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Expanding the Phenotype of SETD5-Related Disorder Through a Facebook Support Group
Nicole Talaba1, Hope Northrup1, Syed Hashmi2
1The University of Texas MD Anderson Cancer Center, UTHealth Houston Graduate School of Biomedical Sciences, Houston, Texas; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at UTHealth Houston, Houston, Texas.
Pediatric Neurology
|July 17, 2026
Summary
This study surveyed families in a SETD5-related disorder Facebook group, expanding the known features of this rare neurodevelopmental condition. Online communities provide valuable support and information exchange for affected families.
Area of Science:
- Genetics and rare diseases
- Neurodevelopmental disorders
- Online community research
Background:
- SETD5-related disorder is a rare neurodevelopmental condition.
- Characterized by intellectual disability, developmental delay, and autism spectrum disorder.
- Few cases reported, leading families to online support.
Purpose of the Study:
- Expand the phenotypic spectrum of SETD5-related disorder.
- Describe the experiences of families in an online support group.
- Assess the utility of online communities for rare disease support.
Main Methods:
- Descriptive online survey of SETD5-related disorder Facebook group members.
- Survey collected data on medical features and community experiences.
- Quantitative and qualitative data analysis.
Main Results:
- 51 participants from 12 countries responded.
- Common features: developmental delay (96%), hypotonia (78%), intellectual disability (75%).
- Potential novel findings: high pain tolerance (43%), persistent leg pain (31%).
Conclusions:
- Facebook groups empower families through shared experiences.
- Findings broaden the understanding of SETD5-related disorder.
- Results inform prognosis, surveillance, and management strategies.
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