{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zreibe K"],"funding":["NICHD NIH HHS","National Institute of Child Health and Human Development"],"pagination":["77-83"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11056288"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["110"],"pubmed_abstract":["<h4>Background</h4>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.<h4>Research question</h4>How do gait parameters and ambulatory function of individuals with PPP2R5D-related neurodevelopmental disorder compare to age and sex matched healthy norms?<h4>Methods</h4>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 "],"journal":["Gait & posture"],"pubmed_title":["Characterizing ambulatory function in children with PPP2R5D-related neurodevelopmental disorder."],"pmcid":["PMC11056288"],"funding_grant_id":["P50 HD109879","P50 HD105351"],"pubmed_authors":["Chung WK","Uher D","Harris M","Zreibe K","Montes J","Kanner CH","Calamia S","Beard G","Patterson M","Doerger J"],"additional_accession":[]},"is_claimable":false,"name":"Characterizing ambulatory function in children with PPP2R5D-related neurodevelopmental disorder.","description":"<h4>Background</h4>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.<h4>Research question</h4>How do gait parameters and ambulatory function of individuals with PPP2R5D-related neurodevelopmental disorder compare to age and sex matched healthy norms?<h4>Methods</h4>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 ","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 May","modification":"2026-06-02T20:44:08.19Z","creation":"2026-04-20T03:10:35.694Z"},"accession":"S-EPMC11056288","cross_references":{"pubmed":["38547676"],"doi":["10.1016/j.gaitpost.2024.03.012"]}}