The relationship between endogenous oxytocin and vasopressin levels and the Prader-Willi syndrome behaviour phenotype

Lauren J Rice; Josephine Agu; C Sue Carter; James C Harris; Hans P Nazarloo; Habiba Naanai; Stewart L Einfeld

doi:10.3389/fendo.2023.1183525

The relationship between endogenous oxytocin and vasopressin levels and the Prader-Willi syndrome behaviour phenotype

Front Endocrinol (Lausanne). 2023 May 29:14:1183525. doi: 10.3389/fendo.2023.1183525. eCollection 2023.

Authors

Lauren J Rice^{1

2}, Josephine Agu², C Sue Carter^{3

4}, James C Harris⁵, Hans P Nazarloo^{3

4}, Habiba Naanai², Stewart L Einfeld¹

Affiliations

¹ Faculty of Medicine and Health, Brain and Mind Centre, The University of Sydney, Sydney, NSW, Australia.
² Faculty of Medicine and Health, Specialty of Child and Adolescent Health, The University of Sydney Children's Hospital Westmead Clinical School, Sydney, NSW, Australia.
³ Department of Psychology, University of Virginia, Charlottesville, VA, United States.
⁴ Kinsey Institute, Indiana University, Bloomington, IN, United States.
⁵ Department of Psychiatry and Behavioural Sciences and Paediatrics, Johns Hopkins University, Baltimore, MD, United States.

Abstract

Background: Oxytocin and vasopressin systems are altered in Prader Willi syndrome (PWS). However, investigations into endogenous oxytocin and vasopressin levels as well as clinical trials evaluating the effect of exogenous oxytocin on PWS symptoms have had mixed results. It is also unknown whether endogenous oxytocin and vasopressin levels are associated with certain PWS behaviours.

Method: We compared plasma oxytocin and vasopressin and saliva oxytocin levels in 30 adolescents and adults with PWS to 30 typically developing age-matched controls. We also compared neuropeptide levels between gender and genetic subtypes within the PWS cohort and examined the relationship between neuropeptide levels and PWS behaviours.

Results: While we did not measure a group difference in plasma or saliva oxytocin levels, plasma vasopressin was significantly lower in individuals with PWS compared to controls. Within the PWS cohort, saliva oxytocin levels were higher in females compared to males and individuals with the mUPD compared to the deletion genetic subtype. We also found the neuropeptides correlated with different PWS behaviours for males and females and for genetic subtypes. For the deletion group, higher plasma and saliva oxytocin levels were related to fewer behaviour problems. For the mUPD group, higher plasma vasopressin levels were related to more behaviour problems.

Conclusion: These findings support existing evidence of a vasopressin system defect in PWS and for the first time identify potential differences in the oxytocin and vasopressin systems across PWS genetic subtypes.

Keywords: Prader-Willi syndrome; behaviour; oxytocin; plasma; saliva; vasopressin.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Female
Humans
Male
Oxytocin
Phenotype
Plasma
Prader-Willi Syndrome*
Vasopressins

Substances

Oxytocin
Vasopressins

Grants and funding

This study was funded by the Foundation for Prader Willi Research with some additional funding from the Australian Foundation for Prader Willi Research. LR is funded by a 2021 Westpac Research Fellowship and the Ian Potter Foundation Public Health Research Grant (#31110414).