To investigate autism spectrum disorder (ASD) indicators in children with Leber congenital amaurosis (LCA). Cross-sectional, prospective, and correlational study. Setting: It was conducted at the Institute of Ocular Genetics, the Department of Ophthalmology at Federal University of São Paulo (UNIFESP), and the Autism Spectrum Disorder Laboratory, in São Paulo, Brazil. Patient Population: Participants included patients aged 2 to 16 years with LCA confirmed by genetic testing. There were 20 individuals with ciliopathies (LCA cilio) and 26 with other gene mutations (LCA other). As intervention, the instrument used for ASD screening was the Autism Behavior Checklist (ABC). Marginal descriptive analyses, non-parametric tests, and a linear regression model were conducted. The main outcomes were the scores on the tests correlated with clinical variables. Of the 46 participants, 6 had ASD scores. There was no statistically significant correlation between the different groups (LCA cilio and LCA other) ( = 0.438). There was no statistically significant correlation between age and ASD ( = 0.308). However, there was a statistically significant correlation between visual acuity and ASD ( = 0.008) and between male gender and ASD ( = 0.025). This study suggests that there is no correlation between LCA cilio, LCA other and ASD. These findings bring new insights to the existing literature, which previously lacked robust data on the relationship between LCA and ASD. These data demonstrate that visual acuity plays a crucial role in the development of children with visual impairment as poorer visual acuity is associated with a higher incidence of ASD. Based on this study, early interventions can be designed, especially for individuals without light perception, with the aim of maximizing their developmental outcomes. Furthermore, such data indicates that any improvement in visual acuity outcomes in treatment clinical trials become relevant for child development. NOTE: Publication of this article is sponsored by the American Ophthalmological Society.

中文翻译：

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患有莱伯先天性黑蒙的儿童和青少年的自闭症谱系障碍筛查


调查莱伯先天性黑蒙（LCA）儿童的自闭症谱系障碍（ASD）指标。横断面、前瞻性和相关性研究。地点：该研究是在巴西圣保罗联邦大学眼科 (UNIFESP) 眼科遗传学研究所和自闭症谱系障碍实验室进行的。患者人群：参与者包括 2 至 16 岁、经基因检测确诊患有 LCA 的患者。其中 20 人患有纤毛病（LCA cilio），26 人患有其他基因突变（LCA 其他）。作为干预措施，用于 ASD 筛查的工具是自闭症行为检查表 (ABC)。进行了边际描述性分析、非参数检验和线性回归模型。主要结果是与临床变量相关的测试分数。在 46 名参与者中，有 6 人有 ASD 分数。不同组之间（LCA cilio 和 LCA other）之间不存在统计学显着相关性 (= 0.438)。年龄和自闭症谱系障碍（ASD）之间不存在统计学上显着的相关性（= 0.308）。然而，视力与自闭症谱系障碍 (ASD) 之间以及男性与自闭症谱系障碍 (ASD) 之间存在统计学显着相关性 (= 0.025)。这项研究表明，LCA cilio、LCA other 和 ASD 之间不存在相关性。这些发现为现有文献带来了新的见解，这些文献以前缺乏关于 LCA 和 ASD 之间关系的可靠数据。这些数据表明，视力在视力障碍儿童的发育中起着至关重要的作用，因为视力较差与 ASD 发病率较高相关。 根据这项研究，可以设计早期干预措施，特别是对于没有光感的个体，以最大限度地提高他们的发育成果。此外，此类数据表明，治疗临床试验中视力结果的任何改善都与儿童发育相关。注：本文的出版由美国眼科学会赞助。