A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses(317 views)(PDF restricted114 views) Barone R, Alaimo S, Messina M, Pulvirenti A, Bastin J, Group MIMIC-A, F , Frye RE, Rizzo (mimic-ag A, Fiumara R, Meli C, Gulisano M, Maugeri F, Prato A, Russo G, Tabbì G
Front Psychiatry (ISSN: 1664-0640linking, 1664-0640electronic), 2018 Dec 7; 9: 636-636.
Child Neurology and Psychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Referral Centre for Inherited Metabolic Disorders, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Bioinformatics Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Sorbonne Paris Cité, Faculté des Sciences Fondamentales et Biomédicales, Université Paris Descartes, Paris, France.
INSERM, UMR-S 1124, Toxicologie, Pharmacologie et Signalisation Cellulaire, Paris, France.
University of Arizona College of Medicine, Phoenix, AZ, United States.
Phoenix Children's Hospital, Phoenix, AZ, United States.
References: Not available.
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses
Autism 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. Näive 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). Näive Bayes algorithm using acyl-carnitine 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.
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses
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A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses