Resources Archives - SETBP1 Society

New Parent Speech & Communication Survey Results Report Now Available

haley — Thu, 14 May 2026 14:58:45 +0000

The SETBP1 Society is excited to share the launch of our new Parent Speech & Communication Survey Results Report, created from responses provided by families across the global SETBP1 community.

In early 2026, 111 parents and caregivers participated in this community survey, sharing their experiences, challenges, insights, and successes related to speech, language, AAC, and communication development in individuals with SETBP1 conditions.

The report includes responses from SETBP1 Bees ranging in age from 1 to 41 years old and highlights the wide range of communication profiles seen across our community.

What’s Included in the Report?

The report features:

Summary findings and trends from the survey
Parent and caregiver suggestions
Communication supports families found helpful
Approaches that did not work well for some individuals
Information about AAC, gestures, speech development, and multimodal communication
Speech and communication profiles across different ages and abilities
Community perspectives and lived experiences

We hope this report helps families, therapists, educators, clinicians, and researchers better understand the diverse communication journeys within the SETBP1 community.

Available in Multiple Languages

To help make this resource accessible to more families worldwide, the report is available in 6 languages, including English.

Available languages:

English
Dutch
French
German
Italian (coming soon)
Portuguese
Spanish

Check Out the Survey Report

You can view the survey report here:

If your website supports automatic language detection, visitors can also be redirected to the version that matches their selected website language.

Thank You to Our Community

A huge thank you to every parent and caregiver who took the time to participate in this survey and share your experiences. Your contributions are helping build a stronger understanding of communication development in SETBP1 haploinsufficiency disorder and related disorders and will help guide future family resources, research, and clinical discussions.

We are grateful to our entire SETBP1 community for continuing to share knowledge, support one another, and help advance understanding together.

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2025 SETBP1-HD Model Overview Update

haley — Mon, 01 Dec 2025 00:03:30 +0000

As the year comes to a close, we wanted to take a moment to highlight the current breadth and depth of ongoing research efforts for SETBP1-HD in relation to model development. In May 2025, we released our Research Strategy outlining where we are as a Society and where we plan to focus in the years ahead. One key focus area included model development and characterization. Our goal as a foundation is to provide resources and pair with different research entities to advance cellular and animal models to uncover disease mechanisms to ultimately identify safe and effective treatments for individuals with SETBP1-HD. The Model Overview Update infographic (see above) details existing and under-progress models and lines to achieve that goal.

References/Resources:

Zebrafinch:
- https://www.nature.com/articles/s41598-024-75353-w
FIbroblasts
- https://www.setbp1.org/research/
Zebrafish
- https://www.setbp1.org/creation-of-zebrafish-models-to-provide-unique-insights-into-impact-of-setbp1-hd/
Mice
Brain Organoids
Whole Blood
- https://www.sfari.org/resource/simons-searchlight/
Fibroblasts
- https://www.setbp1.org/research/
iPSCs
hESCs
- https://pubmed.ncbi.nlm.nih.gov/36805818/
- https://www.mousephenotype.org/data/genes/MGI:1933199

Authored by Jordan Whitlock, PD – SETBP1 Society Science Coordinator

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SETBP1-HD/SETBP1-RD Education Guide

haley — Mon, 22 Sep 2025 19:31:41 +0000

My name is Sophie, and I’m a clinical-community psychology Ph.D. student at the University of South Carolina in the Brain Research Across Development (B-RAD) Lab under the mentorship of Dr. Caitlin Hudac. Many of you may know me from doing EEGs with your children at the 2024 Family and Researcher Conference, 2025 Million Dollar Bike Ride, or in your homes as part of the B-RAD Lab BIOGENE study.

When I started graduate school in 2024, I was eager to study rare genetic conditions and use brain-based tools to understand how people grow, learn, and regulate their emotions. To my surprise, my very first project wasn’t about the brain at all; I needed to get to know the SETBP1 community and learn how I could support families directly. That’s when Haley and the rest of the SETBP1 community welcomed me in. Through conversations in formal meetings, in between talks at events, while setting up our EEG equipment in a living room or a kitchen, or at the zoo, one thing became very clear: how difficult it can be to find, organize, and keep track of resources despite the immense effort from families. Based on results from a SETBP1 parent survey conducted as part of a previous SETBP1 Community Research Study (SCoReS), a proposal was developed to provide resources. Building on this, we decided to create a single, accessible guide that brings together as many resources as possible in one place.

I have had the privilege of talking with families, professionals, and researchers to learn what information would be most helpful. Many of you pointed me to resources, shared your stories, or contributed quotes that became my favorite part of the guide. With invaluable support from Haley and the B-RAD Lab team (especially Liv Mace, Wae Man Chan, and Ashlan Cheever), we gathered information from scientific articles, SCoReS research, other rare communities, and, most importantly, the voices of SETBP1 families themselves to create the SETBP1-HD/RD Education Guide.

This guide covers genetics, co-occurring conditions, therapies, education, advocacy, caregiver self-care, siblings’ experiences, developmental stages, and more. While no guide can ever contain everything, our hope is that this one makes a new diagnosis, a new developmental stage, or a new challenge feel just a little more manageable. Thank you to every family who trusted me with your time, stories, and insights—and a special thank you to Haley, without whom this project would not exist. This guide is for you and because of you.

Link: SETBP1-HD/SETBP1-RD Education Guide

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Bite-Sized Breakthroughs – February 6, 2025

haley — Thu, 06 Feb 2025 18:00:00 +0000

SETBP1 Genetics: Bite-Sized Breakthroughs

Breaking down new breakthroughs in SETBP1 research in an easy to digest way

Welcome to our 5th “SETBP1 Genetics: Bite-sized Breakthrough”.

This time, we are looking at a breakthrough article published in Molecular Autism in 2024 by Dr Nicole Shaw and Dr Vanessa Fear from Telethon Kids in Australia. This publication titled Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling provides insight into the use CRISPR/Cas9 genome editing technology in pluripotent stem cells to uncover the molecular underpinnings of specific variants in SETBP1-HD.

Check out this short read by our Scientific Coordinator, Jordan Whitlock HERE

Check out our other SETBP1 Genetics: Bite-Sized Breakthroughs HERE

Read the full publication HERE

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Bite-Sized Breakthroughs – December 18, 2024

haley — Wed, 18 Dec 2024 14:00:00 +0000

SETBP1 Genetics: Bite-Sized Breakthroughs

Breaking down new breakthroughs in SETBP1 research in an easy to digest way

Welcome to our 4th “SETBP1 Genetics: Bite-sized Breakthrough”.

This time, we are looking at a breakthrough article published in Clinical Genetics in 2024 by Haley O Oyler from SETBP1 Society and an esteemed team of medical and professional colleagues. This publication titled SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study provides detailed results from the SETBP1-HD and related disorders registry hosted by Simons Searchlight. This is the first publication to make this information available not only to the SETBP1 community, but also, for the medical and broader community to view. This Breakthrough includes an added bonus about the story behind the publication.

Here is an excerpt from this Bite-Size Breakthrough: ” The first step on the path to identifying targeted treatments in any disorder, especially rare ones, is the establishment of a well characterized presentation of a disorder. For many groups, this begins with a natural history and patient registry. Both of these were prioritized early on in the formation of the SETBP1 Society. This paper details the first in-depth phenotype study for both SETBP1 haploinsufficiency disorder (SETBP1-HD) and SETBP1-related disorders (SETBP1-RD).”

Check out this short read by our Scientific Coordinator, Jordan Whitlock HERE

Check out our other SETBP1 Genetics: Bite-Sized Breakthrough at HERE

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SETBP1 Community Survey – 2024

haley — Tue, 13 Aug 2024 18:37:59 +0000

SETBP1 Society provided a survey to the SETBP1 Community for parents and caregivers to complete starting in April earlier this year. The survey was available in 7 languages including English. Ninety-one surveys were started and 61 were fully completed with 7 mostly completed. The survey was designed to help us better understand how SETBP1-HD and related disorders impact affected children and adults and their families. As our adult population is growing, a separate section was dedicated to learn more about this specific population. The results of this survey are now available in English.

Download Survey Results

Survey Results in Dutch

Survey Results in French

Survey Results in German

Survey Results in Italian

Survey Results in Portuguese

Survey Results in Spanish

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Faces of SETBP1

haley — Mon, 13 May 2024 21:37:57 +0000

SETBP1 Society supports over 220 families impacted by SETBP1 haploinsufficiency disorder (SETBP1-HD) and related disorders. We have a private Facebook group for parents and caregivers with children (young to adult) affected by SETBP1-HD and related disorders (search for SETBP1 support site/groupe d’entraide) and a Facebook group for extended family (search for SETBP1 Friends and Family). We ask that all of our families complete our SETBP1 Society Contact Registry at https://setbp1.org/contact-registry so we can connect with all of the SETBP1 families, provide information, and also identify all the SETBP1 variants and deletions seen within the community. These are just a few of the children we support. Check out “For Families” section on our website for more help!

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2024 SETBP1 Community Survey

haley — Thu, 11 Apr 2024 15:51:00 +0000

Our 2024 SETBP1 Community Survey is available for SETBP1 families to complete in English, Dutch, French, German, Italian, Portuguese, and Spanish. We want to hear from you! Please take about 15 minutes to complete this short survey

There is an additional section included for SETBP1 parents and caregivers of young adults as we have very little data on the impact of SETBP1-HD and related disorders on individuals over 18 years of age.

Our hope is to have at least 30 completed surveys by the end of May!

Complete the survey

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New Speech and Language Resource for SETBP1-HD

haley — Wed, 25 Jan 2023 18:30:58 +0000

New Speech and Language Resource for SETBP1-HD

The team at the Speech and Language Centre of Research Excellence at Murdoch Children’s Research Institute partnered with SETBP1 Society to provide a new resource for SETBP1 families. This resource focuses on the identified speech and language difficulties experienced by children with SETBP1 haploinsufficiency disorder (SETBP1-HD). SETBP1 families often ask for guidance with helping their children learn to communicate. They want to know what has worked for other children and what speech and language challenges have been identified for our SETBP1 children. By providing children the ability to communicate their needs and wants, the frustration levels experienced by both the children and the parents decrease.

This resource can help parents with questions like the following:

What types of speech and language challenges have been identified for children with SETBP1-HD?
Could an augmentative and alternative communication (AAC) device or sign language help my child communicate? Or will it postpone or prevent verbal communication development?
When should I consider looking into speech therapy for my child?
What resource can I share with my child’s speech therapist or pediatrician?

View the Speech and Language Resource