Marangelo Chiara, Vernocchi Pamela, Del Chierico Federica, Scanu Matteo, Marsiglia Riccardo, Petrolo Emanuela, Fucà Elisa, Guerrera Silvia, Valeri Giovanni, Vicari Stefano, Putignani Lorenza
Research Unit of Microbiome, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Child and Adolescent Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Microorganisms. 2024 Oct 9;12(10):2041. doi: 10.3390/microorganisms12102041.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder. Investigations of gut microbiota (GM) play an important role in deciphering disease severity and symptoms. Overall, we stratified 70 ASD patients by neuropsychological assessment, based on Calibrated Severity Scores (CSSs) of the Autism Diagnostic Observation Schedule-Second edition (ADOS-2), Child Behavior Checklist (CBCL) and intelligent quotient/developmental quotient (IQ/DQ) parameters. Hence, metataxonomy and PICRUSt-based KEGG predictions of fecal GM were assessed for each clinical subset. Here, 60% of ASD patients showed mild to moderate autism, while the remaining 40% showed severe symptoms; 23% showed no clinical symptoms, 21% had a risk of behavior problems and 56% had clinical symptoms based on the CBCL, which assesses internalizing problems; further, 52% had no clinical symptoms, 21% showed risk, and 26% had clinical symptoms classified by CBCL externalizing problems. Considering the total CBCL index, 34% showed no clinical symptoms, 13% showed risk, and 52% had clinical symptoms. Here, 70% of ASD patients showed cognitive impairment/developmental delay (CI/DD). The GM of ASDs with severe autism was characterized by an increase in , a decrease in and a higher microbial dysbiosis index (MDI) when compared to mild-moderate ASDs. Patients at risk for behavior problems and showing clinical symptoms were characterized by a GM with an increase of , , , , , , and , respectively. Peptidoglycan biosynthesis and biofilm formation KEGGs characterized patients with clinical symptoms, while potential microbiota-activated PPAR-γ-signaling was seen in CI/DD patients. This evidence derived from GM profiling may be used to further improve ASD understanding, leasing to a better comprehension of the neurological phenotype.
自闭症谱系障碍（ASD）是一种神经发育障碍。肠道微生物群（GM）的研究在解读疾病严重程度和症状方面发挥着重要作用。总体而言，我们根据自闭症诊断观察量表第二版（ADOS-2）的校准严重程度评分（CSS）、儿童行为检查表（CBCL）以及智商/发育商（IQ/DQ）参数，通过神经心理学评估对70名ASD患者进行了分层。因此，对每个临床亚组的粪便GM进行了宏分类学和基于PICRUSt的KEGG预测评估。在此，60%的ASD患者表现为轻度至中度自闭症，而其余40%表现为严重症状；23%无临床症状，21%有行为问题风险，56%根据评估内化问题的CBCL有临床症状；此外，52%无临床症状，21%有风险，26%根据CBCL外化问题分类有临床症状。考虑到CBCL总指数，34%无临床症状，13%有风险，52%有临床症状。在此，70%的ASD患者表现出认知障碍/发育迟缓（CI/DD）。与轻度至中度ASD相比，重度自闭症ASD的GM特征是 增加、 减少以及微生物失调指数（MDI）更高。有行为问题风险并表现出临床症状的患者，其GM特征分别是 、 、 、 、 、 、 增加。肽聚糖生物合成和生物膜形成KEGGs是有临床症状患者的特征，而在CI/DD患者中可见潜在的微生物群激活的PPAR-γ信号通路。来自GM分析的这一证据可用于进一步增进对ASD的理解，从而更好地理解神经表型。
