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.
Highlights
A rare neurodevelopmental disorder (RNDD) is defined as a neurodevelopmental condition that affects fewer than 200,000 people
The natural history of many RNDDs needs to be described in detail before an intervention can be proposed that will impact the natural trajectory of such disorders
We report on our most recent effort in conducting research remotely to provide support, education and feedback to families affected by a specific RNDD and share the lessons we learned from our experience
Summary
A rare neurodevelopmental disorder (RNDD) is defined as a neurodevelopmental condition that affects fewer than 200,000 people. We argue that the RNDD research community should embrace a deliberate and concerted paradigm shift toward sustained online research activities for the following reasons: (1) Virtual family meetings could provide a more accessible, convenient and intimate way for individuals with rare disorders and their families, to participate in research studies; (2) These virtual meetings use more ecological platforms for assessment and treatment
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