Diagnostic shifts in autism spectrum disorder can be linked to the fuzzy nature of the diagnostic boundary: a data-driven approach.
Diagnostic shifts in autism spectrum disorder can be linked to the fuzzy nature of the diagnostic boundary: a data-driven approach.
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DOI：
10.1111/jcpp.13406
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发表时间：
2021-10
期刊：
影响因子：
--
通讯作者：
IBIS Network
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文献类型：
--
作者：
Tunç B;Pandey J;St John T;Meera SS;Maldarelli JE;Zwaigenbaum L;Hazlett HC;Dager SR;Botteron KN;Girault JB;McKinstry RC;Verma R;Elison JT;Pruett JR Jr;Piven J;Estes AM;Schultz RT;IBIS Network
早期的诊断转变可能为自闭症谱系障碍(ASD)和典型发育之间的分离的本质提供宝贵的见解。最近对ASD的概念化研究表明，这种情况只是模糊地与非ASD分开，中间病例介于两者之间。这些中间病例可能会随着时间的推移而沿着过渡区域移动，导致明显的诊断不稳定。我们使用了一组ASD风险较高的儿童，他们的兄弟姐妹患有ASD，评估时间分别为24个月(N=212)和36个月(N=191)。我们应用机器学习来经验性地描述ASD和非ASD之间的分类边界，使用量化发展和适应技能的变量。我们计算了儿童到分类边界的距离。在两个方向上从24个月到36个月切换诊断标签的儿童(动态组)具有中等的表型特征。与24个月(Cohen‘s d=0.52)和36个月(d=0.75)诊断稳定的儿童相比，他们更接近分类边界。动态组和稳定组两个时间点之间距离的变化幅度相似(Cohen‘s d=0.06)，诊断性变化与较大的变化无关。在个体层面上，动态组中的一些孩子表现出了实质性的变化。我们的结果表明，诊断的转变很大程度上是由于ASD和非ASD之间的过渡区内的轻微移动。这一事实突显了需要更警惕的监测和干预战略。具有中等表型的幼儿在晚年获得或失去诊断的易感性增加，这提醒人们注意早期ASD诊断的内在动态性质。
Diagnostic shifts at early ages may provide invaluable insights into the nature of separation between autism spectrum disorder (ASD) and typical development. Recent conceptualizations of ASD suggest the condition is only fuzzily separated from non-ASD, with intermediate cases between the two. These intermediate cases may shift along a transition region over time, leading to apparent instability of diagnosis. We used a cohort of children with high ASD risk, by virtue of having an older sibling with ASD, assessed at 24 months (N=212) and 36 months (N=191). We applied machine learning to empirically characterize the classification boundary between ASD and non-ASD, using variables quantifying developmental and adaptive skills. We computed the distance of children to the classification boundary. Children who switched diagnostic labels from 24 to 36 months, in both directions, (dynamic group) had intermediate phenotypic profiles. They were closer to the classification boundary compared to children who had stable diagnoses, both at 24 months (Cohen’s d = 0.52) and at 36 months (d = 0.75). The magnitude of change in distance between the two time points was similar for the dynamic and stable groups (Cohen’s d = 0.06), and diagnostic shifts were not associated with a large change. At the individual level, a few children in the dynamic group showed substantial change. Our results suggested that a diagnostic shift was largely due to a slight movement within a transition region between ASD and non-ASD. This fact highlights the need for more vigilant surveillance and intervention strategies. Young children with intermediate phenotypes may have an increased susceptibility to gain or lose their diagnosis at later ages, calling attention to the inherently dynamic nature of early ASD diagnoses.
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发表时间：
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