Abstract

BackgroundInfants suffer from a severe epileptic encephalopathy known as West syndrome (WS). Treatment with adrenocorticotropic hormone (ACTH) indicates the involvement of the gut-brain axis in WS. Several pieces of evidence show the communication of the gut microbiota (GM) with the brain via the hypothalamic–pituitary–adrenal axis (HPA axis) and blood cytokines. This study aimed at (1) determining the GM diversity in infants having WS and (2) comparing the results of infants having WS with those of the healthy infants and also in the patients with WS before and after the ACTH therapy.ResultsIn this study, 29 infants with WS and 29 healthy infants aged 3–13 months were recruited. Fecal samples were collected, and DNA was extracted and sequenced on the Illumina MiSeq platform. Kruskal-Wallis rank-sum test was used to analyze the between-group differences in the Chao1 index, Shannon index, and the abundances of GM at different taxonomy levels. R software was used to plot the graphs. The top five dominant GM genera between patients with WS and healthy infants showed no significant differences. However, the relative abundance of genus Akkermansia was observed to be significantly (P = 0.011) higher in the BT group than in the HC group and AT group. After 2 weeks of ACTH therapy, the relative abundance of Akkermansia significantly (P = 0.003) decreased.ConclusionThe relative abundance of Akkermansia was observed to be significantly higher in patients with WS than that in healthy infants. However, the relationship between Akkermansia and WS pathogenesis needs to be clarified in further studies.

Highlights

  • Infants suffer from a severe epileptic encephalopathy known as West syndrome (WS)

  • A severe epileptic encephalopathy observed in infants is known as the West syndrome (WS), which has an onset at the age of 3 months to 2 years and an incidence of 0.25 to 0.42 per 1000 lives

  • After the treatment with adrenocorticotropic hormone (ACTH), 15 (51.7%) patients (M:F = 10:5) were spasm-free, 12 (M:F = 8:4) (42.1%) patients had a 60–90% reduction in seizure frequency, and two patients (M:F = 2:0) were unresponsive

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Summary

Introduction

Infants suffer from a severe epileptic encephalopathy known as West syndrome (WS). Treatment with adrenocorticotropic hormone (ACTH) indicates the involvement of the gut-brain axis in WS. Several pieces of evidence show the communication of the gut microbiota (GM) with the brain via the hypothalamic–pituitary– adrenal axis (HPA axis) and blood cytokines. A severe epileptic encephalopathy observed in infants is known as the West syndrome (WS), which has an onset at the age of 3 months to 2 years and an incidence of 0.25 to 0.42 per 1000 lives. Xu et al BMC Microbiology (2021) 21:126 between the gut microbiota and WS as a representative epilepsy syndrome should be analyzed. The communication between gut microbiota (GM) and the brain involves the vagus nerve, HPA axis, gut immune system, and neurotransmitters synthesized by intestinal bacteria [1]. Earlier studies have mainly focused on psychiatric and neurological pathologies, including chronic pain [2], autism spectrum disorder [3], Parkinson’s disease [4], and multiple sclerosis [5]

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