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Respiratory Medicine Feb 2014This systematic review examined the effect of non-invasive positive pressure ventilation (NIPPV) on patient reported outcomes (PROs) and survival for individuals with or... (Review)
Review
BACKGROUND
This systematic review examined the effect of non-invasive positive pressure ventilation (NIPPV) on patient reported outcomes (PROs) and survival for individuals with or at risk of chronic respiratory failure (CRF).
METHODS
Randomised controlled trials (RCTs) and prospective non-randomised studies in those treated with NIPPV for CRF were identified from electronic databases, reference lists and grey literature. Diagnostic groups included in the review were amyotrophic lateral sclerosis/motor neuron disease (ALS/MND), Duchenne muscular dystrophy (DMD), restrictive thoracic disease (RTD) and obesity hypoventilation syndrome (OHS).
RESULTS
Eighteen studies were included and overall study quality was weak. Those with ALS/MND had improved somnolence and fatigue as well as prolonged survival with NIPPV. For OHS, improvements in somnolence and fatigue, dyspnoea and sleep quality were demonstrated, while for RTD, measures of dyspnoea, sleep quality, physical function and health, mental and emotional health and social function improved. There was insufficient evidence to form conclusions regarding the effect of NIPPV for those with DMD.
CONCLUSIONS
This review has demonstrated that NIPPV influences PROs differently depending on the underlying cause of CRF. These findings may provide assistance to patients and clinicians to determine the relative costs and benefits of NIPPV therapy and also highlight areas in need of further research.
Topics: Amyotrophic Lateral Sclerosis; Chronic Disease; Humans; Muscular Dystrophy, Duchenne; Obesity Hypoventilation Syndrome; Positive-Pressure Respiration; Prospective Studies; Randomized Controlled Trials as Topic; Respiratory Insufficiency; Treatment Outcome
PubMed: 24315469
DOI: 10.1016/j.rmed.2013.11.010 -
Neuropathology : Official Journal of... Feb 2021Brain involvement in myotonic dystrophy type 1 (DM1) is characterized by heterogeneous cognitive, behavioral, and affective symptoms and imaging alterations indicative...
Brain involvement in myotonic dystrophy type 1 (DM1) is characterized by heterogeneous cognitive, behavioral, and affective symptoms and imaging alterations indicative of widespread grey and white matter involvement. The aim of the present study was to systematically review the literature on brain pathology in DM1. We conducted a structured search in EMBASE (index period 1974-2017) and MEDLINE (index period 1887-2017) on December 11, 2017, using free text and index search terms related to myotonic dystrophy type 1 and brain structures or regions. Eligible studies were full-text studies reporting on microscopic brain pathology of DM1 patients without potentially interfering comorbidity. We discussed the findings based on the anatomical region and the nature of the anomaly. Neuropathological findings in DM1 can be classified as follows: (1) protein and nucleotide deposits; (2) changes in neurons and glial cells; and (3) white matter alterations. Most findings are unspecific to DM1 and may occur with physiological aging, albeit to a lesser degree. There are similarities and contrasts with Alzheimer's disease; both show the appearance of neurofibrillary tangles in the limbic system without plaque occurrence. Likewise, there is myelin loss and gliosis, and there are dilated perivascular spaces in the white matter resemblant of cerebral small vessel disease. However, we did not find evidence of lacunar infarction or microbleeding. The various neuropathological findings in DM1 are reflective of the heterogeneous clinical and neuroimaging features of the disease. The strength of conclusions from this study's findings is bounded by limited numbers of participants in studies, methodological constraints, and lack of assessed associations between histopathology and clinical or neuroimaging findings.
Topics: Brain; Gray Matter; Humans; Inclusion Bodies; Myotonic Dystrophy; Neurofibrillary Tangles; Neuroimaging; White Matter
PubMed: 33599033
DOI: 10.1111/neup.12721 -
The Journal of Pediatrics Jan 2019
Topics: Consensus; Delphi Technique; Evidence-Based Medicine; Female; Humans; Male; Muscular Dystrophy, Duchenne; Practice Guidelines as Topic; Time Factors
PubMed: 30579468
DOI: 10.1016/j.jpeds.2018.10.043 -
Neurology Dec 2021Duchenne muscular dystrophy (DMD) is a rare progressive disease that is often diagnosed in early childhood and leads to considerably reduced life expectancy; because of... (Meta-Analysis)
Meta-Analysis
BACKGROUND AND OBJECTIVES
Duchenne muscular dystrophy (DMD) is a rare progressive disease that is often diagnosed in early childhood and leads to considerably reduced life expectancy; because of its rarity, research literature and patient numbers are limited. To fully characterize the natural history, it is crucial to obtain appropriate estimates of the life expectancy and mortality rates of patients with DMD.
METHODS
A systematic review of the published literature on mortality in DMD up to July 2020 was undertaken, specifically focusing on publications in which Kaplan-Meier (KM) survival curves with age as a timescale were presented. These were digitized, and individual patient data (IPD) were reconstructed. The pooled IPD were analyzed with the KM estimator and parametric survival analysis models. Estimates were also stratified by birth cohort.
RESULTS
Of 1,177 articles identified, 14 publications met the inclusion criteria and provided data on 2,283 patients, of whom 1,049 had died. Median life expectancy was 22.0 years (95% confidence interval [CI] 21.2, 22.4). Analyses stratified by 3 time periods in which patients were born showed markedly increased life expectancy in more recent patient populations; patients born after 1990 have a median life expectancy of 28.1 years (95% CI 25.1, 30.3).
DISCUSSION
This article presents a full overview of mortality across the lifetime of a patient with DMD and highlights recent improvements in survival. In the absence of large-scale prospective cohort studies or trials reporting mortality data for patients with DMD, extraction of IPD from the literature provides a viable alternative to estimating life expectancy for this patient population.
Topics: Child, Preschool; Humans; Kaplan-Meier Estimate; Life Expectancy; Muscular Dystrophy, Duchenne; Prospective Studies
PubMed: 34645707
DOI: 10.1212/WNL.0000000000012910 -
Public Health Apr 2021A systematic narrative literature review was undertaken to assess the acceptability of childhood screening interventions to identify factors to consider when planning or...
OBJECTIVES
A systematic narrative literature review was undertaken to assess the acceptability of childhood screening interventions to identify factors to consider when planning or modifying childhood screening programs to maximize participation and uptake.
STUDY DESIGN
This is a systematic narrative literature review.
METHODS
Electronic databases were searched (MEDLINE, EMBASE, PsycINFO via Ovid, CINAHL, and Cochrane Library) to identify primary research studies that assessed screening acceptability. Studies were categorized using an existing theoretical framework of acceptability consisting of seven constructs: affective attitude, burden, ethicality, intervention coherence, opportunity costs, perceived effectiveness, and self-efficacy. A protocol was developed and registered with PROSPERO (registration no. CRD42018099763) RESULTS: The search identified 4529 studies, and 46 studies met the inclusion criteria. Most studies involved neonatal screening. Programs identified included newborn blood spot screening (n = 22), neonatal hearing screening (n = 13), Duchenne muscular dystrophy screening (n = 4), cystic fibrosis screening (n = 3), screening for congenital heart defects (n = 2), and others (n = 2). Most studies assessed more than one construct of acceptability. The most common constructs identified were affective attitude (how a parent feels about the program) and intervention coherence (parental understanding of the program, and/or the potential consequences of a confirmed diagnosis).
CONCLUSIONS
The main acceptability component identified related to parental knowledge and understanding of the screening process, the testing procedure(s), and consent. The emotional impact of childhood screening mostly explored maternal anxiety. Further studies are needed to examine the acceptability of childhood screening across the wider family unit. When planning new (or refining existing) childhood screening programs, it is important to assess acceptability before implementation. This should include assessment of important issues such as information needs, timing of information, and when and where the screening should occur.
Topics: Child; Humans; Infant; Infant, Newborn; Mass Screening; Neonatal Screening; Parents; Patient Acceptance of Health Care
PubMed: 33831694
DOI: 10.1016/j.puhe.2021.02.005 -
International Journal of Molecular... Aug 2023Muscular dystrophy is a heterogenous group of hereditary muscle disorders caused by mutations in the genes responsible for muscle development, and is generally defined... (Review)
Review
Muscular dystrophy is a heterogenous group of hereditary muscle disorders caused by mutations in the genes responsible for muscle development, and is generally defined by a disastrous progression of muscle wasting and massive loss in muscle regeneration. is closely associated with myogenesis, which is governed by various signaling pathways throughout a lifetime and is frequently used as an indicator in muscle research. In this review, an extensive literature search adhering to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines was performed to identify research that examined signaling pathways in living models, while quantifying expression in myogenesis. A total of 247 articles were retrieved from the Web of Science (WoS), PubMed and Scopus databases and were thoroughly examined and evaluated, resulting in 19 articles which met the inclusion criteria. Admittedly, we were only able to discuss the quantification of carried out in research affecting various type of genes and signaling pathways, rather than the expression of itself, due to the massive differences in approach, factor molecules and signaling pathways analyzed across the research. However, we highlighted the thorough evidence for the alteration of the muscle stem cell precursor in multiple signaling pathways described in different living models, with an emphasis on the novel approach that could be taken in manipulating expression itself in dystrophic muscle, towards the discovery of an effective treatment for muscular dystrophy. Therefore, we believe that this could be applied to the potential gap in muscle research that could be filled by tuning the well-established marker expression to improve dystrophic muscle.
Topics: Humans; Muscular Dystrophies; Muscles; Databases, Factual; Muscle Development; Signal Transduction; PAX7 Transcription Factor
PubMed: 37685856
DOI: 10.3390/ijms241713051 -
Neuromuscular Disorders : NMD Dec 2017Infantile or early onset is estimated to occur in around 10% of all facioscapulohumeral dystrophy (FSHD) patients. Although small series of early onset FSHD patients... (Review)
Review
Infantile or early onset is estimated to occur in around 10% of all facioscapulohumeral dystrophy (FSHD) patients. Although small series of early onset FSHD patients have been reported, comprehensive data on the clinical phenotype is missing. We performed a systematic literature search on the clinical features of early onset FSHD comprising a total of 43 articles with individual data on 227 patients. Additional data from four cohorts was provided by the authors. Mean age at reporting was 18.8 years, and 40% of patients were wheelchair-dependent at that age. Half of the patients had systemic features, including hearing loss (40%), retinal abnormalities (37%) and developmental delay (8%). We found an inverse correlation between repeat size and disease severity, similar to adult-onset FSHD. De novo FSHD1 mutations were more prevalent than in adult-onset FSHD. Compared to adult FSHD, our findings indicate that early onset FSHD is overall characterized by a more severe muscle phenotype and a higher prevalence of systemic features. However, similar as in adults, a significant clinical heterogeneity was observed. Based on this, we consider early onset FSHD to be on the severe end of the FSHD disease spectrum. We found natural history studies and treatment studies to be very scarce in early onset FSHD, therefore longitudinal studies are needed to improve prognostication, clinical management and trial-readiness.
Topics: Adult; Age of Onset; Child; Humans; Infant; Muscular Dystrophy, Facioscapulohumeral
PubMed: 29102079
DOI: 10.1016/j.nmd.2017.09.007 -
The Cochrane Database of Systematic... Apr 2007"Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint. It may arise from many... (Review)
Review
BACKGROUND
"Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint. It may arise from many neuromuscular diseases.
OBJECTIVES
To conduct a systematic review of randomised trials of treatment for footdrop resulting from neuromuscular disease.
SEARCH STRATEGY
We searched the Cochrane Neuromuscular Disease Group Trials Register (July 2005), MEDLINE (January 1966 to July 2005), EMBASE (January 1980 to July 2005), AMED (January 1985 to July 2005) and CINAHL databases (January 1982 to July 2005).
SELECTION CRITERIA
Randomised and quasi-randomised trials of physical, orthotic and surgical treatments for footdrop resulting from lower motor neuron or muscle disease and related contractures were included. People with primary joint disease were excluded. Interventions included a 'wait and see' approach, physiotherapy, orthotics, surgery and pharmacological therapy. The primary outcome measure was ability to walk whilst secondary outcome measures included dorsiflexor torque and strength, measures of 'activity' and 'participation' and adverse effects.
DATA COLLECTION AND ANALYSIS
Methodological quality was evaluated by two authors using the van Tulder criteria. Three studies with altogether 139 participants were included in the review. Heterogeneity of the studies precluded pooling the data.
MAIN RESULTS
Early surgery did not significantly affect walking speed in a trial including 20 children with Duchenne muscular dystrophy. After one year, the mean difference (MD) of the 28 feet walking time was 0.00 seconds (95% confidence interval (CI) -0.83 to 0.83) and the MD of the 150 feet walking time was -2.88 seconds, (95% CI -8.18 to 2.42). In a trial with altogether 26 participants with Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy), long-term strength training significantly increased walking speed on a 6 metre timed walk (MD -0.70 seconds, 95% CI -1.17 to -0.23) but not on a 50 metre timed walk (MD -1.9 seconds, 95% CI -4.09 to 0.29). In a trial of a 24-week strength training programme in 28 participants with myotonic dystrophy, there was no significant change in walking speed on either a 6 or 50 metre walk.
AUTHORS' CONCLUSIONS
Using the primary outcome of ability to walk, only one study demonstrated a positive effect and that was an exercise programme for people with Charcot-Marie-Tooth disease. Surgery was not significantly effective in children with Duchenne Muscular Dystrophy. More evidence generated by methodologically sound trials is required.
Topics: Charcot-Marie-Tooth Disease; Child; Exercise Therapy; Gait Disorders, Neurologic; Humans; Male; Muscular Dystrophy, Duchenne; Treatment Outcome; Walking
PubMed: 17443532
DOI: 10.1002/14651858.CD003908.pub2 -
Neurology Aug 2017To systematically review brain imaging studies in myotonic dystrophy type 1 (DM1). (Review)
Review
OBJECTIVE
To systematically review brain imaging studies in myotonic dystrophy type 1 (DM1).
METHODS
We searched Embase (index period 1974-2016) and MEDLINE (index period 1946-2016) for studies in patients with DM1 using MRI, magnetic resonance spectroscopy (MRS), functional MRI (fMRI), CT, ultrasound, PET, or SPECT. From 81 studies, we extracted clinical characteristics, primary outcomes, clinical-genetic correlations, and information on potential risk of bias. Results were summarized and pooled prevalence of imaging abnormalities was calculated, where possible.
RESULTS
In DM1, various imaging changes are widely dispersed throughout the brain, with apparently little anatomical specificity. We found general atrophy and widespread gray matter volume reductions in all 4 cortical lobes, the basal ganglia, and cerebellum. The pooled prevalence of white matter hyperintensities is 70% (95% CI 64-77), compared with 6% (95% CI 3-12) in unaffected controls. DTI shows increased mean diffusivity in all 4 lobes and reduced fractional anisotropy in virtually all major association, projection, and commissural white matter tracts. Functional studies demonstrate reduced glucose uptake and cerebral perfusion in frontal, parietal, and temporal lobes, and abnormal fMRI connectivity patterns that correlate with personality traits. There is significant between-study heterogeneity in terms of imaging methods, which together with the established clinical variability of DM1 may explain divergent results. Longitudinal studies are remarkably scarce.
CONCLUSIONS
DM1 brains show widespread white and gray matter involvement throughout the brain, which is supported by abnormal resting-state network, PET/SPECT, and MRS parameters. Longitudinal studies evaluating spatiotemporal imaging changes are essential.
Topics: Brain; Humans; Myotonic Dystrophy; Neuroimaging
PubMed: 28768849
DOI: 10.1212/WNL.0000000000004300 -
Clinical Pharmacology and Therapeutics Dec 2021Spinal muscular atrophy (SMA) is a rare, progressive neuromuscular disease characterized by loss of motor neurons and muscle atrophy. Untreated infants with type 1 SMA...
Spinal muscular atrophy (SMA) is a rare, progressive neuromuscular disease characterized by loss of motor neurons and muscle atrophy. Untreated infants with type 1 SMA do not achieve major motor milestones, and death from respiratory failure typically occurs before 2 years of age. Individuals with types 2 and 3 SMA exhibit milder phenotypes and have better functional and survival outcomes. Herein, a systematic literature review was conducted to identify factors that influence the prognosis of types 1, 2, and 3 SMA. In untreated infants with type 1 SMA, absence of symptoms at birth, a later symptom onset, and a higher survival of motor neuron 2 (SMN2) copy number are all associated with increased survival. Disease duration, age at treatment initiation, and, to a lesser extent, baseline function were identified as potential treatment-modifying factors for survival, emphasizing that early treatment with disease-modifying therapies (DMT) is essential in type 1 SMA. In patients with types 2 and 3 SMA, factors considered prognostic of changes in motor function were SMN2 copy number, age, and ambulatory status. Individuals aged 6-15 years were particularly vulnerable to developing complications (scoliosis and progressive joint contractures) which negatively influence functional outcomes and may also affect the therapeutic response in patients. Age at the time of treatment initiation emerged as a treatment-effect modifier on the outcome of DMTs. Factors identified in this review should be considered prior to designing or analyzing studies in an SMA population, conducting population matching, or summarizing results from different studies on the treatments for SMA.
Topics: Cholestenones; Humans; Muscular Atrophy, Spinal; Observational Studies as Topic; Oligonucleotides; Prognosis; Randomized Controlled Trials as Topic; Treatment Outcome
PubMed: 33792051
DOI: 10.1002/cpt.2247