Progressive gait deterioration in adolescents with Dravet syndrome

Arch Neurol. 2012 Jul;69(7):873-8. doi: 10.1001/archneurol.2011.3275.

Abstract

Objective: To characterize changes in gait by age in patients with Dravet syndrome.

Design: Prospective, cross-sectional study.

Setting: Tertiary children's hospital.

Patients: Twenty-six subjects with Dravet syndrome, aged 2 to 34 years. Twenty-three patients had mutations of the sodium channel α1 subunit gene, SCN1A.

Interventions: Assessment via video gait analysis, physical examination of the lower limbs, use of the Functional Mobility Scale, and radiographs of the pelvis and feet.

Main outcome measures: Classification of the sagittal gait pattern and foot posture, assessment of muscle extensibility and joint range, and rating of functional mobility.

Results: Children aged 0 to 5 years had a normal or near-normal gait, whereas 5 of 10 children aged 6 to 12 years and 8 of 9 children aged 13 years or older had crouch gait. Physical examination showed that with increasing age, passive knee extension (P = .008) and hip extension (P = .003) decreased, external tibial torsion (P = .007) and pes planovalgus (P = .05) increased, and increased hip internal rotation did not show age-related change (P = .27). The Functional Mobility Scale showed universal independent walking over 5 and 50 m; however, adolescents showed wide variation in their ratings over 500 m, indicating mobility ranging from wheelchair use to independent walking (P = .02).

Conclusions: Children with Dravet syndrome show progressive gait deterioration in the second decade of life, with crouch gait and skeletal malalignment comprising increased femoral neck anteversion, external tibial torsion, and pes valgus. These age-related changes have a significant impact on mobility and independence in the community setting.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Child
  • Child, Preschool
  • Cross-Sectional Studies
  • Disability Evaluation
  • Disease Progression
  • Female
  • Gait Disorders, Neurologic / diagnosis
  • Gait Disorders, Neurologic / etiology*
  • Gait Disorders, Neurologic / genetics
  • Humans
  • Male
  • Mutation / genetics
  • Myoclonic Epilepsy, Juvenile / complications*
  • Myoclonic Epilepsy, Juvenile / genetics
  • NAV1.1 Voltage-Gated Sodium Channel / genetics
  • Physical Examination
  • Prospective Studies
  • Surveys and Questionnaires
  • Young Adult

Substances

  • NAV1.1 Voltage-Gated Sodium Channel
  • SCN1A protein, human