2025 SETBP1 Community Survey Results Now Available

We’re excited to share the results of our 2025 SETBP1 Community Survey! 💙

This is the 2nd year SETBP1 Society invites parents, caregivers, and families around the world to share their experiences and insights through our community survey. These responses help us better understand how SETBP1 haploinsufficiency disorder (SETBP1-HD) and related disorders impact individuals and families—and guide our efforts to support you through advocacy, education, and research collaboration.

About the 2025 Survey

The 2025 Community Survey built upon the foundation of our 2024 effort, with a continued focus on understanding both the child and adult populations within the SETBP1 community. As the number of diagnosed adults continues to grow, this year’s survey also included a dedicated section to learn more about their experiences, strengths, and needs.

A total of 85 families participated in 2025, including 77 fully completed and 8 mostly completed surveys. For families who took part in both the 2024 and 2025 surveys, we included only your most recent responses to ensure the most accurate representation of our community today.

A Global Effort

This year’s survey was available in 7 languages — English, Dutch, French, German, Italian, Portuguese, and Spanish — making it more accessible to our global SETBP1 community. We’re deeply grateful to the volunteers who helped translate and share the survey, ensuring that every family could participate in the language they are most comfortable with. 🌍

View 2025 SETBP1 Community Results:

📖 English Survey Results

📖 Nederlands Enquête Resultaten (Dutch Survey Results)

📖 Français Résultats du Sondage (French Survey Results)

📖 Deutsch Umfrageergebnisse (German Survey Results)

📖 Italiano Risultati del Sondaggio (Italian Survey Results)

📖 Português Resultados da Pesquisa (Portuguese Survey Results)

📖 Español Resultados de la Encuesta (Spanish Survey Results)

What We Learned

The results provide valuable insights into daily life with SETBP1-HD and related disorders—from developmental milestones and communication to health and well-being, schooling, and medical care. The data also highlight how needs may change over time, emphasizing the importance of ongoing support and resources for both children and adults.

This information helps us:

• Identify shared challenges and priorities across the community.
• Guide future research collaborations with scientists and clinicians.
• Strengthen our advocacy for services and support programs worldwide.

Thank You

To every family who took the time to complete the survey—thank you. Your participation continues to drive our understanding of SETBP1-HD forward and ensures that the community’s voice remains at the center of everything we do.

Together, we are building knowledge, connection, and hope for everyone impacted by SETBP1 haploinsufficiency and related disorders. 💙