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 journalArticle

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.

Original languageEnglish
JournalEuropean Journal of Paediatric Neurology
DOIs
Publication statusE-pub ahead of print - Sep 21 2019

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Myoclonic Epilepsy
Gait
Knee
Articular Range of Motion
Biomechanical Phenomena
Mutation
Ankle
Tendons
Orthopedics
Hip
Linear Models
Analysis of Variance
Seizures
Research Design
Joints
Phenotype
Muscles
Control Groups

Keywords

  • SCN1A mutation
  • Gait analysis
  • Crouch gait
  • Comorbidity

Cite this

Gait abnormalities in people with Dravet syndrome: A cross-sectional multi-center study. / Di Marco, Roberto; Hallemans, Ann; Bellon, Giulia; Ragona, Francesca; Piazza, Elena; Granata, Tiziana; Ceulemans, Berten; Schoonjans, An-Sofie; Van de Walle, Patricia; Darra, Francesca; Dalla Bernardina, Bernardo; Vecchi, Marilena; Sawacha, Zimi; Scarpa, Bruno; Masiero, Stefano; Benedetti, Maria Grazia; Del Felice, Alessandra.

In: European Journal of Paediatric Neurology, 21.09.2019.

Research output: Contribution to journalArticle

Di Marco, R, Hallemans, A, Bellon, G, Ragona, F, Piazza, E, Granata, T, Ceulemans, B, Schoonjans, A-S, Van de Walle, P, Darra, F, Dalla Bernardina, B, Vecchi, M, Sawacha, Z, Scarpa, B, Masiero, S, Benedetti, MG & Del Felice, A 2019, 'Gait abnormalities in people with Dravet syndrome: A cross-sectional multi-center study', European Journal of Paediatric Neurology. https://doi.org/10.1016/j.ejpn.2019.09.010
Di Marco, Roberto ; Hallemans, Ann ; Bellon, Giulia ; Ragona, Francesca ; Piazza, Elena ; Granata, Tiziana ; Ceulemans, Berten ; Schoonjans, An-Sofie ; Van de Walle, Patricia ; Darra, Francesca ; Dalla Bernardina, Bernardo ; Vecchi, Marilena ; Sawacha, Zimi ; Scarpa, Bruno ; Masiero, Stefano ; Benedetti, Maria Grazia ; Del Felice, Alessandra. / Gait abnormalities in people with Dravet syndrome: A cross-sectional multi-center study. In: European Journal of Paediatric Neurology. 2019.
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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.",
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T1 - Gait abnormalities in people with Dravet syndrome: A cross-sectional multi-center study

AU - Di Marco, Roberto

AU - Hallemans, Ann

AU - Bellon, Giulia

AU - Ragona, Francesca

AU - Piazza, Elena

AU - Granata, Tiziana

AU - Ceulemans, Berten

AU - Schoonjans, An-Sofie

AU - Van de Walle, Patricia

AU - Darra, Francesca

AU - Dalla Bernardina, Bernardo

AU - Vecchi, Marilena

AU - Sawacha, Zimi

AU - Scarpa, Bruno

AU - Masiero, Stefano

AU - Benedetti, Maria Grazia

AU - Del Felice, Alessandra

N1 - Copyright © 2019 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

PY - 2019/9/21

Y1 - 2019/9/21

N2 - 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.

AB - 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.

KW - SCN1A mutation

KW - Gait analysis

KW - Crouch gait

KW - Comorbidity

U2 - 10.1016/j.ejpn.2019.09.010

DO - 10.1016/j.ejpn.2019.09.010

M3 - Article

C2 - 31582194

JO - European Journal of Paediatric Neurology

JF - European Journal of Paediatric Neurology

SN - 1090-3798

ER -