Errata: Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

Reports an error in Davis et al. (2010). The functional motor scale used in Davis et al. (2010) was the EK (Egen Klassifikation) Scale, rather than the Amyotrophic Lateral Sclerosis Functional Rating Scale (Steffensen et al., 2002; Cedarbaum & Stambler, 1997). Both scales are 10-item, disease-specific measures that assess mobility and respiratory function in individuals with progressive muscle weakness. This error does not change the conclusions. DOI:10.2458/azu_jmmss_v1i2_davis

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Informal Caregiving in Amyotrophic Lateral Sclerosis (ALS): A High Caregiver Burden and Drastic Consequences on Caregivers’ Lives

Brain Sciences ◽

10.3390/brainsci11060748 ◽

2021 ◽

Vol 11 (6) ◽

pp. 748

Author(s):

Pavel Schischlevskij ◽

Isabell Cordts ◽

René Günther ◽

Benjamin Stolte ◽

Daniel Zeller ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Functional Status ◽

Disease Severity ◽

Caregiver Burden ◽

Rating Scale ◽

Depression Scale ◽

Anxiety And Depression ◽

Daily Routine ◽

Work Lives ◽

Lateral Sclerosis

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that causes progressive autonomy loss and need for care. This does not only affect patients themselves, but also the patients’ informal caregivers (CGs) in their health, personal and professional lives. The big efforts of this multi-center study were not only to evaluate the caregivers’ burden and to identify its predictors, but it also should provide a specific understanding of the needs of ALS patients’ CGs and fill the gap of knowledge on their personal and work lives. Using standardized questionnaires, primary data from patients and their main informal CGs (n = 249) were collected. Patients’ functional status and disease severity were evaluated using the Barthel Index, the revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R) and the King’s Stages for ALS. The caregivers’ burden was recorded by the Zarit Burden Interview (ZBI). Comorbid anxiety and depression of caregivers were assessed by the Hospital Anxiety and Depression Scale. Additionally, the EuroQol Five Dimension Five Level Scale evaluated their health-related quality of life. The caregivers’ burden was high (mean ZBI = 26/88, 0 = no burden, ≥24 = highly burdened) and correlated with patients’ functional status (rp = −0.555, p < 0.001, n = 242). It was influenced by the CGs’ own mental health issues due to caregiving (+11.36, 95% CI [6.84; 15.87], p < 0.001), patients’ wheelchair dependency (+9.30, 95% CI [5.94; 12.66], p < 0.001) and was interrelated with the CGs’ depression (rp = 0.627, p < 0.001, n = 234), anxiety (rp = 0.550, p < 0.001, n = 234), and poorer physical condition (rp = −0.362, p < 0.001, n = 237). Moreover, female CGs showed symptoms of anxiety more often, which also correlated with the patients’ impairment in daily routine (rs = −0.280, p < 0.001, n = 169). As increasing disease severity, along with decreasing autonomy, was the main predictor of caregiver burden and showed to create relevant (negative) implications on CGs’ lives, patient care and supportive therapies should address this issue. Moreover, in order to preserve the mental and physical health of the CGs, new concepts of care have to focus on both, on not only patients but also their CGs and gender-associated specific issues. As caregiving in ALS also significantly influences the socioeconomic status by restrictions in CGs’ work lives and income, and the main reported needs being lack of psychological support and a high bureaucracy, the situation of CGs needs more attention. Apart from their own multi-disciplinary medical and psychological care, more support in care and patient management issues is required.

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Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

Journal of Methods and Measurement in the Social Sciences ◽

10.2458/jmm.v1i1.76 ◽

2010 ◽

Vol 1 (1) ◽

pp. 8 ◽

Cited By ~ 1

Author(s):

Melinda F. Davis ◽

Katalin H. Scherer ◽

Timothy M. Miller ◽

F. John Meaney

Keyword(s):

Muscular Dystrophy ◽

Medical History ◽

Disease Progression ◽

Disease Severity ◽

Rating Scale ◽

Becker Muscular Dystrophy ◽

Assisted Ventilation ◽

Structured Interviews ◽

Course Of Disease ◽

Outcome Indicators

Medical investigations use a wide variety of outcome indicators that are often not comparable. It can be challenging to integrate results across multiple studies that do not share a common metric. Some conditions such as Duchenne and Becker muscular dystrophy have a predictable course of disease progression. Severity can be inferred from a patient's medical history. This paper describes the development of a disease severity measure using common markers of disease progression. Rasch modeling was used to estimate severity using dichotomous events that indicate disease progression. Caregivers of 34 young men with Duchenne or Becker muscular dystrophy completed structured interviews about their care and medical history. Interview questions included surgeries (tendon release, scoliosis, tracheostomy), respiratory equipment (assisted ventilation, cough assist devices), and the use of other medical equipment (e.g., braces, walkers, wheelchairs, transfer boards, hospital beds). The resulting measure had a reliability of .83. The correlation between the severity measure and the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS) was .68. Preliminary results and item calibrations are provided for the severity measure that can be estimated from caregiver reports or administrative data. DOI:10.2458/azu_jmmss_v1i1_davis

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The C9orf72 expansion is associated with accelerated respiratory function decline in a large Amyotrophic Lateral Sclerosis cohort

HRB Open Research ◽

10.12688/hrbopenres.12940.1 ◽

2019 ◽

Vol 2 ◽

pp. 23

Author(s):

James Rooney ◽

Deirdre Murray ◽

Anna Campion ◽

Hannah Moloney ◽

Rachel Tattersall ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Respiratory Function ◽

Rating Scale ◽

Repeat Expansion ◽

Joint Models ◽

Hexanucleotide Repeat ◽

Negative Effect ◽

Prognostic Importance ◽

And Gender ◽

Lateral Sclerosis

Introduction: The C9orf72 hexanucleotide repeat expansion is causal in amyotrophic lateral sclerosis (ALS) and has a negative effect on prognosis. The C9orf72 repeat expansion has been associated with an accelerated deterioration of respiratory function and survival in a cohort of 372 Portuguese patients. Methods: Cases presenting to the Irish ALS clinic with both longitudinal occluded sniff nasal inspiratory pressure (SNIP) and C9orf72 testing were including in the study. Clinical variables and survival characteristics of these patients were collected. Joint longitudinal and time to event models were constructed to explore the longitudinal characteristics of the cohort by C9orf72 status. Results: In total, 630 cases were included, of which 58 (9.2%) carried the C9orf72 repeat expansion. Plots of the longitudinal trend after joint modelling revealed that those carrying the expansion had worse respiratory function throughout the course of their disease than those without. The ALS Functional Rating Scale-revised (ALSFRS-R) respiratory sub-score did not distinguish C9orf72 normal from expanded cases. Furthermore, modelling by site of onset and gender sub-groups revealed that this difference was greatest in male spinal onset cases. Joint models further indicated that occluded SNIP values were of prognostic importance. Conclusions: Our results confirm findings from Portugal that the C9orf72 repeat expansion is associated with accelerated respiratory function decline. Analysis via joint models indicate that respiratory function is of prognostic importance and may explain previous observations of poorer prognosis in male spinal onset patients carrying the C9orf72 expansion.

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Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

Journal of Methods and Measurement in the Social Sciences ◽

10.2458/azu_jmmss_v1i1_8-18 ◽

2010 ◽

Vol 1 (1) ◽

pp. 8

Author(s):

Melinda F. Davis ◽

Katalin H. Scherer ◽

Timothy M. Miller ◽

F. John Meaney

Keyword(s):

Muscular Dystrophy ◽

Medical History ◽

Disease Progression ◽

Disease Severity ◽

Rating Scale ◽

Becker Muscular Dystrophy ◽

Assisted Ventilation ◽

Structured Interviews ◽

Course Of Disease ◽

Outcome Indicators

Medical investigations use a wide variety of outcome indicators that are often not comparable. It can be challenging to integrate results across multiple studies that do not share a common metric. Some conditions such as Duchenne and Becker muscular dystrophy have a predictable course of disease progression. Severity can be inferred from a patient's medical history. This paper describes the development of a disease severity measure using common markers of disease progression. Rasch modeling was used to estimate severity using dichotomous events that indicate disease progression. Caregivers of 34 young men with Duchenne or Becker muscular dystrophy completed structured interviews about their care and medical history. Interview questions included surgeries (tendon release, scoliosis, tracheostomy), respiratory equipment (assisted ventilation, cough assist devices), and the use of other medical equipment (e.g., braces, walkers, wheelchairs, transfer boards, hospital beds). The resulting measure had a reliability of .83. The correlation between the severity measure and the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS) was .68. Preliminary results and item calibrations are provided for the severity measure that can be estimated from caregiver reports or administrative data. DOI:10.2458/azu_jmmss_v1i1_davis

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O-23 Cervical muscle weakness correlates with respiratory function in Amyotrophic Lateral Sclerosis

Clinical Neurophysiology ◽

10.1016/j.clinph.2019.04.339 ◽

2019 ◽

Vol 130 (7) ◽

pp. e29

Author(s):

Susana Pinto ◽

Marta Gromicho ◽

Michael Swash ◽

Mamede Carvalho

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Muscle Weakness ◽

Respiratory Function ◽

Cervical Muscle ◽

Lateral Sclerosis

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Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

Journal of Methods and Measurement in the Social Sciences ◽

10.2458/azu_jmmss_v1i1_p8-18 ◽

2010 ◽

Vol 1 (1) ◽

pp. 8

Author(s):

Melinda F. Davis ◽

Katalin H. Scherer ◽

Timothy M. Miller ◽

F. John Meaney

Keyword(s):

Muscular Dystrophy ◽

Medical History ◽

Disease Progression ◽

Disease Severity ◽

Rating Scale ◽

Becker Muscular Dystrophy ◽

Assisted Ventilation ◽

Structured Interviews ◽

Course Of Disease ◽

Outcome Indicators

Medical investigations use a wide variety of outcome indicators that are often not comparable. It can be challenging to integrate results across multiple studies that do not share a common metric. Some conditions such as Duchenne and Becker muscular dystrophy have a predictable course of disease progression. Severity can be inferred from a patient's medical history. This paper describes the development of a disease severity measure using common markers of disease progression. Rasch modeling was used to estimate severity using dichotomous events that indicate disease progression. Caregivers of 34 young men with Duchenne or Becker muscular dystrophy completed structured interviews about their care and medical history. Interview questions included surgeries (tendon release, scoliosis, tracheostomy), respiratory equipment (assisted ventilation, cough assist devices), and the use of other medical equipment (e.g., braces, walkers, wheelchairs, transfer boards, hospital beds). The resulting measure had a reliability of .83. The correlation between the severity measure and the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS) was .68. Preliminary results and item calibrations are provided for the severity measure that can be estimated from caregiver reports or administrative data. DOI:10.2458/azu_jmmss_v1i1_davis

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Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

Journal of Methods and Measurement in the Social Sciences ◽

10.2458/v1i1.76 ◽

2010 ◽

Vol 1 (1) ◽

pp. 8 ◽

Cited By ~ 2

Author(s):

Melinda F. Davis ◽

Katalin H. Scherer ◽

Timothy M. Miller ◽

F. John Meaney

Keyword(s):

Muscular Dystrophy ◽

Medical History ◽

Disease Progression ◽

Disease Severity ◽

Rating Scale ◽

Becker Muscular Dystrophy ◽

Assisted Ventilation ◽

Structured Interviews ◽

Course Of Disease ◽

Outcome Indicators

Medical investigations use a wide variety of outcome indicators that are often not comparable. It can be challenging to integrate results across multiple studies that do not share a common metric. Some conditions such as Duchenne and Becker muscular dystrophy have a predictable course of disease progression. Severity can be inferred from a patient's medical history. This paper describes the development of a disease severity measure using common markers of disease progression. Rasch modeling was used to estimate severity using dichotomous events that indicate disease progression. Caregivers of 34 young men with Duchenne or Becker muscular dystrophy completed structured interviews about their care and medical history. Interview questions included surgeries (tendon release, scoliosis, tracheostomy), respiratory equipment (assisted ventilation, cough assist devices), and the use of other medical equipment (e.g., braces, walkers, wheelchairs, transfer boards, hospital beds). The resulting measure had a reliability of .83. The correlation between the severity measure and the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS) was .68. Preliminary results and item calibrations are provided for the severity measure that can be estimated from caregiver reports or administrative data. DOI:10.2458/azu_jmmss_v1i1_davis

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Abnormal Stability of Dynamic Functional Architecture in Amyotrophic Lateral Sclerosis: A Preliminary Resting-State fMRI Study

Frontiers in Neurology ◽

10.3389/fneur.2021.744688 ◽

2021 ◽

Vol 12 ◽

Author(s):

Jin Wei ◽

Jia-Hui Lin ◽

Li-Min Cai ◽

Jia-Yan Shi ◽

Xiao-Hong Zhang ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Disease Severity ◽

Resting State ◽

Rating Scale ◽

Functional Stability ◽

Functional Architecture ◽

Temporal Pole ◽

The Right ◽

Als Patients ◽

Lateral Sclerosis

Purpose: Static and dynamic analyses for identifying functional connectivity (FC) have demonstrated brain dysfunctions in amyotrophic lateral sclerosis (ALS). However, few studies on the stability of dynamic FC have been conducted among ALS patients. This study explored the change of functional stability in ALS and how it correlates with disease severity.Methods: We gathered resting-state functional magnetic resonance data from 20 patients with ALS and 22 healthy controls (HCs). The disease severity was assessed with the Revised ALS Functional Rating Scale (ALSFRS-R). We used a sliding window correlation approach to identify dynamic FC and measured the concordance of dynamic FC over time to obtain the functional stability of each voxel. We assessed the between-group difference in functional stability by voxel-wise two-sample t-test. The correlation between the functional stability index and ALSFRS-R in ALS patients was evaluated using Spearman's correlation analysis.Results: Compared with the HC group, the ALS group had significantly increased functional stability in the left pre-central and post-central gyrus and right temporal pole while decreased functional stability in the right middle and inferior frontal gyrus. The results revealed a significant correlation between ALSFRS-R and the mean functional stability in the right temporal pole (r = −0.452 and P = 0.046) in the ALS patients.Conclusions: ALS patients have abnormal stability of brain functional architecture, which is associated with the severity of the disease.

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