Characterizing ambulatory function in children with PPP2R5D-related neurodevelopmental disorder.

ABSTRACT:

Background

Individuals with PPP2R5D-related neurodevelopmental disorder have an atypical gait pattern characterized by ataxia and incoordination. Structured, quantitative assessments are needed to further understand the impact of these impairments on function.

Research question

How do gait parameters and ambulatory function of individuals with PPP2R5D-related neurodevelopmental disorder compare to age and sex matched healthy norms?

Methods

Twenty-six individuals with PPP2R5D pathogenic genetic variants participated in this observational, single visit study. Participants completed at least one of the following gait assessments: quantitative gait analysis at three different speeds (preferred pace walking (PPW), fast paced walking (FPW) and running, six-minute walk test

SUBMITTER: Zreibe K 

PROVIDER: S-EPMC11056288 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature