In 2023, the ARRE Foundation received a Patient-Centered Outcomes Research Institute (PCORI) Eugene Washington Engagement Award to support a project to better understand family research priorities as we prepare our community for future patient-centered comparative clinical effectiveness research.
This work was co-led by the ARRE Foundation and researchers from Kennedy Krieger Institute, with additional collaboration with other researchers, doctors, and ASXL parents. This summary reports on the outcomes of this project, which took place from January 2024-March 2025.
This project update includes the written summary below and a 17-minute video update from project leads Amanda Johnson (ARRE Foundation) and Natasha Ludwig, PhD (Kennedy Krieger Institute and Johns Hopkins School of Medicine).
Published: August 2025
ASXL-related disorders (Bohring-Opitz, Shashi-Pena, and Bainbridge-Ropers Syndromes) are rare conditions with complex medical, developmental, and behavioral challenges. Because there is so much that is still unknown, families play a crucial role in identifying which research questions matter most. This is a critical part of being ready for future clinical trials to ensure that when there is a drug or treatment to test, we are measuring the success of that treatment on its ability to change something that is meaningful to families.
An ARRE Foundation survey with ASXL families in 2022 revealed three primary areas of priority (205 respondents):
- Neurodevelopment (cognition, communication, mental health)
- Gastrointestinal issues (feeding, digestion, and related medical problems)
- Behavioral challenges (understanding and managing difficult behaviors and their impact on families)
This earlier work served as the foundation for further defining and prioritizing research questions for ASXL-related disorders through this project.
This project sought to further understand each of the three priority areas (neurodevelopment, gastrointestinal issues, behavior). The primary goals of the project were:
- Build community engagement in research process (demonstrate the value of the family voice in research)
- Generate and prioritize research questions in each of the three priority areas
The project was co-led by Amanda Johnson (ARRE Foundation) and Natasha Ludwig, PhD (Kennedy Krieger Institute) with support from clinicial experts from Boston Children’s Hospital and UCLA. The project was guided by a steering committee called the Topic Group Team that included ASXL parents (two from each ASXL-related disorder), doctors, researchers, and other experts. This group first designed and led focus groups that were conducted at the 2024 ASXL Family Conference, and then supported the development of research questions using focus group findings.
Diagram of how the ARRE Foundation engaged multiple stakeholders in the ASXL community to define and prioritize research priorities
40 parents and caregivers participated in 15 in-depth focus groups at the 2024 ASXL Family Conference on the topics of neurodevelopment, gastrointestinal concerns, and behavioral concerns to share their experiences.
A summary of findings from the focus groups include:
Neurodevelopment
- Development in ASXL-related disorders often follows an atypical or unusual path
- Current assessments and measurements do not fully capture children’s abilities and challenges
- Emotional and behavioral regulation is a major concern
- Families highlighted the need for more attention to mental health
Gastrointestinal (GI) issues
- Feeding and mealtime challenges are common and stressful for families
- Children often have difficulty communicating discomfort or GI symptoms
- Parents need better management strategies and interventions
- Healthcare experiences around GI issues are inconsistent and often inadequate
Behavior
- Families observe a wide range of problem behaviors, some very severe
- There is a need for better assessment and treatment approaches for these behaviors
- Families suspect that pain or other medical issues may drive certain behaviors
- Behavioral challenges affect not just the child, but the whole family’s well-being
Building on these discussions, the steering committee supported the development research questions in these three priority areas. We then asked the broader ASXL community to rank them in an online survey (February-March 2025). Over 340 people responded to the survey. The highest priorities included:
- Finding the most effective treatments to support cognitive, emotional, and behavioral functioning
- Understanding how development changes across the lifespan
- Exploring the link between gastrointestinal and neurological health
- Clarifying whether pain or other medical issues drive challenging behaviors
- Identifying supports for families, siblings, and adults with ASXL-related disorders
This project showed the power of combining family voices with research expertise. The findings will help shape ARRE Foundation programs, guide future research funding, and inform clinical studies. Most importantly, they ensure that the questions being asked truly reflect what matters to families.
We are deeply grateful to the ASXL community, our research partners, and PCORI for making this work possible.
Research reported in this presentation was funded through a Patient-Centered Outcomes Research Institute® (PCORI®) Award (EASCS-32229). The statements presented in this presentation are solely the responsibility of the authors and do not necessarily represent the views of the PCORI®.
The following resources have additional information about this project and related topics:
The information presented here is for educational purposes only. This information is not medical advice and should not be treated as such. You should always talk to your or your family member’s health care professionals for diagnosis and treatment, including information regarding which drugs or treatment may be appropriate for you or your family member. We do not represent or warrant that any particular treatment is safe, appropriate or effective for you or your family member. In the event of a medical emergency, you should contact your doctor immediately or call your local emergency service.
