral sclerosis (ALS) when making genomic testing decisions: an interview study.","authors":"Jade Howard, Hilary L Bekker, Christopher J McDermott, Alisdair McNeill","doi":"10.1080/21678421.2025.2469727","DOIUrl":"10.1080/21678421.2025.2469727","url":null,"abstract":"<p><p><i>Objective:</i> Whole Genome Sequencing (WGS) for amyotrophic lateral sclerosis (ALS) (also known as motor neuron disease, MND) raises multiple considerations and has a range of implications for individuals and their family. However, it is unclear what needs people with ALS have when making genomic testing decisions. This study explores the experiences, needs and preferences of these individuals when considering WGS and going through the process. <i>Methods:</i> A semi-structured interview study was carried out with 14 people with ALS from across the UK who had, or were considering, WGS. Participants were recruited from a local ALS care center and MND Association/MND Scotland channels. Data were analyzed using framework analysis. <i>Results:</i> Findings indicate variation in (a) how WGS and access to pretest genetic counseling is provided, (b) the perceived adequacy of information to support decision-making and prepare people with ALS for their test result and its consequences, and (c) preferences for making decisions with family and health professionals that best meets their clinical and life needs along the care pathway. <i>Conclusions:</i> There is an urgent need for people with ALS to have relevant, accurate and accessible information that supports proactively their decision-making around WGS, particularly in the context of genetically-targeted treatments and clinical trials. These findings will contribute to the development of a shared decision-making intervention supporting people with ALS to make genomic testing decisions with their family and neurology services.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"436-443"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143517513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cross-cultural adaptation and psychometric evaluation of a Turkish version of the Amyotrophic Lateral Sclerosis-Specific Quality of Life-Short Form. 土耳其版肌萎缩性侧索硬化症特异性短生命质量的跨文化适应和心理测量评估。
Amyotrophic lateral sclerosis & frontotemporal degeneration Pub Date : 2025-08-01 Epub Date: 2025-05-26 DOI: 10.1080/21678421.2025.2507177
Ersin Uskun, Nafiye Turkmenel, Suleyman Kutluhan
{"title":"Cross-cultural adaptation and psychometric evaluation of a Turkish version of the Amyotrophic Lateral Sclerosis-Specific Quality of Life-Short Form.","authors":"Ersin Uskun, Nafiye Turkmenel, Suleyman Kutluhan","doi":"10.1080/21678421.2025.2507177","DOIUrl":"10.1080/21678421.2025.2507177","url":null,"abstract":"<p><p><i>Objective:</i> This study aimed to evaluate the validity and reliability of the Turkish version of the Amyotrophic Lateral Sclerosis Specific Quality of Life Instrument Short Form (ALSSQOL-SF), a quality-of-life scale originally developed by Simons et al., for Turkish Amyotrophic Lateral Sclerosis (ALS) patients. <i>Methods:</i> Using a rigorous six-step translation process, the scale was adapted without altering any items to maintain linguistic and cultural equivalence. The study included 100 patients diagnosed with ALS, aged 18 years and older, and native Turkish speakers. <i>Results:</i> Psychometric evaluations revealed strong content validity (CVI: 100%) and high internal consistency (Cronbach's alpha: 0.86 for the overall scale, 0.74-0.95 for subscales). Item-total correlation coefficients, except for three items, exceeded 0.20, and removing these items did not improve the scale's reliability, preserving the scale's integrity. Construct validity was supported by significant correlations with the Short Form 12 Health Survey Questionnaire (SF-12) and ALS Functional Rating Scale Revised (ALSFRS-R), confirming the scale's ability to assess physical and mental health in ALS patients. Exploratory factor analysis showed a 6-factor structure consistent with the original structure. <i>Conclusion:</i> Turkish version of ALSSQOL-SF (ALSSQOL-SF-Tr) is a reliable and valid instrument for assessing the quality of life in Turkish ALS patients. Its application in clinical and research settings can help evaluate patient needs and improve disease management.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"526-534"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144144362","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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