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Special Issue "Advances in Pediatric Neuromuscular Disorders"

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A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Child Neurology".

Deadline for manuscript submissions: 5 November 2023 | Viewed by 5827

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Special Issue Editors

Dr. Rohan Sharma

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Guest Editor

Department of Neurology, University of Arkansas for Medical Sciences, Little Rock, AR 72762, USA
Interests: neuromuscular disorders; critical care; neuroimmunology

Dr. Aravindhan Veerapandiyan

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Guest Editor

Pediatric Neurology, Arkansas Children’s Hospital, 1 Children’s Way, Little Rock, AR 72202, USA
Interests: neuromuscular disorders; gene therapy; neuroimmunology

Special Issue Information

Dear Colleagues,

In the last decade, therapies for pediatric neuromuscular disorders have made a quantum leap. Diseases such as spinal muscular atrophy and Pompe disease, which were once untreatable, now have multiple therapies that span from enzyme replacement therapy, post-transcription RNA modulars to gene therapy. Life expectancy and quality of life has improved for patients with Duchenne muscular dystrophy and other muscular dystrophies. Newer and safer agents are now available for previously treatable disorders such as myasthenia gravis. Ongoing, multifaceted research is taking place with regard to early diagnosis, treatment and remedies to improve quality of life and outcome for various neuromuscular disorders. Additionally, like everything in medicine, COVID-19 has introduced a new paradigm of neuromuscular diseases. This Special Issue aims to explore the frontier of the evolving field of neuromuscular medicine.

Dr. Rohan Sharma
Dr. Aravindhan Veerapandiyan
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Children is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2400 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

neuromuscular disorders
spinal muscular atrophy
Duchenne Muscular dystrophy
Limb Girdle Muscular dystrophy
Charcot-Marie-Tooth Disease
myotonic dystrophy
plexopathy
neuropathy
neuromuscular junction disorders
myopathy

Published Papers (4 papers)

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Research

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Open AccessArticle

Effectiveness of Extracorporeal Shockwave Therapy on Controlling Spasticity in Cerebral Palsy Patients: A Meta-Analysis of Timing of Outcome Measurement

and

Children 2023, 10(2), 332; https://doi.org/10.3390/children10020332 - 09 Feb 2023

Cited by 1 | Viewed by 1324

Abstract

Extracorporeal shockwave therapy (ESWT) has been suggested as an alternative treatment for reducing spasticity in patients with cerebral palsy (CP). However, the duration of its effect was rarely known. A meta-analysis was performed to investigate the effectiveness of ESWT at controlling spasticity in patients with CP according to the follow-up period. We included studies in which ESWT was used to manage spasticity in patients with CP, and the effect was compared with that in a control group. Finally, three studies were included. In the meta-analysis, spasticity, measured using the modified Ashworth scale (MAS), was significantly reduced after ESWT compared with that in the control group; however, it was sustained for only 1 month. After ESWT, significant increases in passive ankle range of motion (ROM) and plantar surface area in the standing position were observed compared with those in the control group and sustained for up to 3 months. Although spasticity measured using MAS was significantly reduced for only 1 month, improvement in spasticity-associated symptoms, such as ankle ROM and plantar surface area contacting the ground, persisted for over 3 months. ESWT appears to be a useful and effective therapeutic option for managing spasticity in patients with CP. Full article

(This article belongs to the Special Issue Advances in Pediatric Neuromuscular Disorders)

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Open AccessArticle

Respiratory Function in Friedreich’s Ataxia

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Children 2022, 9(9), 1319; https://doi.org/10.3390/children9091319 - 29 Aug 2022

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Abstract

Background: Friedreich’s ataxia is an inherited, rare, progressive disorder of children and young adults. It is characterized by ataxia, loss of gait, scoliosis, cardiomyopathy, dysarthria and dysphagia, with reduced life expectancy. Alterations of respiratory dynamics and parameters are frequently observed. However, in the literature there are few, dated studies with small cohorts. Our study aims to make an objective analysis of the respiratory condition of both early and late stage FRDA patients, looking for correlations with the motor, skeletal, speech and genetic aspects of this condition. Materials and methods: This retrospective observational study is based on the collection of clinical and instrumental respiratory data of 44 subjects between 13 and 51 years attending a tertiary rehabilitation centre in northern Italy. The analysis was carried out using Pearson’s correlation test, ANOVA test and post hoc tests. Results: Data show the presence of a recurrent pattern of respiratory dysfunction of a restrictive type, with reduction in forced vital capacity and of flow and pressure parameters. The severity of the respiratory condition correlates with the disease severity (measured with disease-specific scales), with pneumophonic alterations and with the severity of the thoracic scoliotic curve. Conclusions: Respiratory function is impaired at various degrees in FRDA. The complex condition of inco-ordination and hyposthenia in FRDA affects daytime and night-time respiratory efficiency. We believe that the respiratory deficit and the inefficiency of cough are indeed a clinical problem deserving consideration, especially in the context of the concomitant postural difficulty and the possible presence of dysphagia. Therefore, the rehabilitation project for the subject with FRDA should also consider the respiratory function. Full article

(This article belongs to the Special Issue Advances in Pediatric Neuromuscular Disorders)

Open AccessArticle

Evaluating the Feasibility and Reliability of Remotely Delivering and Scoring the North Star Ambulatory Assessment in Ambulant Patients with Duchenne Muscular Dystrophy

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Children 2022, 9(5), 728; https://doi.org/10.3390/children9050728 - 16 May 2022

Cited by 1 | Viewed by 1406

Abstract

Objective: The North Star Ambulatory Assessment (NSAA) is a validated 17-item functional rating scale and widely used to assess motor function in boys with Duchenne muscular dystrophy (DMD). The SARS-CoV-2 pandemic and subsequent Government ‘lockdown’ resulted in no face-to-face clinic visits hence the motor abilities were not monitored. The aim was to investigate whether the NSAA was feasible and reliable by video assessment. Method: Ten ambulant DMD boys were selected from the electronic hospital records. Two physiotherapists scored the boys’ NSAA independently and the intraclass correlation coefficient was used to assess agreement. The video scores were compared to two previous NSAA in-clinic scores. Results: Mean scores (SD) for clinic visit one were 22.6 (4.19) and clinic visit two 21.8 (5.3). The two physiotherapists video mean scores were 20.6 (5.66) for physiotherapist 1 and 20.6 (6.53) for physiotherapist 2. The intraclass correlation coefficient was 0.98 (95% CI 0.93–1.00) for the total NSAA and 1.00 (95% CI 1.00 to 1.00) for the rise time. The mean decline in score from clinic visit one (−12 months) to video assessment was 2.0 (2.8SD). Conclusion: The results from the study suggest that video NSAA is partially feasible and reliable. Full article

(This article belongs to the Special Issue Advances in Pediatric Neuromuscular Disorders)

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Open AccessCase Report

Enhancing Post-Operative Recovery in Spastic Diplegia through Physical Therapy Rehabilitation following Selective Dorsal Rhizotomy: A Case Report and Thorough Literature Analysis

Jawaria Shahid

Ayesha Kashif

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Muhammad Kashif Shahid

Children 2023, 10(5), 842; https://doi.org/10.3390/children10050842 - 06 May 2023

Viewed by 1275

Abstract

Spasticity is a common issue among children, especially those with bilateral spastic cerebral palsy (CP). Selective dorsal rhizotomy (SDR) is a surgical procedure that is often used to decrease lower limb rigidity, alongside other treatment options such as intrathecal medication, peripheral nerve surgery, and deep brain stimulation (DBS). The objective of these therapies is to improve the standard of living for young individuals. This article intends to explain the motor deficits observed in spastic diplegia and a rehabilitation program using physical therapy after SDR. The information can help with counseling parents about the prognosis and developing a clinical treatment plan. The article presents a case study of a 12-year-old girl who recently underwent L3, L4, and L5 nerve root rhizotomy in the physical therapy department. It highlights the importance of long-term physical therapy follow-up and orthotic usage in the management of spastic diplegia. Full article

(This article belongs to the Special Issue Advances in Pediatric Neuromuscular Disorders)

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