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Dear Colleagues,

Advances in technologies, rehabilitation strategies, outcome measures, and biomarker research have enabled the implementation of more efficient ways to implement multidisciplinary approaches to neuromuscular disorders. Furthermore, with new clinical trials and pharmacological treatments being approved, our community is experiencing both exciting times and new challenges.

We are happy to invite you to submit a paper to the Journal of Clinical Medicine for the Special Issue entitles “Neuromuscular Disorders and Complications: In the Challenge Lies a Solution”. This Special Issue aims to showcase the current progress on neuromuscular care with a particular focus on new ways to approach and study old problems. Both research and review papers are welcome for possible publication in this Special Issue.

I hope that your contributions will inspire our readers to explore this field further.

We are looking forward to hearing from you soon.

Kind regards,

Dr. Giorgia Coratti
Guest Editor

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. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly 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 2600 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
disease-modifying treatments
outcomes of disease progression
bulbar function
biomarkers
respir-atory function
artificial intelligence
phenotypes

Published Papers (2 papers)

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Research

Open AccessArticle

2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants

J. Clin. Med. 2023, 12(5), 1920; https://doi.org/10.3390/jcm12051920 - 28 Feb 2023

Viewed by 637

Abstract

The Revised Hammersmith Scale (RHS) is a 36-item ordinal scale developed using clinical expertise and sound psychometrics to investigate motor function in participants with Spinal Muscular Atrophy (SMA). In this study, we investigate median change in the RHS score up to two years in paediatric SMA 2 and 3 participants and contextualise it to the Hammersmith Functional Motor Scale–Expanded (HFMSE). These change scores were considered by SMA type, motor function, and baseline RHS score. We consider a new transitional group, spanning crawlers, standers, and walkers-with-assistance, and analyse that alongside non-sitters, sitters, and walkers. The transitional group exhibit the most definitive change score trend, with an average 1-year decline of 3 points. In the weakest patients, we are most able to detect positive change in the RHS in the under-5 age group, whereas in the stronger patients, we are most able to detect decline in the RHS in the 8–13 age group. The RHS has a reduced floor effect compared to the HFMSE, although we show that the RHS should be used in conjunction with the RULM for participants scoring less than 20 points on the RHS. The timed items in the RHS have high between-participant variability, so participants with the same RHS total can be differentiated by their timed test items. Full article

(This article belongs to the Special Issue Neuromuscular Disorders and Complications: In the Challenge Lies a Solution)

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Open AccessArticle

A Longitudinal Follow-Up Study of Intellectual Function in Duchenne Muscular Dystrophy over Age: Is It Really Stable?

Daniela P. R. Chieffo

and

J. Clin. Med. 2023, 12(2), 403; https://doi.org/10.3390/jcm12020403 - 04 Jan 2023

Viewed by 937

Abstract

The aim of the study was to retrospectively evaluate the consistency of longitudinal findings on intellectual functioning in DMD boys and their relationship to behavioral and neuropsychiatric difficulties. The cohort included 70 patients of age 3 to 17 years with at least two assessments using the Wechsler scales. CBCL and clinical observation of behavior were also performed. Changes in total intelligence quotient were interpreted as stable or not stable using the reliable-change method. On the first assessment 43/70 had normal quotients, 18 borderline, 5 mild, and 4 moderate intellectual disability, while 27/70 had no behavioral disorders, 17 had abnormal CBCL, and 26 patients had clear signs of attention deficits despite normal CBCL. The remaining seven were untestable. The mean total intelligence quotient change in the cohort was −2.99 points (SD: 12.29). Stable results on TIQ were found in 63% of the paired assessments. A third of the consecutive cognitive assessments showed a difference of more than 11 points with changes up to 42 points. Boys with no behavioral/attention disorder had smaller changes than those with attention (p = 0.007) and behavioral disorders (p = 0.002). Changes in IQ may occur in Duchenne and are likely to be associated with behavioral or attention deficits. Full article

(This article belongs to the Special Issue Neuromuscular Disorders and Complications: In the Challenge Lies a Solution)

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