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自闭症表型项目:迈向识别具有临床意义的自闭症亚组

The Autism Phenome Project: Toward Identifying Clinically Meaningful Subgroups of Autism.

作者信息

Nordahl Christine Wu, Andrews Derek Sayre, Dwyer Patrick, Waizbard-Bartov Einat, Restrepo Bibiana, Lee Joshua K, Heath Brianna, Saron Clifford, Rivera Susan M, Solomon Marjorie, Ashwood Paul, Amaral David G

机构信息

MIND Institute, University of California, Davis, Davis, CA, United States.

Department of Psychiatry and Behavioral Sciences, School of Medicine, University of California, Davis, Davis, CA, United States.

出版信息

Front Neurosci. 2022 Jan 17;15:786220. doi: 10.3389/fnins.2021.786220. eCollection 2021.

DOI:10.3389/fnins.2021.786220
PMID:35110990
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8801875/
Abstract

One of the most universally accepted facts about autism is that it is heterogenous. Individuals diagnosed with autism spectrum disorder have a wide range of behavioral presentations and a variety of co-occurring medical and mental health conditions. The identification of more homogenous subgroups is likely to lead to a better understanding of etiologies as well as more targeted interventions and treatments. In 2006, we initiated the UC Davis MIND Institute Autism Phenome Project (APP) with the overarching goal of identifying clinically meaningful subtypes of autism. This ongoing longitudinal multidisciplinary study now includes over 400 children and involves comprehensive medical, behavioral, and neuroimaging assessments from early childhood through adolescence (2-19 years of age). We have employed several strategies to identify sub-populations within autistic individuals: subgrouping by neural, biological, behavioral or clinical characteristics as well as by developmental trajectories. In this Mini Review, we summarize findings to date from the APP cohort and describe progress made toward identifying meaningful subgroups of autism.

摘要

关于自闭症,最普遍被接受的事实之一是它具有异质性。被诊断患有自闭症谱系障碍的个体有广泛的行为表现以及各种共病的医学和心理健康状况。识别出更具同质性的亚组可能会带来对病因的更好理解以及更有针对性的干预和治疗。2006年,我们启动了加州大学戴维斯分校MIND研究所自闭症表型项目(APP),其总体目标是识别自闭症具有临床意义的亚型。这项正在进行的纵向多学科研究目前包括400多名儿童,涉及从幼儿期到青春期(2至19岁)的全面医学、行为和神经影像学评估。我们采用了几种策略来识别自闭症个体中的亚群体:按神经、生物学、行为或临床特征以及发育轨迹进行分组。在本综述中,我们总结了迄今为止APP队列的研究结果,并描述了在识别有意义的自闭症亚组方面所取得的进展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc47/8801875/021d09750ea0/fnins-15-786220-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc47/8801875/1b9ffc28a1c1/fnins-15-786220-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc47/8801875/021d09750ea0/fnins-15-786220-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc47/8801875/1b9ffc28a1c1/fnins-15-786220-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc47/8801875/021d09750ea0/fnins-15-786220-g002.jpg

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Exploring Sensory Subgroups in Typical Development and Autism Spectrum Development Using Factor Mixture Modelling.使用因子混合建模探索典型发育和自闭症谱系发育中的感觉亚群。
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Using Clustering to Examine Inter-individual Variability in Topography of Auditory Event-Related Potentials in Autism and Typical Development.
产后胰岛素样生长因子-1(IGF-1)水平双相失调在特发性自闭症谱系障碍病因学中的可能作用
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mA-mRNA Reader YTHDF2 Identified as a Potential Risk Gene in Autism With Disproportionate Megalencephaly.mA-信使核糖核酸阅读器YTHDF2被鉴定为大头畸形比例失调的自闭症潜在风险基因。
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