Srivastava Vandana, O'Reilly Christian
AI Institute, University of South Carolina, 5th floor, 1112 Greene St., Columbia, SC 29201, USA; Department of Computer Science and Engineering, University of South Carolina, 550 Assembly Street, Columbia, SC 29201, USA; Carolina Autism and Neurodevelopment Research Center, University of South Carolina, 1800 Gervais Street, Columbia, SC 29201, USA.
AI Institute, University of South Carolina, 5th floor, 1112 Greene St., Columbia, SC 29201, USA; Department of Computer Science and Engineering, University of South Carolina, 550 Assembly Street, Columbia, SC 29201, USA; Carolina Autism and Neurodevelopment Research Center, University of South Carolina, 1800 Gervais Street, Columbia, SC 29201, USA; Institute for Mind and Brain, University of South Carolina, 1800 Gervais Street, Columbia, SC 29201, USA.
Neurosci Biobehav Rev. 2025 Jul;174:106202. doi: 10.1016/j.neubiorev.2025.106202. Epub 2025 May 10.
Autism Spectrum Disorder (ASD) is a range of neurodevelopmental conditions characterized by impaired social interaction, learning, and restricted or repetitive behaviors. The underlying causes of ASD are still debated, but researchers have found many physiological traits like gut problems and impaired immune system to help understand the etiology of ASD. Cerebrospinal fluid (CSF) plays a critical role in maintaining the homeostasis of the neuronal environment and has, therefore, been analyzed in multiple conditions impacting the central nervous system. The study of CSF is crucial to understanding neurological disorders as its composition changes with the disorders, and these changes may indicate various disorder-related physiological mechanisms. For this systematic review, we searched PubMed, Scopus, and Web of Science for studies published between 1977 and 2025 and selected 49 studies after manual screening. We took stock of the evidence supporting the hypothesis that ASD alters the properties and composition of CSF. We systematically report on the different attributes of CSF in the ASD population that could be potential biomarkers and assist in understanding the origins and progression of ASD. We found that in CSF, immune markers, proteins, extra-axial CSF, folate, oxytocin, and vasopressin showed changes in ASD compared to the neurotypicals. We observed gaps in the literature due to variations in age and sample size and noted biases related to sex (i.e., samples are predominantly including male participants) and age (i.e., a handful of studies were conducted on adults). Our review highlights the need for more research on CSF in ASD to improve our understanding of this disorder and identify CSF biomarkers.
自闭症谱系障碍（ASD）是一系列神经发育病症，其特征为社交互动受损、学习障碍以及受限或重复行为。ASD的潜在病因仍存在争议，但研究人员已经发现了许多生理特征，如肠道问题和免疫系统受损，以帮助理解ASD的病因。脑脊液（CSF）在维持神经元环境的稳态中起着关键作用，因此，在多种影响中枢神经系统的病症中都对其进行了分析。对脑脊液的研究对于理解神经疾病至关重要，因为其成分会随着疾病而变化，这些变化可能表明各种与疾病相关的生理机制。在本系统综述中，我们在PubMed、Scopus和科学网中搜索了1977年至2025年发表的研究，并在人工筛选后选择了49项研究。我们评估了支持ASD会改变脑脊液特性和成分这一假设的证据。我们系统地报告了ASD人群中脑脊液的不同属性，这些属性可能是潜在的生物标志物，并有助于理解ASD的起源和进展。我们发现，与神经典型人群相比，ASD患者的脑脊液中免疫标志物、蛋白质、脑外脑脊液、叶酸、催产素和加压素出现了变化。由于年龄和样本量的差异，我们发现文献中存在空白，并注意到与性别（即样本主要包括男性参与者）和年龄（即少数研究是针对成年人进行的）相关的偏差。我们的综述强调了需要对ASD患者的脑脊液进行更多研究，以增进我们对这种疾病的理解并确定脑脊液生物标志物。
