无智力残疾的自闭症谱系障碍患者的社会和执行功能:CNeSA研究的病例对照研究方案

F. Donno, C. Balia, J. Boi, M. Manchia, A. Zuddas, S. Carucci
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摘要

一些研究表明,患有自闭症谱系障碍(ASD)的儿童和青少年经常表现出执行功能(EFs)的缺陷。对冷EF的研究表明,在不同的患者队列和不同的研究设计中存在高度异质性,而对热EF及其与不同ASD表型的关系的研究仍然有限,仅与特定领域相关,尽管这一概念可以通过解释ASD患者在日常生活中遇到的困难来澄清表型变异性,其中刺激通常是情绪化的。为了确定无智力障碍的ASD儿童和青少年的特定神经心理特征,我们设计了一项研究方案,将ASD个体的临床样本与年龄匹配(10-17岁)的典型发育对照组(TDC)进行神经心理测试,研究“冷”和“热”EF,目的是进一步研究他们与ASD症状的关系。自主测量包括心率、心率变异性、皮肤电导和唾液皮质醇也被记录在神经心理测试之前/期间/之后。本文介绍了名为“Caratterizzazione neuropsicdel disorders dello spetroctitico, senza disabilit intelliglettiva, CNeSA study”的病例对照研究方案,其基本原理,具体结果测量,及其对ASD个体临床管理和精准医学方法的意义。
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Social and executive functioning in individuals with autism spectrum disorder without intellectual disability: The case–control study protocol of the CNeSA study
Several studies suggest that children and adolescents with autism spectrum disorder (ASD) often present deficits in executive functions (EFs). The research on cold EF shows a high heterogeneity across different cohorts of patients as well as different study designs, while studies investigating hot EF and their relationship with different ASD phenotypes are still limited and related only to specific domains, although this concept could contribute to clarify the phenotypical variability by explaining the difficulties encountered by individuals with ASD in daily life, where stimuli are often emotionally charged. With the aim to identify specific neuropsychological profiles in children and adolescents with ASD without intellectual disability, we designed a study protocol comparing a clinical sample of individuals with ASD to aged-matched (10–17 years) typically developing controls (TDC) on a neuropsychological test battery investigating both “cold” and “hot” EF with the purpose of further investigating their relationships with ASD symptoms. Autonomic measures including heart rate, heart rate variability, skin conductance, and salivary cortisol were also recorded before/during/after the neuropsychological testing session. This paper describes the case–control study protocol named “Caratterizzazione NEuropsicologica del disturbo dello Spettro Autistico, senza Disabilità Intellettiva, CNeSA study,” its rationale, the specific outcome measures, and their implications for the clinical management of individuals with ASD and a precision medicine approach.
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