Subphenotype-dependent disease markers for diagnosis and personalized treatment of autism spectrum disorders.
Subphenotype-dependent disease markers for diagnosis and personalized treatment of autism spectrum disorders.
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DOI：
10.3233/dma-2012-0916
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发表时间：
2012
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影响因子：
--
通讯作者：
Hu VW
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文献类型：
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作者：
Hu VW
自闭症谱系障碍（ASD）是一种神经发育障碍的集合，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。如果没有基因或分子标记进行筛查，患有自闭症谱系障碍的个体通常在2岁之前不会被诊断出来，而病情较轻的病例则要晚得多。由于早期诊断等同于早期行为干预，这已被证明可以改善个体预后，因此一种客观的生物标志物测试可以诊断围产期有风险的儿童，这是医学上的当务之急。在美国，ASD的患病率迅速上升（目前估计每88个人中就有1人），这也使得早期诊断和干预成为公共卫生的当务之急。本文综述了近年来全基因组（基因组）鉴定疾病标志物的方法，这些方法不仅可用于ASD的诊断，还可用于针对ASD特定核心症状的新药的开发。由于与ASD人群相关的临床表现的异质性，本综述也强调了将ASD个体划分为临床相关亚表型以寻找合适的生物标志物的重要性。
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.