Investigation of Gait Characteristics and Kinematic Deviations in Rare Genetic Disorders with Instrumented Gait Analysis. Journal of Intellectual Disability Research, 69(5), 383-392.

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dc.contributor.authorKınacı-Biber, Esra
dc.contributor.authorGys, L.
dc.contributor.authorJansen, A. C.
dc.contributor.authorSchoonjans, A. S.
dc.contributor.authorVan Dijck, A.
dc.contributor.authorKooy, R. F.
dc.contributor.authorHallemans, A. (2025).
dc.date.accessioned2026-03-18T15:23:21Z
dc.date.available2026-03-18T15:23:21Z
dc.date.issued2025
dc.departmentDÜ, Sağlık Bilimleri Fakültesi, Fizyoterapi ve Rehabilitasyon Bölümü
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 andnon-crouch, have been described using instrumented 3D gait analysis (i3DGA). This cross-sectional study measures gait in par-ticipants with TSC and HVDAS. The findings are compared to the known crouch and non-crouch gait patterns observed in DSand 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 comparedwith typically developing (TD) peers (n = 33). All participants underwent i3DGA (Plugin Gait model processed with Vicon Nexusand MATLAB®) to investigate spatiotemporal and lower-limb kinematics.Results: All three genetic syndromes showed increased step width. Participants with HVDAS and DS, but not participants withTSC walked with decreased step length and velocity compared to TD. HVDAS demonstrated increased knee flexion during thestance 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 foundin 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 variabil-ity of clinical and genetic features might explain heterogeneity in gait deviations and should be further explored.
dc.identifier.doi10.1111/jir.13218
dc.identifier.endpage383
dc.identifier.issue69
dc.identifier.scopusqualityN/A
dc.identifier.startpage392
dc.identifier.urihttps://doi.org/10.1111/jir.13218
dc.identifier.urihttps://hdl.handle.net/20.500.12684/22228
dc.identifier.volume5
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakWeb of Science
dc.language.isoen
dc.publisherWiley
dc.relation.ispartofJournal of Intellectual Disability Research
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_Yazar_20260318
dc.subjectgait analysis
dc.subjectgenetic disorders
dc.subjectkinematics
dc.subjectrare disease
dc.titleInvestigation of Gait Characteristics and Kinematic Deviations in Rare Genetic Disorders with Instrumented Gait Analysis. Journal of Intellectual Disability Research, 69(5), 383-392.
dc.typeArticle

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