Department of Biochemistry and Molecular Biology, The George Washington University, School of Medicine and Health Sciences, Washington, DC 20037, USA.
Dis Markers. 2012;33(5):277-88. doi: 10.3233/DMA-2012-0916.
Autism spectrum disorders (ASD) are a collection of neurodevelopmental disorders that are currently diagnosed solely on the basis of abnormal reciprocal language and social development as well as stereotyped behaviors. Without genetic or molecular markers for screening, individuals with ASD are typically not diagnosed before the age of 2, with milder cases diagnosed much later. Because early diagnosis is tantamount to early behavioral intervention which has been shown to improve individual outcomes, an objective biomarker test that can diagnose at-risk children perinatally is a medical imperative. The rapidly increasing prevalence of ASD in the United States (now estimated at 1 in 88 individuals) also makes early diagnosis and intervention a public health imperative. This article reviews recent genome-wide (genomic) approaches to the identification of disease markers that may be used not only for diagnosis of ASD, but also for the informed development of novel drugs that target specific core symptoms of ASD. Because of the heterogeneity of clinical manifestations associated with the ASD population, this review also addresses the importance of dividing individuals with ASD into clinically relevant subphenotypes in the quest to identify appropriate biomarkers.
自闭症谱系障碍（ASD）是一组神经发育障碍，目前仅根据异常的互惠语言和社会发展以及刻板行为来诊断。由于没有用于筛查的遗传或分子标记物，ASD 患者通常在 2 岁之前无法被诊断，较轻的病例则诊断得更晚。因为早期诊断等同于早期行为干预，已经证明这可以改善个体的结果，所以能够在围产期对高危儿童进行诊断的客观生物标志物测试是医学的当务之急。自闭症在美国的患病率迅速上升（现在估计每 88 个人中就有 1 个），这也使得早期诊断和干预成为公共卫生的当务之急。本文综述了最近全基因组（基因组）方法识别疾病标志物的研究进展，这些标志物不仅可用于 ASD 的诊断，还可用于开发针对 ASD 特定核心症状的新型药物。由于与 ASD 人群相关的临床表现存在异质性，因此，本文还讨论了将 ASD 患者划分为具有临床意义的亚表型的重要性，以确定合适的生物标志物。
