神经遗传综合征和特发性神经发育障碍患者社会注意力的远程监测。

IF 5.3 2区 医学 Q1 BEHAVIORAL SCIENCES
Autism Research Pub Date : 2024-12-06 DOI:10.1002/aur.3290
Thomas W. Frazier, Robyn M. Busch, Patricia Klaas, Katherine Lachlan, Shafali Jeste, Alexander Kolevzon, Eva Loth, Jacqueline Harris, Tom Pepper, Kristin Anthony, J. Michael Graglia, Kathryn Helde, Christal Delagrammatikas, Sandra Bedrosian-Sermone, Constance Smith-Hicks, Mustafa Sahin, Eric A. Youngstrom, Charis Eng, Lacey Chetcuti, Antonio Y. Hardan, Mirko Uljarevic
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引用次数: 0

摘要

社会注意力是神经发育的一个关键方面,在神经发育遗传综合征和许多特发性自闭症谱系障碍(ASD)患者中显著改变。本研究的主要目的是检查网络摄像头收集的社会注意测量的心理测量特性,包括社会注意的四个新的特定方面,在三种遗传综合征(PTEN错构瘤肿瘤综合征- phts;马伦Syndrome-NFIX;和syngap1相关疾病- syngap1),其他神经发育遗传综合征(其他NDGS)的混合组,以及一系列特发性神经发育障碍(NDD)的个体。第二个目的是评估这些社会注意测量的结构效度,包括评估跨研究组的已知组效度和区分ASD和非ASD病例的并发效度。参与者(N = 467,年龄3-45岁;PHTS n = 102, NFIX n = 23, SYNGAP1 n = 42,其他NDGS n = 63,特发性NDD n = 53,神经正常的兄弟姐妹n = 71,不相关的神经正常对照n = 113)完成了一个4分钟的在线管理的社会注意范式,包括在三个时间点(基线,1个月和4个月的随访)的各种不同的刺激。除非社会偏好和面孔特异性加工外,社会注意测量具有良好的量表信度和重测信度。不同研究组中出现了独特的社会注意模式,与对照组相比,PHTS的社会注意水平接近神经典型水平,而NFIX和SYNGAP1的社会注意水平较弱。全球社会关注在NDGS参与者中检测ASD具有良好的准确性。远程监测社会注意力,包括社会注意力的不同方面,可能有助于表征表型特征,追踪不同NDGS和特发性NDD的自然历史,以及识别NDGS中的ASD。鉴于其可重复性和稳定性,全球社会关注和几种不同的社会关注措施可能是未来临床试验的有用结果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disability

Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disability

Social attention is a key aspect of neurodevelopment and is significantly altered in neurodevelopmental genetic syndromes and many individuals with idiopathic autism spectrum disorder (ASD). The primary aim of the present study was to examine the psychometric properties of webcam-collected social attention measurements, including four new specific aspects of social attention, in three genetic syndromes (PTEN Hamartoma Tumor Syndrome—PHTS; Malan Syndrome—NFIX; and SYNGAP1-related disorder—SYNGAP1), a mixed group of other neurodevelopmental genetic syndromes (Other NDGS), and individuals with a range of idiopathic neurodevelopmental disorder (NDD). The secondary aim was to evaluate the construct validity of these social attention measurements, including evaluating known-groups validity across study groups and concurrent validity for separating ASD and non-ASD cases. Participants (N = 467, age 3–45; PHTS n = 102, NFIX n = 23, SYNGAP1 n = 42, other NDGS n = 63, idiopathic NDD n = 53, neurotypical siblings n = 71, and unrelated neurotypical controls n = 113) completed a 4-min online-administered social attention paradigm that includes a variety of distinct stimuli at three timepoints (baseline, 1-month, and 4-month follow-up). Social attention measures had good scale and test–retest reliability, with the exception of measures of non-social preference and face-specific processing. Unique patterns of social attention emerged across study groups, with near neurotypical levels in PHTS and weaker social attention in NFIX and SYNGAP1 relative to controls. Global social attention had good accuracy in detecting ASD within NDGS participants. Remote monitoring social attention, including distinct aspects of social attention, may be useful for characterizing phenotypic profiles and tracking the natural history of distinct NDGS and idiopathic NDD as well as identifying ASD within NDGS. Given their reproducibility and stability, global social attention and several distinct social attention measures may be useful outcomes for future clinical trials.

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来源期刊
Autism Research
Autism Research 医学-行为科学
CiteScore
8.00
自引率
8.50%
发文量
187
审稿时长
>12 weeks
期刊介绍: AUTISM RESEARCH will cover the developmental disorders known as Pervasive Developmental Disorders (or autism spectrum disorders – ASDs). The Journal focuses on basic genetic, neurobiological and psychological mechanisms and how these influence developmental processes in ASDs.
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