%0 Journal Article
%A Alba Rubio, Claudio
%A Herranz Sorribes, Carmen
%A Monroy, Miguel A
%A Aragón, Alberto
%A Jurado Escobar, Rubén
%A Díaz-Regañón Fernández, David Rafael
%A Sánchez,  César
%A Tolín, Mar
%A Miranda, Carmen
%A Gómez-Taylor, Bárbara
%A Sempere, Francisca
%A Álvarez Calatayud, Guillermo
%A Rodríguez Gómez, Juan Miguel
%T Metataxonomic and Immunological Analysis of Feces from Children with or without Phelan-McDermid Syndrome
%D 2024
%U https://hdl.handle.net/20.500.14352/110372
%X Phelan–McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by a developmental delay and autism spectrum disorder (ASD)-like behaviors. Emerging researchsuggests a link between gut microbiota and neuropsychiatric conditions, including PMS. This study aimed to investigate the fecal microbiota and immune profiles of children with PMS comparedto healthy controls. Fecal samples were collected from children diagnosed with PMS and age matched healthy controls. The bacterial composition was analyzed using 16S rRNA gene sequencing,while short-chain fatty acids (SCFAs) were quantified through gas chromatography. Immunological profiling was conducted using a multiplex cytokine assay. Significant differences were observed inthe gut microbiota composition between PMS patients and controls, including a lower abundance of key bacterial genera such as Faecalibacterium and Agathobacter in PMS patients. SCFA levels were alsoreduced in PMS patients. Immunological analysis revealed higher levels of several pro-inflammatory cytokines in the PMS group, although these differences were not statistically significant. The findingsindicate that children with PMS have distinct gut microbiota and SCFA profiles, which may contribute to the gastrointestinal and neurodevelopmental symptoms observed in this syndrome. These resultssuggest potential avenues for microbiota-targeted therapies in PMS.
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