Alba Claudio, Herranz Carmen, Monroy Miguel A, Aragón Alberto, Jurado Rubén, Díaz-Regañón David, Sánchez César, Tolín Mar, Miranda Carmen, Gómez-Taylor Bárbara, Sempere Francisca, Álvarez-Calatayud Guillermo, Rodríguez Juan M
Department Nutrition and Food Science, Complutense University of Madrid, 28040 Madrid, Spain.
Instituto Pluridisciplinar, Complutense University of Madrid, 28040 Madrid, Spain.
Microorganisms. 2024 Oct 2;12(10):2006. doi: 10.3390/microorganisms12102006.
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by a developmental delay and autism spectrum disorder (ASD)-like behaviors. Emerging research suggests 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 compared to 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 in the gut microbiota composition between PMS patients and controls, including a lower abundance of key bacterial genera such as and in PMS patients. SCFA levels were also reduced 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 findings indicate 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 results suggest potential avenues for microbiota-targeted therapies in PMS.
费兰-麦克德米德综合征（PMS）是一种神经发育障碍，其特征为发育迟缓以及类似自闭症谱系障碍（ASD）的行为。新出现的研究表明肠道微生物群与包括PMS在内的神经精神疾病之间存在联系。本研究旨在调查与健康对照相比，PMS患儿的粪便微生物群和免疫谱。从诊断为PMS的儿童和年龄匹配的健康对照中收集粪便样本。使用16S rRNA基因测序分析细菌组成，同时通过气相色谱法定量短链脂肪酸（SCFA）。使用多重细胞因子检测进行免疫分析。在PMS患者和对照之间观察到肠道微生物群组成存在显著差异，包括PMS患者中某些关键细菌属（如 和 ）的丰度较低。PMS患者的SCFA水平也降低。免疫分析显示PMS组中几种促炎细胞因子水平较高，尽管这些差异无统计学意义。研究结果表明，PMS患儿具有独特的肠道微生物群和SCFA谱，这可能导致该综合征中观察到的胃肠道和神经发育症状。这些结果提示了PMS中以微生物群为靶点的治疗的潜在途径。
