Development and Validation of a Novel Diagnostic Model for Childhood Autism Spectrum Disorder Based on

Xiaolu Wu1, Ran Li2, Qin Hong1

  • 1Department of Child Health Care, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, China.

Insights

A new diagnostic model using ferroptosis-related genes aids in the early and precise diagnosis of autism spectrum disorder (ASD) in children. This model shows promise for timely intervention and treatment strategies.

Area of Science:

  • Neuroscience
  • Genetics
  • Biochemistry

Background:

  • Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a significant genetic basis.
  • Ferroptosis, a regulated form of cell death, is increasingly implicated in neurological disorders.

Purpose of the Study:

  • To develop a diagnostic model for early and precise diagnosis of childhood ASD using ferroptosis-related genes (FRGs).

Main Methods:

  • Identified differentially expressed genes (DEGs) related to ferroptosis in ASD patients compared to typically developing controls.
  • Utilized random forest analysis to select key FRGs for model construction.
  • Validated the diagnostic model across multiple independent datasets.

Main Results:

  • Identified 27 DEGs and selected four key FRGs for the diagnostic model.
  • The model achieved AUC values of 0.7002 (training) and up to 0.7444 (validation datasets).
  • A regulatory network suggested roles for RORA, EAF1, NFYB, miR-4703-3p, and miR-6073 in ASD development. Piperaquine showed potential as an ASD therapeutic.

Conclusions:

  • A novel diagnostic model based on FRGs can aid in the precision diagnosis of childhood ASD.
  • The findings support the role of ferroptosis in ASD pathogenesis and suggest potential therapeutic targets.

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