Roberto Di Marco1, Ann Hallemans2, Giulia Bellon3, Francesca Ragona4, Elena Piazza4, Tiziana Granata4, Berten Ceulemans5, An-Sofie Schoonjans5, Patricia Van de Walle2, Francesca Darra6, Bernardo Dalla Bernardina6, Marilena Vecchi7, Zimi Sawacha8, Bruno Scarpa9, Stefano Masiero3, Maria Grazia Benedetti10, Alessandra Del Felice11. 1. Laboratory of Clinical Analysis and Biomechanics of Movement, University Hospital of Padova, Padova, Italy; NEUROMOVE-Rehab, Department of Neuroscience, University of Padova, Padova, Italy. Electronic address: roberto.dimarco@unipd.it. 2. MOVANT, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium. 3. NEUROMOVE-Rehab, Department of Neuroscience, University of Padova, Padova, Italy. 4. Department of Paediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy. 5. Department of Pediatric Neurology, Antwerp University Hospital, Antwerp, Belgium. 6. Pediatric Neurology, University Hospital of Verona, Verona, Italy. 7. La Nostra Famiglia Association, University of Padova, Padova, Italy. 8. Department of Information Engineering, University of Padova, Padova, Italy. 9. Department of Statistical Sciences, University of Padova, Padova, Italy. 10. Physical Medicine and Rehabilitation Unit, IRCCS - Istituto Ortopedico Rizzoli, Bologna, Italy. 11. Laboratory of Clinical Analysis and Biomechanics of Movement, University Hospital of Padova, Padova, Italy; NEUROMOVE-Rehab, Department of Neuroscience, University of Padova, Padova, Italy; PNC, Padova Neuroscience Center, Padova, Italy.
Abstract
OBJECTIVE: To quantify gait abnormalities in people with Dravet syndrome (DS). METHODS: Individuals with a confirmed diagnosis of DS were enrolled, and stratified according to knee flexion at initial contact (IC) and range of motion (ROM) during stance (atypical crouch: knee flexion >20° at IC and knee ROM >15° during stance; straight: knee flexion <20° at IC). A 1D ANOVA (α = 0.05) was used to test statistical differences among the joint kinematics and spatio-temporal parameters of the cohort and an age-matched control group. Clinical (neurological and orthopaedic evaluation) and anamnestic data (seizure type, drugs, genetic mutation) were collected; distribution between the two gait phenotypes was assessed with the Fisher exact test and, for mutation, with the chi-squared test (p < 0.05). Linear regression between maximum knee flexion and normalised walking speed was calculated. RESULTS: Seventy-one subjects were enrolled and evaluated with instrumented gait analysis. Fifty-two were included in final analysis (mean age 13.8 ± 7.3; M 26). Two gait patterns were detected: an atypical crouch gait (34.6%) with increased ankle, knee and hip flexion during stance, and reduced walking speed and stride length not associated with muscle-tendon retractions; and a pattern resembling those of healthy age-matched controls, but still showing reduced walking speed and stride length. No differences in clinical or anamnestic data emerged between the two groups. SIGNIFICANCE: Objectively quantified gait in DS shows two gait patterns with no clear-cut relation to clinical data. Kinematics abnormalities may be related to stabilization issues. These findings may guide rehabilitative and preventive measures.
OBJECTIVE: To quantify gait abnormalities in people with Dravet syndrome (DS). METHODS: Individuals with a confirmed diagnosis of DS were enrolled, and stratified according to knee flexion at initial contact (IC) and range of motion (ROM) during stance (atypical crouch: knee flexion >20° at IC and knee ROM >15° during stance; straight: knee flexion <20° at IC). A 1D ANOVA (α = 0.05) was used to test statistical differences among the joint kinematics and spatio-temporal parameters of the cohort and an age-matched control group. Clinical (neurological and orthopaedic evaluation) and anamnestic data (seizure type, drugs, genetic mutation) were collected; distribution between the two gait phenotypes was assessed with the Fisher exact test and, for mutation, with the chi-squared test (p < 0.05). Linear regression between maximum knee flexion and normalised walking speed was calculated. RESULTS: Seventy-one subjects were enrolled and evaluated with instrumented gait analysis. Fifty-two were included in final analysis (mean age 13.8 ± 7.3; M 26). Two gait patterns were detected: an atypical crouch gait (34.6%) with increased ankle, knee and hip flexion during stance, and reduced walking speed and stride length not associated with muscle-tendon retractions; and a pattern resembling those of healthy age-matched controls, but still showing reduced walking speed and stride length. No differences in clinical or anamnestic data emerged between the two groups. SIGNIFICANCE: Objectively quantified gait in DS shows two gait patterns with no clear-cut relation to clinical data. Kinematics abnormalities may be related to stabilization issues. These findings may guide rehabilitative and preventive measures.
Authors: Arunan Selvarajah; Carolina Gorodetsky; Paula Marques; Quratulain Zulfiqar Ali; Anne T Berg; Alfonso Fasano; Danielle M Andrade Journal: Neurology Date: 2022-04-13 Impact factor: 11.800