Metabolomics analysis of children with autism, idiopathic-developmental delays, and Down syndrome

Jennie Sotelo Orozco, Irva Hertz-Picciotto, Leonard Abbeduto, Carolyn M. Slupsky

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Although developmental delays affect learning, language, and behavior, some evidence suggests the presence of disturbances in metabolism are associated with psychiatric disorders. Here, the plasma metabolic phenotype of children with autism spectrum disorder (ASD, n = 167), idiopathic-developmental delay (i-DD, n = 51), and Down syndrome (DS, n = 31), as compared to typically developed (TD, n = 193) controls was investigated in a subset of children from the case–control Childhood Autism Risk from Genetics and the Environment (CHARGE) Study. Metabolome profiles were obtained using nuclear magnetic resonance spectroscopy and analyzed in an untargeted manner. Forty-nine metabolites were identified and quantified in each sample that included amino acids, organic acids, sugars, and other compounds. Multiple linear regression analysis revealed significant associations between 11 plasma metabolites and neurodevelopmental outcome. Despite the varied origins of these developmental disabilities, we observed similar perturbation in one-carbon metabolism pathways among DS and ASD cases. Similarities were also observed in the DS and i-DD cases in the energy-related tricarboxylic acid cycle. Other metabolites and pathways were uniquely associated with DS or ASD. By comparing metabolic signatures between these conditions, the current study expands on extant literature demonstrating metabolic alterations associated with developmental disabilities and provides a better understanding of overlapping vs specific biological perturbations associated with these disorders.

Original languageEnglish (US)
Article number243
JournalTranslational Psychiatry
Volume9
Issue number1
DOIs
StatePublished - Dec 1 2019

Fingerprint

Developmental Disabilities
Metabolomics
Autistic Disorder
Down Syndrome
Sugar Acids
Citric Acid Cycle
Metabolome
Psychiatry
Linear Models
Magnetic Resonance Spectroscopy
Language
Carbon
Regression Analysis
Learning
Phenotype
Amino Acids
Autism Spectrum Disorder

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience
  • Biological Psychiatry

Cite this

Metabolomics analysis of children with autism, idiopathic-developmental delays, and Down syndrome. / Orozco, Jennie Sotelo; Hertz-Picciotto, Irva; Abbeduto, Leonard; Slupsky, Carolyn M.

In: Translational Psychiatry, Vol. 9, No. 1, 243, 01.12.2019.

Research output: Contribution to journalArticle

@article{791c6a3a1f6a4eb3bcd3e93c257d2268,
title = "Metabolomics analysis of children with autism, idiopathic-developmental delays, and Down syndrome",
abstract = "Although developmental delays affect learning, language, and behavior, some evidence suggests the presence of disturbances in metabolism are associated with psychiatric disorders. Here, the plasma metabolic phenotype of children with autism spectrum disorder (ASD, n = 167), idiopathic-developmental delay (i-DD, n = 51), and Down syndrome (DS, n = 31), as compared to typically developed (TD, n = 193) controls was investigated in a subset of children from the case–control Childhood Autism Risk from Genetics and the Environment (CHARGE) Study. Metabolome profiles were obtained using nuclear magnetic resonance spectroscopy and analyzed in an untargeted manner. Forty-nine metabolites were identified and quantified in each sample that included amino acids, organic acids, sugars, and other compounds. Multiple linear regression analysis revealed significant associations between 11 plasma metabolites and neurodevelopmental outcome. Despite the varied origins of these developmental disabilities, we observed similar perturbation in one-carbon metabolism pathways among DS and ASD cases. Similarities were also observed in the DS and i-DD cases in the energy-related tricarboxylic acid cycle. Other metabolites and pathways were uniquely associated with DS or ASD. By comparing metabolic signatures between these conditions, the current study expands on extant literature demonstrating metabolic alterations associated with developmental disabilities and provides a better understanding of overlapping vs specific biological perturbations associated with these disorders.",
author = "Orozco, {Jennie Sotelo} and Irva Hertz-Picciotto and Leonard Abbeduto and Slupsky, {Carolyn M.}",
year = "2019",
month = "12",
day = "1",
doi = "10.1038/s41398-019-0578-3",
language = "English (US)",
volume = "9",
journal = "Translational Psychiatry",
issn = "2158-3188",
publisher = "Nature Publishing Group",
number = "1",

}

TY - JOUR

T1 - Metabolomics analysis of children with autism, idiopathic-developmental delays, and Down syndrome

AU - Orozco, Jennie Sotelo

AU - Hertz-Picciotto, Irva

AU - Abbeduto, Leonard

AU - Slupsky, Carolyn M.

PY - 2019/12/1

Y1 - 2019/12/1

N2 - Although developmental delays affect learning, language, and behavior, some evidence suggests the presence of disturbances in metabolism are associated with psychiatric disorders. Here, the plasma metabolic phenotype of children with autism spectrum disorder (ASD, n = 167), idiopathic-developmental delay (i-DD, n = 51), and Down syndrome (DS, n = 31), as compared to typically developed (TD, n = 193) controls was investigated in a subset of children from the case–control Childhood Autism Risk from Genetics and the Environment (CHARGE) Study. Metabolome profiles were obtained using nuclear magnetic resonance spectroscopy and analyzed in an untargeted manner. Forty-nine metabolites were identified and quantified in each sample that included amino acids, organic acids, sugars, and other compounds. Multiple linear regression analysis revealed significant associations between 11 plasma metabolites and neurodevelopmental outcome. Despite the varied origins of these developmental disabilities, we observed similar perturbation in one-carbon metabolism pathways among DS and ASD cases. Similarities were also observed in the DS and i-DD cases in the energy-related tricarboxylic acid cycle. Other metabolites and pathways were uniquely associated with DS or ASD. By comparing metabolic signatures between these conditions, the current study expands on extant literature demonstrating metabolic alterations associated with developmental disabilities and provides a better understanding of overlapping vs specific biological perturbations associated with these disorders.

AB - Although developmental delays affect learning, language, and behavior, some evidence suggests the presence of disturbances in metabolism are associated with psychiatric disorders. Here, the plasma metabolic phenotype of children with autism spectrum disorder (ASD, n = 167), idiopathic-developmental delay (i-DD, n = 51), and Down syndrome (DS, n = 31), as compared to typically developed (TD, n = 193) controls was investigated in a subset of children from the case–control Childhood Autism Risk from Genetics and the Environment (CHARGE) Study. Metabolome profiles were obtained using nuclear magnetic resonance spectroscopy and analyzed in an untargeted manner. Forty-nine metabolites were identified and quantified in each sample that included amino acids, organic acids, sugars, and other compounds. Multiple linear regression analysis revealed significant associations between 11 plasma metabolites and neurodevelopmental outcome. Despite the varied origins of these developmental disabilities, we observed similar perturbation in one-carbon metabolism pathways among DS and ASD cases. Similarities were also observed in the DS and i-DD cases in the energy-related tricarboxylic acid cycle. Other metabolites and pathways were uniquely associated with DS or ASD. By comparing metabolic signatures between these conditions, the current study expands on extant literature demonstrating metabolic alterations associated with developmental disabilities and provides a better understanding of overlapping vs specific biological perturbations associated with these disorders.

UR - http://www.scopus.com/inward/record.url?scp=85072923944&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85072923944&partnerID=8YFLogxK

U2 - 10.1038/s41398-019-0578-3

DO - 10.1038/s41398-019-0578-3

M3 - Article

C2 - 31582732

AN - SCOPUS:85072923944

VL - 9

JO - Translational Psychiatry

JF - Translational Psychiatry

SN - 2158-3188

IS - 1

M1 - 243

ER -