Sotgiu Stefano, Barisano Giuseppe, Cavassa Vanna, Puci Mariangela Valentina, Sotgiu Maria Alessandra, Nuvoli Angela, Masala Salvatore, Carta Alessandra
Division of Child Neuropsychiatry, Department of Medicine, Surgery and Pharmacy, University of Sassari, 07100 Sassari, Italy.
Department of Neurosurgery, Stanford University, Stanford, CA 94305, USA.
J Clin Med. 2025 Apr 27;14(9):3029. doi: 10.3390/jcm14093029.
The severity of autism spectrum disorder (ASD) is clinically assessed through a comprehensive evaluation of social communication deficits, restricted interests, repetitive behaviors, and the level of support required (ranging from level 1 to level 3) according to DSM-5 criteria. Along with its varied clinical manifestations, the neuroanatomy of ASD is characterized by heterogeneous abnormalities. Notably, brain MRI of children with ASD often reveals an increased number of perivascular spaces (PVSs) compared to typically developing children. Our recent findings indicate that enlarged PVSs (ePVSs) are more common in younger male patients with severe ASD and that specific ePVS locations are significantly associated with ASD symptoms. In this study, we mapped ePVSs across key regions of three major cognitive networks-the Default Mode Network (DMN), the combined Central Executive/Frontoparietal Network (CEN/FPN), and the Salience Network (SN)-in 36 individuals with different symptom severities and rehabilitation needs due to ASD. We explored how the number, size, and location of PVSs in these networks are related to specific ASD symptoms and the overall need for rehabilitation and support. Our results suggest that ePVSs in the DMN, CEN/FPN, and SN are strongly correlated with the severity of certain ASD symptoms, including verbal deficits, stereotypies, and sensory disturbances. We found a mild association between ePVSs and the level of support needed for daily living and quality of life. Dysfunction in cognitive networks associated with the presence of ePVSs has a significant impact on the severity of ASD symptoms. However, the need for assistance may also be influenced by other comorbid conditions and dysfunctions in smaller, overlapping brain networks.
根据《精神疾病诊断与统计手册》第5版（DSM-5）标准，通过对社交沟通缺陷、兴趣受限、重复行为以及所需支持水平（从1级到3级）进行全面评估，对自闭症谱系障碍（ASD）的严重程度进行临床评估。除了其多样的临床表现外，ASD的神经解剖学特征是存在异质性异常。值得注意的是，与正常发育的儿童相比，ASD儿童的脑部磁共振成像（MRI）通常显示血管周围间隙（PVSs）数量增加。我们最近的研究结果表明，扩大的PVSs（ePVSs）在患有严重ASD的年轻男性患者中更为常见，并且特定的ePVS位置与ASD症状显著相关。在本研究中，我们绘制了36名因ASD而具有不同症状严重程度和康复需求的个体的三个主要认知网络——默认模式网络（DMN）、中央执行/额顶叶联合网络（CEN/FPN）和突显网络（SN）——关键区域的ePVSs。我们探讨了这些网络中PVSs的数量、大小和位置如何与特定的ASD症状以及康复和支持的总体需求相关。我们的结果表明，DMN、CEN/FPN和SN中的ePVSs与某些ASD症状的严重程度密切相关，包括语言缺陷、刻板行为和感觉障碍。我们发现ePVSs与日常生活所需支持水平和生活质量之间存在轻度关联。与ePVSs存在相关的认知网络功能障碍对ASD症状的严重程度有重大影响。然而，对帮助的需求也可能受到其他合并症以及较小的重叠脑网络中的功能障碍的影响。
