Assessing and quantifying gait problems in patients with STXBP1-related disorders using three-dimensional gait analysis
Awardee: Sarah Weckhuysen
Institution: VIB-CMN, University of Antwerp
Grant Amount: $87,125.00
Funding Period: February 1, 2023 - January 31, 2024
Summary:
While STXBP1-related disorders (STXBP-RD) were initially described as being associated with seizures and intellectual disability (ID), the phenotypic spectrum has since then considerably broadened. We now know it includes ID without seizures, behavioral problems such as autism, and a range of movement disorders with often prominent gait problems, which all significantly impact quality of life of both the patients and their caregivers. To date, treatment of STXBP1-RD is largely limited to seizure control and there is a lack of guidelines for multidisciplinary revalidation, including motor revalidation. In this project, we aim to combine our expertise with STXBP1-RD with the available expertise in our university with gait analysis in other neurodevelopmental syndromes such as Dravet syndrome, to characterize the nature and evolution of gait abnormalities and functional mobility in patients with in STXBP-RD. We will do this in a semi-quantitative way using three-dimensional gait analysis in a cohort of 30 children and adults with STXBP-RD. We intend to use the information obtained to develop guidelines for motor revalidation for individuals with STXBP1-RD. Furthermore, the data conducted in this study will contribute to the identification of non-seizure related clinical endpoints related to motor function, a crucial step to ensure successful clinical trials in the future.