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  • Population Study Article
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Burden and risk factors of autism spectrum disorder: global study and analysis

Abstract

Background

Autism spectrum disorder (ASD) is increasingly prevalent globally, making it vital to understand its patterns and contributing factors.

Methods

This study utilized Global Burden of Disease 2021 data to analyze ASD trends from 1990-2021 and project to 2030. Mendelian randomization (MR) was used to investigate links between ASD and brain characteristics, metabolism, blood markers, and gut bacteria.

Results

High-income Asia Pacific countries, notably Japan (299.14 per 100,000), exhibit the highest age-standardized disability-adjusted life year (DALY) rates. Our findings also show that as countries advance socially and economically, reported ASD rates tend to be higher (ρ = 0.57). The overall global impact of ASD, measured in DALYs, is predicted to rise by nearly 59% by 2030, largely driven by population growth. The MR analysis suggested connections between ASD risk and specific factors like the size of certain brain areas (e.g., the right parahippocampal gyrus), levels of particular metabolic substances (e.g., methionine sulfone), and the presence of certain gut bacteria (e.g., Bacteroides).

Conclusions

ASD is a growing global health concern with unequal community impact. Identifying potentially modifiable factors related to brain health, metabolism, and gut bacteria offers important clues for developing better strategies for ASD prevention, early diagnosis, and support.

Impact

  • Significant disparities in ASD burden exist, with the highest rates in high-income Asia Pacific nations.

  • Global ASD-attributable disability is projected to increase by 2030, posing an urgent public health issue.

  • Mendelian randomization suggests potential causal links between ASD risk and neural, metabolic, and gut microbiota factors.

  • This study provides updated global burden estimates and systematically explores modifiable biological factors for ASD, moving beyond prior observational research.

  • This study emphasizes the need for integrated strategies in ASD prevention, early detection, and intervention to address growing global burden.

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Fig. 1: Flowchart of the integrated two-pronged approach to analyze ASD burden and causal risk factors.
Fig. 2: Global epidemiological trends of ASD.
Fig. 3: Global epidemiological trends and projections of ASD.
Fig. 4: Mendelian randomization analysis of potential risk factors for ASD presented as circular heatmaps.

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Data availability

All data used in this study are publicly available. GBD data can be accessed through the Global Health Data Exchange (http://ghdx.healthdata.org/). GWAS summary statistics used for MR analyses are available through the respective consortia websites or public repositories.

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Acknowledgements

In the composition of this manuscript, we utilized data and methodologies derived from the GBD studies. This expansive network, known as the Global Burden of Disease Collaborator Network, is an amalgamation of over 3000 collaborators globally and is anchored at the Institute for Health Metrics and Evaluation (IHME). The generation of the estimates that underpin our research is indebted to the GBD’s resources and methodologies. We extend our gratitude to IHME for its pioneering efforts in global health and recognize the indispensable contributions of all collaborators, whose involvement was critical to the fruition of this report.

Funding

The work was supported by Science and Technology Planning Project of Liaoning Provincial (no. 2022JH2/10700002 and 2021JH1/10400049), STI 2030 - Major Projects (2022ZD0211500).

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Authors and Affiliations

Contributions

H.L. and J.S. contributed to the conceptualisation, project administration, supervision, and validation of this work. The tasks of data curation, formal analysis, investigation, methodology, visualisation, and the drafting of the original manuscript were performed by L.L. and Y.Z. The tasks of formal analysis, investigation, and visualisation of the original manuscript were performed by D.Z., Q.W., X.W. and F.C.

Corresponding authors

Correspondence to Jin Sun or Huanjie Li.

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This study was a secondary analysis based on data from multiple publicly available databases. All data utilized were de-identified and aggregated prior to access. Therefore, institutional review board approval and patient consent were not required for this study.

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Lin, L., Zhang, Y., Zhou, D. et al. Burden and risk factors of autism spectrum disorder: global study and analysis. Pediatr Res (2025). https://doi.org/10.1038/s41390-025-04641-6

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