Motor Outcome Measures in Pediatric Patients with Congenital Muscular Dystrophies: A Scoping Review

Round 1

Reviewer 1 Report

 

This article is a review of more than 2000 papers on CMD. The articles were selected and evaluated by PRISMA method. Only 16 articles were correct and important, they were apropriately analysed.

Motor function aspects were analysed. At the end the MFM32 scale proved better than the others (especially HFMS -to which most of as were used). 

What could be more developed:

1.Just at the time of diagnose setting - the level of movement. E.G. there were mentioned some preservation of antigravity muscles, especially on the axial level. And then some joint changes interferring with muscle evaluation.

2.The evaluation was only in one moment of the disease and the rate and character of development was only mentioned and not further evaluation set in some scale.

3.In comparison of various motor functional scales there will be some tests and some fact that could be more developed in discussion.

4.Are some electrophysiological changes responding the development of motor function and the used scales? Some prognostic value - electrophysiology or scales?

Author Response

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Author Response File: Author Response.docx

Reviewer 2 Report

The scoping review of Cavallina et al. presents motor outcome measures in pediatric patients with congenital muscular dystrophies. Although in recent years life expectancy in these patients rose significantly and new diagnostic technologies are broadly available, the outcome measures are still not standardized and heterogeneous. This is reflected by the number of studies included, which was only 16.

The introduction is giving a sufficient background and delineates a research problem. It is clearly divided and in line with the PRISMA guidelines. There is a clear PRISMA workflow diagram provided. Case series were included with various numbers of participants, ranging from 4 to nearly 200. The findings were shown in the tables according to the molecular variants. 

Altogether, the studies are heterogenous and together with heterogeneous outcome measures in a heterogenous disease give space for improvement. In recent years therapies and diagnostics underwent a revolution, in the area of neuromuscular outcome measures still not enough is done.  LoSome studies are based on anamnesis, while others use scales and only several studies are longitudinal. Conclusions are supported by results.

The manuscript is well-written, concise, and presents findings in a clear table form.

Comments:

1. An interesting, although from 2010, summary of outcomes in CMD has been provided here 

 

DOI:https://doi.org/10.1016/j.nmd.2011.04.004

It could be referenced and mentioned in the discussion

2. What items on the scales did contractures affect most and how?

Author Response

Please see the attachment.

Author Response File: Author Response.docx