Division of Dysmorphology and Teratology, Department of Pediatrics, University of California San Diego (UCSD), La Jolla, CA, USA.
Division of Genetics, Rady Children's Hospital San Diego, San Diego, CA, USA.
Alcohol Clin Exp Res. 2021 Feb;45(2):409-417. doi: 10.1111/acer.14533. Epub 2021 Feb 8.
The fetal alcohol spectrum disorders (FASD) are among the most prevalent causes of neurodevelopmental disorders. The diagnosis is based on assessment of prenatal alcohol exposure, specific physical features identified with a dysmorphology examination, and neurobehavioral assessment. Prompt diagnosis of affected children is necessary to provide early intervention services in a timely manner; however, the availability of diagnostic expertise is limited. We propose telemedicine (TM) as a valid and reliable mode by which the physical phenotype of FASD can be accurately assessed.
We compared face-to-face (F2F) physical examinations of the 3 key facial features and the resulting physical phenotype of the fetal alcohol syndrome (FAS) and partial FAS (pFAS), as well as 12 additional physical features seen more frequently in children with FAS than in the general population in 61 individuals with 2 different TM methods. These included a Transportable Examination Station system using a precision camera and a laptop and a Zoom secure connection system (ZOOM), using a smart phone and a tablet. We measured the percentages of agreement and the Cohen's K coefficient for each comparison.
Agreements for most physical features and for the physical phenotype of FAS and pFAS were in the "almost perfect" range with some exceptions in the "substantial" range. Imprecision in measurement and subjectivity underlie lower agreement for some features, both F2F and using TM. We identified the optimal conditions for the F2F examinations in order to assure reliability using TM.
TM is a valid and reliable method for the examination of the physical features of FAS that may contribute to greater access to an early diagnosis of FASD in children prenatally exposed to alcohol and/or with characteristic neurobehavioral deficits.
胎儿酒精谱系障碍（FASD）是最常见的神经发育障碍之一。该诊断基于对产前酒精暴露的评估、通过畸形学检查确定的特定身体特征以及神经行为评估。及时诊断受影响的儿童是提供早期干预服务的必要条件；然而，诊断专业知识的可用性有限。我们提出远程医疗（TM）是一种有效的可靠模式，可以准确评估 FASD 的身体表型。
我们比较了 61 名个体中 2 种不同 TM 方法的面对面（F2F）检查和由此产生的胎儿酒精综合征（FAS）和部分 FAS（pFAS）的 3 个关键面部特征及其身体表型，以及在 FAS 儿童中比在普通人群中更常见的 12 个额外身体特征。这些特征包括使用精密相机和笔记本电脑的可运输检查站系统，以及使用智能手机和平板电脑的 Zoom 安全连接系统（ZOOM）。我们测量了每种比较的一致性百分比和 Cohen's K 系数。
大多数身体特征和 FAS 和 pFAS 的身体表型的一致性都在“几乎完美”范围内，但在“大量”范围内存在一些例外。由于测量的不精确和主观性，一些特征的一致性较低，无论是 F2F 还是使用 TM。我们确定了 F2F 检查的最佳条件，以确保使用 TM 进行可靠的检查。
TM 是一种有效的可靠方法，可用于检查 FAS 的身体特征，这可能有助于更多地对产前暴露于酒精和/或具有特征性神经行为缺陷的儿童进行 FASD 的早期诊断。
