Donnielle Rome-Martin, Olivia Thornburg, Jennifer Bain; Evaluating the Use of OT Assessments in Individuals With the Ultra-Rare Disease HNRNPH2 Gene Variant. Am J Occup Ther 2020;74(4_Supplement_1):7411500032. https://doi.org/10.5014/ajot.2020.74S1-PO4208
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© 2020 American Occupational Therapy Association
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
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