Male Person with dark hair and light blue Shirt giving a talkRESEARCH

New PhD: Chronic pain in adults with OI

New PhD in OI: Experience of Chronic pain in adults with OI
Interview with Rubén Muñoz Cortés

My name is Rubén Muñoz Cortés and I work as a psychologist at Fundación AHUCE. I amMale Person with dark short hair and beard specialized in clinical psychology, and my primary role involves offering psychological therapy to individuals with osteogenesis imperfecta (OI) or other dysplasias, and to their families, if they require support. I have been working at AHUCE since 2015, providing assistance to individuals with OI on various issues. In recent years, the management of chronic pain has acquired a prominent role in therapy work. In addition to direct patient care, Fundación AHUCE actively promotes the development of psychosocial research projects related to OI. My doctoral dissertation originated in this field of study.

Please tell us about your PhD project!

Firstly, I want to express my gratitude to all the people who actively participated in the study and to the organizations that provided invaluable support, such as OIFE, OIF, BBS, among others. A special appreciation goes to Fundación AHUCE and its Director, Julia Piniella, as well as my thesis supervisors, Jose F. Soriano and Vicente Monsalve.

This research aimed to broaden our understanding of the experience of chronic pain in adults with OI. While there has been a growing interest about this topic in recent years, there were very few studies when we started our investigation. Given our own experiences and those of our colleagues, chronic pain appeared to be a significant and pervasive aspect in the lives of individuals with OI, prompting us to consider it a crucial area worthy of exploration.

Our objective was to assess the frequency and characteristics of chronic pain in a diverse sample of adult individuals with OI. We sought to explore its correlations with clinical, sociodemographic, and particularly psychological variables, including cognitive perceptions of pain, coping strategies, personality traits, and its impact on daily activities and overall quality of life. The study was entirely funded by the AHUCE Foundation, thanks to donations from the OI community. Now the article has been published – you can read it here.

Which methods were used?

With the intention of obtaining a substantial sample size, we decided to conduct the assessment through an online survey, available in both Spanish and English, based on various standardized questionnaires. Through the collaboration of several organizations, the survey was widely disseminated. We successfully obtained a sample of over 400 participants from different countries worldwide. Once we collected the data, we were able to employ statistical analyses to establish frequencies and relationships among the various variables.

Why did you choose to focus on pain as a topic?

The defective synthesis of collagen not only affects bones but also involves other parts of the body, such as muscles, tendons, and various organs. This implies that issues stemming from the condition extend beyond bone fragility alone. There are diverse clinical manifestations that can significantly impact the lives of individuals with OI. And based on our experience, chronic pain appeared to be one of them. Furthermore, we observed a notable lack of research on this matter within the context of OI.

Graphic showing frequency of pain

What were your most interesting findings?

Firstly, we looked at what other studies had already indicated: chronic pain, not solely attributed to fractures, was highly prevalent in adults with OI. Pain was a daily experience in over 80% of our sample, aligning it with findings from other researchers. Furthermore, it appeared to be problematic, interfering with daily activities such as household chores, physical activity, and work, among others, and correlating with a decline in both physical and mental health. Despite treatments, pain seemed to persist, as noted by other researchers, and no differences were found between types of OI and severity levels.

Focusing on psychological variables, we confirmed a significant relationship between how individuals perceive pain and its impact. Consistent with similar studies, we observed that a more threatening appraisal of pain was associated with higher intensity and greater interference in daily activities. We consider that this relationship could be bidirectional: undoubtedly, the more intense and debilitating the pain, the more threatening it appears. However, a more catastrophic appraisal of pain can also lead to increased concern and heightened fear, resulting in avoidance of various daily activities.

Furthermore, we found that personality was related to pain. Specifically, individuals with higher scores in the “neuroticism” dimension seemed to experience pain more frequently and intensely. Additionally, in line with the aforementioned findings, these people had a tendency to perceive pain as more threatening. This is not surprising, considering that this personality trait describes individuals prone to worry and more frequent experiences of emotions such as anxiety.

Any surprising findings?

Perhaps the most surprising finding was that there seemed to be no coping strategy for pain that was more effective than another. In reality, the relationship observed between coping style and pain adaptation was limited. One possible reason may lie in the study’s descriptive and cross-sectional design, preventing the establishment of a cause-and-effect relationship between the way pain is coped with and its impact on people’s lives. Another possible underlying cause is that coping strategies were designed to decrease pain. In recent years, psychological therapy has been attempting to focus interventions on facilitating coexistence with pain rather than controlling it, emphasizing the construction of a satisfying life even in the presence of pain.

What is the most important take home message for clinical work?

We believe that this study, along with other publications that have emerged in recent years, contributes to raising awareness among clinicians about the prevalence of chronic pain in OI and the importance of considering it in clinical consultations.

Were patients/patient organizations involved in the planning/implementation? How?

Patient organizations played a crucial role in the study’s development, assisting in disseminating the online survey among participants and promoting visibility for the project and its results. Fundación AHUCE expresses its gratitude to the AHUCE and AMOI associations in Spain, as well as to OIFE, OIF, BBS, Care4brittleBones, and many other organizations that collaborated with us in other countries.

What are you currently doing? Future plans involving OI research?

I continue to provide psychological support to individuals with OI or other dysplasias, and their families upon request. Simultaneously, we are launching a new research project aimed at assessing the effectiveness of a group psychological therapy for adapting to chronic pain in adults with low-prevalence bone dysplasias. We look forward to sharing more information shortly.

Group of People wearing festive clothing
From PhD seremony

In your opinion, what are the biggest knowledge gaps in OI?

There are many research fields that fall outside my area of expertise, and I cannot confidently identify neglected topics within them. However, from my professional perspective, there are very few studies addressing psychosocial aspects of the pathology. For instance, we have limited knowledge about the overprotection experienced by children with OI from their surroundings and its consequences for their future. Additionally, there is a lack of understanding regarding how OI interferes with the attainment and development of employment.

Any messages for the readers of OIFE Magazine?

I would like to thank you for taking the time to read this interview. If you have any questions about the chronic pain research in OI, feel free to reach out to me via email at We hope to share more information with you in the near future.

Watch Ruben’s talk on YouTube!

The topic was also covered in Ruben’s talk at OIFE’s Topical Meeting in Stockholm which you can watch below:

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