Investigation of Gait Characteristics and Kinematic Deviations in Rare Genetic Disorders with Instrumented Gait Analysis.
Background: 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 an...
| Publicado en: | Journal of Intellectual Disability Research Vol. 69; no. 5; pp. 383 - 393 |
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| Autores principales: | , , , , , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Wiley-Blackwell
May2025
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=184225854&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 184225854 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 09642633 EUL jtl: Journal of Intellectual Disability Research issn: 09642633 maglogo: Y pubinfo: dt: May2025 vid: 69 iid: 5 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 184225854 183792935 184225854 184225854 10.1111/jir.13218 184225854 ppf: 383 ppct: 10 formats: fmt: – @attributes: type: T – @attributes: type: C – @attributes: type: P tig: atl: Investigation of Gait Characteristics and Kinematic Deviations in Rare Genetic Disorders with Instrumented Gait Analysis. aug: au: Kınacı‐Biber, Esra Gys, Lis Jansen, Anna C. Schoonjans, An‐Sofie Van Dijck, Anke Kooy, R. Frank Van de Walle, Patricia Hallemans, Ann affil: Graduate School of Health Sciences, Physical Therapy and Rehabilitation Division, Hacettepe University, Ankara, Türkiye sug: subj: Gait Analysis Kinematics Hereditary Diseases Complications Tuberous Sclerosis Epilepsies, Myoclonic Intellectual Disability Gait Disorders, Neurologic Etiology Walking Physiology Human Funding Source Male Female Child Adolescence Young Adult Cross Sectional Studies Case Control Studies Motor Skills Disorders Muscle, Skeletal Physiology Biomechanics Gait Physiology Walking Speed Physiology Child: 6-12 years Adolescent: 13-18 years Male Female ab: Background: 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®) 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. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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