University of Miami, Coral Gables, FL 33124-0721, USA.
J Am Acad Child Adolesc Psychiatry. 2013 Mar;52(3):300-308.e1. doi: 10.1016/j.jaac.2012.12.011. Epub 2013 Feb 8.
First-degree relatives of persons with an autism spectrum disorder (ASD) are at increased risk for ASD-related characteristics. As little is known about the early expression of these characteristics, this study characterizes the non-ASD outcomes of 3-year-old high-risk (HR) siblings of children with ASD.
Two groups of children without ASD participated: 507 HR siblings and 324 low-risk (LR) control subjects (no known relatives with ASD). Children were enrolled at a mean age of 8 months, and outcomes were assessed at 3 years. Outcome measures were Autism Diagnostic Observation Schedule (ADOS) calibrated severity scores, and Mullen Verbal and Non-Verbal Developmental Quotients (DQ).
At 3 years, HR siblings without an ASD outcome exhibited higher mean ADOS severity scores and lower verbal and non-verbal DQs than LR controls. HR siblings were over-represented (21% HR versus 7% LR) in latent classes characterized by elevated ADOS severity and/or low to low-average DQs. The remaining HR siblings without ASD outcomes (79%) belonged to classes in which they were not differentially represented with respect to LR siblings.
Having removed a previously identified 18.7% of HR siblings with ASD outcomes from all analyses, HR siblings nevertheless exhibited higher mean levels of ASD severity and lower levels of developmental functioning than LR children. However, the latent class membership of four-fifths of the HR siblings was not significantly different from that of LR control subjects. One-fifth of HR siblings belonged to classes characterized by higher ASD severity and/or lower levels of developmental functioning. This empirically derived characterization of an early-emerging pattern of difficulties in a minority of 3-year-old HR siblings suggests the importance of developmental surveillance and early intervention for these children.
自闭症谱系障碍（ASD）患者的一级亲属患 ASD 相关特征的风险增加。由于对这些特征的早期表现知之甚少，本研究对 ASD 患儿的 3 岁高风险（HR）兄弟姐妹的非 ASD 结局进行了描述。
本研究纳入了两组无 ASD 的儿童：507 名 HR 兄弟姐妹和 324 名低风险（LR）对照（无已知 ASD 亲属）。儿童在平均 8 个月时入组，3 岁时进行结局评估。结局测量包括自闭症诊断观察量表（ADOS）校准严重程度评分，以及 Mullen 语言和非语言发育商数（DQ）。
在 3 岁时，无 ASD 结局的 HR 兄弟姐妹的 ADOS 严重程度评分均值较高，语言和非语言 DQ 较低，而 LR 对照组则较低。具有较高 ADOS 严重程度和/或低至低平均 DQ 的特征的潜在类别中，HR 兄弟姐妹的比例较高（21%HR 与 7%LR）。无 ASD 结局的其余 HR 兄弟姐妹（79%）属于与 LR 兄弟姐妹相比无差异的类别。
在从所有分析中排除了先前确定的 18.7%有 ASD 结局的 HR 兄弟姐妹后，HR 兄弟姐妹的 ASD 严重程度均值仍高于 LR 儿童，发育功能水平较低。然而，五分之四的 HR 兄弟姐妹的潜在类别与 LR 对照组无显著差异。五分之一的 HR 兄弟姐妹属于 ASD 严重程度较高和/或发育功能水平较低的类别。这种对少数 3 岁 HR 兄弟姐妹早期出现困难模式的实证描述表明，这些儿童需要进行发育监测和早期干预。
