Intensive physical training in children with heritable connective tissue disorders is feasible and safe: a pilot study 2025 de Koning et al

Abstract

Purpose
This pilot study assessed the feasibility, safety, and acceptability of a physical training program combined with parental meetings for children with heritable connective tissue disorders (HCTD), including Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), and Ehlers-Danlos syndromes (EDS). Secondary, it aimed to explore preliminary observations regarding the program’s impact on individual training goals and physical fitness, including aerobic and anaerobic capacity, strength, agility, pain, fatigue, and disability.

Materials and methods
The intervention comprised functional power training (FPT) and high-intensity interval training (HIIT) conducted three times a week over 12 weeks. Data on feasibility, safety, and acceptability were collected, along with preliminary observations on physical fitness performance.

Results
The intervention was feasible and safe, with no serious adverse events reported. However, acceptability was limited, with a participation rate of 27.8%. Preliminary findings revealed that 80% of participants achieved their training goals, 75% improved their aerobic capacity, and 70% showed gains in strength and agility, alongside reported reductions in pain and fatigue.

Conclusion
This study highlights the potential benefits of tailored physical training for children with HCTD. Despite acceptability challenges, the intervention demonstrated feasibility and safety, providing a foundation for larger-scale effectiveness studies that include systematic feedback mechanisms to enhance participant engagement.

IMPLICATIONS FOR REHABILITATION

• The physical training program for children with heritable connective tissue disorders was feasible, providing a foundation for further research.
  
  
• The intervention was safe, with no serious adverse events, supporting its potential for future studies.
  
  
• Low participation emphasizes the need for strategies to enhance engagement in future interventions.
  
  
• Preliminary observations suggest potential benefits in fitness and symptom reduction, warranting further investigation.
  

Open access

 

How can this study prove safety when the acceptability score is so low? It seems like a non-negligible source of selection bias. Am I over-thinking this?

From the paper:
The participants were recruited from the Amsterdam University Medical Center Expert Center for Marfan Syndrome and Related Disorders in the Netherlands.

In terms of acceptability, ten out of 36 potential participants (27.8%) enrolled in the study. Among the potential participants, 14 did not provide a reason for nonparticipation. The remaining nonparticipating potential participants cited various reasons: moving to a different city (n = 1), excessive study workload (n = 2), changing school (n = 1), parental divorce (n = 2), work/family commitments (n = 1), lack of motivation from the child (n = 3), and excessive sports activities (n = 2).

 

I also don’t understand what RCI is supposed to mean. The describe it as some kind of alternative to p-values, but they also use it as an indicator of clinical significance?

More from the paper:

The change scores were calculated at an individual level using the Reliable Change Index (RCI) according to the method proposed by Jacobson and Truax [Citation53]. The RCI reflects the absolute change in scores pre- and post-intervention that are required to be confident that the observed change was not due to random variations over time (at a probability level of <5% translating in a RCI ≥1.96).

(…)

Post- versus pre-intervention measures of six participants (75%) exhibited a positive tendency (RCI ≥1.56), and four out of eight participants showed significant improvement (RCI ≥1.96), indicating clinically meaningful enhancement in aerobic capacity for these participants (table 3).

(…)

Pain intensity decreased in four of five participants who reported experiencing pain. Three of the five participants reported significantly reduced pain intensity post-intervention, indicating a clinically meaningful reduction in pain. However, one participant reported a significantly increased pain intensity post-intervention.

 

Sometimes it feels like there's this entire industry which should feel a major case of imposter syndrome, yet somehow entirely lacks the self-reflection needed for it. In most jobs if you present something like this, people start muttering and someone starts looking for your replacement. Right away.

But in health care? Nah. Want to make stuff up? Show how up is actually down? Go right ahead. No one seems to care.

"Imagine a world in which we are correct, then act accordingly. Send money."