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Studying Autism Using Untargeted Metabolomics in Newborn Screening Samples.

Julie Courraud1,2, Madeleine Ernst3,4, Susan Svane Laursen3

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Autism spectrum disorder (ASD) research shows that newborn blood spot samples can detect early biochemical markers. While not distinguishing cases, the study identified potential markers present at birth, useful for newborn screening.

Keywords:
Autism spectrum disorderBiomarkersDried blood spotsNewborn screeningUntargeted metabolomics

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Area of Science:

  • Biochemistry
  • Genetics
  • Neonatal screening

Background:

  • Autism spectrum disorder (ASD) risk involves genetic and environmental factors, including prenatal and perinatal events.
  • Newborn screening using dried blood spot (DBS) samples offers potential for early disease marker detection.
  • Understanding DBS utility is crucial for advancing ASD research and early detection strategies.

Purpose of the Study:

  • To evaluate the strengths and limitations of dried blood spot (DBS) metabolomics for autism spectrum disorder (ASD) research.
  • To analyze metabolomic profiles in newborns later diagnosed with ASD using DBS samples.
  • To identify potential early biochemical markers for ASD detectable at birth.

Main Methods:

  • Employed LC-MS/MS-based untargeted metabolomics on DBS samples from 37 case-control pairs.
  • Utilized MZmine 2.41 for preprocessing and mzCloud, GNPS, and MolNetEnhancer for metabolite annotation.
  • Detected 4360 mass spectral features, with 150 putatively annotated at high confidence.

Main Results:

  • No clear metabolomic distinction was found between ASD cases and controls in newborn DBS.
  • The study successfully identified numerous metabolites previously linked to ASD.
  • Gestational age, sampling age, and birth month were identified as significant confounders influencing DBS metabolomic profiles.

Conclusions:

  • Biochemical markers associated with ASD appear to be present at birth.
  • Newborn screening programs could potentially monitor these early ASD biomarkers.
  • Further research must account for identified confounders like gestational age and birth timing.