Polšek Dora, Jagatic Tomislav, Cepanec Maja, Hof Patrick R, Simić Goran
University of Zagreb Medical School, Croatian Institute for Brain Research, Zagreb, Croatia.
Transl Neurosci. 2011;2(3):256-264. doi: 10.2478/s13380-011-0024-3.
Autism spectrum disorders (ASD) represent complex neurodevelopmental disorders characterized by impairments in reciprocal social interactions, abnormal development and use of language, and monotonously repetitive behaviors. With an estimated heritability of more than 90%, it is the most strongly genetically influenced psychiatric disorder of the young age. In spite of the complexity of this disorder, there has recently been much progress in the research on etiology, early diagnosing, and therapy of autism. Besides already advanced neuropathologic research, several new technological innovations, such as sleep functional MRI, diffusion tensor imaging (DTI) and proton magnetic resonance spectroscopy imaging ((1)H-MRS) divulged promising breakthroughs in exploring subtle morphological and neurochemical changes in the autistic brain. This review provides a comprehensive summary of morphological and neurochemical alterations in autism known to date, as well as a short introduction to the functional research that has begun to advance in the last decade. Finally, we mention the progress in establishing new standardized diagnostic measures and its importance in early recognition and treatment of ASD.
自闭症谱系障碍(ASD)是一种复杂的神经发育障碍,其特征是社交互动障碍、语言发育和使用异常,以及单调重复的行为。其遗传度估计超过90%,是受遗传影响最强的青少年精神疾病。尽管这种疾病很复杂,但最近在自闭症的病因、早期诊断和治疗研究方面取得了很大进展。除了已经先进的神经病理学研究外,一些新技术创新,如睡眠功能磁共振成像、扩散张量成像(DTI)和质子磁共振波谱成像((1)H-MRS)在探索自闭症大脑细微的形态和神经化学变化方面取得了有希望的突破。这篇综述全面总结了迄今为止已知的自闭症形态和神经化学改变,以及对过去十年中开始推进的功能研究的简要介绍。最后,我们提到了建立新的标准化诊断措施的进展及其在ASD早期识别和治疗中的重要性。