自闭症谱系障碍患者的未受影响同胞中自闭症样特征的前瞻性研究。

A prospective study of autistic-like traits in unaffected siblings of probands with autism spectrum disorder.

机构信息

Offord Centre for Child Studies and McMaster Children's Hospital, McMaster University, Ontario, Canada.

出版信息

JAMA Psychiatry. 2013 Jan;70(1):42-8. doi: 10.1001/2013.jamapsychiatry.1.

DOI:10.1001/2013.jamapsychiatry.1

PMID:22945359

Abstract

CONTEXT

The presence of autistic-like traits in relatives of individuals with autism spectrum disorder (ASD) is well recognized, but, to our knowledge, the emergence of these traits early in development has not been studied.

OBJECTIVE

To prospectively investigate the emergence of autistic-like traits in unaffected (no ASD diagnosis) infant siblings of probands diagnosed as having ASD.

DESIGN

Two groups of children unaffected with ASD were assessed prospectively-siblings of probands diagnosed as having ASD (high risk [HR]) and control subjects with no family history of ASD (low risk [LR]). Scores on a measure of autistic-like traits at 12 months of age were used in a cluster analysis of the entire sample.

SETTING

A prospective study of infant siblings of probands with ASD from 3 diagnostic centers in Canada.

PARTICIPANTS

The study included 170 HR and 90 LR children, none of whom was diagnosed as having ASD at age 3 years.

MAIN OUTCOME MEASURES

The Autism Observation Scale for Infants was used to measure autistic-like traits and derive clusters at 12 months of age. Clusters were compared on ASD symptoms, cognitive abilities, and social-emotional difficulties at age 3 years.

RESULTS

Two clusters were identified. Cluster 1 (n = 37; 14.2% of total sample) had significantly higher levels of autistic-like traits compared with cluster 2. Within cluster 1, 33 children came from the siblings (19.4% of HR group) and only 4 came from the control subjects (4.5% of LR group). At age 3 years, children from cluster 1 had more social-communication impairment (effect size > 0.70; P < .001), lower cognitive abilities (effect size = -0.59; P < .005), and more internalizing problems (effect size = 0.55; P = .01). Compared with control subjects, HR siblings had a relative risk of 4.3 (95% CI,1.6-11.9) for membership in cluster 1.

CONCLUSIONS

Study findings suggest the emergence of autistic-like traits resembling a broader autism phenotype by 12 months of age in approximately 19% of HR siblings who did not meet ASD diagnostic criteria at age 3 years.

摘要

背景

自闭症谱系障碍（ASD）患者亲属存在类似自闭症的特征已得到广泛认可，但据我们所知，这些特征在发育早期的出现尚未得到研究。

目的

前瞻性研究未受 ASD 影响的（无 ASD 诊断）先证者 ASD 婴儿兄弟姐妹中自闭症样特征的出现。

设计

对两组未受 ASD 影响的儿童进行前瞻性评估-先证者诊断为 ASD 的兄弟姐妹（高风险 [HR]）和无 ASD 家族史的对照受试者（低风险 [LR]）。使用 12 个月时自闭症样特征的测量来对整个样本进行聚类分析。

地点

加拿大 3 个诊断中心的 ASD 先证者婴儿兄弟姐妹的前瞻性研究。

参与者

该研究包括 170 名 HR 和 90 名 LR 儿童，他们在 3 岁时均未被诊断为 ASD。

主要观察指标

使用自闭症观察量表评估婴儿，以评估 12 个月时的自闭症样特征并得出聚类。在 3 岁时，比较聚类的 ASD 症状、认知能力和社会情感困难。

结果

确定了两个聚类。聚类 1（n = 37；总样本的 14.2%）的自闭症样特征明显高于聚类 2。在聚类 1 中，有 33 名儿童来自兄弟姐妹（HR 组的 19.4%），只有 4 名儿童来自对照组（LR 组的 4.5%）。在 3 岁时，来自聚类 1 的儿童有更多的社交沟通障碍（效应量> 0.70；P <.001），认知能力较低（效应量=-0.59；P <.005），并且更多的内化问题（效应量=0.55；P =.01）。与对照组相比，HR 兄弟姐妹在聚类 1 中的相对风险为 4.3（95%CI，1.6-11.9）。