Date Presented 03/27/20
Variants in the HNRNPH2 gene are associated with a neurodevelopmental disorder, including developmental delay, intellectual disability, autism and autistic features, tone abnormalities, and other multisystem problems. A battery of OT assessments to explore OT needs were added to an HNRNPH2 natural history study. Findings indicate further research is necessary in the implementation of OT-based assessments that possess heightened sensitivity to discern disease-specific qualities for this condition.
Primary Author and Speaker: Donnielle Rome-Martin
Additional Authors and Speakers: Olivia Thornburg
Contributing Authors: Jennifer Bain
PURPOSE: The rising prevalence of genetic disorders creates a challenge for clinicians to perform relevant, evidence-based assessments of individuals with rare diseases. HNRNPH2-related disorders is an ultra-rare disorder first described in 2016. Individuals with HRNPH2-related disorders were initially described with a distinct neurodevelopmental disorder, including global developmental delay, intellectual disability, and autism spectrum disorder. Although individual with HNRNPH2-related disorders are often referred to occupational therapy (OT), the role of OT in this group has not been formally studied. The purpose of this study is to evaluate the sensory profile and visual motor integration oft individuals with HNRNPH2-related disorders.
DESIGN: A prospective, cross-sectional, and quantitative study design was used. d.Fifteen female participants, ages 2 to 28 years old, enrolled in an IRB approved natural history study performed a standardized occupational therapy evaluation. Participants performed a battery of multidisciplinary evaluations, including the Beery-Buktenica Developmental Test of Visual-Motor Integration (Beery VMI) and the Sensory Profile 2 (SP2).
METHODS: The Beery VMI was administered to 15 participants, ages 2-28 years, to assess visual-motor integration skills. The Beery VMI assessments were video recorded. The SP2 was administered to 9 female participants, ages 2 to 25 years, to assess the participants ability to create a balance between high and low threshold stimuli. The six sensory domains of the SP2 were performed including: auditory processing, visual processing, touch processing, movement processing, oral processing, and behavioral processing.
RESULTS: Sixteen participants attempted the Beery VMI, but only 12 participants completed the test with a mean (M) raw score of 4.7, a standard deviation (SD) of 6.7 and a range of 0 - 22. Fifty percent of participants had a raw score of 1 and 18.7% had a raw score of 0. Nine participants completed the SP2 with a M = 123.3 and SD = 23.7. Two domains yielded raw scores within the 97-99 percentile - touch processing (M = 26.4, SD = 10.5) and movement processing (M = 21, SD = 7.6). Conversely, auditory processing (M = 21.5, SD = 6.4) rendered lower quadrant scores.
CONCLUSION: The Beery VMI and SP2 are widely used in clinical practice and are validated in other neurodevelopmental disorders; however, the utility of these assessments in individuals with HNRNPH2-related disorders is limited. Participants with HNRNPH2-related variants present with hypersensitivity to tactile, kinematic stimuli, and auditory stimuli in this cohort. The SP2 indicates a mixed processing to sensory modalities. The floor-effect seen with the VMI suggests a visual-motor integration deficit; however, a more sensitive measure is required to capture the abilities of this population. Future research will include longitudinal assessments of the SP2; coding of video recordings to provide quantitative analysis of observed mobility and function; and the g development of sensitive tools to quantitatively measure the functional abilities of these individuals.
IMPACT STATEMENT: Current OT assessment tools lack the sensitivity to capture the scope of functional abilities of individuals with neurodevelopmental conditions. OTs are a vital member of the scientific community in pursuit of assessing and enhancing the function of those living with HNRNPH2-related variants.
References
Bain, J. M., Cho, M. T., Telegrafi, A., Wilson, A., Brooks, S., Botti, C., … Chung, W. K. (2016). Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females. The American Journal of Human Genetics, 99(3), 728–734. doi: 10.1016/j.ajhg.2016.06.028
Beery, K. E., Buktenica, N. A., & Beery, N. A. (2010). The Beery–Buktenica Developmental Test of Visual–Motor Integration: Administration, scoring, and teaching manual (6th ed.). Minneapolis, MN: Pearson.
Dunn, W. (2014). Sensory Profile 2 Manual. San Antonio, TX: Pearson.
