Walsh Karin S, Rau Srishti
Children's National Health System and the George Washington University School of Medicine, Washington, DC, United States.
Neuropsychology, Children's National Health System, Washington, DC, United States.
Prog Brain Res. 2018;241:193-220. doi: 10.1016/bs.pbr.2018.09.015. Epub 2018 Nov 1.
Studying Autism Spectrum Disorders (ASD) in genetic syndromes has gained interest in the scientific community as a way to elucidate mechanisms and symptom profiles to understand ASD more broadly. Appropriate and adequate measurement of constructs, symptomatology, and outcomes in clinical research is of vital importance in establishing the prevalence of such symptoms and measuring change in symptoms in the context of clinical trials. As such, we provide an overview of the prevalence of ASD, present current diagnostic guidelines, discuss important comorbidities to consider, describe current assessment strategies in assessing ASD, and discuss these within the context of a specific genetic condition to highlight how ASD can be best evaluated.
在遗传综合征中研究自闭症谱系障碍(ASD)已引起科学界的兴趣,这是一种阐明机制和症状特征以更广泛地了解ASD的方法。在临床研究中,对结构、症状学和结果进行适当且充分的测量对于确定此类症状的患病率以及在临床试验背景下测量症状变化至关重要。因此,我们概述了ASD的患病率,介绍当前的诊断指南,讨论需要考虑的重要共病,描述评估ASD的当前评估策略,并在特定遗传疾病的背景下进行讨论,以突出如何能最佳地评估ASD。