Physical Activity, Exercise, and Sports in Individuals with Skeletal Dysplasia: What Is Known about Their Benefits?

Round 1

Reviewer 1 Report

With this systematic review (SR) the authors highlighted the scarcity in the literature of experimental studies with adapted physical exercise implemented in the population with skeletal dysplasia. Consequently, the authors state that more research is needed to promote adapted physical activity and an inclusive participation of people with skeletal dysplasia in sports practices.

The SR was carried out correctly following the appropriate methods and strategies.

I have no comments to make.

Author Response

Thank you very much for the comments and appreciations to the manuscript.

Author Response File: Author Response.pdf

Reviewer 2 Report

After cerfull examination of presented article and according to the previous review process this work shows the lack of knowledge about the physical activity of people with skeletal  dysplasia (SD). The present study aimed to characterize the physical fitness, investi-gate the benefits of physical activity, exercise, or sports programs. According to the jurnal regulations i think that this work can be proceeded with the publication process after few changes. Please add mor information about the benefits of any forme of Physical activity on mental healt of people with SD. Furthermore add information about the biochemical modulation of immune system that occurs in the body after activity that will be beneficial for the people with SD. Ad a summary of all observations in table with the comments below. 

Author Response

Thank you very much for the review comments and suggestions. We believe that they add quality to the manuscript, having been accepted and added the following information:

“We also highlight the fact that is a population with a prevalence of mental health disorders, namely with symptoms of anxiety and depression, which affects their quality of life. Anecdotal evidence has presented a higher rate of suicide prevalence in adults with SD comparing with the general population. Although we did not find any intervention studies in the population with SD, physical activity, exercise or sport, they have shown to promote mental health of individuals with other types of comorbidities, namely disabilities and patients with cancer. At the same time, the practice of physical activity, exercise or sport is associated with the anti-inflammatory process, protecting central functions, and delaying cognitive decline and premature aging, which may be promising for individuals with SD.” (lines 327-335).

Author Response File: Author Response.pdf

Reviewer 3 Report

Presented study aimed to characterize physical fitness, investigate the benefits of physical activity, exercise, or sports programs, identify the adapted physical activities that can be prescribed and the most common and effective structural characteristics and guidelines for the evaluation and prescription of individuals with skeletal dysplasia.

The results highlighted a clear scarcity in the literature of experimental studies with adapted physical exercise implemented in the skeletal dysplasia population,  which represents a clear knowledge gap.

All factors are described clearly. However, I have several suggestions:
 

Introduction
1. Line 41-44:

Skeletal dysplasia (SD) occurs due to genetic mutations. It is characterized by a general structural abnormality in the growth and shape of bone, cartilage, and dentin, namely in the genes that encode proteins - I suggest mentioning briefly the topic of genetics in SD
e.g., DOI: 10.1146/annurev-genom-090314-045904

2. Line 63-68:
However, there is a lack of knowledge about adapted physical activity, exercise, or sport in people with SD, which reinforces the need to verify whether regular practice leads to the beneficial effects observed in the general population beyond the occurrence of medical complications. - Please provide the citation.

Material and Methods

3. Line 77:

- The review was carried out in accordance with the PRISMA protocol - 

I suggest adding an explanation of the abbreviation (The Preferred Reporting Items for Systematic reviews and Meta-Analyses).

4. Table 1:
“exercise” OR sport* OR “training - please explain the * mark

5. Line 104: Eligibility Criteria
The manuscript includes 2 review papers. Add what type of work was included in the research.

Results

6. Line 118:
3.1. Subsection - is this title necessary?

Conclusions

7. Overall:

In the conclusion, it is worth expanding the results of the review of the analyzed works. The authors' observations are accurate but there is no summary resulting from the analysis.

In general, the work is very interesting and can make a significant contribution to literature.
I hope my suggestions will help improve this work.

Author Response

Response to REVIEWER 3

Presented study aimed to characterize physical fitness, investigate the benefits of physical activity, exercise, or sports programs, identify the adapted physical activities that can be prescribed and the most common and effective structural characteristics and guidelines for the evaluation and prescription of individuals with skeletal dysplasia.

The results highlighted a clear scarcity in the literature of experimental studies with adapted physical exercise implemented in the skeletal dysplasia population, which represents a clear knowledge gap.

All factors are described clearly. However, I have several suggestions:
Response: Thank you very much for the comments and suggestions of the reviewer. We believe that the manuscript has been improved with the help of reviewers.

Introduction
1. Line 41-44:

Skeletal dysplasia (SD) occurs due to genetic mutations. It is characterized by a general structural abnormality in the growth and shape of bone, cartilage, and dentin, namely in the genes that encode proteins - I suggest briefly mentioning the topic of genetics in SD
e.g., DOI: 10.1146/annurev-genom-090314-045904

Response: Thank you very much for sending the reference. This suggestion has been addressed.

2. Line 63-68:
   However, there is a lack of knowledge about adapted physical activity, exercise, or sport in people with SD, which reinforces the need to verify whether regular practice leads to the beneficial effects observed in the general population beyond the occurrence of medical complications. - Please provide the citation.

Response: The missing reference has been inserted. Our apologies for the mistake.

Material and Methods

3. Line 77:

- The review was carried out in accordance with the PRISMA protocol - 

I suggest adding an explanation of the abbreviation (The Preferred Reporting Items for Systematic reviews and Meta-Analyses).

Response: The explanation of the abbreviation was inserted. Thanks for the suggestion.

4. Table 1:
   “exercise” OR sport* OR “training - please explain the * mark

Response: The * mark is used to search with words derived from the one marked with an * without writing them (in this case sports)

5. Line 104: Eligibility Criteria
   The manuscript includes 2 review papers. Add what type of work was included in the research.

Response: As we mentioned in lines 81-90, namely when describing a PICOS strategy, our search includes any type of studies (intervention studies, randomized controlled trials (RCT's) or not RCT's, pilot studies, cross-sectional or review). For the discussion of the review studies, we approach their general conclusions.

Results

6. Line 118:
   3.1. Subsection - is this title necessary?

Response: Thank you very much for the comment. It was a mistake. Corrected.

Conclusions

7. Overall:

In the conclusion, it is worth expanding the results of the review of the analyzed works. The authors' observations are accurate but there is no summary resulting from the analysis.

Response: We appreciate your suggestion, which we fully agree with you. A paragraph was added that summarizes the main conclusions of the manuscript:

“When assessing the identified documents, we can conclude that there is no consensus on the practice of physical activity by individuals with SD, and that the existence of barriers at various levels can negatively influence the practice. These individuals have unfavourable anthropometric values, as well as hemodynamic values. Apparently, pulmonary and exercise capacity are reduced, as well as neuromuscular and balance capacity. They also have a high prevalence of neurological symptoms, pain, and sometimes hearing, voice and vision deficits.” (lines 376-381)

In general, the work is very interesting and can make a significant contribution to literature.
I hope my suggestions will help improve this work.

Response: Thank you very much for the suggestions. We believe they helped improve the quality of the manuscript.

Author Response File: Author Response.pdf

Round 2

Reviewer 3 Report

Congratulations to the Authors of the corrections made. The work meets the criteria for publication in the Sustainability journal in its current form. I hope that my comments have been helpful to the authors.