Physical examinations are recommended as part of a comprehensive evaluation for individuals with neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder. These examinations should include assessment for morphological variants. Previous studies have shown an increase in morphological variants in individuals with NDDs, particularly ASD, and that these variants may be present in greater amounts in individuals with genetic alterations. Unfortunately, assessment for morphological variants can be subjective and time-consuming, and require a high degree of clinical expertise. Therefore, objective, automated methods of morphological assessment are desirable. This study compared the use of Face2Gene, an automated tool to explore facial morphological variants, to clinical consensus assessment, using a cohort of N = 290 twins enriched for NDDs (n = 135 with NDD diagnoses). Agreement between automated and clinical assessments were satisfactory to complete (78.3-100%). In our twin sample, individuals with NDDs did not have greater numbers of facial morphological variants when compared to those with typical development, nor when controlling for shared genetic and environmental factors within twin pairs. Common facial morphological variants in those with and without NDDs were similar and included thick upper lip vermilion, abnormality of the nasal tip, long face, and upslanted palpebral fissure. We conclude that although facial morphological variants can be assessed reliably in NDDs with automated tools like Face2Gene, clinical utility is limited when just exploring the facial region. Therefore, currently, automated assessments may best complement, rather than replace, in-person clinical assessments.

中文翻译：

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临床与自动评估双胞胎中有无神经发育障碍的形态变异。

建议对患有自闭症谱系障碍（ASD）和注意力不足/多动症等神经发育障碍（NDD）的人进行全面检查，以进行身体检查。这些检查应包括对形态变异的评估。先前的研究表明，具有NDDs（尤其是ASD）的个体的形态变异增加，并且这些变异可能在具有遗传变异的个体中大量存在。不幸的是，对形态变异的评估可能是主观且耗时的，并且需要高度的临床专业知识。因此，需要客观，自动化的形态学评估方法。这项研究将使用Face2Gene（一种用于探索面部形态变异的自动工具）与临床共识评估进行了比较，使用N = 290的双胞胎对NDD进行浓缩（NDD诊断为n = 135）。自动化和临床评估之间的协议令人满意（78.3-100％）。在我们的双胞胎样本中，与具有典型发育的人相比，或者在控制双胞胎中共享的遗传和环境因素时，具有NDDs的人没有更多的面部形态变异。有无NDD者的常见面部形态学变异相似，包括上唇朱红色浓密，鼻尖异常，长脸和睑裂倾斜。我们得出的结论是，尽管可以使用Face2Gene之类的自动化工具在NDD中可靠地评估面部形态变异，但仅在探索面部区域时，临床实用性受到限制。因此，目前，