Cross-sectional, quantitative analysis of motor function in females with HNRNPH2-related disorder.
GMFM-88 and PEDI-CAT mobility scores match so well in HNRNPH2 girls that you only need one of them.
01Research in Context
What this study did
Salazar et al. (2021) ran a one-time lab visit with 17 girls who have HNRNPH2-related disorder. The team gave two motor tests on the same day: the Gross Motor Function Measure (GMFM-88) and the PEDI-CAT mobility module. They wanted to know if the two tools tell the same story.
HNRNPH2 disorder causes severe intellectual disability and delayed motor milestones. Most girls cannot walk alone. The study is the first to check if these standard scales agree in this ultra-rare group.
What they found
Every girl scored in the impaired range on both tools. More important, the GMFM-88 and PEDI-CAT mobility scores lined up almost perfectly. A high score on one meant a high score on the other.
The strong match gives you confidence that either test will give the same clinical picture. You can pick the one that fits your clinic time and staff skills.
How this fits with other research
Valluripalli Soorya et al. (2025) extends this idea. They tested common autism and IQ tools in kids with Phelan-McDermid, TSC, and PTEN syndromes. Many of those tests failed because the children had too little language or too severe ID. The message: validate your tool for each rare gene.
Mount et al. (2011) used a fancier stats model (random coefficient) to catch day-to-day motor swings in Developmental Coordination Disorder. Rachel et al. did not look at daily change, but both papers push for precise, numbers-first motor measurement in developmental disorders.
Taylor et al. (2017) asked the same practical question in Down syndrome: which sleep scale works best? They found one clear winner, just like Rachel et al. found two motor tools that agree. Together, the studies give you a recipe: compare your options, then pick the simplest valid one.
Why it matters
If you serve girls with HNRNPH2, you no longer need to give both the GMFM-88 and the PEDI-CAT. Choose the shorter one, or the one your PT already knows. Either tool gives a solid baseline for goal setting and progress tracking. Save the extra time for teaching new skills instead of redundant testing.
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02At a glance
03Original 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.
Research in developmental disabilities, 2021 · doi:10.1016/j.ridd.2021.104110