title: The urinary1H-NMR metabolomics profile of an italian autistic children population and their unaffected siblings.
abstract: Autism spectrum disorders (ASD) make a dishomogeneous group of psychiatric diseases having either genetic and environmental components, including changes of the microbiota. The rate of diagnosis, based on a series of psychological tests and observed behavior, dramatically increased in the past few decades. Currently, no biological markers are available and the pathogenesis is not defined. The purpose of this study was to evaluate the potential use of1H-NMR metabolomics to analyze the global biochemical signature of ASD patients (n = 21) and controls (n = 21), these being siblings of autistic patients. A multivariate model has been used to extrapolate the variables of importance. The discriminating urinary metabolites were identified; in particular, significantly increased levels of hippurate, glycine, creatine, tryptophan, and d-threitol and decreased concentrations of glutamate, creatinine, lactate, valine, betaine, and taurine were observed in ASD patients. Based on the identified discriminant metabolites, the attention was focused on two possible mechanisms that could be involved in ASD: oxidative stress conditions and gut microflora modifications. In conclusion, nuclear magnetic resonance-based metabolomics analysis of the urine seems to have the potential for the identification of a metabolic fingerprint of ASD phenotypes and appears to be suitable for further investigation of the disease mechanisms. Autism Res 2017. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Autism Res 2017, 10: 1058-1066. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.
authors.affiliation: Department of Biomedical Sciences, University of Cagliari, Cagliari, Italy.
authors.forename: Milena
authors.initials: M
authors.lastname: Lussu
authors.affiliation: Department of Surgical Sciences, University of Cagliari and Neonatal Intensive Care Unit, Puericulture Institute and Neonatal Section, Azienda Ospedaliera Universitaria Cagliari, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Noto
authors.affiliation: Department of Surgical Sciences, University of Cagliari and Neonatal Intensive Care Unit, Puericulture Institute and Neonatal Section, Azienda Ospedaliera Universitaria Cagliari, Italy.
authors.forename: Alice
authors.initials: A
authors.lastname: Masili
authors.affiliation: Department of Biomedical Sciences, University of Cagliari, Cagliari, Italy.
authors.forename: Andrea C
authors.initials: AC
authors.lastname: Rinaldi
authors.affiliation: Department of Surgical Sciences, University of Cagliari and Neonatal Intensive Care Unit, Puericulture Institute and Neonatal Section, Azienda Ospedaliera Universitaria Cagliari, Italy.
authors.forename: Angelica
authors.initials: A
authors.lastname: Dessì
authors.affiliation: Department of Soil, Plant and Food Sciences, University of Bari Aldo Moro, Bari, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: De Angelis
authors.affiliation: Child Neurological and Psychiatric Unit, Department of Neurological and Psychiatric Sciences, University of Bari Aldo Moro, Bari, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: De Giacomo
authors.affiliation: Department of Surgical Sciences, University of Cagliari and Neonatal Intensive Care Unit, Puericulture Institute and Neonatal Section, Azienda Ospedaliera Universitaria Cagliari, Italy.
authors.forename: Vassilios
authors.initials: V
authors.lastname: Fanos
authors.affiliation: Department of Biomedical Sciences, University of Cagliari, Cagliari, Italy.
authors.forename: Luigi
authors.identifier: http://orcid.org/0000-0002-0606-4959
authors.initials: L
authors.lastname: Atzori
authors.affiliation: Interdisciplinary Department of Medicine-Paediatric Section, University of Bari, Italy.
authors.forename: Ruggiero
authors.initials: R
authors.lastname: Francavilla
mesh_terms: D000293:Adolescent; D000067877:Autism Spectrum Disorder / Q000652:urine*; D015415:Biomarkers / Q000652:urine; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006859:Hydrogen; D007558:Italy; D009682:Magnetic Resonance Spectroscopy / Q000379:methods*; D008297:Male; D055432:Metabolomics / Q000379:methods*; D035781:Siblings
chemical_list: D015415:Biomarkers; D006859:Hydrogen
keywords: autistic children; biomarkers; metabolomics; siblings