Diagnosis of Autism Spectrum Disorder After Age 5 in Children Evaluated Longitudinally Since Infancy

Diagnosis of Autism Spectrum Disorder After Age 5 in Children Evaluated Longitudinally Since Infancy
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DOI:
10.1016/j.jaac.2018.06.022
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发表时间:
2018-11-01
影响因子:
13.3
通讯作者:
Zwaigenbaum, Lonnie
Zwaigenbaum, Lonnie
中科院分区:
医学1区
文献类型:
--
作者:
Ozonoff, Sally;Young, Gregory S.;Zwaigenbaum, Lonnie

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目的:已发现自闭症谱系障碍 (ASD) 的诊断非常稳定,但很少有研究对 3 岁以上未最初诊断为 ASD 的儿童进行追踪,以检查晚期或延迟诊断。本研究采用前瞻性家庭风险设计来识别在学前班接受过多项综合评估并被确定为自闭症谱系障碍阴性的儿童,仅在童年中期进行测试时才符合自闭症谱系障碍标准。方法:汇集了 3 个研究小组的数据,这些研究小组研究了自闭症谱系障碍儿童后来出生的兄弟姐妹。 14 名儿童符合晚期诊断组的纳入标准,并与来自同一地点、在 3 岁时患有 ASD 或典型发育 (TD) 结局的高风险和低风险兄弟姐妹的大样本进行比较。 结果:作为一个群体,晚期诊断儿童在 3 岁时实施的大多数测量指标上的得分介于 TD 组和 ASD 组之间,并且在大多数测量指标上与 ASD 组显着不同。然而,晚期诊断病例之间存在显着异质性。 7 名儿童在学龄前几乎没有表现出自闭症谱系障碍的证据,而 7 名儿童则表现出微妙的阈下症状。结论:一些患有自闭症谱系障碍的儿童可能在生命早期就表现出微妙的表型或表现出较长时间的症状发展过程。这强调需要制定持续 36 个月以上的筛查和监测计划,并对任何出现非典型早期发育和/或高风险状态的儿童进行持续评估。研究结果还揭示了自闭症谱系障碍 (ASD) 诊断的平均年龄仍然超过 4 岁的原因。
Objective: The diagnosis of autism spectrum disorder (ASD) has been found to be remarkably stable but few studies have followed children not initially diagnosed with ASD beyond 3 years of age to examine late or delayed diagnoses. The present study used a prospective familial-risk design to identify children who had undergone multiple comprehensive assessments in preschool and were determined to be negative for ASD only to meet criteria for ASD when tested in middle childhood.Method: Data were pooled across 3 research teams studying later-born siblings of children with ASD. Fourteen children met inclusion criteria for the late-diagnosed group and were compared with a large sample of high- and low-risk siblings from the same sites who had ASD or typical development (TD) outcomes at 3 years of age.Results: As a group, the late-diagnosed children scored between the TD and ASD groups on most measures administered at 3 years and differed significantly from the ASD group on most measures. However, there was significant heterogeneity among the late-diagnosed cases. Seven showed very little evidence of ASD in preschool, whereas 7 demonstrated subtle, subthreshold symptomatology.Conclusion: Some children with ASD might present with a subtle phenotype early in life or show a prolonged time course of symptom development. This emphasizes the need for screening and surveillance schedules that extend past 36 months and continued evaluation of any child who presents with atypical early development and/or high-risk status. The findings also shed light on reasons why the mean age of ASD diagnosis remains older than 4 years.