Prediction of autism in infants: progress and challenges

作者：Prof Geraldine Dawson, PhD 、Amber D Rieder, PhD、Prof Mark H Johnson, PhD

摘要原文：Autism spectrum disorder (henceforth autism) is a neurodevelopmental condition that can be reliably diagnosed in children by age 18–24 months. Prospective longitudinal studies of infants aged 1 year and younger who are later diagnosed with autism are elucidating the early developmental course of autism and identifying ways of predicting autism before diagnosis is possible. Studies that use MRI, EEG, and near-infrared spectroscopy have identified differences in brain development in infants later diagnosed with autism compared with infants without autism. Retrospective studies of infants younger than 1 year who received a later diagnosis of autism have also showed an increased prevalence of health conditions, such as sleep disorders, gastrointestinal disorders, and vision problems. Behavioural features of infants later diagnosed with autism include differences in attention, vocalisations, gestures, affect, temperament, social engagement, sensory processing, and motor abilities. Although research findings offer insight on promising screening approaches for predicting autism in infants, individual-level predictions remain a future goal. Multiple scientific challenges and ethical questions remain to be addressed to translate research on early brain-based and behavioural predictors of autism into feasible and reliable screening tools for clinical practice.

摘要翻译：自闭症谱系障碍（以下简称自闭症）是一种神经发育疾病，可以在 18-24 个月大的儿童中可靠地诊断出来。对后来被诊断患有自闭症的 1 岁及以下婴儿的前瞻性纵向研究正在阐明自闭症的早期发展过程，并确定在诊断之前预测自闭症的方法。使用 MRI、EEG 和近红外光谱的研究发现，与没有自闭症的婴儿相比，后来被诊断患有自闭症的婴儿的大脑发育存在差异。对后来被诊断为自闭症的 1 岁以下婴儿的回顾性研究也表明，睡眠障碍、胃肠道疾病和视力问题等健康状况的患病率增加。后来被诊断患有自闭症的婴儿的行为特征包括注意力、发声、手势、情感、气质、社交参与、感觉处理和运动能力的差异。尽管研究结果为预测婴儿自闭症的有前途的筛查方法提供了见解，但个体水平的预测仍然是未来的目标。要把自闭症早期基于大脑和行为的预测因子的研究转化为临床实践的可行和可靠的筛查工具，仍有许多科学挑战和伦理问题有待解决。