Marcotulli Daniele, Davico Chiara, Somà Alessandra, Teghille Guido, Ravaglia Giorgio, Amianto Federico, Ricci Federica, Puccinelli Maria Paola, Spada Marco, Vitiello Benedetto
Section of Child and Adolescent Neuropsychiatry, Department of Public Health and Pediatric Sciences, University of Turin, 10126 Turin, Italy.
Department of Neuroscience, University of Turin, 10126 Turin, Italy.
Children (Basel). 2022 Apr 11;9(4):540. doi: 10.3390/children9040540.
Abnormalities in the plasma amino acid and/or urinary organic acid profile have been reported in autism spectrum disorder (ASD). An imbalance between excitatory and inhibitory neuronal activity has been proposed as a mechanism to explain dysfunctional brain networks in ASD, as also suggested by the increased risk of epilepsy in this disorder. This study explored the possible association between presence of EEG paroxysmal abnormalities and the metabolic profile of plasma amino acids and urinary organic acids in children with ASD. In a sample of 55 children with ASD (81.8% male, mean age 53.67 months), EEGs were recorded, and 24 plasma amino acids and 56 urinary organic acids analyzed. EEG epileptiform discharges were found in 36 (65%) children. A LASSO regression, adjusted by age and sex, was applied to evaluate the association of plasma amino acids and urinary organic acids profiles with the presence of EEG epileptiform discharges. Plasma levels of threonine (THR) (coefficient = -0.02, = 0.04) and urinary concentration of 3-Hydroxy-3-Methylglutaric acid (HMGA) (coefficient = 0.04, = 0.02) were found to be associated with the presence of epileptiform discharges. These results suggest that altered redox mechanisms might be linked to epileptiform brain activity in ASD.
据报道，自闭症谱系障碍（ASD）患者存在血浆氨基酸和/或尿有机酸谱异常。兴奋性和抑制性神经元活动之间的失衡被认为是解释ASD患者脑网络功能障碍的一种机制，该疾病中癫痫风险增加也表明了这一点。本研究探讨了ASD儿童脑电图阵发性异常的存在与血浆氨基酸和尿有机酸代谢谱之间的可能关联。在55名ASD儿童样本中（81.8%为男性，平均年龄53.67个月），记录脑电图，并分析24种血浆氨基酸和56种尿有机酸。36名（65%）儿童发现脑电图癫痫样放电。应用经年龄和性别调整的LASSO回归来评估血浆氨基酸和尿有机酸谱与脑电图癫痫样放电存在之间的关联。发现苏氨酸（THR）的血浆水平（系数=-0.02，P=0.04）和3-羟基-3-甲基戊二酸（HMGA）的尿浓度（系数=0.04，P=0.02）与癫痫样放电的存在有关。这些结果表明，氧化还原机制的改变可能与ASD患者的癫痫样脑活动有关。
