Investigation of Gait Characteristics and Kinematic Deviations in Rare Genetic Disorders with Instrumented Gait Analysis

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dc.authoridVan Dijck, Anke/0000-0002-6713-2943
dc.authoridHallemans, Ann/0000-0003-4101-5279
dc.authoridKINACI-BIBER, ESRA/0000-0002-2977-0928
dc.contributor.authorKinaci-Biber, Esra
dc.contributor.authorGys, Lis
dc.contributor.authorJansen, Anna C.
dc.contributor.authorSchoonjans, An-Sofie
dc.contributor.authorVan Dijck, Anke
dc.contributor.authorKooy, R. Frank
dc.contributor.authorVan de Walle, Patricia
dc.date.accessioned2025-10-11T20:48:13Z
dc.date.available2025-10-11T20:48:13Z
dc.date.issued2025
dc.departmentDüzce Üniversitesien_US
dc.description.abstractBackground: Dravet Syndrome (DS), Helsmoortel-Van Der Aa Syndrome (HVDAS) and Tuberous Sclerosis Complex (TSC) are rare genetic syndromes, sharing intellectual disability (ID) and motor delay. In DS, two distinct gait patterns, crouch and non-crouch, have been described using instrumented 3D gait analysis (i3DGA). This cross-sectional study measures gait in participants with TSC and HVDAS. The findings are compared to the known crouch and non-crouch gait patterns observed in DS and to typical gait. Methods: Participants (6-22 years) with DS (n = 37; 19 crouch and 18 non-crouch), HVDAS (n = 12) or TSC (n = 8) were compared with typically developing (TD) peers (n = 33). All participants underwent i3DGA (Plugin Gait model processed with Vicon Nexus and MATLAB (R)) to investigate spatiotemporal and lower-limb kinematics. Results: All three genetic syndromes showed increased step width. Participants with HVDAS and DS, but not participants with TSC walked with decreased step length and velocity compared to TD. HVDAS demonstrated increased knee flexion during the stance phase, lack of hip extension during pre-swing, and increased ankle dorsiflexion during some phases of the gait cycle (p < 0.001). Additionally, HVDAS showed similar kinematic deviations to DS-NonCrouch. No significant differences were found in terms of kinematics between TSC and TD peers (p > 0.05). Conclusion: The current study reveals differences in gait characteristics from typical functional gait in rare genetic disorders. DS-Crouch, DS-NonCrouch and HVDAS display a more impaired gait from a biomechanical perspective than TSC. The variability of clinical and genetic features might explain heterogeneity in gait deviations and should be further explored.en_US
dc.description.sponsorshipFlemish Research Councilen_US
dc.description.sponsorshipUniversity of Antwerpen_US
dc.description.sponsorshipUniversity Hospital of Antwerpen_US
dc.description.sponsorshipResearch Foundation Flanders [FWO FKM 1805321N]en_US
dc.description.sponsorshipUniversity of Pennsylvania Orphan Disease Center [MDBR-23-003-STXBP1]en_US
dc.description.sponsorship[T003116N]en_US
dc.description.sponsorshipWe would like to thank the patients for their participation. This study was supported by the Flemish Research Council (grant number T003116N), the University of Antwerp, the University Hospital of Antwerp and clinical gait lab of Heder. AJ is supported by a fellowship from the Research Foundation Flanders (FWO FKM 1805321N). LG was supported by a research grant from the University of Pennsylvania Orphan Disease Center in partnership with Lulu's Crew/STXBP1 Disorders (MDBR-23-003-STXBP1).en_US
dc.identifier.doi10.1111/jir.13218
dc.identifier.endpage392en_US
dc.identifier.issn0964-2633
dc.identifier.issn1365-2788
dc.identifier.issue5en_US
dc.identifier.pmid39948735en_US
dc.identifier.scopus2-s2.0-85217764865en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage383en_US
dc.identifier.urihttps://doi.org/10.1111/jir.13218
dc.identifier.urihttps://hdl.handle.net/20.500.12684/21809
dc.identifier.volume69en_US
dc.identifier.wosWOS:001421549100001en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofJournal of Intellectual Disability Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmzKA_WOS_20250911
dc.subjectgait analysisen_US
dc.subjectgenetic disordersen_US
dc.subjectkinematicsen_US
dc.subjectrare diseaseen_US
dc.titleInvestigation of Gait Characteristics and Kinematic Deviations in Rare Genetic Disorders with Instrumented Gait Analysisen_US
dc.typeArticleen_US

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