Screening for Autism Spectrum Disorder in Children and Adolescents With Leber's Congenital Amaurosis

• Published in: American journal of ophthalmology 2024-09, Vol.265, p.257-274
• Main Authors: Sallum, Juliana Maria Ferraz, Pellissari, Marina Cruz, Carreiro, Luiz Renato, de Vasconcellos, Cecília Francini Cabral
• Format: Article
• Language: English
• ISSN: 0002-9394; 1879-1891; 1879-1891
• DOI: 10.1016/j.ajo.2024.05.020

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) (p = 0.438). There was no statistically significant correlation between age and ASD (p = 0.308). However, there was a statistically significant correlation between visual acuity and ASD (p = 0.008) and between male gender and ASD (p = 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.