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    Early Motor Repertoire and Developmental Functioning at Later Age of Children Who Were Diagnosed with Autism Spectrum Disorder: A Pilot Study
    (Taylor & Francis Inc, 2025) Kinaci-Biber, Esra; Yardimci-Lokmanoglu, Bilge N.; Mutlu, Akmer
    AimsAutism Spectrum Disorder (ASD) may exhibit early motor delay, and long-term motor impairments in addition to social and communicative problems. This pilot study aimed to describe (i) the early motor repertoire using General Movements Assessment (GMA) of infants later diagnosed with ASD, (ii) the developmental outcomes in these children between 24- and 42-months, and (iii) the relationship between GMA and developmental outcomes.MethodsTen children diagnosed with ASD were included. All infants were assessed using Motor Optimality Score for 3- to 5-month-old Infants-Revised score sheet for GMA, and the Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III) for developmental functioning aged between 24- and 42-months.ResultsThe median Motor Optimality Score-Revised (MOS-R) was 10 (range: 6-28), considered reduced optimal, and 80% of children had less than optimal MOS-R. 60% of the children had aberrant fidgety movements and abnormal postural patterns, and 80% had abnormal but not cramped-synchronized movement character. The mean composite scores of all subdomains in Bayley-III were below 69 (extremely low) in all children.ConclusionsThis study highlighted the importance of early motor repertoire and longitudinal developmental assessments in children with ASD. Further research is needed to explore the potential of this assessment as a screening tool.
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    Investigation of Gait Characteristics and Kinematic Deviations in Rare Genetic Disorders with Instrumented Gait Analysis
    (Wiley, 2025) Kinaci-Biber, Esra; Gys, Lis; Jansen, Anna C.; Schoonjans, An-Sofie; Van Dijck, Anke; Kooy, R. Frank; Van de Walle, Patricia
    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 (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.