Autism spectrum disorders (ASDs) are hard to characterize due to their clinical heterogeneity. Whether epilepsy and other highly prevalent comorbidities may be related to specific subphenotypes such as regressive ASD (i.e., the onset of symptoms after a period of apparently typical development) is controversial and yet to be determined. Such discrepancies may be related to the fact that age, level of cognitive functioning, and environmental variables are often not taken into account. We considered a sample of 20 subjects (i) between 20 and 55 years of age, (ii) with severe/profound intellectual disability, (iii) living in the same rural context of a farm community. As a primary aim, we tested for the association between epilepsy and regressive ASD. Secondly, we explored differences in behavioral and pharmacological profiles related to the presence of each of these conditions, as worse behavioral profiles have been separately associated with both epilepsy and regressive ASD in previous studies. An initial trend was observed for associations between the presence of epilepsy and regressive ASD (odds ratio: 5.33; 95% CI: 0.62–45.41, p-value: 0.086). Secondly, subjects with either regressive ASD or epilepsy showed worse behavioral profiles (despite the higher pharmacotherapy they received). These preliminary results, which need to be further confirmed, suggest the presence of specific associations of different clinical conditions in subjects with rarely investigated phenotypes.

中文翻译：

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在患有自闭症和严重智力障碍的成人社区中，自闭症发作，癫痫和行为的关联。

自闭症谱系障碍（ASD）由于其临床异质性而难以表征。癫痫和其他高度普遍的合并症是否可能与特定的亚表型有关，例如回归性ASD（即在明显的典型发展期后症状发作），尚有争议，尚待确定。此类差异可能与以下事实有关：通常不考虑年龄，认知功能水平和环境变量。我们考虑了20名受试者的样本（i）20至55岁之间，（ii）严重/深层次的智障，（iii）生活在农场社区的农村地区。作为主要目标，我们测试了癫痫和ASD退行性关系。其次，我们探究了与上述每种情况的存在相关的行为和药理特征的差异，因为在先前的研究中，较差的行为特征已分别与癫痫和ASD退行性相关。最初的趋势是癫痫的存在与ASD的退行性相关（赔率：5.33； 95％CI：0.62–45.41，p值：0.086）。其次，患有退行性ASD或癫痫的受试者表现出较差的行为特征（尽管他们接受了更高的药物治疗）。这些初步的结果有待进一步证实，表明在很少研究表型的受试者中存在不同临床状况的特定关联。