Evaluating the Use of OT Assessments in Individuals With the Ultra-Rare Disease HNRNPH2 Gene Variant

Date Presented 03/27/20

Variants in the HNRNPH2 gene are associated with a neurodevelopmental disorder, including developmental delay, intellectual disability, autism and autistic features, tone abnormalities, and other multisystem problems. A battery of OT assessments to explore OT needs were added to an HNRNPH2 natural history study. Findings indicate further research is necessary in the implementation of OT-based assessments that possess heightened sensitivity to discern disease-specific qualities for this condition.

Primary Author and Speaker: Donnielle Rome-Martin

Additional Authors and Speakers: Olivia Thornburg

Contributing Authors: Jennifer Bain