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分层生物标志物能否解决自闭症谱系障碍的异质性问题?

Can stratification biomarkers address the heterogeneity of autism spectrum disorder?

机构信息

Department of Psychiatry, School of Medicine, Trinity College Dublin, Dublin, Ireland.

Trinity Centre for Health Sciences, St. James's Hospital, Dublin, Ireland.

出版信息

Ir J Psychol Med. 2022 Sep;39(3):305-311. doi: 10.1017/ipm.2021.73. Epub 2021 Nov 26.

Abstract

The search for biomarkers for autism spectrum disorder (henceforth autism) has received a lot of attention due to their potential clinical relevance. The clinical and aetiological heterogeneity of autism suggests the presence of subgroups. The lack of identification of a valid diagnostic biomarker for autism, and the inconsistencies seen in studies assessing differences between autism and typically developing control groups, may be partially explained by the vast heterogeneity observed in autism. The focus now is to better understand the clinical and biological heterogeneity and identify stratification biomarkers, which are measures that describe subgroups of individuals with shared biology. Using stratification approaches to assess treatment within pre-defined subgroups could clarify who may benefit from different treatments and therapies, and ultimately lead to more effective individualised treatment plans.

摘要

由于其潜在的临床相关性,自闭症谱系障碍(下文简称自闭症)生物标志物的研究受到了广泛关注。自闭症的临床表现和病因学异质性表明存在亚组。目前尚未确定自闭症有效的诊断生物标志物,且在评估自闭症与典型发育对照组之间差异的研究中存在不一致性,这在一定程度上可以用自闭症中观察到的巨大异质性来解释。目前的重点是更好地理解临床和生物学异质性,并确定分层生物标志物,这些标志物是描述具有共同生物学的个体亚组的指标。使用分层方法在预先定义的亚组内评估治疗效果,可以明确哪些人可能从不同的治疗和疗法中受益,并最终制定更有效的个体化治疗计划。

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