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Decision Making with Complex Nonlinear Systems: Inference and Identification in the Context of DS22q11.2

机译:复杂非线性系统的决策:DS22q11.2中的推理和识别

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摘要

A rare gene deletion syndrome, that has in its associated phenome some possible cognitive and psychotic features, has been examined with DNA and fMRI for its causal basis within families and its statistical distribution in populations. Identification of its presence without DNA evidence is problematic as the condition is not stationary nor linear in its properties as the carrier grows older. Within a family its distribution is Mendelian, but there are also complications due to its complexity. A combined approach using both signal detection and an extension of Bayes theorem is a possible approach to discriminating between symptoms that have potentially a multi-causal basis, of which 22q11.2 deletion is only one possibility. Two later issues have arisen, one involving possibly at least two genetically different syndromes that result in similar autism in infancy, the other in statistical problems of prediction. Diagnosis of probable early DS 22q11.2 independent deaths as opposed to survival into adulthood can be wrongly thought to be a case of infanticide, and legal disputes have consequently arisen in the U.K., the USA, and Australia.
机译:已经通过DNA和fMRI检查了一种罕见的基因缺失综合症,该综合症的相关表型具有某些可能的认知和精神病特征,以了解其在家庭内部的因果关系及其在人群中的统计分布。没有DNA证据就无法鉴定其存在是有问题的,因为随着载体的变老,该疾病的状态既不平稳也不线性。在一个家庭中,其分布是孟德尔式的,但由于其复杂性,也存在一些复杂性。使用信号检测和贝叶斯定理扩展的组合方法是一种可能的方法,以区分具有潜在多因果关系的症状,其中22q11.2缺失只是一种可能。后来出现了两个问题,一个可能涉及至少两个遗传上不同的综合症,导致婴儿期自闭症相似,另一个问题涉及预测的统计问题。将DS 22q11.2可能的早期独立死亡诊断为成年后,可能被误认为是杀婴事件,因此在英国,美国和澳大利亚引起了法律纠纷。

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