Cross-sectional, quantitative analysis of motor function in females with HNRNPH2-related disorder

• Published in: Research in developmental disabilities 2021-12, Vol.119, p.104110-104110, Article 104110
• Main Authors: Salazar, Rachel, Beenders, Sara, LaMarca, Nicole M., Thornburg, Olivia, Rubin-Thompson, Lewis, Snow, Arielle, Goldman, Sylvie, Chung, Wendy K., Bain, Jennifer M.
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Caregiver-report; Cerebral Palsy; Child; Child, Preschool; Computers; Cross-Sectional Studies; Disability Evaluation; Female; Heterogeneous-Nuclear Ribonucleoprotein Group F-H - genetics; HNRNPH2; Humans; Intellectual Disability - genetics; Motor function; Motor Skills; Neurodevelopmental disorder; Young Adult
• ISSN: 0891-4222; 1873-3379
• DOI: 10.1016/j.ridd.2021.104110

•HNRNPH2-related neurodevelopmental disorder has quantifiable motor impairment.•The GMFM-88 and PEDI-CAT scores validly quantifies motor abilities.•Motor function is accurately assessed by caregivers of individuals with HNRNPH2. 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. 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). 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. 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.