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欧盟-aims 纵向欧洲自闭症项目(LEAP):自闭症双胞胎队列。

EU-AIMS Longitudinal European Autism Project (LEAP): the autism twin cohort.

机构信息

1Department of Women's and Children's Health, Division of Neuropsychiatry Unit, Center of Neurodevelopmental Disorders (KIND), Karolinska Institutet, Stockholm, Sweden.

2Department of Neuroscience, Child and Adolescent Psychiatry Unit, Uppsala University, Uppsala, Sweden.

出版信息

Mol Autism. 2018 Apr 13;9:26. doi: 10.1186/s13229-018-0212-x. eCollection 2018.

Abstract

EU-AIMS is the largest European research program aiming to identify stratification biomarkers and novel interventions for autism spectrum disorder (ASD). Within the program, the Longitudinal European Autism Project (LEAP) has recruited and comprehensively phenotyped a rare sample of 76 monozygotic and dizygotic twins, discordant, or concordant for ASD plus 30 typically developing twins. The aim of this letter is to complete previous descriptions of the LEAP case-control sample, clinically characterize, and investigate the suitability of the sample for ASD twin-control analyses purposes and share some 'lessons learnt.' Among the twins, a diagnosis of ASD is associated with increased symptom levels of ADHD, higher rates of intellectual disability, and lower family income. For the future, we conclude that the LEAP twin cohort offers multiple options for analyses of genetic and shared and non-shared environmental factors to generate new hypotheses for the larger cohort of LEAP singletons, but particularly cross-validate and refine evidence from it.

摘要

EU-AIMS 是欧洲最大的研究项目,旨在为自闭症谱系障碍 (ASD) 确定分层生物标志物和新的干预措施。在该项目中,纵向欧洲自闭症项目 (LEAP) 招募了并全面表型分析了一个罕见的样本,包括 76 对同卵和异卵双胞胎,其中一些双胞胎患有 ASD,另一些则没有,此外还有 30 对典型发育的双胞胎。这封信的目的是完成之前对 LEAP 病例对照样本的描述,对其进行临床特征描述,并研究该样本是否适合 ASD 双胞胎对照分析目的,并分享一些“经验教训”。在双胞胎中,ASD 诊断与 ADHD 症状水平升高、智力残疾发生率更高和家庭收入更低有关。对于未来,我们得出结论,LEAP 双胞胎队列为分析遗传和共同以及非共同环境因素提供了多种选择,以便为 LEAP 单身队列生成新的假设,但特别需要对其进行交叉验证和完善证据。

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