Folate receptor alpha autoantibodies in children with autism spectrum disorder

Biomarkers. 2022 Dec;27(8):715-719. doi: 10.1080/1354750X.2022.2125579. Epub 2022 Sep 27.

Abstract

Background: Recent research indicates that a number of children with autism generate folate receptor alpha autoantibodies (FRAA), which block transportation of folate across the blood-brain barrier, resulting in cerebral folate deficiency syndrome. Plasma FRAA detection permits precision diagnosis and potentially beneficial folinic acid treatment in FRAA-positive children with autism.

Objectives: To investigate FRAA prevalence in Thai children with autism and evaluate the associations between FRAA-positive status, clinical symptom severity, and adaptive functioning.

Methods: FRAA level was determined in serum samples from 89 children with autism between 2 and 15 years (69 males, 20 females, mean age 7.9 years, SD 3.8). The Childhood Autism Rating Scale-Second Edition (CARS-2) and the Vineland Adaptive Behavior Scales (VABS) were used to evaluate clinical symptom severity and adaptive functioning, respectively.

Results: Of 89 children, 30 (33.7%) were FRAA-positive. FRAA-positive children with autism had significantly poorer mean VABS Adaptive Behavior Composite scores (p = 0.02) and Communication scores (p = 0.02) than FRAA-negative children with autism. There was no association between FRAA level and clinical symptom severity (CARS-2 score) (p = 0.09).

Conclusions: The findings demonstrate the presence of FRAA in children with autism and that FRAA status is associated with poorer adaptive functioning.

Keywords: Folate receptor autoantibody; adaptive functioning; autism spectrum disorder; children; enzyme-linked immunosorbent assay.

MeSH terms

  • Autism Spectrum Disorder* / diagnosis
  • Autoantibodies
  • Child
  • Child, Preschool
  • Female
  • Folate Receptor 1
  • Folic Acid
  • Humans
  • Male
  • Neuroaxonal Dystrophies*

Substances

  • Autoantibodies
  • Folate Receptor 1
  • Folic Acid