ArticlePloS one2021
Assessment of the gut bacterial microbiome and metabolome of girls and women with Rett Syndrome.
Article in PloS one, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.
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Who cites it
14 citing papers in PubMed, 2 syntheses or guidelines pooled it, 21 citations in OpenAlex.
- Functional contribution of the intestinal microbiome in autism spectrum disorder, attention deficit hyperactivity disorder, and Rett syndrome: a systematic review of pediatric and adult studies.Frontiers in neuroscience · 2024Pooled it
- A systematic review on omics data (metagenomics, metatranscriptomics, and metabolomics) in the role of microbiome in gallbladder disease.Frontiers in physiology · 2022Pooled it
- A global literature review of comorbidities and concomitant supportive medications among individuals with Rett syndrome.Journal of comparative effectiveness research · 2026Review
- Early Gut Microbiota and Neurodevelopmental Trajectories: Implications for Pediatric Neuropsychiatric Vulnerability-A Narrative Review.Nutrients · 2026Review
- Harnessing the microbiota-gut-brain axis to prevent and treat pediatric neurodevelopmental disorders: translational insights and strategies.Journal of translational medicine · 2025Review
- The Microbiota-Gut-Brain Axis and Neurological Disorders: A Comprehensive Review.Life (Basel, Switzerland) · 2024Review
- Neurodevelopmental Disorders Associated with Gut Microbiome Dysbiosis in Children.Children (Basel, Switzerland) · 2024Review
- Gut microbiota profile in CDKL5 deficiency disorder patients.Scientific reports · 2024Article
- MECP2-related disorders while gene-based therapies are on the horizon.Frontiers in genetics · 2024Review
- Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders.Seminars in neurology · 2023Review
- Gut microbes in central nervous system development and related disorders.Frontiers in immunology · 2023Review
- Literature Cases Summarized Based on Their Polysomnographic Findings in Rett Syndrome.International journal of environmental research and public health · 2022Review
- Mechanisms underlying anxiety in Rett Syndrome: Translational insights from preclinical findings.Neuroscience applied · 2022Review
- Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGastrointestinal problems affect the health and quality of life of individuals with Rett syndrome (RTT) and pose a medical hardship for their caregivers. We hypothesized that the variability in the RTT phenotype contributes to the dysbiosis of the gut microbiome and metabolome in RTT, predisposing these individuals to gastrointestinal dysfunction.
objectivesWe characterized the gut bacterial microbiome and metabolome in girls and young women with RTT (n = 44) and unaffected controls (n = 21), and examined the relation between the composition of the microbiome and variations in the RTT phenotype.
methodsDemographics and clinical information, including growth and anthropometric measurements, pubertal status, symptoms, clinical severity score, bowel movement, medication use, and dietary intakes were collected from the participants. Fecal samples were collected for analysis of the gut microbiome using Illumina MiSeq-based next-generation sequencing of the 16S rRNA gene followed by bioinformatics analysis of microbial composition, diversity, and community structure. Selected end-products of microbial protein metabolism were characterized by liquid chromatography-mass spectrometry.
resultsThe gut bacterial microbiome differed within the RTT cohort based on pubertal status (p<0.02) and clinical severity scores (p<0.02) of the individuals and the type of diet (p<0.01) consumed. Although the composition of the gut microbiome did not differ between RTT and unaffected individuals, concentrations of protein end-products of the gut bacterial metabolome, including γ-aminobutyric acid (GABA) (p<0.001), tyrosine (p<0.02), and glutamate (p<0.06), were lower in the RTT cohort. Differences in the microbiome within RTT groups, based on symptomatic anxiety, hyperventilation, abdominal distention, or changes in stool frequency and consistency, were not detected.
conclusionsAlthough variability in the RTT phenotype contributes to the dysbiosis of the gut microbiome, we presently cannot infer causality between gut bacterial dysbiosis and gastrointestinal dysfunction. Nevertheless, alterations in the gut metabolome may provide clues to the pathophysiology of gastrointestinal problems in RTT.
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