Abstract
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.
Disclosure: Dr. Salazar has received research support fromSMA Foundation, Biogen, Roche, AveXis, Mallinckrodt, Ultragenyx, PTC Therapeutics, Sarepta Therapeutics, and the Jain Foundation. . Dr. Beenders has nothing to disclose. Dr. La Marca has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Biogen, AveXis, Inc., PTC Therapeutics, and Sarepta Therapeutics. Dr. La Marca has received research support from Biogen, AveXis, Inc., Roche, PTC Therapeutics, and Sarepta Therapeutics. Dr. Thornburg has nothing to disclose. Dr. Snow has nothing to disclose. Dr. Goldman has nothing to disclose. Dr. Bain has nothing to disclose.
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