A Prospective, Longitudinal Study of Caregiver-Reported Adaptive Skills and Function of Individuals with HNRNPH2-related Neurodevelopmental Disorder
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Published:2023-08-07
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Volume:
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ISSN:2366-7532
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Container-title:Advances in Neurodevelopmental Disorders
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language:en
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Short-container-title:Adv Neurodev Disord
Author:
Davis Thomas J., Salazar Rachel, Beenders Sarah, Boehme Amelia, LaMarca Nicole M., Bain Jennifer M.ORCID
Abstract
Abstract
Objectives
This 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.
Methods
We 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.
Results
Sixty-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 < 5th 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.
Conclusions
Overall 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.
Trial Registration: ClinicalTrials.gov NCT03492060.
Funder
RTW Foundation Columbia University Translating Research Program
Publisher
Springer Science and Business Media LLC
Subject
Psychology (miscellaneous),Social Sciences (miscellaneous)
Reference33 articles.
1. Bain, J. M., Ardalan, A., & Goldman, S. (2021a). Deliberate paradigm shift in research in rare neurodevelopmental disorders. Orphanet Journal of Rare Diseases, 16(1), 263. https://doi.org/10.1186/s13023-021-01885-3 2. Bain, J. M., Cho, M. T., Telegrafi, A., Wilson, A., Brooks, S., Botti, C., Gowans, G., Autullo, L. A., Krishnamurthy, V., Willing, M. C., Toler, T. L., Ben-Zev, B., Elpeleg, O., Shen, Y., Retterer, K., Monaghan, K. G., & Chung, W. K. (2016). Variants in HNRNPH2 on the X Chromosome are associated with a neurodevelopmental disorder in females. American Journal of Human Genetics, 99(3), 728–734. https://doi.org/10.1016/j.ajhg.2016.06.028 3. Bain, J. M., Snyder, L. G., Helbig, K. L., Cooper, D. D., Chung, W. K., & Goodspeed, K. (2022). Consistency of parent-report SLC6A1 data in simons searchlight with provider-based publications. Journal of Neurodevelopmental Disorders, 14(1), 40. https://doi.org/10.1186/s11689-022-09449-7 4. Bain, J. M., Thornburg, O., Pan, C., Rome-Martin, D., Boyle, L., Fan, X., Devinsky, O., Frye, R., Hamp, S., Keator, C. G., LaMarca, N. M., Maddocks, A. B. R., Madruga-Garrido, M., Niederhoffer, K. Y., Novara, F., Peron, A., Poole-Di Salvo, E., Salazar, R., Skinner, S. A., ... Chung, W. K. (2021b). Detailed clinical and psychological phenotype of the X-linked HNRNPH2-related neurodevelopmental disorder. Neurology Genetics, 7(1), e551. https://doi.org/10.1212/nxg.0000000000000551 5. Berg, A. T., Palac, H., Wilkening, G., Zelko, F., & Schust Meyer, L. (2021). SCN2A-developmental and epileptic encephalopathies: challenges to trial-readiness for non-seizure outcomes. Epilepsia, 62(1), 258–268. https://doi.org/10.1111/epi.16750
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