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Abstract Details

The Pediatric Evaluation of Disability Inventory Computer Adaptive Test in Individuals with HNRNPH2-Related Disorders
Neuro-rehabilitation
P8 - Poster Session 8 (8:00 AM-9:00 AM)
15-004
To prospectively evaluate the functional abilities and trajectory of individuals with HNRNPH2-related disorders with the Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT).
Individuals with HNRNPH2-related disorders present with intellectual disabilities, motor delays, developmental regressions and autism spectrum disorder. The PEDI-CAT is a computerized caregiver-reported outcome measures that assesses four domains: daily activities, mobility, social/cognitive and responsibility. The PEDI-CAT was designed to evaluate individuals ages birth to 21 years old with all clinical diagnoses. The progression of functional abilities have not been studied in individuals with HNRNPH2-related disorders. 
Participants in a prospective observational natural history study of HNRNPH2-related disorders performed multidisciplinary evaluations at baseline and one-year followup. Caregivers completed the PEDI-CAT to describe the functional performance of 16 participants with HNRNPH2-related disorders (baseline mean age 12.5 years, range 3.3 – 37.1 years, 93% female). Descriptive statistics for the PEDI-CAT were performed. The one-year mean domain score differences were analyzed using paired t-tests. 

Individuals with HNRNPH2-related disorders had mean normative scores less than age-matched peers in all domains.  Mean domain scores at baseline (20 – 80 scale metric) were: daily activities 47.9 (SD 5.1), mobility 57.5 (SD 5.5), social/cognitive 56.8 (SD 5.2) and responsibility 36.4 (SD 8.3).  Of the 16 participants, 87.5% scored below the 5th percentile for age in each domain. 

In 4 female participants (baseline mean age 10.2, range 3.3 – 21.3), the mean domain score point changes at one-year followup were: daily activities +0.25, mobility 0.0, social/cognitive -0.5, and responsibility +0.25. The mean domain score point changes were not statistically significant. 
The PEDI-CAT is a caregiver-reported instrument that captures the functional abilities across a wide age-range of individuals with HNRNPH2-related disorders. One-year changes in domain scores demonstrate a trend toward stability in functional performance. Future studies should explore the responsiveness of the PEDI-CAT in larger longitudinal studies. 
Authors/Disclosures
Rachel Salazar, PT (Columbia University)
PRESENTER 		No disclosure on file
Sara Beenders No disclosure on file
Olivia Thornburg Olivia Thornburg has nothing to disclose.
No disclosure on file
Jennifer Bain, MD, PhD (Columbia Doctors) Dr. Bain has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Guidepoint Consulting. Dr. Bain has received personal compensation in the range of $0-$499 for serving as a Consultant for M3 Consulting. Dr. Bain has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Legal Company . Dr. Bain has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Grin Therapeutics. The institution of Dr. Bain has received research support from Yellow Brick Road Project.