Publications by authors named "Madison Patterson"
Article Synopsis
- Individuals with PPP2R5D-related neurodevelopmental disorder exhibit atypical gait patterns such as ataxia and incoordination, necessitating structured assessments to better understand their functional impacts.
- The study involved 26 participants (median age 8), who underwent various gait assessments showing that they walked slower and with a wider base of support compared to age- and sex-matched healthy norms.
- Significant relationships were found between stride distance and velocity during different walking conditions, indicating that these gait impairments could hinder their ability to adapt to changes in their environment and affect daily life activities.
Orphanet J Rare Dis
February 2024
Article Synopsis
- PPP2R5D-related neurodevelopmental disorder is a rare genetic condition associated with symptoms like hypotonia, motor delays, intellectual disability, and epilepsy, with only 103 documented cases.
- This study evaluated 38 individuals with PPP2R5D to validate the Gross Motor Function Measure (GMFM) and assess gross motor skills using various tests, showing strong correlations between GMFM results and other mobility measures.
- The findings support the GMFM as a reliable tool for assessing and characterizing motor function in patients with PPP2R5D, which can aid future research and care strategies.
