Progressive Gait Deterioration in Adolescents With Dravet Syndrome
Progressive Gait Deterioration in Adolescents With Dravet Syndrome
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DOI：
10.1001/archneurol.2011.3275
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发表时间：
2012-07-01
影响因子：
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通讯作者：
Graham, H. Kerr
中科院分区：
文献类型：
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作者：
Rodda, Jill M.;Scheffer, Ingrid E.;Graham, H. Kerr
目的：研究Drave型综合征患者步态随年龄变化的特征。设计：前瞻性横断面研究。地点：三级儿童医院。患者：26例Drave型综合征患者，年龄2~34岁。23例患者有钠通道α1亚单位基因突变。干预：通过视频步态分析、下肢体检、功能活动量表的使用以及骨盆和脚的X线片进行评估。主要观察指标：矢状步态模式和足部姿势的分类，肌肉伸展性和关节范围的评估，以及功能活动能力的分级。结果：0~5岁的儿童步态正常或接近正常，而6~12岁的10名儿童中有5名，13岁及以上的9名儿童中有8名有蹲伏步态。体格检查显示，随着年龄的增长，被动伸膝(P=.008)和髋关节伸展(P=.003)逐渐减少，胫骨外扭转(P=.007)和平面外翻(P=.05)逐渐增加，髋关节内旋度增加无明显的年龄相关性改变(P=.27)。功能活动量表显示5米和50米以上的独立行走普遍存在；然而，青少年在500米以上的评分差异很大，表明他们的活动范围从轮椅使用到独立行走(P=0.02)。结论：Dravet综合征儿童在第二个十年表现为进行性步态恶化，表现为蹲伏步态和骨骼排列不良，包括股骨颈前倾增加、胫骨外扭转和PES外翻。这些与年龄相关的变化对社区环境中的流动性和独立性产生了重大影响。
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 alpha 1 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.