Pediatric Neuromuscular Diseases: Current Concepts, Challenges and Opportunities

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Clinical Pediatrics".

Deadline for manuscript submissions: 20 July 2024 | Viewed by 8179

Special Issue Editor


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Guest Editor
Children’s Hospital Srebrnjak, University of Zagreb Medical School, Zagreb, Croatia
Interests: neurogenetics; genetic and acquired neuromuscular disorders; neuroimmunology; neurodegeneration; biomarkers; neurometabolic disorders; epilepsy

Special Issue Information

Dear Colleagues,

Pediatric neuromuscular disorders (NMD) in the era of precision medicine and disease-modifying treatment (DMT) have substantially different primary treatment strategies, courses, and outcomes now. Multidisciplinary team approaches, which are mandatory in the standards of care for paediatric NMD and long-term assessment, are required for facing the new natural history phenotypes, prolonged life expectancy, and disease course complications. The immunogenicity and immunological response to DMT, resistance to the second or the third line immunotherapy for chronic immune-mediated NMDs, and related pathogenic mechanisms open new research targets. New hopes are accompanied by new challenges for the scientific and clinical infrastructures supporting the development and delivery of DMT and demand the continuous education of different specialists’ profiles in organized team support. DMT is (still) not a cure for paediatric patients with genetic NMDs. Early genetic diagnosis (prenatal, neonatal, and preimplantation) using NGS and early treatment in pre-symptomatic phase, including foetus in utero, have the best outcomes. The future is in the next generation of viral vectors, DMT with improved body-wide distribution, control elements limiting expression levels, the fine tuning of translation and protein expression, preventing neurodegeneration and even genotoxicity, including clinical trials (N = 1) enabling a cure for single patients with rare gene mutations, and new NMD treatment modalities and guidelines. 

We invite: neuroscientists, clinicians specialists in pediatric NMD, neuro pediatricians, geneticists, clinical and research immunologists,  pharmaco and health care economists, clinical psychologists, pulmonologists dealing with chronic noninvasive and invasive ventilation, specialists in NMD physiotherapy and rehabilitation, research and clinical oncologists, and foetal and neonatal neurologists to submit their original work or reviews to this Special Issue entitled ‘Pediatric Neuromuscular Diseases: Current Concepts, Challenges and Opportunities’.

Prof. Dr. Nina Barišić
Guest Editor

Manuscript Submission Information

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Keywords

  • neuromuscular disorders (NMD)
  • paediatric
  • genetic NMD
  • chronic demyelinating polyneuropathy
  • juvenile myasthenia gravis
  • ethics
  • health economics
  • next generation sequencing (NGS)
  • diagnosis
  • prenatal
  • foetal
  • disease modifying therapy
  • immunotherapy
  • guidelines

Published Papers (4 papers)

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Research

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14 pages, 625 KiB  
Article
Patients’ Perceptions of Nusinersen Effects According to Their Responder Status
by Charlotte Lilien, Eva Vrscaj, Gita Thapaliya, Nicolas Deconinck, Liesbeth De Waele, Tina Duong, Jana Haberlová, Markéta Kumhera, Geertrui Peirens, Lena Szabo, Valentine Tahon, Whitney J. Tang, Noor Benmhammed, Laurie Médard and Laurent Servais
J. Clin. Med. 2024, 13(12), 3418; https://doi.org/10.3390/jcm13123418 - 11 Jun 2024
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Abstract
Background and Objective: Patients with spinal muscular atrophy (SMA) treated with a disease-modifying therapy (DMT) are often classified as responders or non-responders based on the attainment of a specific improvement threshold on validated functional scales. This categorization may significantly impact treatment reimbursement in [...] Read more.
Background and Objective: Patients with spinal muscular atrophy (SMA) treated with a disease-modifying therapy (DMT) are often classified as responders or non-responders based on the attainment of a specific improvement threshold on validated functional scales. This categorization may significantly impact treatment reimbursement in some countries. The aim of this research is to evaluate the perception of treatments and their benefit by patients considered as responders or non-responders. Methods: In this non-commercial multicenter study, 99 post-symptomatically treated SMA type I–III patients with a median age of 11.2 (0.39–57.4) years at treatment initiation were stratified into three groups based on their treatment outcomes, i.e., those exhibiting clinically significant improvement (N = 41), those with non-clinically significant improvement (N = 18), or those showing no improvement (N = 40). Fifteen months after treatment, the initiation patients or patients’ caregivers were assessed using a patient-rated scoring system based on the Patient Global Impression of Change (PGIC) scale, comprising 22 questions targeting important aspects and tasks in the daily life of patients with SMA. Results: We found no statistical difference in the patient perception of treatment benefits in 17 out of 22 domains across patient groups. Conclusions: Our results suggest that functional motor scales do not recapitulate patients’ and patients’ caregivers’ experience of the effect of nusinersen treatment in SMA. Full article

Review

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29 pages, 38525 KiB  
Review
Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy
by Marija Babić, Maria Banović, Ivana Berečić, Tea Banić, Mirjana Babić Leko, Monika Ulamec, Alisa Junaković, Janja Kopić, Jadranka Sertić, Nina Barišić and Goran Šimić
J. Clin. Med. 2023, 12(15), 5060; https://doi.org/10.3390/jcm12155060 - 1 Aug 2023
Cited by 5 | Viewed by 2080
Abstract
Spinal muscular atrophy (SMA) is a progressive degenerative illness that affects 1 in every 6 to 11,000 live births. This autosomal recessive disorder is caused by homozygous deletion or mutation of the SMN1 gene (survival motor neuron). As a backup, the SMN1 gene [...] Read more.
Spinal muscular atrophy (SMA) is a progressive degenerative illness that affects 1 in every 6 to 11,000 live births. This autosomal recessive disorder is caused by homozygous deletion or mutation of the SMN1 gene (survival motor neuron). As a backup, the SMN1 gene has the SMN2 gene, which produces only 10% of the functional SMN protein. Nusinersen and risdiplam, the first FDA-approved medications, act as SMN2 pre-mRNA splicing modifiers and enhance the quantity of SMN protein produced by this gene. The emergence of new therapies for SMA has increased the demand for good prognostic and pharmacodynamic (response) biomarkers in SMA. This article discusses current molecular diagnostic, prognostic, and pharmacodynamic biomarkers that could be assessed in SMA patients’ body fluids. Although various proteomic, genetic, and epigenetic biomarkers have been explored in SMA patients, more research is needed to uncover new prognostic and pharmacodynamic biomarkers (or a combination of biomarkers). Full article
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18 pages, 1141 KiB  
Review
Real Evidence and Misconceptions about Malignant Hyperthermia in Children: A Narrative Review
by Luciano Frassanito, Fabio Sbaraglia, Alessandra Piersanti, Francesco Vassalli, Monica Lucente, Nicoletta Filetici, Bruno Antonio Zanfini, Stefano Catarci and Gaetano Draisci
J. Clin. Med. 2023, 12(12), 3869; https://doi.org/10.3390/jcm12123869 - 6 Jun 2023
Cited by 2 | Viewed by 3566
Abstract
Malignant hyperthermia is a rare but life-threatening pharmacogenetic disorder triggered by exposure to specific anesthetic agents. Although this occurrence could affect virtually any patient during the perioperative time, the pediatric population is particularly vulnerable, and it has a five-fold higher incidence in children [...] Read more.
Malignant hyperthermia is a rare but life-threatening pharmacogenetic disorder triggered by exposure to specific anesthetic agents. Although this occurrence could affect virtually any patient during the perioperative time, the pediatric population is particularly vulnerable, and it has a five-fold higher incidence in children compared to adults. In the last few decades, synergistic efforts among leading anesthesiology, pediatrics, and neurology associations have produced new evidence concerning the diagnostic pathway, avoiding unnecessary testing and limiting false diagnoses. However, a personalized approach and an effective prevention policy focused on clearly recognizing the high-risk population, defining perioperative trigger-free hospitalization, and rapid activation of supportive therapy should be improved. Based on epidemiological data, many national scientific societies have produced consistent guidelines, but many misconceptions are common among physicians and healthcare workers. This review shall consider all these aspects and summarize the most recent updates. Full article
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Other

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0 pages, 2534 KiB  
Systematic Review
Transient Neonatal Myasthenia Gravis as a Common Complication of a Rare Disease: A Systematic Review
by Jenny Linnea Victoria Lindroos, Marte-Helene Bjørk and Nils Erik Gilhus
J. Clin. Med. 2024, 13(4), 1136; https://doi.org/10.3390/jcm13041136 - 17 Feb 2024
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Abstract
Myasthenia gravis (MG) is a rare autoimmune disease. Transient neonatal myasthenia gravis (TNMG) is caused by pathogenic maternal autoantibodies that cross the placenta and disrupt signaling at the neuromuscular junction. This is a systematic review of this transient immunoglobulin G (IgG)-mediated disease. TNMG [...] Read more.
Myasthenia gravis (MG) is a rare autoimmune disease. Transient neonatal myasthenia gravis (TNMG) is caused by pathogenic maternal autoantibodies that cross the placenta and disrupt signaling at the neuromuscular junction. This is a systematic review of this transient immunoglobulin G (IgG)-mediated disease. TNMG affects 10–20% of children born to mothers with MG. The severity of symptoms ranges from minor feeding difficulties to life-threatening respiratory weakness. Minor symptoms might go unnoticed but can still interfere with breastfeeding. Acetylcholine-esterase inhibitors and antibody-clearing therapies such as immunoglobulins can be used to treat TNMG, but most children do well with observation only. TNMG is self-limiting within weeks as circulating antibodies are naturally cleared from the blood. In rare cases, TNMG is associated with permanent skeletal malformations or permanent myopathy. The mother’s antibodies can also lead to spontaneous abortions. All healthcare professionals meeting pregnant or birthing women with MG or their neonates should be aware of TNMG. TNMG is hard to predict. Reoccurrence is common among siblings. Pre-pregnancy thymectomy and intravenous immunoglobulins during pregnancy reduce the risk. Neonatal fragment crystallizable receptor (FcRn) blocking drugs for MG might reduce TNMG risk. Full article
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