Journal article
Cross-sectional, quantitative analysis of motor function in females with HNRNPH2-related disorder
RESEARCH IN DEVELOPMENTAL DISABILITIES, v 119, 104110
Dec 2021
PMID: 34794115
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Aims: To describe the gross motor function of individuals with HNRNPH2-related disorder (OMIM 300986, Mental Retardation, X-linked, Syndrome, Bain Type; MRXSB) and determine the associations between clinician-measured motor function and caregiver-reported mobility scores. Methods: Developmental histories of 17 female participants with HNRNPH2-related disorder (mean age 11.2 years, range 2.7-37.1 years) with various genotypes within and adjacent to the nuclear localization sequence (NLS) were analyzed. Participants performed the Gross Motor Function Measure-88 (GMFM-88) and caregivers completed developmental histories and the Pediatric Evaluation of Disability Inventory-Computer Adaptive Test (PEDI-CAT). Results: All participants had measurable and quantifiable motor impairments. A strong positive correlation between the clinician-measured GMFM-88 total score and the caregiver-reported PEDI-CAT mobility domain score was established. Motor deficits were noted more often in individuals who were nonverbal. The 2 participants with genotypes adjacent to the NLS appear to have milder motor phenotypes. Conclusions: The GMFM-88 and PEDI-CAT are useful and feasible measures of mobility in individuals with HNRNPH2-related disorders. Convergent validity was established between the clinician-measured GMFM-88 raw scores and caregiver-reported PEDI-CAT mobility domain scores. Factors including verbal status and genotype may impact motor abilities.
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Details
- Title
- Cross-sectional, quantitative analysis of motor function in females with HNRNPH2-related disorder
- Publication Details
- RESEARCH IN DEVELOPMENTAL DISABILITIES, v 119, 104110
- Publisher
- PERGAMON-ELSEVIER SCIENCE LTD; OXFORD
- Grant note
- This publication was supported by the National Center for Advancing Translational Sciences, National Institutes of Health, through Grant Number UL1TR001873. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH.
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Drexel University
- Web of Science ID
- WOS:000720430100001
- Scopus ID
- 2-s2.0-85119081532
- Other Identifier
- 991021860762704721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Education, Special
- Rehabilitation