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Multivariate techniques enable a biochemical classification of children with autism spectrum disorder versus typically-developing peers: A comparison and validation study.

Daniel P HowsmonTroy VargasonRobert A RubinLeanna DelheyMarie TippettShannon RoseSirish C BennuriJohn C SlatteryStepan MelnykS Jill JamesRichard E FryeJuergen Hahn
Published in: Bioengineering & translational medicine (2018)
Autism spectrum disorder (ASD) is a developmental disorder which is currently only diagnosed through behavioral testing. Impaired folate-dependent one carbon metabolism (FOCM) and transsulfuration (TS) pathways have been implicated in ASD, and recently a study involving multivariate analysis based upon Fisher Discriminant Analysis returned very promising results for predicting an ASD diagnosis. This article takes another step toward the goal of developing a biochemical diagnostic for ASD by comparing five classification algorithms on existing data of FOCM/TS metabolites, and also validating the classification results with new data from an ASD cohort. The comparison results indicate a high sensitivity and specificity for the original data set and up to a 88% correct classification of the ASD cohort at an expected 5% misclassification rate for typically-developing controls. These results form the foundation for the development of a biochemical test for ASD which promises to aid diagnosis of ASD and provide biochemical understanding of the disease, applicable to at least a subset of the ASD population.
Keyphrases
  • autism spectrum disorder
  • attention deficit hyperactivity disorder
  • intellectual disability
  • machine learning
  • deep learning
  • electronic health record
  • big data
  • data analysis
  • artificial intelligence
  • structural basis