Assessment of Neuroanatomical Endophenotypes of Autism Spectrum Disorder and Association With Characteristics of Individuals With Schizophrenia and the General Population

内表型 自闭症谱系障碍 生命银行 自闭症 神经影像学 精神分裂症(面向对象编程) 人口 队列 心理学 临床心理学 精神科 医学 生物信息学 病理 生物 认知 环境卫生
作者
Gyujoon Hwang,Junhao Wen,Susan Sotardi,Edward S. Brodkin,Ganesh B. Chand,Dominic Dwyer,Güray Erus,Jimit Doshi,Pankhuri Singhal,Dhivya Srinivasan,Erdem Varol,Aristeidis Sotiras,Paola Dazzan,René S. Kahn,Hugo G. Schnack,Marcus V. Zanetti,Eva Meisenzahl,Geraldo F. Busatto,Benedicto Crespo‐Facorro,Christos Pantelis,Stephen J. Wood,Chuanjun Zhuo,Russell T. Shinohara,Haochang Shou,Yong Fan,Adriana Di Martino,Nikolaos Koutsouleris,Raquel E. Gur,Ruben C. Gur,Theodore D. Satterthwaite,Daniel H. Wolf,Christos Davatzikos
出处
期刊:JAMA Psychiatry [American Medical Association]
卷期号:80 (5): 498-498 被引量:12
标识
DOI:10.1001/jamapsychiatry.2023.0409
摘要

Autism spectrum disorder (ASD) is associated with significant clinical, neuroanatomical, and genetic heterogeneity that limits precision diagnostics and treatment.To assess distinct neuroanatomical dimensions of ASD using novel semisupervised machine learning methods and to test whether the dimensions can serve as endophenotypes also in non-ASD populations.This cross-sectional study used imaging data from the publicly available Autism Brain Imaging Data Exchange (ABIDE) repositories as the discovery cohort. The ABIDE sample included individuals diagnosed with ASD aged between 16 and 64 years and age- and sex-match typically developing individuals. Validation cohorts included individuals with schizophrenia from the Psychosis Heterogeneity Evaluated via Dimensional Neuroimaging (PHENOM) consortium and individuals from the UK Biobank to represent the general population. The multisite discovery cohort included 16 internationally distributed imaging sites. Analyses were performed between March 2021 and March 2022.The trained semisupervised heterogeneity through discriminative analysis models were tested for reproducibility using extensive cross-validations. It was then applied to individuals from the PHENOM and the UK Biobank. It was hypothesized that neuroanatomical dimensions of ASD would display distinct clinical and genetic profiles and would be prominent also in non-ASD populations.Heterogeneity through discriminative analysis models trained on T1-weighted brain magnetic resonance images of 307 individuals with ASD (mean [SD] age, 25.4 [9.8] years; 273 [88.9%] male) and 362 typically developing control individuals (mean [SD] age, 25.8 [8.9] years; 309 [85.4%] male) revealed that a 3-dimensional scheme was optimal to capture the ASD neuroanatomy. The first dimension (A1: aginglike) was associated with smaller brain volume, lower cognitive function, and aging-related genetic variants (FOXO3; Z = 4.65; P = 1.62 × 10-6). The second dimension (A2: schizophrenialike) was characterized by enlarged subcortical volumes, antipsychotic medication use (Cohen d = 0.65; false discovery rate-adjusted P = .048), partially overlapping genetic, neuroanatomical characteristics to schizophrenia (n = 307), and significant genetic heritability estimates in the general population (n = 14 786; mean [SD] h2, 0.71 [0.04]; P < 1 × 10-4). The third dimension (A3: typical ASD) was distinguished by enlarged cortical volumes, high nonverbal cognitive performance, and biological pathways implicating brain development and abnormal apoptosis (mean [SD] β, 0.83 [0.02]; P = 4.22 × 10-6).This cross-sectional study discovered 3-dimensional endophenotypic representation that may elucidate the heterogeneous neurobiological underpinnings of ASD to support precision diagnostics. The significant correspondence between A2 and schizophrenia indicates a possibility of identifying common biological mechanisms across the 2 mental health diagnoses.
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
大幅提高文件上传限制,最高150M (2024-4-1)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
1秒前
爆米花应助孤巷的猫采纳,获得10
2秒前
子车远航发布了新的文献求助10
2秒前
不懂事的小屁孩儿完成签到 ,获得积分10
3秒前
3秒前
3秒前
5秒前
树池应助武雨寒采纳,获得10
6秒前
性感的孤狼完成签到,获得积分10
6秒前
6秒前
jansorchen完成签到,获得积分10
7秒前
852应助HOME采纳,获得30
8秒前
9秒前
啊哈哈哈发布了新的文献求助10
9秒前
子车远航完成签到,获得积分10
9秒前
10秒前
benoit发布了新的文献求助10
11秒前
结实大白应助qnd采纳,获得10
11秒前
luqi发布了新的文献求助10
12秒前
14秒前
zjzjzj123完成签到 ,获得积分10
14秒前
结实的人英完成签到,获得积分10
17秒前
雾蓝完成签到,获得积分10
18秒前
19秒前
雨佳人圭完成签到,获得积分20
20秒前
junyang发布了新的文献求助10
21秒前
21秒前
21秒前
wy完成签到,获得积分10
22秒前
24秒前
25秒前
lutos发布了新的文献求助10
27秒前
HOME发布了新的文献求助30
27秒前
ephore应助湖里采纳,获得50
27秒前
xq完成签到,获得积分10
29秒前
小蘑菇应助武雨寒采纳,获得10
30秒前
luqi完成签到,获得积分10
30秒前
乐乐应助junyang采纳,获得10
31秒前
wy发布了新的文献求助10
31秒前
wq完成签到,获得积分10
32秒前
高分求助中
Sustainability in Tides Chemistry 1500
TM 5-855-1(Fundamentals of protective design for conventional weapons) 1000
Threaded Harmony: A Sustainable Approach to Fashion 799
Livre et militantisme : La Cité éditeur 1958-1967 500
Retention of title in secured transactions law from a creditor's perspective: A comparative analysis of selected (non-)functional approaches 500
"Sixth plenary session of the Eighth Central Committee of the Communist Party of China" 400
New China Forges Ahead: Important Documents of the Third Session of the First National Committee of the Chinese People's Political Consultative Conference 400
热门求助领域 (近24小时)
化学 医学 生物 材料科学 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 基因 遗传学 催化作用 物理化学 免疫学 量子力学 细胞生物学
热门帖子
关注 科研通微信公众号,转发送积分 3056197
求助须知:如何正确求助?哪些是违规求助? 2712820
关于积分的说明 7433125
捐赠科研通 2357792
什么是DOI,文献DOI怎么找? 1249053
科研通“疑难数据库(出版商)”最低求助积分说明 606843
版权声明 596195