Cardiac autonomic regulation in autism and fragile X syndrome: A review

Jessica Klusek*, Jane E. Roberts, Molly Losh

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

73 Scopus citations


Despite the significance of efforts to understand the biological basis of autism, progress in this area has been hindered, in part, by the considerable heterogeneity in the disorder. Fragile X syndrome (FXS), a monogenic condition associated with high risk for autism, may pave the way for the dissection of biological heterogeneity within idiopathic autism. This article adopts a cross-syndrome biomarker approach to evaluate potentially overlapping profiles of cardiac arousal dysregulation (and broader autonomic dysfunction) in autism and FXS. Approaches such as this, aimed at delineating shared mechanisms across genetic syndromes, hold great potential for improving diagnostic precision, promoting earlier identification, and uncovering key systems that can be targeted in pharmaceutical/behavioral interventions. Biomarker approaches may be vital to deconstructing complex psychiatric disorders and are currently promoted as such by major research initiatives such as the NIMH Research Domain Criteria (RDoC). Evidence reviewed here supports physiological dysregulation in a subset of individuals with autism, as evidenced by patterns of hyperarousal and dampened parasympathetic vagal tone that overlap with the well-documented physiological profile of FXS. Moreover, there is growing support for a link between aberrant cardiac activity and core deficits associated with autism, such as communication and social impairment. The delineation of physiological mechanisms common to autism and FXS could lend insight into relationships between genetic etiology and behavioral endstates, highlighting FMR1 as a potential candidate gene. Research gaps and potential pitfalls are discussed to inform timely, wellcontrolled biomarker research that will ultimately promote better diagnosis and treatment of autism and associated conditions.

Original languageEnglish (US)
Pages (from-to)141-175
Number of pages35
JournalPsychological bulletin
Issue number1
StatePublished - 2015


  • Autism spectrum disorder
  • Autonomic nervous system
  • Fragile X syndrome
  • Physiological arousal
  • Vagal tone

ASJC Scopus subject areas

  • General Psychology


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