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儿童期至成年早期自闭症特征稳定性的病因学影响:一项双胞胎研究的证据

Etiological influences on the stability of autistic traits from childhood to early adulthood: evidence from a twin study.

作者信息

Taylor Mark J, Gillberg Christopher, Lichtenstein Paul, Lundström Sebastian

机构信息

Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Nobels väg 12A, 17177 Stockholm, Sweden.

Gillberg Neuropsychiatry Centre, Institute of Neuroscience and Physiology, University of Gothenburg, Kungsgatan 12, 41119 Gothenburg, Sweden.

出版信息

Mol Autism. 2017 Feb 17;8:5. doi: 10.1186/s13229-017-0120-5. eCollection 2017.

Abstract

BACKGROUND

Autism spectrum disorders (ASD) are persistent and lifelong conditions. Despite this, almost all twin studies focus on childhood. This twin study investigated the stability of autistic traits from childhood to early adulthood and explored the degree to which any stability could be explained by genetic or environmental factors.

METHODS

Parents of over 2500 twin pairs completed questionnaires assessing autistic traits when twins were aged either 9 or 12 years and again when twins were aged 18. Bivariate twin analysis assessed the degree of phenotypic and etiological stability in autistic traits across this period. Genetic overlap in autistic traits across development was also tested in individuals displaying a broad ASD phenotype, defined as scoring within the highest 5% of the sample.

RESULTS

Autistic traits displayed moderate phenotypic stability ( = .39). The heritability of autistic traits was 76-77% in childhood and 60-62% in adulthood. A moderate degree of genetic influences on childhood autistic traits were carried across into adulthood (genetic correlation = .49). The majority (85%) of the stability in autistic traits was attributable to genetic factors. Genetic influences on autistic traits were moderately stable from childhood to early adulthood at the extremes (genetic correlation = .64).

CONCLUSIONS

Broad autistic traits display moderate phenotypic and etiological stability from childhood to early adulthood. Genetic factors accounted for almost all phenotypic stability, although there was some phenotypic and etiological instability in autistic traits. Thus, autistic traits in adulthood are influenced by a combination of enduring and unique genetic factors.

摘要

背景

自闭症谱系障碍(ASD)是持续性的终身疾病。尽管如此,几乎所有的双胞胎研究都集中在儿童期。这项双胞胎研究调查了从儿童期到成年早期自闭症特征的稳定性,并探讨了这种稳定性在多大程度上可以由遗传或环境因素来解释。

方法

超过2500对双胞胎的父母完成了问卷调查,在双胞胎9岁或12岁时评估自闭症特征,在双胞胎18岁时再次评估。双变量双胞胎分析评估了这一时期自闭症特征的表型和病因稳定性。还对表现出广泛ASD表型(定义为在样本最高5%范围内得分)的个体测试了不同发育阶段自闭症特征的遗传重叠情况。

结果

自闭症特征表现出中等程度的表型稳定性(r = 0.39)。自闭症特征的遗传度在儿童期为76 - 77%,在成年期为60 - 62%。对儿童期自闭症特征的中等程度遗传影响持续到成年期(遗传相关性 = 0.49)。自闭症特征稳定性的大部分(85%)可归因于遗传因素。在极端情况下,从儿童期到成年早期,遗传对自闭症特征的影响具有中等程度的稳定性(遗传相关性 = 0.64)。

结论

广泛的自闭症特征从儿童期到成年早期表现出中等程度的表型和病因稳定性。遗传因素几乎解释了所有的表型稳定性,尽管自闭症特征存在一些表型和病因不稳定性。因此,成年期的自闭症特征受到持久和独特遗传因素的共同影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b7fc/5351180/c85dd9b04681/13229_2017_120_Fig1_HTML.jpg

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