Lopes Lara Teixeira, Rodrigues Jorge Magalhães, Baccarin Celeste, Oliveira Kevin, Abreu Manuela, Ribeiro Victor, Anastácio Zélia Caçador, Machado Jorge Pereira
Institute of Biomedical Sciences, University of Porto, 4099-030 Porto, Portugal.
Center of BioSciences in Integrative Health, 4200-355 Porto, Portugal.
Healthcare (Basel). 2022 Nov 2;10(11):2200. doi: 10.3390/healthcare10112200.
Autism spectrum disorder (ASD) is the most common neurodevelopmental disorder with a huge prevalence increasing every year (1/44 children). Still diagnosed as a mental disorder, the last 10 years of research found possible causes, risks, genetics, environmental triggers, epigenetics, metabolic, immunological, and neurophysiological unbalances as relevant aetiology. Umbrella methodology is the highest level of scientific evidence, designed to support clinical and political decisions. A literature search for autism aetiology, pathophysiology, or causes, conducted in the last 10 years, at PubMed, Embase, Cochrane, Scopus, and the Web of Science, resulted in six umbrella reviews. Nevertheless, only one quantitative analysis reported risk factors and biomarkers but excluded genetics, experiments on animal models, and post-mortem studies. We grouped ASD's multi-factorial causes and risks into five etiological categories: genetic, epigenetic, organic, psychogenic, and environmental. Findings suggest that autism might be evaluated as a systemic disorder instead of only through the lens of mental and behavioural. The overview implications of included studies will be qualitatively analysed under ROBIS and GRADE tools. This umbrella review can provide a rational basis for a new urgent health policy to develop better and adequate integrated care services for ASD. The methodological protocol has the register CRD42022348586 at PROSPERO.
自闭症谱系障碍（ASD）是最常见的神经发育障碍，其患病率每年都在大幅上升（每44名儿童中就有1名）。尽管仍被诊断为精神障碍，但过去10年的研究发现，可能的病因、风险、遗传学、环境触发因素、表观遗传学、代谢、免疫和神经生理失衡等都是相关病因。伞形综述方法是最高级别的科学证据，旨在支持临床和政策决策。在过去10年里，在PubMed、Embase、Cochrane、Scopus和科学网对自闭症病因、病理生理学或病因进行的文献检索，产生了6篇伞形综述。然而，只有一项定量分析报告了风险因素和生物标志物，但排除了遗传学、动物模型实验和尸检研究。我们将ASD的多因素病因和风险分为五个病因类别：遗传、表观遗传、器质性、心理性和环境性。研究结果表明，自闭症可能应被视为一种全身性疾病，而不仅仅是通过精神和行为的视角来评估。纳入研究的概述性影响将在ROBIS和GRADE工具下进行定性分析。这篇伞形综述可以为一项新的紧急卫生政策提供合理依据，以开发更好、更充分的ASD综合护理服务。该方法学方案在PROSPERO上的注册号为CRD42022348586。
