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家族患病情况能否为自闭症谱系障碍的婴儿同胞结局提供信息?

Can family affectedness inform infant sibling outcomes of autism spectrum disorders?

机构信息

Department of Psychiatry and Behavioral Sciences, University of California, Davis, USA.

出版信息

J Child Psychol Psychiatry. 2010 Sep;51(9):1021-30. doi: 10.1111/j.1469-7610.2010.02267.x. Epub 2010 Jun 7.

Abstract

BACKGROUND

Difficulties in communication and reciprocal social behavior are core features of autism spectrum disorders (ASD) and are often present, to varying degrees, in other family members. This prospective longitudinal infant sibling study examines whether social-communicative features of family members may inform which infants are at increased risk for ASD and other developmental concerns.

METHOD

Two hundred and seventeen families participated in this study. Infant siblings were recruited from families with at least one older child diagnosed with an ASD (n = 135) or at least one typically developing older child (n = 82). Families completed the Social Responsiveness Scale to assess social and communication features of the broader autism phenotype (BAP), sometimes called quantitative autistic traits (QAT). Family affectedness was assessed in two ways: categorically, based on number of affected older siblings (i.e., typical, simplex, multiplex risk groups) and dimensionally, by assessing varying degrees of QAT in all family members. Infant siblings were assessed at 36 months of age and completed the Autism Diagnostic Observation Schedule and the Mullen Scales of Early Learning.

RESULTS

In structural equation models, comparisons between multiplex, simplex and typical groups revealed the highest rates of QAT in the multiplex group followed by the simplex and typical groups. Infant sibling outcomes were predicted by gender, family risk group, proband QAT, and additional sibling QAT.

CONCLUSIONS

Replicating previous cross-sectional and family history findings, the present study found elevated social and communication features of the BAP in siblings and fathers of ASD families, but not in mothers. While social and communication features of the BAP in mothers, fathers, and undiagnosed siblings did not predict infant sibling outcomes, having more than one affected older sibling did. Infant siblings from multiplex families were at significantly higher risk for ASD than infant siblings from simplex families in this sample.

摘要

背景

沟通困难和互惠的社会行为是自闭症谱系障碍(ASD)的核心特征,并且在其他家庭成员中也经常存在,只是程度不同。这项前瞻性纵向婴儿兄弟姐妹研究考察了家庭成员的社会交流特征是否可以提供哪些婴儿患 ASD 和其他发育问题的风险增加的信息。

方法

217 个家庭参与了这项研究。从至少有一个患有 ASD 的年龄较大的孩子(n=135)或至少有一个发育正常的年龄较大的孩子(n=82)的家庭中招募婴儿兄弟姐妹。家庭使用社交反应量表评估广义自闭症表型(BAP)的社交和沟通特征,有时也称为定量自闭症特征(QAT)。家庭的受累情况通过两种方式进行评估:分类,基于受影响的年龄较大的兄弟姐妹的数量(即典型、单纯、多重复发风险组)和维度,通过评估所有家庭成员中不同程度的 QAT。婴儿兄弟姐妹在 36 个月时接受评估,并完成自闭症诊断观察量表和穆伦早期学习量表的评估。

结果

在结构方程模型中,将多重复发组、单纯组和典型组进行比较,结果显示多重复发组的 QAT 率最高,其次是单纯组和典型组。婴儿兄弟姐妹的结果受性别、家庭风险组、先证者 QAT 和其他兄弟姐妹 QAT 的影响。

结论

复制以前的横断面和家族史研究结果,本研究发现 ASD 家庭的兄弟姐妹和父亲具有较高的 BAP 的社交和沟通特征,但母亲没有。虽然母亲、父亲和未确诊的兄弟姐妹的 BAP 的社交和沟通特征不能预测婴儿兄弟姐妹的结果,但有一个以上受影响的年龄较大的兄弟姐妹可以。在本样本中,来自多重复发家庭的婴儿兄弟姐妹患 ASD 的风险显著高于来自单纯组家庭的婴儿兄弟姐妹。

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