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年度研究综述:自闭症谱系中研究不足的人群——神经影像学研究的当前趋势与未来方向

Annual Research Review: Understudied populations within the autism spectrum - current trends and future directions in neuroimaging research.

作者信息

Jack Allison, A Pelphrey Kevin

机构信息

Autism and Neurodevelopmental Disorders Institute, The George Washington University, Ashburn, VA, USA.

Department of Pharmacology and Physiology, The George Washington University, Washington, DC, USA.

出版信息

J Child Psychol Psychiatry. 2017 Apr;58(4):411-435. doi: 10.1111/jcpp.12687. Epub 2017 Jan 19.

Abstract

BACKGROUND

Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental conditions that vary in both etiology and phenotypic expression. Expressions of ASD characterized by a more severe phenotype, including autism with intellectual disability (ASD + ID), autism with a history of developmental regression (ASD + R), and minimally verbal autism (ASD + MV) are understudied generally, and especially in the domain of neuroimaging. However, neuroimaging methods are a potentially powerful tool for understanding the etiology of these ASD subtypes.

SCOPE AND METHODOLOGY

This review evaluates existing neuroimaging research on ASD + MV, ASD + ID, and ASD + R, identified by a search of the literature using the PubMed database, and discusses methodological, theoretical, and practical considerations for future research involving neuroimaging assessment of these populations.

FINDINGS

There is a paucity of neuroimaging research on ASD + ID, ASD + MV, and ASD + R, and what findings do exist are often contradictory, or so sparse as to be ungeneralizable. We suggest that while greater sample sizes and more studies are necessary, more important would be a paradigm shift toward multimodal (e.g. imaging genetics) approaches that allow for the characterization of heterogeneity within etiologically diverse samples.

摘要

背景

自闭症谱系障碍(ASD)是一组异质性神经发育疾病,其病因和表型表达各不相同。具有更严重表型的ASD表现,包括伴有智力障碍的自闭症(ASD + ID)、有发育倒退史的自闭症(ASD + R)和极少言语的自闭症(ASD + MV),总体上研究较少,尤其是在神经影像学领域。然而,神经影像学方法是理解这些ASD亚型病因的潜在有力工具。

范围和方法

本综述评估了通过使用PubMed数据库检索文献所确定的关于ASD + MV、ASD + ID和ASD + R的现有神经影像学研究,并讨论了未来涉及这些人群神经影像学评估研究的方法学、理论和实际考量。

研究结果

关于ASD + ID、ASD + MV和ASD + R的神经影像学研究很少,现有的研究结果往往相互矛盾,或者非常稀少以至于无法推广。我们认为,虽然需要更大的样本量和更多的研究,但更重要的是向多模态(如影像遗传学)方法的范式转变,这种方法能够对病因多样的样本中的异质性进行特征描述。

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本文引用的文献

3
Considerations for MRI study design and implementation in pediatric and clinical populations.
Dev Cogn Neurosci. 2016 Apr;18:101-112. doi: 10.1016/j.dcn.2015.12.005. Epub 2015 Dec 17.
4
Genetic studies in intellectual disability and related disorders.
Nat Rev Genet. 2016 Jan;17(1):9-18. doi: 10.1038/nrg3999. Epub 2015 Oct 27.
5
Head circumference and brain size in autism spectrum disorder: A systematic review and meta-analysis.
Psychiatry Res. 2015 Nov 30;234(2):239-51. doi: 10.1016/j.pscychresns.2015.08.016. Epub 2015 Sep 28.
6
Autism Spectrum Disorder and Epilepsy: Two Sides of the Same Coin?
J Child Neurol. 2015 Dec;30(14):1963-71. doi: 10.1177/0883073815601501. Epub 2015 Sep 14.
7
Genetic research in autism spectrum disorders.
Curr Opin Pediatr. 2015 Dec;27(6):685-91. doi: 10.1097/MOP.0000000000000278.
8
Simultaneous multislice (SMS) imaging techniques.
Magn Reson Med. 2016 Jan;75(1):63-81. doi: 10.1002/mrm.25897. Epub 2015 Aug 26.
9
Temporal lobe connects regression and macrocephaly to autism spectrum disorders.
Eur Child Adolesc Psychiatry. 2016 Apr;25(4):421-9. doi: 10.1007/s00787-015-0746-9. Epub 2015 Jul 30.
10
Case study: auditory brain responses in a minimally verbal child with autism and cerebral palsy.
Front Neurosci. 2015 Jun 19;9:208. doi: 10.3389/fnins.2015.00208. eCollection 2015.

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