Gait abnormalities in people with Dravet syndrome: A cross-sectional multi-center study

Roberto Di Marco, Ann Hallemans, Giulia Bellon, Francesca Ragona, Elena Piazza, Tiziana Granata, Berten Ceulemans, An-Sofie Schoonjans, Patricia Van de Walle, Francesca Darra, Bernardo Dalla Bernardina, Marilena Vecchi, Zimi Sawacha, Bruno Scarpa, Stefano Masiero, Maria Grazia Benedetti, Alessandra Del Felice

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)808-818
Number of pages11
JournalEuropean Journal of Paediatric Neurology
Issue number6
Early online dateSep 21 2019
Publication statusPublished - Nov 2019


  • SCN1A mutation
  • Gait analysis
  • Crouch gait
  • Comorbidity


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