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Reduced Respiratory Sinus Arrhythmia in Infants with the FMR1 Premutation

Abigail Chase1, Lisa Hamrick2,3, Holley Arnold2,3

  • 1School of Medicine, University of South Carolina, Columbia, SC 29209, USA.

International Journal of Molecular Sciences
|March 13, 2025
PubMed

Insights

Fragile X premutation (FXpm) infants show autonomic nervous system (ANS) differences, specifically lower respiratory sinus arrhythmia (RSA). This identifies a potential early biomarker for FXpm in infants.

Area of Science:

  • Neuroscience
  • Genetics
  • Pediatrics

Background:

  • Fragile X premutation (FXpm) involves CGG repeat expansion in the FMR1 gene.
  • Adult FXpm is associated with autonomic nervous system (ANS) dysfunction, linked to CGG repeat length.
  • Limited research exists on ANS function in infants with FXpm.

Purpose of the Study:

  • To investigate ANS functioning in infants with FXpm.
  • To assess autonomic markers like respiratory sinus arrhythmia (RSA) and interbeat interval (IBI).
  • To explore the relationship between ANS function and CGG repeat length in infants.

Main Methods:

  • Studied 82 infants: 41 with FXpm and 41 neurotypical controls.
  • Measured ANS function using RSA and IBI.
  • Correlated ANS measures with CGG repeat length.

Main Results:

  • FXpm infants demonstrated significantly lower RSA compared to controls.
  • No significant differences in interbeat interval (IBI) were observed between groups.
  • No association was found between ANS functioning (RSA or IBI) and CGG repeat length.

Conclusions:

  • Infants with FXpm exhibit altered ANS function, indicated by reduced RSA.
  • Lower RSA may serve as an early biomarker for the pediatric FXpm phenotype.
  • Further research is needed to understand the long-term implications of these findings.

Keywords:
CGG repeat lengthFMR1 premutationautonomic nervous systeminterbeat intervalrespiratory sinus arrhythmia

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