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Journal article
A Prospective, Longitudinal Study of Caregiver-Reported Adaptive Skills and Function of Individuals with HNRNPH2-related Neurodevelopmental Disorder
Advances in neurodevelopmental disorders, v 8(3), pp 445-456
01 Sep 2024
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
ObjectivesThis study presents a cohort of individuals in a natural history study with de novo pathogenic missense variants in HNRNPH2 causative of HNRNPH2-related neurodevelopmental disorder (NDD) to describe individuals' adaptive functional abilities.MethodsWe measured adaptive function using the Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT) and the Vineland Adaptive Behavior Scale (VABS-III). Results were compared using inferential statistics and regression analysis.ResultsSixty-seven individuals carried known pathogenic or likely pathogenic variants in HNRNPH2. Thirty-five participants (2.89-42.04 years, 83% female) and caregivers completed PEDI-CAT assessments with 25 of these participants completing the VABS-III. Sixteen, three and two participants completed a follow-up PEDI-CAT assessment at one, two and three years respectively. Individuals had mean normative scores less than age-matched peers across all domains on both PEDI-CAT and VABS-III measures, with 91% participants < 5(th) percentile on both the PEDI- CAT and VABS-III. Verbal and ambulatory participants had significantly higher PEDI-CAT scores across all domains, using both raw and normative data. There was no significant change in PEDI-CAT scores over 3 years.ConclusionsOverall scores, both raw and normative, are low across all individuals with HNRNPH2-related NDD using both the PEDI-CAT and VABS-III. PEDI-CAT normative scores do not likely represent the clinical variability, but raw scores may be able to capture functional variability. In a small sample, longitudinal data from the PEDI-CAT domain scores demonstrate stability in performance at 3 years.
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Details
- Title
- A Prospective, Longitudinal Study of Caregiver-Reported Adaptive Skills and Function of Individuals with HNRNPH2-related Neurodevelopmental Disorder
- Creators
- Thomas J. Davis - Columbia UniversityRachel Salazar - Morgan Stanley Children's HospitalSarah Beenders - Drexel UniversityAmelia Boehme - Columbia Univ Irving Med Ctr, Dept Neurol, New York, NY 10032 USANicole M. LaMarca - Morgan Stanley Children's HospitalJennifer M. Bain - Morgan Stanley Children's Hospital
- Publication Details
- Advances in neurodevelopmental disorders, v 8(3), pp 445-456
- Publisher
- Springer Nature
- Number of pages
- 12
- Grant note
- RTW Foundation UL1TR001873 / National Institutes of Health; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA National Center for Advancing Translational Sciences; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Center for Advancing Translational Sciences (NCATS)
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Physical Therapy (and Rehabilitation Sciences)
- Web of Science ID
- WOS:001043624300001
- Scopus ID
- 2-s2.0-85166970499
- Other Identifier
- 991021861296804721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Education, Special
- Psychology, Developmental
- Rehabilitation