A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses
Frye, Richard E.
AffiliationUniv Arizona, Coll Med
Keywordsautism spectrum disorders
dried blood spots
mitochondrial fatty acid beta-oxidation
MetadataShow full item record
PublisherFRONTIERS MEDIA SA
CitationBarone R, Alaimo S, Messina M, Pulvirenti A, Bastin J, MIMIC-Autism Group, Ferro A, Frye RE and Rizzo R (2018) A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses. Front. Psychiatry 9:636. doi: 10.3389/fpsyt.2018.00636
JournalFRONTIERS IN PSYCHIATRY
Rights© 2018 Barone, Alaimo, Messina, Pulvirenti, Bastin, MIMIC-Autism Group, Ferro, Frye and Rizzo. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY).
Collection InformationThis item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at firstname.lastname@example.org.
AbstractAutism spectrum disorder (ASD) is currently diagnosed according to behavioral criteria. Biomarkers that identify children with ASD could lead to more accurate and early diagnosis. ASD is a complex disorder with multifactorial and heterogeneous etiology supporting recognition of biomarkers that identify patient subsets. We investigated an easily testable blood metabolic profile associated with ASD diagnosis using high throughput analyses of samples extracted from dried blood spots (DBS). A targeted panel of 45 ASD analytes including acyl-carnitines and amino acids extracted from DBS was examined in 83 children with ASD (60 males; age 6.06 +/- 3.58, range: 2-10 years) and 79 matched, neurotypical (NT) control children (57 males; age 6.8 +/- 4.11 years, range 2.5-11 years). Based on their chronological ages, participants were divided in two groups: younger or older than 5 years. Two-sided T-tests were used to identify significant differences in measured metabolite levels between groups. Naive Bayes algorithm trained on the identified metabolites was used to profile children with ASD vs. NT controls. Of the 45 analyzed metabolites, nine (20%) were significantly increased in ASD patients including the amino acid citrulline and acyl-carnitines C2, C4DC/C5OH, C10, C12, C14:2, C16, C16:1, C18:1 (P: < 0.001). Naive Bayes algorithm using acylcarnitine metabolites which were identified as significantly abnormal showed the highest performances for classifying ASD in children younger than 5 years (n: 42; mean age 3.26 +/- 0.89) with 72.3% sensitivity (95% CI: 71.3;73.9), 72.1% specificity (95% CI: 71.2;72.9) and a diagnostic odds ratio 11.25 (95% CI: 9.47;17.7). Re-test analyses as a measure of validity showed an accuracy of 73% in children with ASD aged <= 5 years. This easily testable, non-invasive profile in DBS may support recognition of metabolic ASD individuals aged <= 5 years and represents a potential complementary tool to improve diagnosis at earlier stages of ASD development.
NoteOpen access journal
VersionFinal published version
SponsorsUniversity of Catania [FIR-2014 ED99F1 MIMIC]; MIUR Fondo per le attivita di base di ricerca
Except where otherwise noted, this item's license is described as © 2018 Barone, Alaimo, Messina, Pulvirenti, Bastin, MIMIC-Autism Group, Ferro, Frye and Rizzo. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY).