Characterizing ambulatory function in children with PPP2R5D-related neurodevelopmental disorder

Area of Science:

• Neuroscience
• Genetics
• Biomechanical analysis

Background:

• PPP2R5D-related neurodevelopmental disorder is associated with atypical gait, including ataxia and incoordination.
• Quantitative gait assessments are crucial for understanding functional impacts.
• This study addresses the need for objective gait analysis in this population.

Purpose of the Study:

• To quantitatively compare gait parameters and ambulatory function in individuals with PPP2R5D-related neurodevelopmental disorder against healthy norms.
• To identify specific gait deviations associated with PPP2R5D pathogenic variants.

Main Methods:

• Observational study involving 26 individuals with PPP2R5D pathogenic variants.
• Utilized quantitative gait analysis, including preferred pace walking, fast-paced walking, running, 6-minute walk test, 10-meter walk run, and timed up and go.
• Compared collected gait variables to published age and sex-matched norms using descriptive statistics, paired t-tests, and regression analyses.

Main Results:

• Participants demonstrated significantly slower walking speeds and wider base of support compared to predicted values.
• Stride velocity was 48.9-70.1% and stride distance 58.5-81.9% of predicted during preferred pace walking.
• Increases in stride distance, not cadence, correlated with stride velocity changes in faster walking and running conditions.

Conclusions:

• Quantitative assessment reveals significant gait impairments in individuals with PPP2R5D-related neurodevelopmental disorder.
• These gait abnormalities may impact environmental adaptation and daily life participation.
• Rehabilitative strategies focusing on gait speed and balance are recommended to enhance function and safety.