Methods for the diagnosis, risk assessment, and monitoring of autism spectrum disorders

A method for diagnosing a human subject's Autism Spectrum Disorder (ASD) health state or change in ASD health state or identifying a human subject's risk of ASD, the method comprising the steps of:

• a) analyzing at least one blood sample from said subject using an analytic device or system comprising a mass spectrometer;
• to obtain quantifying data for one or more than one metabolite marker;
• b) comparing the quantifying data for said one or more than one metabolite marker to corresponding data obtained from one or more than one reference blood sample to identify an increase or decrease in the level of said one or more than one metabolite marker in said blood sample;
• and
• c) using said increase or decrease in the level of said one or more than one metabolite marker to diagnose the human subject's ASD health state or change in ASD health state, or to identify the risk of ASD in said subject,
• wherein the one or more than one metabolite marker comprises one or more than one molecule selected from the group consisting of ethanolamine phospholipids;
• docosahexaenoic acid (DHA)-containing phospholipids;
• DHA precursor-containing phospholipids;
• catabolic products of DHA beta-oxidation-containing phospholipids;
• polyunsaturated very long chain fatty acids (VLCFA) containing phospholipids;
• and combinations thereof, and
• wherein the human subject is diagnosed with ASD based on having:
• elevated levels of ethanolamine phospholipids containing saturated or monounsaturated VLCFA, docosahexaenoic acid (22:6, DHA), VLCFA DHA precursor (24:5, 24:6), catabolic products of DHA beta-oxidation (20:6), or polyunsaturated VLCFA;
• decreased levels of ethanolamine phospholipids containing 18:3, 20:3, 22:3, 24:3 fatty acids;
• or combinations thereof.