Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders

Brain Res. 2014 Sep 11;1580:199-218. doi: 10.1016/j.brainres.2014.01.021. Epub 2014 Jan 22.


Oxytocin (OT) and arginine vasopressin (AVP) are two small, related neuropeptide hormones found in many mammalian species, including humans. Dysregulation of these neuropeptides have been associated with changes in behavior, especially social interactions. We review how the OT and AVP systems have been investigated in Autism Spectrum Disorder (ASD), Prader-Willi Syndrome (PWS), Williams Syndrome (WS) and Fragile X syndrome (FXS). All of these neurodevelopmental disorders (NDD) are marked by social deficits. While PWS, WS and FXS have identified genetic mutations, ASD stems from multiple genes with complex interactions. Animal models of NDD are invaluable for studying the role and relatedness of OT and AVP in the developing brain. We present data from a FXS mouse model affecting the fragile X mental retardation 1 (Fmr1) gene, resulting in decreased OT and AVP staining cells in some brain regions. Reviewing the research about OT and AVP in these NDD suggests that altered OT pathways may be downstream from different etiological factors and perturbations in development. This has implications for ongoing studies of the therapeutic application of OT in NDD. This article is part of a Special Issue entitled Oxytocin and Social Behav.

Keywords: Autism; Fragile X; Oxytocin; Prader–Willi; Vasopressin; Williams.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Animals
  • Brain / growth & development
  • Brain / physiopathology
  • Child Development Disorders, Pervasive / drug therapy
  • Child Development Disorders, Pervasive / genetics
  • Child Development Disorders, Pervasive / physiopathology*
  • Fragile X Syndrome / drug therapy
  • Fragile X Syndrome / genetics
  • Fragile X Syndrome / physiopathology*
  • Humans
  • Oxytocin / administration & dosage
  • Oxytocin / metabolism*
  • Prader-Willi Syndrome / genetics
  • Prader-Willi Syndrome / physiopathology*
  • Psychotropic Drugs / administration & dosage
  • Psychotropic Drugs / metabolism
  • Vasopressins / metabolism*
  • Williams Syndrome / genetics
  • Williams Syndrome / physiopathology*


  • Psychotropic Drugs
  • Vasopressins
  • Oxytocin