Large scale validation of an early-age eye-tracking biomarker of an autism spectrum disorder subtype.
Large scale validation of an early-age eye-tracking biomarker of an autism spectrum disorder subtype.
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DOI：
10.1038/s41598-022-08102-6
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发表时间：
2022-03-11
影响因子：
4.6
通讯作者：
Pierce K
中科院分区：
文献类型：
--
作者：
Wen TH;Cheng A;Andreason C;Zahiri J;Xiao Y;Xu R;Bao B;Courchesne E;Barnes CC;Arias SJ;Pierce K
几乎没有经过临床验证的ASD生物标志物可以快速、准确和客观地识别生命早期的自闭症，并用于支持优化的治疗结果和精准医学的进步。因此，本研究的目标是利用简单和计算先进的方法来验证通过初级保健普遍筛查计划从社区或普通人群转介的1,863名自闭症、迟缓或典型幼儿(12-48个月)中的社会注意偏好的眼球跟踪测量GeoPref测试。蹒跚学步的孩子们参与了诊断和心理测量评估，以及GeoPref测试：一部1分钟的电影，包含并排的动态社交和几何图像。测试后，诊断为ASD，ASD特征，LD，GDD，ASD先证者的其他典型同胞，或典型。与其他诊断组相比，自闭症幼儿对几何图像的视觉注意力水平最高，而那些注视水平特别高的儿童表现出较差的临床特征。使用69%的固定阈值，GeoPref测试具有98%的特异度、17%的敏感度、81%的PPV和65%的NPV。当包括眼跳时，敏感度增加到33%，在性别、种族或种族之间具有类似的有效性。GeoPref测试在最初测试后的24个月内也是高度可靠的。最后，符合ASD的双胞胎之间的注视水平显著相关，这表明GeoPref测试的表现可能是由基因驱动的。由于GeoPref测试产生的假阳性很少(~ 2%)，并且在人口统计类别中同样有效，目前的发现突显了GeoPref测试在一组儿童2岁之前快速和准确地检测自闭症的能力，并在临床试验中作为一种独特的自闭症亚型的生物标记物。
Few clinically validated biomarkers of ASD exist which can rapidly, accurately, and objectively identify autism during the first years of life and be used to support optimized treatment outcomes and advances in precision medicine. As such, the goal of the present study was to leverage both simple and computationally-advanced approaches to validate an eye-tracking measure of social attention preference, the GeoPref Test, among 1,863 ASD, delayed, or typical toddlers (12–48 months) referred from the community or general population via a primary care universal screening program. Toddlers participated in diagnostic and psychometric evaluations and the GeoPref Test: a 1-min movie containing side-by-side dynamic social and geometric images. Following testing, diagnosis was denoted as ASD, ASD features, LD, GDD, Other, typical sibling of ASD proband, or typical. Relative to other diagnostic groups, ASD toddlers exhibited the highest levels of visual attention towards geometric images and those with especially high fixation levels exhibited poor clinical profiles. Using the 69% fixation threshold, the GeoPref Test had 98% specificity, 17% sensitivity, 81% PPV, and 65% NPV. Sensitivity increased to 33% when saccades were included, with comparable validity across sex, ethnicity, or race. The GeoPref Test was also highly reliable up to 24 months following the initial test. Finally, fixation levels among twins concordant for ASD were significantly correlated, indicating that GeoPref Test performance may be genetically driven. As the GeoPref Test yields few false positives (~ 2%) and is equally valid across demographic categories, the current findings highlight the ability of the GeoPref Test to rapidly and accurately detect autism before the 2nd birthday in a subset of children and serve as a biomarker for a unique ASD subtype in clinical trials.
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DOI：
10.1176/appi.ajp.2020.20010015
发表时间：
2021-01-01
期刊：
The American journal of psychiatry
影响因子：
--
作者：
Chawner SJRA;Doherty JL;Anney RJL;Antshel KM;Bearden CE;Bernier R;Chung WK;Clements CC;Curran SR;Cuturilo G;Fiksinski AM;Gallagher L;Goin-Kochel RP;Gur RE;Hanson E;Jacquemont S;Kates WR;Kushan L;Maillard AM;McDonald-McGinn DM;Mihaljevic M;Miller JS;Moss H;Pejovic-Milovancevic M;Schultz RT;Green-Snyder L;Vorstman JA;Wenger TL;IMAGINE-ID Consortium;Hall J;Owen MJ;van den Bree MBM
通讯作者：
van den Bree MBM
影响因子：
1.8
作者：
Dababnah, Sarah;Shaia, Wendy E.;Nichols, Helen M.
通讯作者：
Nichols, Helen M.
影响因子：
2.5
作者：
Barbaro, Josephine;Freeman, Nerelie C.
通讯作者：
Freeman, Nerelie C.
影响因子：
4.7
作者：
Damiano-Goodwin, Cara R.;Woynaroski, Tiffany G.;Cascio, Carissa J.
通讯作者：
Cascio, Carissa J.
影响因子：
158.5
作者：
COURCHESNE, E;YEUNGCOURCHESNE, R;JERNIGAN, TL
通讯作者：
JERNIGAN, TL