Background

Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are biologically heterogeneous and often co-occur. As within-diagnosis heterogeneity and overlapping diagnoses are challenging for researchers and clinicians, identifying biologically homogenous subgroups, independent of diagnosis, is an urgent need.

Methods

MRI data from 148 adult males with developmental disorders (99 primary ASD, mean age = 31.7 ± 8.0, 49 primary ADHD; mean age = 31.7 ± 9.6) and 105 neurotypical controls (NTC; mean age = 30.6 ± 6.8) were analyzed. We extracted mean cortical thickness (CT) and surface area (SA) values using a functional atlas. Then, we conducted HeterogeneitY through DiscRiminant Analysis (HYDRA) to transdiagnostically cluster and classify individuals. Differences in diagnostic likelihood and clinical symptoms between subtypes were tested. Sensitivity analyses tested the stability of the number of subtypes and their membership by excluding 13 participants diagnosed with both ASD and ADHD and by using a different atlas.

Results

In relation to both CT and SA, HYDRA identified two subtypes. The likelihood of ASD or ADHD was not significantly different from the chance of belonging to any of these two subtypes. Clinical characteristics did not differ between subtypes in either CT or SA based analyses. The high consistency in membership was replicated when utilizing a different atlas or excluding people with dual diagnoses in CT (dice coefficients > 0.94) and in SA (>0.88).

Conclusion

Although the brain-derived subtypes do not match diagnostic groups, individuals with developmental disorders were successfully and stably subtyped using either CT or SA.

中文翻译：

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利用皮质特征对患有发育障碍的男性进行转诊诊断亚型。

背景

自闭症谱系障碍（ASD）和注意力不足/多动症（ADHD）在生物学上是异质性的，并且经常同时发生。由于诊断内异质性和重叠诊断对研究人员和临床医生具有挑战性，因此迫切需要确定独立于诊断的生物学同质亚组。

方法

分析了来自148名发育障碍成年男性的MRI数据（99个原发性ASD，平均年龄= 31.7±8.0,49个原发性ADHD;平均年龄= 31.7±9.6）和105个神经型对照（NTC;平均年龄= 30.6±6.8）。我们使用功能图集提取了平均皮质厚度（CT）和表面积（SA）值。然后，我们通过DiscRiminant分析（HYDRA）进行了异质性分析，从而对个体进行了诊断和分类。测试了亚型之间诊断可能性和临床症状的差异。敏感性分析通过排除被诊断患有ASD和ADHD的13名参与者以及使用不同的图集来测试亚型数目及其成员的稳定性。

结果

关于CT和SA，HYDRA确定了两个亚型。ASD或ADHD的可能性与属于这两种亚型中任何一种的可能性没有显着差异。在基于CT或SA的分析中，亚型之间的临床特征没有差异。使用不同的图集或排除对CT（骰子系数> 0.94）和SA（> 0.88）进行双重诊断的人时，会重复使用高度的成员资格。

结论

尽管脑源性亚型与诊断组不匹配，但是使用CT或SA成功且稳定地将具有发育障碍的个体亚型。