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The Clinical Neuropsychologist Mar 2024The neurocognitive aspects of DMD have received less attention than the physiological sequalae. This study conducted a systematic review and meta-analysis of available... (Review)
Review
The neurocognitive aspects of DMD have received less attention than the physiological sequalae. This study conducted a systematic review and meta-analysis of available literature on the neurocognitive profile of children and young people with DMD. Five databases (EMBASE, Medline, PsycInfo, Scopus and Web of Science) and the grey literature was searched on 27 January 2023. Eligible articles were available in English and reported neurocognitive outcomes. Neurocognitive domains reported in a comparable way across a minimum of three studies were included. The neurocognitive domains of Full-Scale IQ (FSIQ), Verbal IQ (VIQ), Performance IQ (PIQ) and Working memory (WMI) derived from Wechsler scales and receptive vocabulary ability derived from the Peabody Picture Verbal Test (PPVT) were included. A single mean meta-analysis was completed. Relevant data was extracted and presented for 38 eligible studies; 2 of which are from grey literature. Results suggest children with DMD perform around 1SD below non-clinical norms for FSIQ, PIQ, VIQ and WMI. Unlike VIQ, scores derived from the PPVT were within the non-clinical norms. Studies were of moderate - high quality, there was significant heterogeneity and no publication bias. A systematic review of working memory has not previously been completed, it appears that children with DMD perform around 1SD below the mean, like FSIQ, PIQVIQ and WMI. The PPVT is a measure of receptive verbal ability and caution is recommended around the interchangeability of PPVT scores and the wider construct of verbal intelligence.
PubMed: 38509463
DOI: 10.1080/13854046.2024.2324500 -
Omega Jul 2023Understanding the perceptions and experiences related to the end of life (EoL) of boys and men with Duchenne muscular dystrophy from their own and/or family perspective...
End of Life in Boys and Young Men With Duchenne Muscular Dystrophy - The Perspective of Dying Men and Their Families: A Systematic Review and Thematic Synthesis of Qualitative Evidence.
Understanding the perceptions and experiences related to the end of life (EoL) of boys and men with Duchenne muscular dystrophy from their own and/or family perspective is limited based on the available qualitative empirical studies. This systematic review was done with a thematic synthesis of qualitative evidence according to the PRISMA Statement Guidelines and the SPIDER search tool. The review included empirical, qualitative, and relevant full-text studies published in 2000-2023 in the EBSCO Discovery Service, ISI Web of Science, Scopus, PubMed, and ProQuest databases. From o total of eight included qualitative studies, four main key themes were identified: "Being a parent/caregiver" - psychosocial aspects, needs, and experiences; "Communication about EoL with healthcare and other professionals" - positive experiences and personal shortcomings; "Discussions about…" - the issue of EoL, dying and death; and "End of life" - end-of-life care, planning and the need for palliative care.
PubMed: 37408104
DOI: 10.1177/00302228231186358 -
Frontiers in Cellular Neuroscience 2023Limb-girdle muscular dystrophies (LGMD) constitute a heterogeneous group of neuromuscular disorders in which there are alterations in proteins responsible for the... (Review)
Review
Limb-girdle muscular dystrophies (LGMD) constitute a heterogeneous group of neuromuscular disorders in which there are alterations in proteins responsible for the preservation of muscle architecture and function, leading to proximal and progressive muscle weakness. There is, however, significant phenotypic and genotypic variation, as well as difficulty in establishing biomarkers that help to define pathogenic mechanisms and assess disease severity and progression. In this field, there is special attention to microRNAs, small non-coding RNA molecules related to the regulation of gene expression and, consequently, the production of proteins. Thus, this research aimed to verify the correlation between the expression of microRNAs and the severity, progression, and therapeutic response of LGMD animal models. A search was carried out in the PubMed, Embase, Scopus, ScienceDirect, Cochrane, and SciELO databases, with articles in English and without a time limit. The PRISMA 2020 checklist was used, and the protocol of this review was submitted to PROSPERO. The bibliographic survey of the 434 records found that 5 original articles met the inclusion criteria. The studies explored myomicroRNAs or miRNA panels with gene expression analysis. The analysis demonstrates that miR-1, 133a, and 206 are differentially expressed in serum and muscle. They change according to the degree of inflammation, fibrosis, muscle regeneration, and progression of the dystrophic process. MicroRNAs are up-regulated in dystrophic muscles, which are reversed after treatment in a dose-dependent manner. The present study inferred that miRs are essential in severity, progression, and therapeutic response in LGMD models and may be a useful biomarker in clinical research and prognosis. However, the practical application of these findings should be further explored.
PubMed: 38130868
DOI: 10.3389/fncel.2023.1233181 -
Pediatric Neurology Apr 2024To systematically evaluate the diagnostic accuracy of the creatine kinase isoenzyme-MM (CK-MM) test in newborn screening for Duchenne muscular dystrophy (DMD). (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
To systematically evaluate the diagnostic accuracy of the creatine kinase isoenzyme-MM (CK-MM) test in newborn screening for Duchenne muscular dystrophy (DMD).
METHODS
A comprehensive literature search was conducted up to October 31, 2022, in PubMed, Embase, Cochrane Library, Web of Science, and Scopus Database. To evaluate the diagnostic value, the sensitivity (SEN), specificity (SPE), positive likelihood ratio (PLR), negative likelihood ratio (NLR), diagnostic odds ratio (DOR), area under the curve (AUC), and Q∗ index were pooled. Threshold effect followed by subgroup analysis and meta-regression were performed to explore the source of heterogeneity. Sensitivity analysis was used to verify the robustness of the findings.
RESULTS
A total seven studies with 248,853 newborns was included in our meta-analysis. The pooled SEN and SPE were 1.00 (95% confidence interval [CI]: 0.89∼1.00) and 1.00 (95% CI: 1.00 to 1.00), respectively; the PLR and NLR were 1004.59 (95% CI: 251.37∼4014.91) and 0.13 (95% CI: 0.05∼0.34), respectively; the DOR was 877.96 (95% CI: 983.24∼78,366.32); the AUC and Q index were 0.8683 and 0.9326, respectively. Sensitivity analysis showed that two studies had an impact on the pooled results and mainly contributed to the heterogeneity.
CONCLUSIONS
CK-MM test demonstrated high accuracy in newborn screening for DMD and may be a valuable alternative in the early diagnosis of the disease followed by confirmatory genetic testing.
Topics: Humans; Infant, Newborn; Muscular Dystrophy, Duchenne; Neonatal Screening; Isoenzymes; Sensitivity and Specificity; Creatine Kinase
PubMed: 38350306
DOI: 10.1016/j.pediatrneurol.2024.01.010 -
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 -
Journal of Clinical Neuromuscular... Dec 2023As the clinical course of autosomal recessive limb-girdle muscular dystrophy (LGMDR) is highly variable, this study characterized the frequency of loss of ambulation...
OBJECTIVES
As the clinical course of autosomal recessive limb-girdle muscular dystrophy (LGMDR) is highly variable, this study characterized the frequency of loss of ambulation (LOA) among patients by subtype (LGMDR1, LGMDR2, LGMDR3-6, LGMDR9, LGMDR12) and progression to cardiac and respiratory involvement among those with and without LOA.
METHODS
Systematic literature review.
RESULTS
From 2929 abstracts screened, 418 patients were identified with ambulatory status data (LOA: 265 [63.4%]). Cardiac and/or respiratory function was reported for 142 patients (34.0%; all with LOA). Among these, respiratory involvement was most frequent in LGMDR3-6 (74.1%; mean [SD] age 23.9 [11.0] years) and cardiac in LGMDR9 (73.3%; mean [SD] age 23.7 [17.7] years). Involvement was less common in patients without LOA except in LGMDR9 (71.4% respiratory and 52.4% cardiac).
CONCLUSIONS
This study described the co-occurrence of LOA, cardiac, and respiratory involvement in LGMDR and provides greater understanding of the clinical progression of LGMDR.
Topics: Humans; Young Adult; Adult; Muscle, Skeletal; Muscular Dystrophies, Limb-Girdle; Disease Progression
PubMed: 37962193
DOI: 10.1097/CND.0000000000000461 -
Journal of Neuromuscular Diseases 2024Facial weakness is a key feature of facioscapulohumeral muscular dystrophy (FSHD) and may lead to altered facial expression and subsequent psychosocial impairment. There...
BACKGROUND
Facial weakness is a key feature of facioscapulohumeral muscular dystrophy (FSHD) and may lead to altered facial expression and subsequent psychosocial impairment. There is no cure and supportive treatments focus on optimizing physical fitness and compensation of functional disabilities.
OBJECTIVE
We hypothesize that symptomatic treatment options and psychosocial interventions for other neurological diseases with altered facial expression could be applicable to FSHD. Therefore, the aim of this review is to collect symptomatic treatment approaches that target facial muscle function and psychosocial interventions in various neurological diseases with altered facial expression in order to discuss the applicability to FSHD.
METHODS
A systematic search was performed. Selected studies had to include FSHD, Bell's palsy, Moebius syndrome, myotonic dystrophy type 1, or Parkinson's disease and treatment options which target altered facial expression. Data was extracted for study and patients' characteristics, outcome assessment tools, treatment, outcome of facial expression and or psychosocial functioning.
RESULTS
Forty studies met the inclusion criteria, of which only three studies included FSHD patients exclusively. Most, twenty-one, studies were performed in patients with Bell's palsy. Studies included twelve different therapy categories and results were assessed with different outcomes measures.
CONCLUSIONS
Five therapy categories were considered applicable to FSHD: training of (non-verbal) communication compensation strategies, speech training, physical therapy, conference attendance, and smile restoration surgery. Further research is needed to establish the effect of these therapies in FSHD. We recommend to include outcome measures in these studies that cover at least cosmetic, functional, communication, and quality of life domains.
Topics: Muscular Dystrophy, Facioscapulohumeral; Humans; Facial Expression; Facial Muscles; Bell Palsy
PubMed: 38517799
DOI: 10.3233/JND-230213 -
Neurology Jun 2024This practice guideline provides updated evidence-based conclusions and recommendations regarding the effects of antiseizure medications (ASMs) and folic acid...
This practice guideline provides updated evidence-based conclusions and recommendations regarding the effects of antiseizure medications (ASMs) and folic acid supplementation on the prevalence of major congenital malformations (MCMs), adverse perinatal outcomes, and neurodevelopmental outcomes in children born to people with epilepsy of childbearing potential (PWECP). A multidisciplinary panel conducted a systematic review and developed practice recommendations following the process outlined in the 2017 edition of the American Academy of Neurology Clinical Practice Guideline Process Manual. The systematic review includes studies through August 2022. Recommendations are supported by structured rationales that integrate evidence from the systematic review, related evidence, principles of care, and inferences from evidence. The following are some of the major recommendations. When treating PWECP, clinicians should recommend ASMs and doses that optimize both seizure control and fetal outcomes should pregnancy occur, at the earliest possible opportunity preconceptionally. Clinicians must minimize the occurrence of convulsive seizures in PWECP during pregnancy to minimize potential risks to the birth parent and to the fetus. Once a PWECP is already pregnant, clinicians should exercise caution in attempting to remove or replace an ASM that is effective in controlling generalized tonic-clonic or focal-to-bilateral tonic-clonic seizures. Clinicians must consider using lamotrigine, levetiracetam, or oxcarbazepine in PWECP when appropriate based on the patient's epilepsy syndrome, likelihood of achieving seizure control, and comorbidities, to minimize the risk of MCMs. Clinicians must avoid the use of valproic acid in PWECP to minimize the risk of MCMs or neural tube defects (NTDs), if clinically feasible. Clinicians should avoid the use of valproic acid or topiramate in PWECP to minimize the risk of offspring being born small for gestational age, if clinically feasible. To reduce the risk of poor neurodevelopmental outcomes, including autism spectrum disorder and lower IQ, in children born to PWECP, clinicians must avoid the use of valproic acid in PWECP, if clinically feasible. Clinicians should prescribe at least 0.4 mg of folic acid supplementation daily preconceptionally and during pregnancy to any PWECP treated with an ASM to decrease the risk of NTDs and possibly improve neurodevelopmental outcomes in the offspring.
Topics: Humans; Anticonvulsants; Pregnancy; Female; Epilepsy; Pregnancy Complications; Prenatal Exposure Delayed Effects; Neurodevelopmental Disorders; Abnormalities, Drug-Induced; Teratogenesis; Infant, Newborn
PubMed: 38748979
DOI: 10.1212/WNL.0000000000209279 -
International Journal of Molecular... May 2024Inherited muscular diseases (MDs) are genetic degenerative disorders typically caused by mutations in a single gene that affect striated muscle and result in progressive... (Review)
Review
Inherited muscular diseases (MDs) are genetic degenerative disorders typically caused by mutations in a single gene that affect striated muscle and result in progressive weakness and wasting in affected individuals. Cardiac muscle can also be involved with some variability that depends on the genetic basis of the MD (Muscular Dystrophy) phenotype. Heart involvement can manifest with two main clinical pictures: left ventricular systolic dysfunction with evolution towards dilated cardiomyopathy and refractory heart failure, or the presence of conduction system defects and serious life-threatening ventricular arrhythmias. The two pictures can coexist. In these cases, heart transplantation (HTx) is considered the most appropriate option in patients who are not responders to the optimized standard therapeutic protocols. However, cardiac transplant is still considered a relative contraindication in patients with inherited muscle disorders and end-stage cardiomyopathies. High operative risk related to muscle impairment and potential graft involvement secondary to the underlying myopathy have been the two main reasons implicated in the generalized reluctance to consider cardiac transplant as a viable option. We report an overview of cardiac involvement in MDs and its possible association with the underlying molecular defect, as well as a systematic review of HTx outcomes in patients with MD-related end-stage dilated cardiomyopathy, published so far in the literature.
Topics: Humans; Cardiomyopathy, Dilated; Heart Transplantation; Muscular Dystrophies
PubMed: 38791328
DOI: 10.3390/ijms25105289 -
European Journal of Paediatric... Jan 2024We report a non-ambulatory 13-year-old boy with Duchenne muscular dystrophy who experienced severe acute respiratory distress syndrome and cerebral fat embolism...
We report a non-ambulatory 13-year-old boy with Duchenne muscular dystrophy who experienced severe acute respiratory distress syndrome and cerebral fat embolism following elective soft tissue surgery. Post-surgery radiological examination revealed bilateral femoral fractures and marked osteopenia that were believed to have caused disseminated pulmonary and cerebral fat embolism. The patient had never been on glucocorticoid treatment. Five months post-surgery, he remained in a state of minimal consciousness. A literature review was performed and eleven publications included, providing case reports of a total number of 23 patients with Duchenne muscular dystrophy with fat embolism syndrome. The most common causes were falls from the wheelchair that predominantly resulted in femoral fractures. Median age at the event was around 14 years. Seven patients succumbed to complications of fat embolism. No event was described in the context of surgery. We want to raise awareness that spontaneous unnoticed fractures may occur especially in adolescents with DMD from traumatic injury of large bones and also during elective surgery with a high risk of causing fat embolism with severe sequelae.
Topics: Male; Adolescent; Humans; Muscular Dystrophy, Duchenne; Femoral Fractures; Embolism, Fat
PubMed: 38096597
DOI: 10.1016/j.ejpn.2023.11.012