DiCriscio A S, Beiler D, Smith J, Asdell P, Dickey S, DiStefano M, Troiani V
Geisinger Health System, Autism and Developmental Medicine Institute (ADMI), Lewisburg, PA, United States.
Geisinger Health System, Behavioral Health, Danville, PA, United States.
Res Autism Spectr Disord. 2023 Oct;108. doi: 10.1016/j.rasd.2023.102234. Epub 2023 Sep 22.
Sleep disturbances, gastrointestinal problems, and atypical heart rate are commonly observed in patients with autism spectrum disorder (ASD) and may relate to underlying function of the autonomic nervous system (ANS). The overall objective of the current study was to quantitatively characterize features of ANS function using symptom scales and available electronic health record (EHR) data in a clinically and genetically characterized pediatric cohort.
We assessed features of ANS function via chart review of patient records adapted from items drawn from a clinical research questionnaire of autonomic symptoms. This procedure coded for the presence and/or absence of targeted symptoms and was completed in 3 groups of patients, including patients with a clinical neurodevelopmental diagnosis and identified genetic etiology (NPD, n=244), those with an ASD diagnosis with no known genetic cause (ASD, n=159), and age and sex matched controls (MC, n=213). Symptoms were assessed across four main categories: (1) Mood, Behavior, and Emotion; (2) Secretomotor, Sensory Integration; (3) Urinary, Gastrointestinal, and Digestion; and (4) Circulation, Thermoregulation, Circadian function, and Sleep/Wake cycles.
Chart review scores indicate an increased rate of autonomic symptoms across all four sections in our NPD group as compared to scores with ASD and/or MC. Additionally, we note several significant relationships between individual differences in autonomic symptoms and quantitative ASD traits.
These results highlight EHR review as a potentially useful method for quantifying variance in symptoms adapted from a questionnaire or survey. Further, using this method indicates that autonomic features are more prevalent in children with genetic disorders conferring risk for ASD and other neurodevelopmental diagnoses.
睡眠障碍、胃肠道问题和异常心率在自闭症谱系障碍(ASD)患者中较为常见,可能与自主神经系统(ANS)的潜在功能有关。本研究的总体目标是在一个具有临床和基因特征的儿科队列中,使用症状量表和可用的电子健康记录(EHR)数据对ANS功能特征进行定量描述。
我们通过对患者记录进行图表审查来评估ANS功能特征,这些记录改编自一份自主神经症状临床研究问卷中的项目。该程序对目标症状的存在与否进行编码,并在3组患者中完成,包括有临床神经发育诊断并确定了遗传病因的患者(NPD,n = 244)、患有ASD诊断但无已知遗传病因的患者(ASD,n = 159)以及年龄和性别匹配的对照组(MC,n = 213)。症状在四个主要类别中进行评估:(1)情绪、行为和情感;(2)分泌运动、感觉整合;(3)泌尿、胃肠和消化;(4)循环、体温调节、昼夜节律功能和睡眠/觉醒周期。
图表审查分数表明,与ASD和/或MC组的分数相比,我们的NPD组在所有四个部分的自主神经症状发生率均有所增加。此外,我们注意到自主神经症状的个体差异与定量ASD特征之间存在若干显著关系。
这些结果突出了EHR审查作为一种潜在有用的方法,可用于量化从问卷或调查中改编的症状差异。此外,使用这种方法表明,自主神经特征在具有ASD和其他神经发育诊断风险的遗传疾病儿童中更为普遍。