RESUMO
PURPOSE: To investigate autism spectrum disorder (ASD) indicators in children with Leber congenital amaurosis (LCA). STUDY DESIGN: Cross-sectional, prospective, and correlational study. METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.
RESUMO
ABSTRACT Medical specialties have recognized that breaking bad news assists clinical practice by mitigating the impact of difficult conversations. This scenario also encourages various studies on breaking bad news in ophthalmology since certain ocular diagnoses can be considered bad news. Thus, the objective is to review the scientific literature on breaking bad news in ophthalmology. The literature databases like MEDLINE/PUBMED, EMBASE, LILACS, SCOPUS, COCHRANE, and SCIELO, were screened for related research publications. Two independent reviewers read all the articles and short-listed the most relevant ones. Seven articles, in the formats of original article, review, editorial, oral communication, and correspondence, were reviewed. Conclusively it reveals that ophthalmologists are concerned with communicating bad news effectively but lack related studies. Nevertheless, there is a growing realization that training in breaking bad news can increase physicians' confidence during communication, thus, benefiting the therapeutic relationship with the patient and his family. Therefore, it would be valuable to include breaking bad news training in the curriculum of residencies.
RESUMO O reconhecimento sobre a comunicação de más notícias como mitigadora de conversas difíceis por outras especialidades médicas, incentiva o estudo desta temática na oftalmologia. Sendo assim, o objetivo deste estudo é revisar a produção de pesquisas científicas sobre a comunicação de más notícias em oftalmologia. Para isso, foi realizada uma revisão de literatura. As bases de dados utilizadas foram MEDLINE/PUBMED, EMBASE, LILACS, SCOPUS, COCHRANE e SCIELO. Dois revisores independentes leram todos os artigos e selecionaram a amostra final. Sete artigos foram escolhidos nos formatos de artigo original, revisão, editorial, comunicação oral e correspondência. Os oftalmologistas estão preocupados em comunicar as más notícias de forma eficaz, mas faltam estudos sobre o tema. No entanto, há uma crescente percepção de que o treinamento de comunicação de más notícias aumenta a confiança dos médicos na comunicação, beneficiando a relação terapêutica. Portanto, seria valioso incluir este treinamento no currículo das residências.
RESUMO
Medical specialties have recognized that breaking bad news assists clinical practice by mitigating the impact of difficult conversations. This scenario also encourages various studies on breaking bad news in ophthalmology since certain ocular diagnoses can be considered bad news. Thus, the objective is to review the scientific literature on breaking bad news in ophthalmology. The literature databases like MEDLINE/PUBMED, EMBASE, LILACS, SCOPUS, COCHRANE, and SCIELO, were screened for related research publications. Two independent reviewers read all the articles and short-listed the most relevant ones. Seven articles, in the formats of original article, review, editorial, oral communication, and correspondence, were reviewed. Conclusively it reveals that ophthalmologists are concerned with communicating bad news effectively but lack related studies. Nevertheless, there is a growing realization that training in breaking bad news can increase physicians' confidence during communication, thus, benefiting the therapeutic relationship with the patient and his family. Therefore, it would be valuable to include breaking bad news training in the curriculum of residencies.
