Abstract Details

Title Motor Function of Individuals with HNRNPH2-related Disorders.

Topic Neuro-rehabilitation

Presentation(s) P5 - Poster Session 5 (5:30 PM-6:30 PM)

Poster/Presentation
Number 7-012

Objective To describe the gross motor function of individuals with HNRNPH2-related disorders and determine the associations between motor function and caregiver-reported functional measures.

Background Individuals with HNRNPH2-related disorders present with neurodevelopmental features including developmental delays, ataxia, hypotonia, hypertonia, gait disturbances, joint laxity, scoliosis, pes planus and autism spectrum disorder. Clinical management of individuals with HNRNPH2-related disorders is supportive as there are no specific treatments currently available. Rehabilitation specialists including physical therapists are involved in the evaluation and symptomatic treatment of these individuals. However, motor function has not yet been formally studied.

Design/Methods Ten female participants with HNRNPH2-related disorders (mean age 14.4 years, range 3.3 - 37.1 years) performed the Gross Motor Function Measure -88 (GMFM-88) and caregivers completed the Pediatric Evaluation of Disability Inventory-Computer Adaptive Test (PEDI-CAT). Descriptive statistics for the GMFM-88 and PEDI-CAT were performed and convergent validity was determined using Pearson correlation coefficients.

Results

Of the 10 participants, 90% sat independently, 70% stood independently, 60% walked 10 steps, 40% negotiated stairs with a handrail and none of the participants were able to negotiate stairs without a handrail. The mean GMFM-88 total score was 128.6 points (range: 58 – 239) and the mean PEDI-CAT mobility domain score was 57.5 (range: 49 – 63). Convergent validity was found between the GMFM-88 total score and the PEDI-CAT mobility domain score (n= 10, r = 0.814, p = 0.004).

Conclusions The GMFM-88 is useful in the evaluation of gross motor function across the disease spectrum of individuals with HNRNPH2-related disorders. Correlation between the GMFM-88 score and mobility in daily life reported by the caregiver on the PEDI-CAT, warrant the use of these outcome measures in future longitudinal studies. Further research is required to develop a psychometrically sound condition-specific motor outcome measure.

Authors/Disclosures
Rachel Salazar, PT (Columbia University) PRESENTER	No disclosure on file
Sara Beenders	No disclosure on file
	No disclosure on file
Olivia Thornburg	Olivia Thornburg has nothing to disclose.
	No disclosure on file
Sylvie Goldman, PhD (Columbia University)	Dr. Goldman has nothing to disclose.
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.

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