Barbosa de Matos Marilia, Vendrametto Vittoria, Molaschi Federica, Graziano Federica, Vacchetti Martina, Svevi Barbara, Vitiello Benedetto, Marcotulli Daniele, Delia Giuliana, Fioretto Franco, Martinuzzi Andrea, Davico Chiara
Section of Child and Adolescent Neuropsychiatry, Department of Public Health and Pediatric Sciences, University of Turin, 10125 Turin, Italy.
Department of Psychology, University of Turin, 10125 Turin, Italy.
Children (Basel). 2025 Jun 27;12(7):847. doi: 10.3390/children12070847.
Autism spectrum disorder (ASD) is a neurodevelopmental condition with a complex and multifactorial etiology, diagnosed on the basis of clinical criteria. Medical comorbidities are common and often lead to instrumental examinations; however, the clinical utility of routinely performing such tests remains uncertain. This study aimed to assess the practical value of instrumental assessments in ASD by examining both prescribing behaviors and the prevalence of abnormal findings in a sample of autistic children.
A combined-method approach was adopted: (1) an online survey of child neuropsychiatrists across the Piedmont region (Italy) explored current attitudes and practices regarding instrumental testing in children with ASD; (2) a retrospective cross-sectional analysis examined the frequency and clinical relevance of abnormal findings in ASD patients who underwent comprehensive testing at a tertiary hospital in Turin.
The survey showed that 85.7% of centers follow specific protocols for instrumental examinations, though practices vary considerably. Genetic testing and blood analyses are routinely performed, while EEG, MRI, audiometry, and metabolic screenings are generally based on clinical indication. In the retrospective study, instrumental tests revealed a low rate of clinically significant findings. Clinically relevant genetic abnormalities were detected in 7.9% of CGH-array tests. EEG abnormalities were seen in 9% of cases, though 57% had nonspecific or unclear results. Among biochemical parameters, notable findings included altered lipid profiles (45%), ferritin deficiency (24%), and anemia (12.5%) and no metabolic disorders were identified.
These findings highlight substantial variability in clinical practice and suggest that while some instrumental tests may provide valuable insights, routine screening is often of limited benefit. The high prevalence of nonspecific findings reinforces the need for careful clinical correlation, emphasizing the importance of balancing comprehensive assessment against the risks of over-testing and challenges in interpreting results. Future research should focus on developing evidence-based guidelines for instrumental assessments in this population.
自闭症谱系障碍（ASD）是一种神经发育疾病，病因复杂且具有多因素性，依据临床标准进行诊断。医学合并症很常见，常常需要进行仪器检查；然而，常规进行此类检查的临床效用仍不确定。本研究旨在通过检查自闭症儿童样本中的检查行为及异常结果患病率，评估仪器评估在ASD中的实用价值。
采用了一种综合方法：（1）对意大利皮埃蒙特地区的儿童神经精神科医生进行在线调查，以探究当前对ASD儿童进行仪器检查的态度和做法；（2）进行回顾性横断面分析，以检查在都灵一家三级医院接受全面检查的ASD患者中异常结果的频率和临床相关性。
调查显示，85.7%的中心遵循仪器检查的特定方案，不过做法差异很大。基因检测和血液分析常规进行，而脑电图（EEG）、磁共振成像（MRI）、听力测定和代谢筛查通常依据临床指征进行。在回顾性研究中，仪器检查显示具有临床意义的结果发生率较低。在7.9%的比较基因组杂交阵列（CGH-array）检测中发现了具有临床相关性的基因异常。9%的病例出现了EEG异常，不过57%的结果是非特异性或不明确的。在生化参数中，显著发现包括血脂异常（45%）、铁蛋白缺乏（24%）和贫血（12.5%），未发现代谢紊乱。
这些发现凸显了临床实践中的巨大差异，并表明虽然一些仪器检查可能提供有价值的见解，但常规筛查往往益处有限。非特异性结果的高患病率强化了仔细进行临床关联的必要性，强调了在综合评估与过度检查风险及结果解释挑战之间取得平衡的重要性。未来的研究应专注于为该人群的仪器评估制定基于证据的指南。
