Poster Session
Issue Date: August 2020
Published Online: August 01, 2020
Updated: September 09, 2020
Evaluating the Use of OT Assessments in Individuals With the Ultra-Rare Disease HNRNPH2 Gene Variant
Donnielle Rome-Martin, OTR/L; Olivia Thornburg; Jennifer Bain, MD, PhD
Author Affiliations & Notes
  • Columbia University Medical Center, New York, NY, USA
  • Columbia University Medical Center, New York, NY, USA
  • Columbia University Medical Center, New York, NY, USA
Article Information
Autism/Autism Spectrum Disorder / Complementary/Alternative Approaches / Intellectual Disabilities / Pediatric Evaluation and Intervention / Assessment/Measurement
Poster Session   |   August 01, 2020
Evaluating the Use of OT Assessments in Individuals With the Ultra-Rare Disease HNRNPH2 Gene Variant
American Journal of Occupational Therapy, August 2020, Vol. 74, 7411500032. https://doi.org/10.5014/ajot.2020.74S1-PO4208
American Journal of Occupational Therapy, August 2020, Vol. 74, 7411500032. https://doi.org/10.5014/ajot.2020.74S1-PO4208
Abstract

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