Dierssen Mara
Centre for Genomic Regulation (CRG); The Barcelona Institute of Science and Technology, and Universitat Pompeu Fabra (UPF), 08003 Barcelona, Spain.
Free Neuropathol. 2020 Apr 15;1:13. doi: 10.17879/freeneuropathology-2020-2672. eCollection 2020 Jan.
Developmental brain disorders, a highly heterogeneous group of disorders with a prevalence of around 3% of worldwide population, represent a growing medical challenge. They are characterized by impaired neurodevelopmental processes leading to deficits in cognition, social interaction, behavior and motor functioning as a result of abnormal development of brain. This can include developmental brain dysfunction, which can manifest as neuropsychiatric problems or impaired motor function, learning, language or non-verbal communication. Several of these phenotypes can often co-exist in the same patient and characterize the same disorder. Here I discuss some contributions in 2019 that are shaking our basic understanding of the pathogenesis of neurodevelopmental disorders. Recent developments in sophisticated imaging diagnostic tools have raised the possibility of imaging the fetal human brain growth, providing insights into the developing anatomy and improving diagnostics but also allowing a better understanding of antenatal pathology. On the other hand, advances in our understanding of the pathogenetic mechanisms reveal a remarkably complex molecular neuropathology involving a myriad of genetic architectures and regulatory elements that will help establish more rigorous genotype-phenotype correlations.
发育性脑障碍是一组高度异质性的疾病，全球患病率约为3%，是一个日益严峻的医学挑战。它们的特征是神经发育过程受损，由于大脑发育异常，导致认知、社交互动、行为和运动功能出现缺陷。这可能包括发育性脑功能障碍，可表现为神经精神问题或运动功能、学习、语言或非语言交流受损。这些表型中的几种往往会在同一患者中共存，并表征同一种疾病。在此，我将讨论2019年的一些研究成果，这些成果正在撼动我们对神经发育障碍发病机制的基本认识。先进成像诊断工具的最新进展提高了对胎儿人类大脑生长进行成像的可能性，这不仅有助于深入了解发育中的解剖结构并改善诊断，还能更好地理解产前病理学。另一方面，我们对致病机制认识的进展揭示了一种极其复杂的分子神经病理学，涉及无数的基因结构和调控元件，这将有助于建立更严格的基因型-表型相关性。
