Children With Fragile X Syndrome Display a Switch Towards Fast Fibres in Their Recruitment Strategy During Gait.

IF 2.1 2区医学 Q1 EDUCATION, SPECIAL

Journal of Intellectual Disability Research Pub Date : 2025-04-08 DOI:10.1111/jir.13238

Fabiola Spolaor, Federica Beghetti, Weronika Piatkowska, Annamaria Guiotto, Roberta Polli, Elisa Bettella, Valentina Liani, Elisa di Giorgio, Zimi Sawacha

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引用次数: 0

Abstract

Background: Fragile X Syndrome (FXS) is a genetic disorder caused by the lack of FMRP, a crucial protein for brain development and function. FMR1 mutations are categorized into premutation and full mutation (FXSFull), with somatic mosaicism (FXSMos) modulating the FXS phenotype. Recent studies identified muscle activity alterations during gait in FXS children. This study aims to explore the relationship between these muscle activity changes and motor fibre recruitment strategies during gait in FXS children.

Methods: Fifty-four FXS children and fourteen healthy controls participated in the study. Gait trials at self-selected speeds were recorded using four synchronized cameras and a surface electromyography system that captured bilateral activity of Gastrocnemius lateralis, Tibialis anterior, Rectus and Biceps femoris muscles. The continuous wavelet transform, using the 'bump' mother wavelet, provided the percentage distribution of signal energy across nine frequency bands (50-Hz increments within a 450- to 10-Hz spectrum) and the Instantaneous MeaN Frequency (IMNF) time-frequency distribution.

Results: Results indicated that both FXSFull and FXSMos children exhibit a distinct fibre recruitment strategy compared to controls, with a higher percentage of total energy and elevated IMNF (p < 0.05).

Conclusions: This increased reliance on fast-twitch fibres may contribute to the observed fatigability and exercise intolerance in FXS children.

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脆性X综合征儿童在步态过程中表现出向快速纤维招募策略的转变。

背景：脆性 X 综合征（FXS）是一种遗传性疾病，由缺乏 FMRP 引起，FMRP 是一种对大脑发育和功能至关重要的蛋白质。FMR1突变分为预突变和全突变（FXSFull），体细胞镶嵌（FXSMos）会改变FXS的表型。最近的研究发现，FXS 儿童在步态过程中的肌肉活动发生了改变。本研究旨在探讨这些肌肉活动变化与 FXS 儿童步态过程中运动纤维招募策略之间的关系：方法：54 名 FXS 儿童和 14 名健康对照者参加了研究。使用四台同步摄像机和表面肌电图系统记录了自选速度下的步态试验，该系统捕捉了腓肠肌外侧、胫骨前肌、直肌和股二头肌的双侧活动。使用 "凹凸 "母小波的连续小波变换提供了信号能量在九个频段（在 450 到 10Hz 的频谱内以 50Hz 为增量）的百分比分布以及瞬时平均频率（IMNF）的时频分布：结果表明，与对照组相比，FXSFull 和 FXSMos 儿童均表现出独特的纤维招募策略，总能量百分比更高，IMNF（p 结论：FXSFull 和 FXSMos 儿童对快速肌纤维的依赖性增加：FXS儿童对快速肌动纤维的依赖性增加，这可能是导致其易疲劳和运动不耐受的原因之一。

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

Journal of Intellectual Disability Research Multiple-

CiteScore

5.60

自引率

5.60%

发文量

期刊介绍： The Journal of Intellectual Disability Research is devoted exclusively to the scientific study of intellectual disability and publishes papers reporting original observations in this field. The subject matter is broad and includes, but is not restricted to, findings from biological, educational, genetic, medical, psychiatric, psychological and sociological studies, and ethical, philosophical, and legal contributions that increase knowledge on the treatment and prevention of intellectual disability and of associated impairments and disabilities, and/or inform public policy and practice. Expert reviews on themes in which recent research has produced notable advances will be included. Such reviews will normally be by invitation.