Gait abnormalities in children with FOXP1 syndrome: A case series.

IF 0.8 Q4 PEDIATRICS
Laura M Breij, Eveline B Boeker, Bregje Jaeger, Annemieke I Buizer
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引用次数: 0

Abstract

FOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions in the Forkhead Box Protein 1 (FOXP1) gene. It is characterized by intellectual disabilities, language difficulties, autism spectrum disorder, congenital anomalies and motor impairments.Walking difficulties have been reported, but specific gait impairments have not previously been described. In this case series, specific gait abnormalities, and how they were managed, are reported in three children with FOXP1 syndrome. The most prominent clinical abnormalities in their gait and gait analysis were toe walking with increased plantar flexion, and knee and hip flexion in midstance. All children had premature activation of the calf muscles. In two of the three children, spasticity in the calf muscles and contractures of ankles and knees were found, which could explain these abnormalities in their gait.

FOXP1综合征患儿步态异常:一个病例系列。
FOXP1综合征是一种由叉头盒蛋白1 (FOXP1)基因突变或缺失引起的神经发育障碍。它的特点是智力障碍、语言障碍、自闭症谱系障碍、先天性异常和运动障碍。行走困难已被报道,但具体的步态障碍以前没有描述过。在这个病例系列中,具体的步态异常,以及他们是如何管理的,报告了三个FOXP1综合征的儿童。在他们的步态和步态分析中最突出的临床异常是脚趾走路时足底弯曲增加,膝盖和臀部在中间弯曲。所有的孩子都有小腿肌肉的过早激活。在三个孩子中,有两个发现小腿肌肉痉挛,脚踝和膝盖挛缩,这可以解释他们步态的异常。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
2.30
自引率
5.30%
发文量
139
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