Diagnostic stability in young children at risk for autism spectrum disorder: a baby siblings research consortium study.
Diagnostic stability in young children at risk for autism spectrum disorder: a baby siblings research consortium study.
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自闭症谱系障碍风险的幼儿诊断稳定性：婴儿兄弟姐妹研究联盟研究。
DOI：
10.1111/jcpp.12421
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发表时间：
2015-09
期刊：
影响因子：
--
通讯作者：
Iosif AM
中科院分区：
文献类型：
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作者：
Ozonoff S;Young GS;Landa RJ;Brian J;Bryson S;Charman T;Chawarska K;Macari SL;Messinger D;Stone WL;Zwaigenbaum L;Iosif AM
在临床和社区确定的样本中，在3岁之前做出的自闭症谱系障碍（ASD）诊断已被发现非常稳定。然而，在前瞻性确定的因家族因素而有患ASD风险的婴儿样本中，ASD诊断的稳定性尚未得到研究。美国儿科学会建议对这一高危人群进行强化监测和筛查，这样可以更早地发现。因此，了解3岁前对有家族风险的幼儿进行ASD诊断的稳定性是至关重要的。数据汇集在婴儿兄弟姐妹研究联盟的7个站点。对418名ASD患儿的后生兄弟姐妹在18、24和36个月大时进行了评估，并在每个年龄段进行了ASD或非ASD的临床诊断。18个月时ASD诊断的稳定性为93%，24个月时为82%。在18或24个月时被诊断为ASD的儿童中，在36个月时诊断未得到证实的儿童相对较少。然而，有许多在36个月大时患有ASD的儿童在18个月大（63%）或24个月大（41%）时尚未被诊断出来。在18个月和24个月大的家庭风险样本中，ASD诊断的稳定性很高，与以前临床和社区确定样本的数据相当。然而，几乎一半的自闭症儿童在24个月大时没有被确定为自闭症谱系，直到36个月大时才被诊断为自闭症谱系。因此，纵向随访对于有社交障碍早期迹象的儿童至关重要，即使他们在最初评估时不符合诊断标准。这些数据对公共健康的影响是，自闭症谱系障碍筛查可能需要在出生后的头几年重复多次。这些数据还表明，在早期发育阶段，自闭症谱系障碍的特征逐渐显现，但尚未达到支持诊断的水平。
The diagnosis of autism spectrum disorder (ASD) made before age 3 has been found to be remarkably stable in clinic- and community-ascertained samples. The stability of an ASD diagnosis in prospectively ascertained samples of infants at risk for ASD due to familial factors has not yet been studied, however. The American Academy of Pediatrics recommends intensive surveillance and screening for this high-risk group, which may afford earlier identification. Therefore, it is critical to understand the stability of an ASD diagnosis made before age 3 in young children at familial risk. Data were pooled across 7 sites of the Baby Siblings Research Consortium. Evaluations of 418 later-born siblings of children with ASD were conducted at 18, 24, and 36 months of age and a clinical diagnosis of ASD or Not ASD was made at each age. The stability of an ASD diagnosis at 18 months was 93% and at 24 months was 82%. There were relatively few children diagnosed with ASD at 18 or 24 months whose diagnosis was not confirmed at 36 months. There were, however, many children with ASD outcomes at 36 months who had not yet been diagnosed at 18 months (63%) or 24 months (41%). The stability of an ASD diagnosis in this familial-risk sample was high at both 18 and 24 months of age and comparable with previous data from clinic- and community-ascertained samples. However, almost half of children with ASD outcomes were not identified as being on the spectrum at 24 months and did not receive an ASD diagnosis until 36 months. Thus, longitudinal follow-up is critical for children with early signs of social-communication difficulties, even if they do not meet diagnostic criteria at initial assessment. A public health implication of these data is that screening for ASD may need to be repeated multiple times in the first years of life. These data also suggest that there is a period of early development in which ASD features unfold and emerge but have not yet reached levels supportive of a diagnosis.