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Serum Metabolic and Gut Microbiome Differences in Age-Associated Fragile X Syndrome (FXS) Pediatric Patients May
Xiaqing Han1, Jianen Zhu1, Wenying Zhao1
1Department of Pediatrics, Peking University First Hospital, Xicheng District, Beijing, 100034, People's Republic of China.
Insights
Metabolic and gut microbiome differences were found in children with Fragile X syndrome (FXS) based on age. These changes correlate with behavioral outcomes, suggesting new avenues for FXS management.
Area of Science:
- Neuroscience
- Metabolomics
- Microbiome research
Background:
- Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder.
- Previous research has focused on genetics, neglecting metabolism and gut microbiome roles.
- The gut microbiome and metabolic profiles in FXS are underexplored.
Purpose of the Study:
- Investigate age-related metabolic differences in gut flora and serum metabolites in children with FXS.
- Examine associations between metabolic changes, gut microbiota, and clinical behavioral outcomes.
- Explore potential metabolic underpinnings and therapeutic targets for FXS.
Main Methods:
- Analyzed gut microbiota using 16S rDNA gene sequencing in 32 children with FXS (3-18 years).
- Assessed serum metabolite profiles using UPLC-MS.
- Correlated gut flora, metabolites, and behavioral scores (SRS, CBCL) using Spearman analysis.
Main Results:
- Identified significant age-related differences in gut bacterial genera and 1,352 serum metabolites.
- Older children with FXS showed higher phospholipids, steroids, and peptides, with enriched steroid hormone biosynthesis.
- Specific metabolites correlated with SRS and CBCL scores, linking metabolic alterations to behavioral symptoms.
Conclusions:
- Age-associated metabolic and gut microbiota changes are present in FXS.
- These alterations may influence clinical presentation and behavioral outcomes.
- Findings support a metabolic basis for FXS and suggest potential for microbiome-targeted interventions.
Background:
Fragile X syndrome (FXS) is a rare, genetically based neurodevelopmental disorder characterized by intellectual disability. While previous research has largely focused on its genetic mechanisms, the role of metabolism and the gut microbiome in FXS remains underexplored. This study aimed to investigate age-related metabolic differences in the gut flora and serum metabolites of children with FXS and their associations with clinical behavioral outcomes.
Methods:
A total of 32 children with FXS under 18 years were enrolled and divided into two age groups: younger (3-8 years) and older (8-18 years). Intestinal microbiota composition was analyzed using 16S rDNA gene sequencing, and serum metabolite profiles were assessed via ultra-performance liquid chromatography-mass spectrometry (UPLC-MS). Spearman correlation analysis was used to assess associations among gut flora, serum metabolites, and scores from the Social Responsiveness Scale (SRS) and Child Behavior Checklist (CBCL).
Results:
Significant differences in gut bacterial genera and 1,352 serum metabolites were observed between the age groups. The older group exhibited higher levels of phospholipids, steroids, and peptides, and enrichment in the steroid hormone biosynthesis pathway. Several metabolites were significantly correlated with SRS and CBCL scores, indicating potential links between metabolic changes and behavioral symptoms.
Conclusion:
Age-associated metabolic and gut microbiota alterations in FXS may contribute to variations in clinical presentation. These findings suggest a metabolic basis for FXS and provide a foundation for future research into microbiome-targeted interventions in FXS management.
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