Mesleh Areej G, Abdulla Sara A, El-Agnaf Omar
Division of Genomics and Precision Medicine (GPM), College of Health & Life Sciences (CHLS), Hamad Bin Khalifa University (HBKU), Doha 34110, Qatar.
Neurological Disorder Center, Qatar Biomedical Research Institute (QBRI), HBKU, Doha 34110, Qatar.
J Pers Med. 2021 Jan 13;11(1):41. doi: 10.3390/jpm11010041.
Autism spectrum disorder (ASD) is a multifactorial neurodevelopmental disorder characterized by impairments in two main areas: social/communication skills and repetitive behavioral patterns. The prevalence of ASD has increased in the past two decades, however, it is not known whether the evident rise in ASD prevalence is due to changes in diagnostic criteria or an actual increase in ASD cases. Due to the complexity and heterogeneity of ASD, symptoms vary in severity and may be accompanied by comorbidities such as epilepsy, attention deficit hyperactivity disorder (ADHD), and gastrointestinal (GI) disorders. Identifying biomarkers of ASD is not only crucial to understanding the biological characteristics of the disorder, but also as a detection tool for its early screening. Hence, this review gives an insight into the main areas of ASD biomarker research that show promising findings. Finally, it covers success stories that highlight the importance of precision medicine and the current challenges in ASD biomarker discovery studies.
自闭症谱系障碍（ASD）是一种多因素神经发育障碍，其特征在于两个主要方面存在损害：社交/沟通技能和重复行为模式。在过去二十年中，ASD的患病率有所上升，然而，尚不清楚ASD患病率的明显上升是由于诊断标准的变化还是ASD病例的实际增加。由于ASD的复杂性和异质性，症状的严重程度各不相同，并且可能伴有癫痫、注意力缺陷多动障碍（ADHD）和胃肠道（GI）疾病等合并症。识别ASD的生物标志物不仅对于理解该疾病的生物学特征至关重要，而且作为其早期筛查的检测工具也很重要。因此，本综述深入探讨了ASD生物标志物研究的主要领域，这些领域显示出有希望的发现。最后，它涵盖了成功案例，这些案例突出了精准医学的重要性以及ASD生物标志物发现研究中的当前挑战。
