Children With Fragile X Syndrome Display a Switch Towards Fast Fibres in Their Recruitment Strategy During Gait.
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 ident...
| Published in: | Journal of Intellectual Disability Research Vol. 69; no. 7; pp. 582 - 592 |
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| Main Authors: | , , , , , , , , |
| Format: | equations & formulas research tables/charts Journal Article |
| Published: |
Wiley-Blackwell
Jul2025
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| Online Access: | View this record in EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=186163504&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 186163504 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 09642633 EUL jtl: Journal of Intellectual Disability Research issn: 09642633 maglogo: Y pubinfo: dt: Jul2025 vid: 69 iid: 7 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 186163504 184295930 186163504 186163504 10.1111/jir.13238 186163504 ppf: 582 ppct: 10 formats: fmt: – @attributes: type: T – @attributes: type: C – @attributes: type: P tig: atl: Children With Fragile X Syndrome Display a Switch Towards Fast Fibres in Their Recruitment Strategy During Gait. aug: au: Spolaor, Fabiola Beghetti, Federica Piatkowska, Weronika Guiotto, Annamaria Polli, Roberta Bettella, Elisa Liani, Valentina di Giorgio, Elisa Sawacha, Zimi affil: Department of Women's and Children's Health, University of Padua, Padua, Italy sug: subj: Fragile X Syndrome Muscle Fibers Physiology Neural Transmission Gait Analysis Electromyography Methods Human Nerve Tissue Proteins Mutation Videorecording Gastrocnemius Muscle Tibialis Anterior Muscle Rectus Femoris Muscles Biceps Brachii Muscles Funding Source Musculoskeletal System Pathology Walking Speed Exercise Tolerance ab: 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. pubtype: Academic Journal doctype: equations & formulas research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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