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SCREENING, DIAGNOSIS AND PROGNOSIS OF AUTISM AND OTHER DEVELOPMENTAL DISORDERS

机译:自闭症及其他发育障碍的筛查,诊断和预后

摘要

The invention provides a method and system combining functional genomic and genetic, proteomic, anatomic neuroimaging, functional neuroimaging, behavioral and clinical measurements and data analyses for autism pediatric population screening, diagnosis or prognosis. More specifically, the invention provides a weighted gene and feature test for autism which uses a weighted gene signature matrix for comparison to a reference database of healthy and afflicted individuals. The invention also provides normalized gene expression value signatures for comparison to a reference database. The invention additionally combines either the weighted gene or the normalized gene analysis with comparisons to a gene-networks signature matrix, a multi-modal signature matrix, and a collateral features signature matrix for improved accuracy in screening, diagnostic and prognostic relevance for autism, particularly for newborns, babies ages birth to 1 year, toddlers ages 1 to 2 years, toddlers ages 2 to 3 years and young children ages 3 through 4 years.
机译:本发明提供了结合功能基因组和遗传,蛋白质组学,解剖学神经影像学,功能神经影像学,行为和临床测量以及数据分析的方法和系统,用于自闭症儿科人群的筛选,诊断或预后。更具体地,本发明提供了针对自闭症的加权基因和特征测试,其使用加权基因签名矩阵来与健康和患病个体的参考数据库进行比较。本发明还提供了标准化的基因表达值签名,用于与参考数据库进行比较。本发明另外将加权基因或归一化基因分析与基因网络签名矩阵,多模式签名矩阵和附带特征签名矩阵的比较相结合,以提高自闭症尤其是自闭症的筛查,诊断和预后相关性的准确性。适用于新生儿,出生至1岁的婴儿,1至2岁的幼儿,2至3岁的幼儿和3至4岁的幼儿。

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