Stancioiu Felician, Bogdan Raluca, Dumitrescu Radu
Fundatia Bio-Forum, 040245 Bucharest, Romania.
Medicover Hospital Bucharest, 013982 Bucharest, Romania.
Life (Basel). 2023 Aug 13;13(8):1736. doi: 10.3390/life13081736.
Autistic spectrum disease (ASD) is an increasingly common diagnosis nowadays with a prevalence of 1-2% in most countries. Its complex causality-a combination of genetic, immune, metabolic, and environmental factors-is translated into pleiomorphic developmental disorders of various severity, which have two main aspects in common: repetitive, restrictive behaviors and difficulties in social interaction varying from awkward habits and verbalization to a complete lack of interest for the outside world. The wide variety of ASD causes also makes it very difficult to find a common denominator-a disease biomarker and medication-and currently, there is no commonly used diagnostic and therapeutic strategy besides clinical evaluation and psychotherapy. In the CORDUS clinical study, we have administered autologous cord blood to ASD kids who had little or no improvement after other treatments and searched for a biomarker which could help predict the degree of improvement in each patient. We have found that the neuron-specific enolase (NSE) was elevated above the normal clinical range (less than 16.3 ng/mL) in the vast majority of ASD kids tested in our study (40 of 41, or 97.5%). This finding opens up a new direction for diagnostic confirmation, dynamic evaluation, and therapeutic intervention for ASD kids.
如今，自闭症谱系障碍（ASD）的诊断越来越普遍，在大多数国家的患病率为1%-2%。其复杂的病因——遗传、免疫、代谢和环境因素的综合作用——表现为各种严重程度的多形性发育障碍，这些障碍有两个主要的共同方面：重复、受限的行为以及社交互动困难，从笨拙的习惯和言语表达，到对外部世界完全缺乏兴趣。ASD病因的多样性也使得很难找到一个共同的标准——一种疾病生物标志物和药物——目前，除了临床评估和心理治疗外，没有常用的诊断和治疗策略。在CORDUS临床研究中，我们给那些在接受其他治疗后几乎没有改善或没有改善的ASD儿童输注了自体脐带血，并寻找一种可以帮助预测每个患者改善程度的生物标志物。我们发现，在我们研究中测试的绝大多数ASD儿童（41例中的40例，即97.5%）中，神经元特异性烯醇化酶（NSE）高于正常临床范围（低于16.3 ng/mL）。这一发现为ASD儿童的诊断确认、动态评估和治疗干预开辟了一个新方向。
