Pub Date : 2019-10-09DOI: 10.1080/21678421.2019.1672748
E. Elliott, J. Newton, Phillipa Rewaj, Jenna M. Gregory, Lynda Tomarelli, Shuna Colville, S. Chandran, S. Pal
Abstract Objectives: People with motor neurone disease (pwMND) experience communication impairments due to speech and motor dysfunction. Communication support in the form of Augmentative and Alternative Communication (AAC) in conjunction with Assistive Technology (AT) access methods are available, however, variation in provision care pathways exists across Scotland. We conducted a baseline study of communication support for pwMND in Scotland to inform and improve future service provision. Methods : A cross-sectional population-based study was undertaken. Anonymised demographic and clinical phenotypic data for all pwMND in Scotland were extracted from the Care Audit Research Evaluation of MND (CARE-MND) platform, the National MND Register for Scotland. Additional information for AT loans was provided by the third sector charitable organization MND Scotland (MNDS). Results : In total, 371 pwMND were included, 43% of all pwMND were recorded as having impaired speech (recent ALSFRS-R score assessment 3) and 69% had been referred to Speech and Language Therapist (SLT) services, although there was variation in referral time from diagnosis date. AAC equipment had been acquired by 17.3% of all pwMND; most commonly iPads and the LightwriterTM speech generating device. Conclusions : Our data highlight a high prevalence of speech impairment in pwMND irrespective of the subtype diagnosis. We therefore recommend standardized care pathways and earlier access to coordinated SLT and Occupational Therapist services to enable prospective and personalized decision making. Our findings further highlight the need for qualitative research to understand the preferences and impact of such interventions from the perspective of the user and their communication partners.
{"title":"An epidemiological profile of dysarthria incidence and assistive technology use in the living population of people with MND in Scotland","authors":"E. Elliott, J. Newton, Phillipa Rewaj, Jenna M. Gregory, Lynda Tomarelli, Shuna Colville, S. Chandran, S. Pal","doi":"10.1080/21678421.2019.1672748","DOIUrl":"https://doi.org/10.1080/21678421.2019.1672748","url":null,"abstract":"Abstract Objectives: People with motor neurone disease (pwMND) experience communication impairments due to speech and motor dysfunction. Communication support in the form of Augmentative and Alternative Communication (AAC) in conjunction with Assistive Technology (AT) access methods are available, however, variation in provision care pathways exists across Scotland. We conducted a baseline study of communication support for pwMND in Scotland to inform and improve future service provision. Methods : A cross-sectional population-based study was undertaken. Anonymised demographic and clinical phenotypic data for all pwMND in Scotland were extracted from the Care Audit Research Evaluation of MND (CARE-MND) platform, the National MND Register for Scotland. Additional information for AT loans was provided by the third sector charitable organization MND Scotland (MNDS). Results : In total, 371 pwMND were included, 43% of all pwMND were recorded as having impaired speech (recent ALSFRS-R score assessment 3) and 69% had been referred to Speech and Language Therapist (SLT) services, although there was variation in referral time from diagnosis date. AAC equipment had been acquired by 17.3% of all pwMND; most commonly iPads and the LightwriterTM speech generating device. Conclusions : Our data highlight a high prevalence of speech impairment in pwMND irrespective of the subtype diagnosis. We therefore recommend standardized care pathways and earlier access to coordinated SLT and Occupational Therapist services to enable prospective and personalized decision making. Our findings further highlight the need for qualitative research to understand the preferences and impact of such interventions from the perspective of the user and their communication partners.","PeriodicalId":7740,"journal":{"name":"Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2019-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678421.2019.1672748","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48922922","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-08-30DOI: 10.1080/21678421.2019.1655059
Panagiotis Kourtesis, F. Christidi, E. Margioti, Christina Demenega, M. Rentzos, Ioannis Evdokimidis, Sharon Abrahams
Abstract Objectives: (1) Adapt the ECAS into Greek, validate it in ALS patients and compare with the ALS-CBS. (2) Determine the sensitivity and specificity of ECAS in the differentiation between AD and non-demented ALS patients as compared with the ACE-III and mini-ACE. Methods: ALS patients (n = 28) were recruited and AD patients (n = 26) were matched in age, sex, and education with ALS patients (n = 24). The normative data were derived from a random sample of controls (n = 52). Bayes correlation analysis was conducted to examine convergent validity. Bayes t-test was performed to assess between groups’ differences. Receiver operating characteristics (ROC) curve analyses and area under the curve (AUC) were implemented to appraise the sensitivity and specificity in the differentiation between the AD and non-demented ALS patients. Results: The ECAS and its sub-scores in addition to the behavior interview demonstrated robust correlations with the ALS-CBS. Impairment in language and verbal fluency were the most prominent deficits in the ALS patients. The most frequently reported change was apathy. The ROC analysis demonstrated that the ECAS-ALS nonspecific score (comprising memory and visuospatial domains) is the most sensitive and specific in differentiating the AD from ALS patients. The other measures expressed high sensitivity, yet a poor specificity. Conclusions: The ECAS is a multi-purpose screening tool. The ECAS-ALS specific appraises the whole spectrum of the highly prevalent cognitive impairments in ALS. The ECAS-ALS nonspecific (memory and visuospatial) is a sensitive score to detect AD related deficits and is able to differentiate the AD from the non-demented ALS patients better than the ACE-III and mini-ACE.
{"title":"The Edinburgh cognitive and behavioral amyotrophic lateral sclerosis screen (ECAS): sensitivity in differentiating between ALS and Alzheimer’s disease in a Greek population","authors":"Panagiotis Kourtesis, F. Christidi, E. Margioti, Christina Demenega, M. Rentzos, Ioannis Evdokimidis, Sharon Abrahams","doi":"10.1080/21678421.2019.1655059","DOIUrl":"https://doi.org/10.1080/21678421.2019.1655059","url":null,"abstract":"Abstract Objectives: (1) Adapt the ECAS into Greek, validate it in ALS patients and compare with the ALS-CBS. (2) Determine the sensitivity and specificity of ECAS in the differentiation between AD and non-demented ALS patients as compared with the ACE-III and mini-ACE. Methods: ALS patients (n = 28) were recruited and AD patients (n = 26) were matched in age, sex, and education with ALS patients (n = 24). The normative data were derived from a random sample of controls (n = 52). Bayes correlation analysis was conducted to examine convergent validity. Bayes t-test was performed to assess between groups’ differences. Receiver operating characteristics (ROC) curve analyses and area under the curve (AUC) were implemented to appraise the sensitivity and specificity in the differentiation between the AD and non-demented ALS patients. Results: The ECAS and its sub-scores in addition to the behavior interview demonstrated robust correlations with the ALS-CBS. Impairment in language and verbal fluency were the most prominent deficits in the ALS patients. The most frequently reported change was apathy. The ROC analysis demonstrated that the ECAS-ALS nonspecific score (comprising memory and visuospatial domains) is the most sensitive and specific in differentiating the AD from ALS patients. The other measures expressed high sensitivity, yet a poor specificity. Conclusions: The ECAS is a multi-purpose screening tool. The ECAS-ALS specific appraises the whole spectrum of the highly prevalent cognitive impairments in ALS. The ECAS-ALS nonspecific (memory and visuospatial) is a sensitive score to detect AD related deficits and is able to differentiate the AD from the non-demented ALS patients better than the ACE-III and mini-ACE.","PeriodicalId":7740,"journal":{"name":"Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2019-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678421.2019.1655059","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42242135","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-08-28DOI: 10.1080/21678421.2019.1655058
T. Kawada
Pupillo et al. conducted a case-control study to verify the association between food intake and amyotrophic lateral sclerosis (ALS) (1). I have some comments about their findings with special reference to coffee and tea consumption, which are protective factors for ALS. The authors reported that odds ratios (ORs) (95% confidence intervals [CIs]) of coffee and tea 0.29 (0.14–0.60). Beghi et al. also conducted a hospital-based case-control study to investigate the association between coffee intake and ALS (2). They set three controls, and ORs of current coffee drinkers for ALS significantly decreased. This finding supports preventive effect of coffee intake on ALS risk, although causal association should be verified by longitudinal and interventional studies. Relating to the causal association, Fondell et al. conducted a pooled analysis of prospective studies to examine the association between consumption of caffeine, coffee and tea and risk of ALS (3). ALS events were defined as incidence or death. Adjusted relative risk (95% CI) of highest quintile of caffeine intake against lowest quintile for ALS events was 0.96 (0.81–1.16), and there were no significant associations of caffeine or caffeinated beverages with ALS events. Events of incidence and death should be separated for the analysis as further study, because incident study would be more preferable for the prevention of ALS. About the mechanism of the association, Sc and Muralidhara summarized health benefits and risks of coffee and caffeine for ALS, which was mainly derived from animal and cell models (4). Not only caffeine, but also chlorogenic acid, caffeic acid, and hydroxy hydroquinone were considered as beneficial effects for ALS, although there were also undesirable effects of excessive coffee intakes. I recommend a prospective human study for ALS incidence with dose-response relationship to speculate the mechanism of the association.
{"title":"Preventive effect of coffee and tea on amyotrophic lateral sclerosis","authors":"T. Kawada","doi":"10.1080/21678421.2019.1655058","DOIUrl":"https://doi.org/10.1080/21678421.2019.1655058","url":null,"abstract":"Pupillo et al. conducted a case-control study to verify the association between food intake and amyotrophic lateral sclerosis (ALS) (1). I have some comments about their findings with special reference to coffee and tea consumption, which are protective factors for ALS. The authors reported that odds ratios (ORs) (95% confidence intervals [CIs]) of coffee and tea 0.29 (0.14–0.60). Beghi et al. also conducted a hospital-based case-control study to investigate the association between coffee intake and ALS (2). They set three controls, and ORs of current coffee drinkers for ALS significantly decreased. This finding supports preventive effect of coffee intake on ALS risk, although causal association should be verified by longitudinal and interventional studies. Relating to the causal association, Fondell et al. conducted a pooled analysis of prospective studies to examine the association between consumption of caffeine, coffee and tea and risk of ALS (3). ALS events were defined as incidence or death. Adjusted relative risk (95% CI) of highest quintile of caffeine intake against lowest quintile for ALS events was 0.96 (0.81–1.16), and there were no significant associations of caffeine or caffeinated beverages with ALS events. Events of incidence and death should be separated for the analysis as further study, because incident study would be more preferable for the prevention of ALS. About the mechanism of the association, Sc and Muralidhara summarized health benefits and risks of coffee and caffeine for ALS, which was mainly derived from animal and cell models (4). Not only caffeine, but also chlorogenic acid, caffeic acid, and hydroxy hydroquinone were considered as beneficial effects for ALS, although there were also undesirable effects of excessive coffee intakes. I recommend a prospective human study for ALS incidence with dose-response relationship to speculate the mechanism of the association.","PeriodicalId":7740,"journal":{"name":"Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2019-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678421.2019.1655058","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48814113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-08-27DOI: 10.1080/21678421.2019.1655061
E. Pupillo, E. Beghi
We thank Dr Kawada for highlighting the results of our case-control studies (1,2) that suggest a preventive effect of coffee and tea on ALS risk. Our data find support from the consistency of the results from two independent studies and the purported mechanism of the association, derived from animal and cell models (3). In addition, the analogy of the results from studies in patients with Parkinson’s disease and, to some extent, with Alzheimer’s disease (4,5) enforces the positive effects of caffeine and other coffee derivatives against neurodegeneration. However, we also convene with Dr Kawada that the results of our studies were not confirmed by a large multi-cohort study that used mortality for ALS among exposed and unexposed individuals (6). As acknowledged by the authors, the use of ALS mortality as a proxy for the incidence of the disease could lead to an underestimation of the risk, the educational level of the cohort was high and not truly representative of the underlying populations, and measurement errors in estimating caffeine intake could not be excluded. As no definite conclusions can be drawn from the present findings on the protective role of coffee against ALS and other neurodegenerative diseases, we convene with Dr Kawada on the need to plan and undertake a prospective study comparing coffee users and non-users, measuring the quantity of caffeine intake, and assessing the incidence of ALS, Parkinson’s and Alzheimer’s disease during follow-up among exposed and unexposed individuals.
{"title":"Author response to a Letter to the Editor entitled: Preventive effect of coffee and tea on amyotrophic lateral sclerosis","authors":"E. Pupillo, E. Beghi","doi":"10.1080/21678421.2019.1655061","DOIUrl":"https://doi.org/10.1080/21678421.2019.1655061","url":null,"abstract":"We thank Dr Kawada for highlighting the results of our case-control studies (1,2) that suggest a preventive effect of coffee and tea on ALS risk. Our data find support from the consistency of the results from two independent studies and the purported mechanism of the association, derived from animal and cell models (3). In addition, the analogy of the results from studies in patients with Parkinson’s disease and, to some extent, with Alzheimer’s disease (4,5) enforces the positive effects of caffeine and other coffee derivatives against neurodegeneration. However, we also convene with Dr Kawada that the results of our studies were not confirmed by a large multi-cohort study that used mortality for ALS among exposed and unexposed individuals (6). As acknowledged by the authors, the use of ALS mortality as a proxy for the incidence of the disease could lead to an underestimation of the risk, the educational level of the cohort was high and not truly representative of the underlying populations, and measurement errors in estimating caffeine intake could not be excluded. As no definite conclusions can be drawn from the present findings on the protective role of coffee against ALS and other neurodegenerative diseases, we convene with Dr Kawada on the need to plan and undertake a prospective study comparing coffee users and non-users, measuring the quantity of caffeine intake, and assessing the incidence of ALS, Parkinson’s and Alzheimer’s disease during follow-up among exposed and unexposed individuals.","PeriodicalId":7740,"journal":{"name":"Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2019-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678421.2019.1655061","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45537049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-08-21DOI: 10.1080/21678421.2019.1646769
M. Benatar, J. Wuu, V. Lombardi, A. Jeromin, R. Bowser, P. Andersen, A. Malaspina
Abstract Objective. To evaluate serum and cerebrospinal fluid (CSF) levels of phosphorylated neurofilament heavy (pNfH), and to compare these to levels of neurofilament light (NfL), as biomarkers of pre-symptomatic ALS. Design. The study population includes 34 controls, 79 individuals at-risk for ALS, 22 ALS patients, and 14 phenoconverters. At-risk individuals are enrolled through Pre-Symptomatic Familial ALS (Pre-fALS), a longitudinal natural history and biomarker study of individuals who are carriers of any ALS-associated gene mutation, but who demonstrate no clinical evidence of disease at the time of enrollment. pNfH and NfL in serum and CSF were quantified using established enzyme-linked immunosorbent assays. Results. There is a longitudinal increase in serum pNfH in advance of the emergence of clinically manifest ALS. A similar pattern is observed for NfL, but with the absolute levels also frequently exceeding a normative threshold. Although CSF data are more sparse, similar patterns are observed for both neurofilaments, with absolute levels exceeding a normative threshold prior to phenoconversion. In serum, these changes are observed in the 6–12 months prior to disease among SOD1 A4V mutation carriers, and as far back as 2 and 3.5 years, respectively, in individuals with a FUS c.521del6 mutation and a C9ORF72 hexanucleotide repeat expansion. Conclusions. Serum and CSF pNfH increase prior to phenoconversion. In CSF, the temporal course of these changes is similar to NfL. In serum, however, pNfH is less sensitive to pre-symptomatic disease than NfL. The duration of pre-symptomatic disease, as defined by changes in neurofilaments, may vary depending on underlying genotype.
{"title":"Neurofilaments in pre-symptomatic ALS and the impact of genotype","authors":"M. Benatar, J. Wuu, V. Lombardi, A. Jeromin, R. Bowser, P. Andersen, A. Malaspina","doi":"10.1080/21678421.2019.1646769","DOIUrl":"https://doi.org/10.1080/21678421.2019.1646769","url":null,"abstract":"Abstract Objective. To evaluate serum and cerebrospinal fluid (CSF) levels of phosphorylated neurofilament heavy (pNfH), and to compare these to levels of neurofilament light (NfL), as biomarkers of pre-symptomatic ALS. Design. The study population includes 34 controls, 79 individuals at-risk for ALS, 22 ALS patients, and 14 phenoconverters. At-risk individuals are enrolled through Pre-Symptomatic Familial ALS (Pre-fALS), a longitudinal natural history and biomarker study of individuals who are carriers of any ALS-associated gene mutation, but who demonstrate no clinical evidence of disease at the time of enrollment. pNfH and NfL in serum and CSF were quantified using established enzyme-linked immunosorbent assays. Results. There is a longitudinal increase in serum pNfH in advance of the emergence of clinically manifest ALS. A similar pattern is observed for NfL, but with the absolute levels also frequently exceeding a normative threshold. Although CSF data are more sparse, similar patterns are observed for both neurofilaments, with absolute levels exceeding a normative threshold prior to phenoconversion. In serum, these changes are observed in the 6–12 months prior to disease among SOD1 A4V mutation carriers, and as far back as 2 and 3.5 years, respectively, in individuals with a FUS c.521del6 mutation and a C9ORF72 hexanucleotide repeat expansion. Conclusions. Serum and CSF pNfH increase prior to phenoconversion. In CSF, the temporal course of these changes is similar to NfL. In serum, however, pNfH is less sensitive to pre-symptomatic disease than NfL. The duration of pre-symptomatic disease, as defined by changes in neurofilaments, may vary depending on underlying genotype.","PeriodicalId":7740,"journal":{"name":"Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2019-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678421.2019.1646769","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47764921","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-07-31DOI: 10.1080/21678421.2019.1645858
C. Jackson, T. Heiman-Patterson, Pamela Kittrell, Tatyana Baranovsky, Glenn McAnanama, Laura Bower, W. Agnese, Mike Martin
Abstract Background: Radicava® (edaravone), approved for the treatment of amyotrophic lateral sclerosis (ALS) in 2017, may be administered intravenously at clinic sites, infusion centers or at home. Objective: To gain insights into the utilization of Radicava® at 1 year post-launch. Methods: Radicava® usage data were collected, and a survey was conducted among 75 physicians. Adverse events (AEs) were identified from a post-marketing safety database from 8 August 2017 through 3 August 2018 (cutoff date). Results: As of 6 August 2018, 3007 ALS patients were treated with Radicava®. Survey results indicated that 43% of patients received infusions at home, 32% in a clinician’s office, and 26% at a referred site. Infusions were administered mainly via implanted port. The most commonly reported AEs were drug ineffective, death (not specified), therapeutic response unexpected, asthenia, fatigue, gait disturbance, disease progression, muscular weakness, fall, and dyspnea. Conclusions: The first year of Radicava® availability to ALS patients in the US provided many key learnings that will help shape strategies for improved patient care.
{"title":"Radicava (edaravone) for amyotrophic lateral sclerosis: US experience at 1 year after launch","authors":"C. Jackson, T. Heiman-Patterson, Pamela Kittrell, Tatyana Baranovsky, Glenn McAnanama, Laura Bower, W. Agnese, Mike Martin","doi":"10.1080/21678421.2019.1645858","DOIUrl":"https://doi.org/10.1080/21678421.2019.1645858","url":null,"abstract":"Abstract Background: Radicava® (edaravone), approved for the treatment of amyotrophic lateral sclerosis (ALS) in 2017, may be administered intravenously at clinic sites, infusion centers or at home. Objective: To gain insights into the utilization of Radicava® at 1 year post-launch. Methods: Radicava® usage data were collected, and a survey was conducted among 75 physicians. Adverse events (AEs) were identified from a post-marketing safety database from 8 August 2017 through 3 August 2018 (cutoff date). Results: As of 6 August 2018, 3007 ALS patients were treated with Radicava®. Survey results indicated that 43% of patients received infusions at home, 32% in a clinician’s office, and 26% at a referred site. Infusions were administered mainly via implanted port. The most commonly reported AEs were drug ineffective, death (not specified), therapeutic response unexpected, asthenia, fatigue, gait disturbance, disease progression, muscular weakness, fall, and dyspnea. Conclusions: The first year of Radicava® availability to ALS patients in the US provided many key learnings that will help shape strategies for improved patient care.","PeriodicalId":7740,"journal":{"name":"Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2019-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678421.2019.1645858","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44028736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-07-26DOI: 10.1080/21678421.2019.1643374
M. Barone, M. T. Viggiani, Alessandro Introna, E. D’Errico, A. Scarafino, A. Iannone, A. Di Leo, I. Simone
Abstract Objective: There are conflicting data on nutritional factors influencing survival in amyotrophic lateral sclerosis (ALS) patients after percutaneous endoscopic gastrostomy (PEG) placement. We performed an observational cross-sectional study evaluating body mass index (BMI) categories and cholesterol levels as prognostic factors for survival after PEG. Moreover, we assessed body composition in a subgroup of patients to better explain the influence of BMI on survival. Methods: Neurological and nutritional parameters were evaluated at the time of PEG implantation in 47 consecutive patients. Moreover, body composition was evaluated in a subgroup of 22 patients by bioelectrical impedance analysis. Survival was calculated as the time from the PEG placement to death. Results: Underweight patients had a significantly increased risk of death as compared to normal-weight patients using Cox regression analysis [HR = 3.37 (1.29–8.81); p = 0.04]. Similarly, older age at the onset of symptoms significantly increased the risk of death [HR = 1.07 (1.02–1.12); p = 0.001]. Neither overweight/obesity nor hypercholesterolemia affected survival. All ALS patients showed an altered body composition compared to the general population. In addition, a BMI <18.5 kg/m2 identified patients with a significant reduction of body cell mass (BCM) and phase angle (PhA) compared to patients with normal BMI taken as the reference value. Conclusions: In the later stages of the disease, only a BMI < 18.5 kg/m2 and older age at symptom onset had a prognostic value on survival. Dyslipidemia did not affect survival. The low BCM and PhA characterizing underweight patients support the role of BMI as a predictor of survival.
{"title":"Nutritional prognostic factors for survival in amyotrophic lateral sclerosis patients undergone percutaneous endoscopic gastrostomy placement","authors":"M. Barone, M. T. Viggiani, Alessandro Introna, E. D’Errico, A. Scarafino, A. Iannone, A. Di Leo, I. Simone","doi":"10.1080/21678421.2019.1643374","DOIUrl":"https://doi.org/10.1080/21678421.2019.1643374","url":null,"abstract":"Abstract Objective: There are conflicting data on nutritional factors influencing survival in amyotrophic lateral sclerosis (ALS) patients after percutaneous endoscopic gastrostomy (PEG) placement. We performed an observational cross-sectional study evaluating body mass index (BMI) categories and cholesterol levels as prognostic factors for survival after PEG. Moreover, we assessed body composition in a subgroup of patients to better explain the influence of BMI on survival. Methods: Neurological and nutritional parameters were evaluated at the time of PEG implantation in 47 consecutive patients. Moreover, body composition was evaluated in a subgroup of 22 patients by bioelectrical impedance analysis. Survival was calculated as the time from the PEG placement to death. Results: Underweight patients had a significantly increased risk of death as compared to normal-weight patients using Cox regression analysis [HR = 3.37 (1.29–8.81); p = 0.04]. Similarly, older age at the onset of symptoms significantly increased the risk of death [HR = 1.07 (1.02–1.12); p = 0.001]. Neither overweight/obesity nor hypercholesterolemia affected survival. All ALS patients showed an altered body composition compared to the general population. In addition, a BMI <18.5 kg/m2 identified patients with a significant reduction of body cell mass (BCM) and phase angle (PhA) compared to patients with normal BMI taken as the reference value. Conclusions: In the later stages of the disease, only a BMI < 18.5 kg/m2 and older age at symptom onset had a prognostic value on survival. Dyslipidemia did not affect survival. The low BCM and PhA characterizing underweight patients support the role of BMI as a predictor of survival.","PeriodicalId":7740,"journal":{"name":"Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2019-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678421.2019.1643374","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44896773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-07-24DOI: 10.1080/21678421.2019.1643376
M. de Carvalho, M. Swash
The “split hand” in amyotrophic lateral sclerosis (ALS), first described by Wilbourn (1), is characterized by predominant atrophy and weakness of the thenar muscles, with relative sparing of the hypothenar muscles. This clinical observation was confirmed by neurophysiological studies, evaluating compound muscle action potential (CMAP) amplitude and the number of motor units (MUs) (2–4). A split-hand index has been proposed (4), with a cutoff value for the differential diagnosis between ALS versus non-ALS. The physiological basis for the split-hand phenomenon is not clear, but both cortical and peripheral mechanisms may be important (5). More recently, a “split-leg phenomenon” has been described, with a greater reduction in the number of MUs and CMAP in plantar flexors compared with dorsiflexors (6). However, subsequent studies have described predominant dorsiflexor weakness, contrary to the original report (7). We here describe an ALS patient with “splitleg” features in one leg, but with an inverted splitleg phenomenon in his opposite leg, implying a measure of inconsistency of the predominant pattern of distal lower limb (LL) involvement. A 63-year-old man followed in our ALS clinic in Lisbon for progressive LL weakness and atrophy presented 6 years ago with right foot-drop. LL weakness progressed proximally, with fasciculation and cramps in the legs, without pain or sensory loss. He is now able to walk only with foot orthoses and a cane. He has no bulbar, respiratory, or upper limb (UL) symptoms. On recent examination, proximal (MRC 4) and distal (MRC 0-2) segments of the LLs were weak and atrophic. In the right leg plantar flexion was MRC 2, but foot dorsiflexion was absent. In the left leg foot dorsiflexion was MRC 2, but plantar flexion was absent. The knee jerks were brisk (þþþ). The right ankle jerk was just present, but the left ankle jerk and both plantar responses were absent. Nociceptive and large fiber-dependent sensibility in LLs was normal. In the ULs there was no weakness or atrophy, but fasciculations were present in proximal and distal muscles bilaterally, and the tendon reflexes were brisk (þþþ). A Hoffman sign was detected on the right side. The bulbar region was normal. Brain and spinal-cord MRI and CSF analysis were unremarkable. Laboratory investigation excluded autoimmune disorders, and respiratory tests have been repeatedly normal. Current electrophysiological investigation shows normal motor conduction velocities were normal in ULs (both ulnar nerves), and normal sensory potentials in UL and LLs (ulnar, sural, and peroneal nerves, bilaterally). LL motor conduction studies are summarized in Table 1. Needle electromyography (EMG) of the ULs confirmed the presence of fasciculation potentials in proximal (biceps) and distal (first dorsal interosseous) muscles, associated with chronic neurogenic changes in first dorsal interosseous muscles. In the LLs, frequent complex fasciculation potentials and very unstable MUs were detect
{"title":"The “split-leg” syndrome in ALS: specific or variable?","authors":"M. de Carvalho, M. Swash","doi":"10.1080/21678421.2019.1643376","DOIUrl":"https://doi.org/10.1080/21678421.2019.1643376","url":null,"abstract":"The “split hand” in amyotrophic lateral sclerosis (ALS), first described by Wilbourn (1), is characterized by predominant atrophy and weakness of the thenar muscles, with relative sparing of the hypothenar muscles. This clinical observation was confirmed by neurophysiological studies, evaluating compound muscle action potential (CMAP) amplitude and the number of motor units (MUs) (2–4). A split-hand index has been proposed (4), with a cutoff value for the differential diagnosis between ALS versus non-ALS. The physiological basis for the split-hand phenomenon is not clear, but both cortical and peripheral mechanisms may be important (5). More recently, a “split-leg phenomenon” has been described, with a greater reduction in the number of MUs and CMAP in plantar flexors compared with dorsiflexors (6). However, subsequent studies have described predominant dorsiflexor weakness, contrary to the original report (7). We here describe an ALS patient with “splitleg” features in one leg, but with an inverted splitleg phenomenon in his opposite leg, implying a measure of inconsistency of the predominant pattern of distal lower limb (LL) involvement. A 63-year-old man followed in our ALS clinic in Lisbon for progressive LL weakness and atrophy presented 6 years ago with right foot-drop. LL weakness progressed proximally, with fasciculation and cramps in the legs, without pain or sensory loss. He is now able to walk only with foot orthoses and a cane. He has no bulbar, respiratory, or upper limb (UL) symptoms. On recent examination, proximal (MRC 4) and distal (MRC 0-2) segments of the LLs were weak and atrophic. In the right leg plantar flexion was MRC 2, but foot dorsiflexion was absent. In the left leg foot dorsiflexion was MRC 2, but plantar flexion was absent. The knee jerks were brisk (þþþ). The right ankle jerk was just present, but the left ankle jerk and both plantar responses were absent. Nociceptive and large fiber-dependent sensibility in LLs was normal. In the ULs there was no weakness or atrophy, but fasciculations were present in proximal and distal muscles bilaterally, and the tendon reflexes were brisk (þþþ). A Hoffman sign was detected on the right side. The bulbar region was normal. Brain and spinal-cord MRI and CSF analysis were unremarkable. Laboratory investigation excluded autoimmune disorders, and respiratory tests have been repeatedly normal. Current electrophysiological investigation shows normal motor conduction velocities were normal in ULs (both ulnar nerves), and normal sensory potentials in UL and LLs (ulnar, sural, and peroneal nerves, bilaterally). LL motor conduction studies are summarized in Table 1. Needle electromyography (EMG) of the ULs confirmed the presence of fasciculation potentials in proximal (biceps) and distal (first dorsal interosseous) muscles, associated with chronic neurogenic changes in first dorsal interosseous muscles. In the LLs, frequent complex fasciculation potentials and very unstable MUs were detect","PeriodicalId":7740,"journal":{"name":"Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2019-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678421.2019.1643376","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42087510","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-07-17DOI: 10.1080/21678421.2019.1639194
Deirdre Murray, J. Rooney, Anna Campion, Lauren Fenton, Michaela Hammond, M. Heverin, D. Meldrum, H. Moloney, R. Tattersall, O. Hardiman
Abstract Objective: Sniff nasal inspiratory pressure (SNIP) is a commonly used clinical measure of respiratory impairment in amyotrophic lateral sclerosis (ALS), which is used to guide the initiation of noninvasive ventilation (NIV). SNIP can be completed with either an occluded or an un-occluded contralateral nostril. The aim of this study was to compare occluded and un-occluded SNIP measurements and to examine the decline in occluded SNIP over time compared to the ALSFRS-R respiratory subscore. Methods: This was a prospective longitudinal study examining occluded and un-occluded SNIP scores in ALS and PLS patients recorded between 2001 and 2018. Bland and Altman graphs were plotted for occluded vs. un-occluded SNIP measurements taking account of the repeated measures nature of the data. Longitudinal models were constructed as linear mixed effects multi-level models with follow-up in ALS limited to 6 years. Results: SNIP measured with an occluded contralateral nostril was systematically higher than with an un-occluded nostril. SNIP measured using both methods declined non-linearly, particularly after 2–3 years. The best fit model for decline in occluded SNIP included a main effect and interaction between site of onset and time, with age and diagnostic delay as independent variables. This showed a linear decline in spinal onset with a floor effect in bulbar-onset ALS. Conclusion: SNIP measured with an occluded and un-occluded contralateral nostril is not interchangeable, which is relevant in interpreting thresholds for initiation of NIV. SNIP declines non-linearly, which is explained in spinal onset ALS by age and diagnostic delay, but an apparent floor effect remains in bulbar onset.
{"title":"Longitudinal analysis of sniff nasal inspiratory pressure assessed using occluded and un-occluded measurement techniques in amyotrophic lateral sclerosis and primary lateral sclerosis","authors":"Deirdre Murray, J. Rooney, Anna Campion, Lauren Fenton, Michaela Hammond, M. Heverin, D. Meldrum, H. Moloney, R. Tattersall, O. Hardiman","doi":"10.1080/21678421.2019.1639194","DOIUrl":"https://doi.org/10.1080/21678421.2019.1639194","url":null,"abstract":"Abstract Objective: Sniff nasal inspiratory pressure (SNIP) is a commonly used clinical measure of respiratory impairment in amyotrophic lateral sclerosis (ALS), which is used to guide the initiation of noninvasive ventilation (NIV). SNIP can be completed with either an occluded or an un-occluded contralateral nostril. The aim of this study was to compare occluded and un-occluded SNIP measurements and to examine the decline in occluded SNIP over time compared to the ALSFRS-R respiratory subscore. Methods: This was a prospective longitudinal study examining occluded and un-occluded SNIP scores in ALS and PLS patients recorded between 2001 and 2018. Bland and Altman graphs were plotted for occluded vs. un-occluded SNIP measurements taking account of the repeated measures nature of the data. Longitudinal models were constructed as linear mixed effects multi-level models with follow-up in ALS limited to 6 years. Results: SNIP measured with an occluded contralateral nostril was systematically higher than with an un-occluded nostril. SNIP measured using both methods declined non-linearly, particularly after 2–3 years. The best fit model for decline in occluded SNIP included a main effect and interaction between site of onset and time, with age and diagnostic delay as independent variables. This showed a linear decline in spinal onset with a floor effect in bulbar-onset ALS. Conclusion: SNIP measured with an occluded and un-occluded contralateral nostril is not interchangeable, which is relevant in interpreting thresholds for initiation of NIV. SNIP declines non-linearly, which is explained in spinal onset ALS by age and diagnostic delay, but an apparent floor effect remains in bulbar onset.","PeriodicalId":7740,"journal":{"name":"Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2019-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678421.2019.1639194","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46622240","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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