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Deliberate paradigm shift in research in rare neurodevelopmental disorders
Jennifer M Bain1, Adel Ardalan2, Sylvie Goldman3,4
1Department of Neurology, Division of Child Neurology, Columbia University Irving Medical Center, 180 Fort Washington Avenue, 5th Floor, New York, NY, 10032, USA. jb3634@cumc.columbia.edu.
Insights
Virtual family meetings can improve research for rare neurodevelopmental disorders (RNDDs) by increasing patient access and data collection. This approach enhances understanding and treatment of RNDDs globally.
Area of Science:
- Pediatric Neurology
- Genetics
- Rare Diseases
Background:
- Diagnosis and management of rare neurodevelopmental disorders (RNDDs) present significant challenges.
- The COVID-19 pandemic necessitated innovative approaches to research continuity.
Discussion:
- Advocates for a paradigm shift towards virtual family meetings as ecological platforms for RNDD research enrollment and assessment.
- Highlights the critical role of remote research in maintaining support, education, and feedback for affected families.
- Demonstrates how virtual platforms can substantially increase geographical and age range coverage for RNDD studies.
Key Insights:
- Virtual family meetings are effective for enrolling and assessing individuals with rare disorders remotely.
- Increased geographical and age range coverage is achievable through virtual research platforms.
- Phenotypic variations in RNDDs can be better captured with expanded participant diversity.
Outlook:
- Calls for community investment in integrated technological platforms for effective remote research.
- Emphasizes the importance of standardization, collaboration, and training for successful virtual research initiatives.
- Suggests that embracing virtual methodologies is crucial for advancing the understanding and treatment of RNDDs.
Abstract:
Diagnosis and management of children with rare neurodevelopmental disorders (RNDDs) are complex. The COVID-19 pandemic has forced us to rethink the research activities critical to improve our understanding and treatment of RNDDs, such as creating large international registries and developing natural history studies. In this communication, we reflect on our latest effort in conducting research remotely while providing support, education and feedback to families affected by a specific RNDD. Specifically, we advocate for a deliberate paradigm shift towards virtual family meetings as ecological platforms to enroll and assess individuals with rare disorders. Herein, we demonstrate that such a shift is crucial to substantially increasing geographical and age range coverage, which are essential for capturing the phenotypic variations in RNDDs. Finally, we call on the community to invest in building integrated technological platforms necessary for effective remote research activities, through standardization, collaboration and training.
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