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Article

An Altered Gut Microbiota–Brain Axis in Fragile X Syndrome May Explain Autistic Traits in Some Patients

by
Yolanda de Diego-Otero
1,2,*,
Ana Bodoque-García
3,
Carolina Quintero-Navarro
2,4,
Rocío Calvo-Medina
2,5 and
José María Salgado-Cacho
2,6,*
1
Cellular Biology, Physiology and Immunology Department, University of Córdoba, 14071 Cordoba, Spain
2
ASPAINEA Association, 29003 Malaga, Spain
3
Faculty of Science, University of Málaga, 29010 Malaga, Spain
4
Faculty of Psychology, University of Málaga, 29010 Malaga, Spain
5
Paediatric Department, Regional University Maternal and Child Hospital, 29011 Malaga, Spain
6
Health Science Faculty, Universidad Isabel I, 09003 Burgos, Spain
*
Authors to whom correspondence should be addressed.
Psychiatry Int. 2025, 6(3), 107; https://doi.org/10.3390/psychiatryint6030107
Submission received: 9 May 2025 / Revised: 24 July 2025 / Accepted: 27 August 2025 / Published: 4 September 2025

Abstract

The gut microbiota plays an essential role in human health, influencing gut–brain communication. Imbalances in this microbial ecosystem, termed dysbiosis, have been associated with increased gut permeability and gastrointestinal symptoms commonly reported in autism spectrum disorder (ASD), without implying a direct causal role in ASD itself. This study aimed to determine whether alterations in gut microbiota exist in individuals with Fragile X Syndrome (FXS), with or without ASD, compared to ASD patients and neurotypical controls, and to identify microbiota biomarkers associated with these disorders. Stool samples from Caucasian individuals aged 3–18 years belonging to four groups (ASD, FXS, FXS + ASD, and controls) were analysed by amplifying the V3–V4 region of the bacterial 16S rRNA gene to characterize microbiota composition. Significant differences were found among patient groups compared to neurotypical controls, with notable similarities between the ASD and FXS + ASD groups. Additionally, specific microbiota biomarkers were identified for each patient group. These findings suggest that distinct microbiota alterations are associated with FXS and ASD, which may contribute to a more accurate characterization of symptoms in these disorders and could serve as potential biomarkers for assessing neurodevelopmental risk.
Keywords: Fragile X Syndrome; FXS; autism spectrum disorder; ASD; gut microbiota; 16S rRNA; gut permeability; biomarker Fragile X Syndrome; FXS; autism spectrum disorder; ASD; gut microbiota; 16S rRNA; gut permeability; biomarker

Share and Cite

MDPI and ACS Style

Diego-Otero, Y.d.; Bodoque-García, A.; Quintero-Navarro, C.; Calvo-Medina, R.; Salgado-Cacho, J.M. An Altered Gut Microbiota–Brain Axis in Fragile X Syndrome May Explain Autistic Traits in Some Patients. Psychiatry Int. 2025, 6, 107. https://doi.org/10.3390/psychiatryint6030107

AMA Style

Diego-Otero Yd, Bodoque-García A, Quintero-Navarro C, Calvo-Medina R, Salgado-Cacho JM. An Altered Gut Microbiota–Brain Axis in Fragile X Syndrome May Explain Autistic Traits in Some Patients. Psychiatry International. 2025; 6(3):107. https://doi.org/10.3390/psychiatryint6030107

Chicago/Turabian Style

Diego-Otero, Yolanda de, Ana Bodoque-García, Carolina Quintero-Navarro, Rocío Calvo-Medina, and José María Salgado-Cacho. 2025. "An Altered Gut Microbiota–Brain Axis in Fragile X Syndrome May Explain Autistic Traits in Some Patients" Psychiatry International 6, no. 3: 107. https://doi.org/10.3390/psychiatryint6030107

APA Style

Diego-Otero, Y. d., Bodoque-García, A., Quintero-Navarro, C., Calvo-Medina, R., & Salgado-Cacho, J. M. (2025). An Altered Gut Microbiota–Brain Axis in Fragile X Syndrome May Explain Autistic Traits in Some Patients. Psychiatry International, 6(3), 107. https://doi.org/10.3390/psychiatryint6030107

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