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自闭症功能连接组生物标志物发现途径的描绘。

Delineating a Pathway for the Discovery of Functional Connectome Biomarkers of Autism.

机构信息

Child Mind Institute, Autism Center, New York, NY, USA.

Child Mind Institute, Center for Data Analytics, Innovation, and Rigor, New York, NY, USA.

出版信息

Adv Neurobiol. 2024;40:511-544. doi: 10.1007/978-3-031-69491-2_18.


DOI:10.1007/978-3-031-69491-2_18
PMID:39562456
Abstract

The promise of individually tailored care for autism has driven efforts to establish biomarkers. This chapter appraises the state of precision-medicine research focused on biomarkers based on the functional brain connectome. This work is grounded on abundant evidence supporting the brain dysconnection model of autism and the advantages of resting-state functional MRI (R-fMRI) for studying the brain in vivo. After considering biomarker requirements of consistency and clinical relevance, we provide a scoping review of R-fMRI studies of individual prediction in autism. In the past 10 years, responding to the availability of open data through the Autism Brain Imaging Data Exchange, machine learning studies have surged. Nearly all have focused on diagnostic label classification. These efforts have shown that autism prediction is feasible using functional connectome markers, with accuracy reported well above chance. In parallel, emerging approaches more directly addressing autism heterogeneity are paving the way for much-needed biomarkers of longitudinal outcome and treatment response. We conclude with key challenges to be addressed by the next generation of studies.

摘要

自闭症个体化治疗的前景推动了生物标志物的研究。本章评估了基于功能脑连接组学的精准医学研究的现状。这项工作的基础是大量支持自闭症大脑连接异常模型的证据,以及静息态功能磁共振成像(R-fMRI)在研究活体大脑方面的优势。在考虑了生物标志物的一致性和临床相关性的要求之后,我们对自闭症个体预测的 R-fMRI 研究进行了范围性综述。在过去的 10 年中,通过自闭症脑成像数据交换(Autism Brain Imaging Data Exchange)提供的开放数据,机器学习研究如雨后春笋般涌现。几乎所有的研究都集中在诊断标签分类上。这些研究表明,使用功能连接组学标志物进行自闭症预测是可行的,其准确性远远超过了随机水平。与此同时,新兴的方法更直接地解决自闭症的异质性问题,为急需的纵向结局和治疗反应的生物标志物铺平了道路。最后,我们总结了下一代研究需要解决的关键挑战。

相似文献

[1]
Delineating a Pathway for the Discovery of Functional Connectome Biomarkers of Autism.

Adv Neurobiol. 2024

[2]
Deriving reproducible biomarkers from multi-site resting-state data: An Autism-based example.

Neuroimage. 2016-11-16

[3]
Functional Connectome-Based Predictive Modeling in Autism.

Biol Psychiatry. 2022-10-15

[4]
Distributed Intrinsic Functional Connectivity Patterns Predict Diagnostic Status in Large Autism Cohort.

Brain Connect. 2017-10

[5]
Diagnosis-informed connectivity subtyping discovers subgroups of autism with reproducible symptom profiles.

Neuroimage. 2022-8-1

[6]
White Matter Connectome Edge Density in Children with Autism Spectrum Disorders: Potential Imaging Biomarkers Using Machine-Learning Models.

Brain Connect. 2019-3

[7]
Contracted functional connectivity profiles in autism.

Mol Autism. 2024-9-11

[8]
Aberrant hemodynamic responses in autism: Implications for resting state fMRI functional connectivity studies.

Neuroimage Clin. 2018-4-13

[9]
Progress and roadblocks in the search for brain-based biomarkers of autism and attention-deficit/hyperactivity disorder.

Transl Psychiatry. 2017-8-22

[10]
Whole-brain structural connectome asymmetry in autism.

Neuroimage. 2024-3

引用本文的文献

[1]
Cognitive Brain Networks and Enlarged Perivascular Spaces: Implications for Symptom Severity and Support Needs in Children with Autism.

J Clin Med. 2025-4-27

[2]
What is the best brain state to predict autistic traits?

medRxiv. 2025-1-17

本文引用的文献

[1]
Early Identification of Autism Spectrum Disorder Among Children Aged 4 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2020.

MMWR Surveill Summ. 2023-3-24

[2]
Molecular and network-level mechanisms explaining individual differences in autism spectrum disorder.

Nat Neurosci. 2023-4

[3]
Autism Spectrum Disorder: A Review.

JAMA. 2023-1-10

[4]
In Search of Biomarkers to Guide Interventions in Autism Spectrum Disorder: A Systematic Review.

Am J Psychiatry. 2023-1-1

[5]
Functional connectivity subtypes associate robustly with ASD diagnosis.

Elife. 2022-11-29

[6]
Scale matters: The nested human connectome.

Science. 2022-11-4

[7]
Broad transcriptomic dysregulation occurs across the cerebral cortex in ASD.

Nature. 2022-11

[8]
Identification of Young High-Functioning Autism Individuals Based on Functional Connectome Using Graph Isomorphism Network: A Pilot Study.

Brain Sci. 2022-7-5

[9]
Sparse Hierarchical Representation Learning on Functional Brain Networks for Prediction of Autism Severity Levels.

Front Neurosci. 2022-7-7

[10]
A guided multiverse study of neuroimaging analyses.

Nat Commun. 2022-6-29

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