关键词: congenital and stationary retinal disease < RETINA genetic disease / congenital abnormalities < PEDIATRIC OPHTHALMOLOGY genetics < GENETICS molecular < GENETICS practice management < SOCIOECONOMICS AND EDUCATION IN MEDICINE/OPHTHALMOLOGY

Mesh : Humans Retrospective Studies Child Prevalence Male Female Child, Preschool Adolescent Infant Visual Acuity / physiology Albinism, Ocular / epidemiology Autism Spectrum Disorder / epidemiology diagnosis

来  源:   DOI:10.1177/11206721231206091   PDF(Pubmed)

Abstract:
BACKGROUND: The association between Autism spectrum disorders (ASD) and visual impairment has been mentioned in the literature. The aim of our study was to investigate the prevalence of autism among children with albinism compared to the prevalence of ASD in children with visual impairment secondary to other causes.
METHODS: Retrospective study of children with albinism from January 2015 to December 2020. A control group was created with children with early onset visual impairment of similar visual range and age, secondary to diagnosis other than albinism. Patients with associated Autism were identified in both groups.
RESULTS: Seven hundred and eight children aged 1-18 years with visual impairment were included in the study. 401 children had a diagnosis of albinism, of whom 14 were also diagnosed with ASD. In the control group, composed of 307 patients, only 3 had ASD (p: 0·03).
CONCLUSIONS: The prevalence of ASD in patients with albinism was 1 in 28, while in children with visual impairment from other causes was 1 in 102. We aim to raise awareness of the higher prevalence of autism in children diagnosed with albinism in order to reach earlier diagnosis and support.
摘要:
背景:文献中已经提到自闭症谱系障碍(ASD)与视力障碍之间的关联。我们研究的目的是调查白化病儿童中自闭症的患病率与其他原因继发视力障碍儿童中ASD的患病率。
方法:2015年1月至2020年12月对白化病儿童进行回顾性研究。对照组是由视力范围和年龄相似的早发性视力障碍儿童创建的,继发于白化病以外的诊断。在两组中都确定了相关自闭症患者。
结果:7108名1-18岁视力障碍儿童被纳入研究。401名儿童被诊断为白化病,其中14人也被诊断为ASD。在对照组中,由307名患者组成,只有3人患有ASD(p:0·03)。
结论:白化病患者中ASD的患病率为1/28,而其他原因导致视力障碍的儿童中ASD的患病率为1/102。我们旨在提高对被诊断为白化病的儿童自闭症患病率较高的认识,以便早期诊断和支持。
公众号