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Archives of Physical Medicine and... Dec 2022To estimate the prevalence of neuropsychiatric disorders, including autism spectrum disorders (ASDs), attention-deficit hyperactivity disorder (ADHD), depression,... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To estimate the prevalence of neuropsychiatric disorders, including autism spectrum disorders (ASDs), attention-deficit hyperactivity disorder (ADHD), depression, anxiety disorders, and obsessive-compulsive disorder (OCD), in populations with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD).
DATA SOURCES
MEDLINE (via PubMed), Scopus, Web of Science, and Cochrane Library from inception to November 2021.
STUDY SELECTION
Observational studies of individuals with DMD or BMD that estimated the prevalence of ASDs, ADHD, depression, anxiety disorders, and OCD in each population.
DATA EXTRACTION
A random-effects meta-analysis was performed on each outcome and each population (ie, DMD, BMD).
DATA SYNTHESIS
Twenty-three studies were included in the meta-analysis. In DMD, there was a prevalence of 7.0% of ASDs, 18.0% of ADHD, 11.0% of depression, 24.0% of anxiety disorders, and 12.0% of OCD. Furthermore, in BMD, there was a prevalence of 6.0% of ASDs, 28.0% of ADHD, 7.0% of depression, 25.0% of anxiety disorders, and 7.0% of OCD.
CONCLUSIONS
The prevalence of these neuropsychiatric disorders is higher among patients with DMD or BMD than among the general population, and the presence of these disorders may negatively influence optimal medical management.
Topics: Humans; Muscular Dystrophy, Duchenne; Prevalence; Attention Deficit Disorder with Hyperactivity; Anxiety Disorders
PubMed: 35839922
DOI: 10.1016/j.apmr.2022.05.015 -
Neurotoxicology Jul 2017The purpose of this study was to systematically review, assess, and prioritize factors (including biological, socioeconomic, environmental, psychosocial, comorbid, and... (Review)
Review
The purpose of this study was to systematically review, assess, and prioritize factors (including biological, socioeconomic, environmental, psychosocial, comorbid, and genetic) for the onset and natural progression of Muscular Dystrophy. Comprehensive review of current literature of these factors was carried out in order to provide a basis for policy makers to identify appropriate measures to mitigate the burden of disease in Canada. A three-stage approach to searching for relevant studies was conducted in multiple databases. Using variations of MeSH terms and keywords, Systematic reviews or meta-analyses published in English or French that meet the inclusion criteria were first identified, then searched for relevant observational studies. Two independent reviewers screened abstracts, then qualifying articles, conducted quality assessment, and finally extracted relevant data using the application, DistillerSR. No existing systematic reviews, meta-analyses, or non-genetic observational studies were identified that met the inclusion criteria. A number of existing systematic reviews and observational studies focused on pharmacological or therapeutic interventions, which was beyond the scope of this study. Four genetic observational studies were identified that focused on aspects of disease progression of Duchenne and Becker Muscular Dystrophy. While this systematic review found that certain genetic polymorphisms and mutations may be a factor for Duchenne or Becker Muscular Dystrophy disease progression, further investigation into other genetic factors and environmental factors is still warranted. Much of the current literature focuses on these Muscular Dystrophies, however, other types of Muscular Dystrophy and their associated risk factors have yet to be extensively studied.
Topics: Databases, Bibliographic; Disease Progression; Humans; Muscular Dystrophies; Observational Studies as Topic; Risk Factors
PubMed: 27018093
DOI: 10.1016/j.neuro.2016.03.007 -
Journal of Infection in Developing... Feb 2023Steinert's disease is a rare genetic disorder characterized by progressive myotonia and multi-organ damage. It is associated with respiratory and cardiological... (Review)
Review
INTRODUCTION
Steinert's disease is a rare genetic disorder characterized by progressive myotonia and multi-organ damage. It is associated with respiratory and cardiological complications often leading patients to exitus. These conditions are also traditional risk factors for severe COVID-19. SARS-CoV-2 has affected people with chronic diseases, but the impact on people with Steinert's disease is poorly defined, with only a few reported and described. More data are needed to understand whether this genetic disease is a risk factor for more serious evolution or death in patients with COVID-19.
METHODOLOGY
The study describes two cases of patients with SD and COVID-19 and summarizes available evidence of the clinical outcome of COVID-19 in patients with Steinert's disease, by performing a systematic review of the literature (following PRISMA statements and performing PROSPERO registration).
RESULTS
Overall, 5 cases were retrieved from the literature review, with a median age of 47 years, of whom 4 had advanced SD and unfortunately died. By contrast, the 2 patients from our clinical practice and 1 from literature had a good clinical outcomes. Mortality ranged from 57% (all cases) to 80% (only literature review).
CONCLUSIONS
There is a high mortality rate in patients with both Steinert's disease and COVID-19. It highlights the importance of strengthening prevention strategies, especially vaccination. All SD with SARS-CoV-2 infection/COVID-19 patients should be identified early and treated to avoid complications. It is still unknown which treatment regimen is best to use in those patients. Studies on a greater number of patients are necessary to provide clinicians with further evidence.
Topics: Humans; Middle Aged; Myotonic Dystrophy; COVID-19; SARS-CoV-2
PubMed: 36897899
DOI: 10.3855/jidc.15653 -
Developmental Medicine and Child... Jun 2023To estimate the global prevalence of intellectual developmental disorder (IDD) and the IDD prevalence-genotype association in Becker muscular dystrophy (BMD) or Duchenne... (Meta-Analysis)
Meta-Analysis Review
AIM
To estimate the global prevalence of intellectual developmental disorder (IDD) and the IDD prevalence-genotype association in Becker muscular dystrophy (BMD) or Duchenne muscular dystrophy (DMD) according to the affected isoforms of the DMD gene: Dp427, Dp140, Dp71.
METHOD
Systematic searches in MEDLINE, Scopus, Web of Science, and the Cochrane Library were conducted from inception of each database to March 2022. Observational studies that determined the prevalence of IDD in the population with BMD or DMD were included. Meta-analyses of IDD prevalence and prevalence ratios of the IDD-genotype association were conducted.
RESULTS
Forty-nine studies were included. The prevalence of IDD in BMD was 8.0% (95% confidence interval 5.0-11.0), and in DMD it was 22.0% (18.0-27.0). Meta-analyses of IDD-genotype association showed a deleterious association between IDD and the number of isoforms affected in DMD, with a prevalence ratio = 0.43 (0.28-0.64) and 0.17 (0.09-0.34) for Dp140 /Dp71 versus Dp140 /Dp71 and Dp140 /Dp71 versus Dp140 /Dp71 comparisons respectively. However, in BMD, there was no association for Dp140 /Dp71 versus Dp140 /Dp71 .
INTERPRETATION
There is a high prevalence of IDD in BMD and DMD. Moreover, the number of isoforms affected is strongly and negatively associated with the prevalence of IDD in DMD.
WHAT THIS PAPER ADDS
The global prevalence of intellectual developmental disorder (IDD) was 8% in Becker muscular dystrophy and 22% in Duchenne muscular dystrophy (DMD). The global prevalence of IDD in DMD was 12%, 29%, and 84% in participants with Dp427 /Dp140 /Dp71 , Dp427 /Dp140 /Dp71 , and Dp427 /Dp140 /Dp71 genotypes respectively. In DMD, 12% and 22% of participants had abnormal performance IQ and verbal IQ values respectively.
Topics: Child; Humans; Muscular Dystrophy, Duchenne; Dystrophin; Developmental Disabilities; Prevalence; Intellectual Disability; Protein Isoforms
PubMed: 36440509
DOI: 10.1111/dmcn.15481 -
Therapeutics and Clinical Risk... 2017Duchenne muscular dystrophy is the most frequent lethal genetic disease. Several clinical trials have established both the beneficial effect of steroids in Duchenne... (Review)
Review
Duchenne muscular dystrophy is the most frequent lethal genetic disease. Several clinical trials have established both the beneficial effect of steroids in Duchenne muscular dystrophy and the well-known risk of side effects associated with their daily use. For many years it has been known that steroids associated with ambulation loss lead to obesity and also damage the bone structure resulting in the bone density reduction and increased incidence of bone fractures and fat embolism syndrome, an underdiagnosed complication after fractures. Fat embolism syndrome is characterized by consciousness disturbance, respiratory failure and skin rashes. The use of steroids in Duchenne muscular dystrophy may result in vertebral fractures, even without previous trauma. Approximately 25% of patients with Duchenne muscular dystrophy have a long bone fracture, and 1% to 22% of fractures have a chance to develop fat embolism syndrome. As the patients with Duchenne muscular dystrophy have progressive cardiac and respiratory muscle dysfunction, the fat embolism may be unnoticed clinically and may result in increased risk of death and major complications. Different treatments and prevention measures of fat embolism have been proposed; however, so far, there is no efficient therapy. The prevention, early diagnosis and adequate symptomatic treatment are of paramount importance. The fat embolism syndrome should always be considered in patients with Duchenne muscular dystrophy presenting with fractures, or an unexplained and sudden worsening of respiratory and cardiac symptoms.
PubMed: 29066903
DOI: 10.2147/TCRM.S143317 -
Orphanet Journal of Rare Diseases May 2021Duchenne muscular dystrophy (DMD) is a severe rare progressive inherited neuromuscular disorder, leading to loss of ambulation (LOA) and premature mortality. The... (Review)
Review
BACKGROUND
Duchenne muscular dystrophy (DMD) is a severe rare progressive inherited neuromuscular disorder, leading to loss of ambulation (LOA) and premature mortality. The standard of care for patients with DMD has been treatment with corticosteroids for the past decade; however a synthesis of contemporary data describing the clinical course of DMD is lacking. The objective was to summarize age at key clinical milestones (loss of ambulation, scoliosis, ventilation, cardiomyopathy, and mortality) in the corticosteroid-treatment-era.
METHODS
A systematic review was conducted using MEDLINE and EMBASE. The percentage experiencing key clinical milestones, and the mean or median age at those milestones, was synthesized from studies from North American populations, published between 2007 and 2018.
RESULTS
From 5637 abstracts, 29 studies were included. Estimates of the percentage experiencing key clinical milestones, and age at those milestones, showed heterogeneity. Up to 30% of patients lost ambulation by age 10 years, and up to 90% by 15 years of age. The mean age at scoliosis onset was approximately 14 years. Ventilatory support began from 15 to 18 years, and up to half of patients required ventilation by 20 years of age. Registry-based estimates suggest that 70% had evidence of cardiomyopathy by 15 years and almost all by 20 years of age. Finally, mortality rates up to 16% by age 20 years were reported; among those surviving to adulthood mortality was up to 60% by age 30 years.
CONCLUSIONS
Contemporary natural history studies from North America report that LOA on average occurs in the early teens, need for ventilation and cardiomyopathy in the late teens, and death in the third or fourth decade of life. Variability in rates may be due to differences in study design, treatment with corticosteroids or other disease-modifying agents, variations in clinical practices, and dystrophin mutations. Despite challenges in synthesizing estimates, these findings help characterize disease progression among contemporary North American DMD patients.
Topics: Adolescent; Adrenal Cortex Hormones; Adult; Cardiomyopathies; Child; Disease Progression; Dystrophin; Humans; Muscular Dystrophy, Duchenne; Young Adult
PubMed: 34022943
DOI: 10.1186/s13023-021-01862-w -
Developmental Medicine and Child... Dec 2022To identify the standardized assessment scales for people with muscular dystrophy and investigate the quality/level of evidence of their measurement properties. (Review)
Review
AIM
To identify the standardized assessment scales for people with muscular dystrophy and investigate the quality/level of evidence of their measurement properties.
METHOD
A systematic review of patient-reported outcome measures was conducted on the MEDLINE, Embase, AMED, DiTA, and PsycINFO databases in August 2020. We included psychometric studies that investigated the validity, reliability, and responsiveness of instruments assessing activity and participation for muscular dystrophy of any type (Duchenne, Becker, limb-girdle, facioscapulohumeral, congenital, and myotonic) or age. Two independent reviewers selected the studies, extracted data, and evaluated the instruments' quality and level of evidence following the COnsensus-based Standards for the selection of health status Measurement INstruments (COSMIN) checklist. The study followed the Preferred Reporting Items for Systematic reviews and Meta-Analysis (PRISMA) 2020 guidelines.
RESULTS
The searches identified 6675 references; a total of 46 studies with 28 condition-specific or general instruments were included. The measurement properties of most instruments had sufficient (68.8%) or indeterminate (25.7%) results according to COSMIN. The quality of evidence of the measurement properties was moderate (23.8%) or low (22.6%) according to the Grading of Recommendations Assessment, Development, and Evaluation (GRADE).
INTERPRETATION
There is a lack of high-quality instruments whose psychometric properties are adequately measured. The highest quality instrument is the Muscular Dystrophy Functional Rating Scale. The Motor Function Measure (general instrument), Duchenne Muscular Dystrophy Upper-limb Patient-reported Outcome Measure, North Star Ambulatory Assessment, and Myotonic Dystrophy Type 1 Activity and Participation Scale for Clinical Use (specific) are also recommended.
WHAT THIS PAPER ADDS
There are 28 available instruments for activity and participation of people with muscular dystrophy. The evidence quality is moderate or low because of imprecision and indirectness. The Muscular Dystrophy Functional Rating Scale is the highest quality instrument. The Motor Function Measure is the second most recommended instrument. The Duchenne Muscular Dystrophy Upper-limb Patient-reported Outcome Measure, North Star Ambulatory Assessment, and Myotonic Dystrophy Type 1 Activity and Participation Scale for Clinical Use are also recommended.
Topics: Humans; Muscular Dystrophy, Duchenne; Reproducibility of Results; Myotonic Dystrophy; Psychometrics; Patient Reported Outcome Measures
PubMed: 35862363
DOI: 10.1111/dmcn.15345 -
Health and Quality of Life Outcomes Apr 2022Duchenne muscular dystrophy is a rare, progressive, life-limiting genetic neuromuscular condition that significantly impacts the quality of life of informal caregivers.... (Review)
Review
INTRODUCTION
Duchenne muscular dystrophy is a rare, progressive, life-limiting genetic neuromuscular condition that significantly impacts the quality of life of informal caregivers. Carer quality of life is measured using heterogeneous self-report scales, yet their suitability for Duchenne remains unclear. This review aimed to identify and evaluate the reliability and validity of quality of life instruments in Duchenne carers.
MATERIALS AND METHODS
Systematic searches were conducted in Embase, MEDLINE, CINAHL, PsycINFO, Cochrane Library and Google Scholar. Full research articles reporting data on multiple-item self-report quality of life instruments in informal Duchenne carers were included. Extracted evidence was qualitatively synthesised and evaluated, including risk of bias, against the Consensus-based Standards for the selection of health Measurement Instruments. Duchenne carer collaborators (N = 17) helped rate the instruments' content validity.
RESULTS
Thirty-one articles featuring thirty-two quality of life instruments were included. Content validity was rated as "inconsistent" based on very low quality evidence. For Duchenne carer collaborators, the best instrument was PedsQL Family Impact Module. Only one instrument had evidence for structural validity (rated "unsatisfactory") and measurement invariance (rated "satisfactory"). Instruments received "satisfactory" ratings for internal consistency and mixed ratings for construct validity and responsiveness. There was no evidence for reliability, measurement error, or criterion validity.
DISCUSSION
Instruments used to measure Duchenne carer quality of life have limited and often inconsistent supportive psychometric evidence. Further work must investigate instruments' measurement properties in Duchenne carers and/or the development of new tools. In the interim, we recommend considering the PedsQL Family Impact Module based on Duchenne carer ratings.
Topics: Caregivers; Humans; Muscular Dystrophy, Duchenne; Quality of Life; Reproducibility of Results; Self Report; Surveys and Questionnaires
PubMed: 35366897
DOI: 10.1186/s12955-022-01964-4 -
JAMA Neurology Nov 2016Muscle weakness, the most common symptom of neuromuscular disease, may result from muscle dysfunction or may be caused indirectly by neuronal and neuromuscular junction... (Review)
Review
IMPORTANCE
Muscle weakness, the most common symptom of neuromuscular disease, may result from muscle dysfunction or may be caused indirectly by neuronal and neuromuscular junction abnormalities. To date, more than 780 monogenic neuromuscular diseases, linked to 417 different genes, have been identified in humans. Genome-editing methods, especially the CRISPR (clustered regularly interspaced short palindromic repeats)-Cas9 (CRISPR-associated protein 9) system, hold clinical potential for curing many monogenic disorders, including neuromuscular diseases such as Duchenne muscular dystrophy, spinal muscular atrophy, amyotrophic lateral sclerosis, and myotonic dystrophy type 1.
OBJECTIVES
To provide an overview of genome-editing approaches; to summarize published reports on the feasibility, efficacy, and safety of current genome-editing methods as they relate to the potential correction of monogenic neuromuscular diseases; and to highlight scientific and clinical opportunities and obstacles toward permanent correction of disease-causing mutations responsible for monogenic neuromuscular diseases by genome editing.
EVIDENCE REVIEW
PubMed and Google Scholar were searched for articles published from June 30, 1989, through June 9, 2016, using the following keywords: genome editing, CRISPR-Cas9, neuromuscular disease, Duchenne muscular dystrophy, spinal muscular atrophy, amyotrophic lateral sclerosis, and myotonic dystrophy type 1. The following sources were reviewed: 341 articles describing different approaches to edit mammalian genomes; 330 articles describing CRISPR-Cas9-mediated genome editing in cell culture lines (in vitro) and animal models (in vivo); 16 websites used to generate single-guide RNA; 4 websites for off-target effects; and 382 articles describing viral and nonviral delivery systems. Articles describing neuromuscular diseases, including Duchenne muscular dystrophy, spinal muscular atrophy, amyotrophic lateral sclerosis, and myotonic dystrophy type 1, were also reviewed.
FINDINGS
Multiple proof-of-concept studies reveal the feasibility and efficacy of genome-editing-meditated correction of monogenic neuromuscular diseases in cultured cells and animal models.
CONCLUSIONS AND RELEVANCE
Genome editing is a rapidly evolving technology with enormous translational potential once efficacy, delivery, and safety issues are addressed. The clinical impact of this technology is that genome editing can permanently correct disease-causing mutations and circumvent the hurdles of traditional gene- and cell-based therapies.
Topics: Amyotrophic Lateral Sclerosis; Animals; Clustered Regularly Interspaced Short Palindromic Repeats; Gene Editing; Genetic Therapy; Humans; Muscular Atrophy, Spinal; Muscular Dystrophy, Duchenne; Myotonic Dystrophy
PubMed: 27668807
DOI: 10.1001/jamaneurol.2016.3388 -
Journal of Neuromuscular Diseases 2024Despite advances in the medical management of the disease, respiratory involvement remains a significant source of morbidity and mortality in children and adults with...
BACKGROUND
Despite advances in the medical management of the disease, respiratory involvement remains a significant source of morbidity and mortality in children and adults with Duchenne muscular dystrophy (DMD).
OBJECTIVE
The objective of this systematic literature review was to synthesize and grade published evidence of factors associated with respiratory health and function in DMD.
METHODS
We searched MEDLINE, Embase, and the Cochrane Library for records of studies published from January 1, 2000 (to ensure relevance to current care practices), up until and including December 31, 2022, reporting evidence of prognostic indicators and predictors of disease progression in DMD. The quality of evidence (i.e., very low to high) was assessed using the Grading of Recommendations, Assessment, Development and Evaluations (GRADE) framework.
RESULTS
The bibliographic search strategy resulted in the inclusion of 29 articles. In total, evidence of 10 factors associated with respiratory health and function in patients with DMD was identified: glucocorticoid exposure (high- to very low-quality evidence), DMD mutations (low-quality evidence), DMD genetic modifiers (low-quality evidence), other pharmacological interventions (i.e., ataluren, eteplirsen, idebenone, and tamoxifen) (moderate- to very low-quality evidence), body mass index and weight (low-quality evidence), and functional ability (low-quality evidence).
CONCLUSIONS
In conclusion, we identified a total of 10 factors associated with respiratory health in function in DMD, encompassing both pharmacological therapies, genetic mutations and modifiers, and patient clinical characteristics. Yet, more research is needed to further delineate sources of respiratory heterogeneity, in particular the genotype-phenotype association and the impact of novel DMD therapies in a real-world setting. Our synthesis and grading should be helpful to inform clinical practice and future research of this heavily burdened patient population.
Topics: Adult; Child; Humans; Muscular Dystrophy, Duchenne; Glucocorticoids; Activities of Daily Living; Disease Progression
PubMed: 37980679
DOI: 10.3233/JND-230094