Faculty of Medicine and Health, Brain and Mind Centre, The University of Sydney, New South Wales, Australia; Faculty of Medicine and Health, Specialty of Child and Adolescent Health, The University of Sydney Children's Hospital Westmead Clinical School, Westmead, New South Wales, Australia.
Faculty of Medicine and Health, Specialty of Child and Adolescent Health, The University of Sydney Children's Hospital Westmead Clinical School, Westmead, New South Wales, Australia.
Int J Psychophysiol. 2024 Nov;205:112429. doi: 10.1016/j.ijpsycho.2024.112429. Epub 2024 Sep 3.
This study aimed to increase our understanding of cardiac activity abnormalities in Prader-Willi Syndrome (PWS) and the relationship between cardiac activity, PWS behaviours thought to be associated with cardiac vagal tone and endogenous oxytocin and vasopressin levels. We compared cardiac activity (respiratory sinus arrhythmia (RSA), low-frequency heart rate variability (LF-HRV), heart period) in 30 adolescents and adults with PWS to 30 typically developing age-matched controls. RSA, LF-HRV, and heart period were lower in individuals with PWS than in the control group. In the control group, RSA was higher for females than males. However, for those with PWS, there was no difference between the sexes. Individuals with the mUPD genetic subtype had lower RSA and LF-HRV than participants with the PWS deletion subtype and compared to typically developing controls, no difference was found between the latter two groups. Heart period was also lower for those with mUPD compared to controls. Higher RSA reduced the odds of having temper outbursts and skin-picking. RSA was lower in those with PWS and psychosis compared to those with PWS without psychosis. Finally, we found RSA correlated with vasopressin for those with mUPD but not deletion. There was no relationship between RSA and oxytocin plasma or saliva levels. Our findings suggest autonomic dysfunction in PWS that is more marked in mUPD than deletion and potentially due to greater loss of parasympathetic activity in mUPD.
本研究旨在深入了解普拉德-威利综合征(PWS)中心脏活动异常,以及心脏活动与被认为与迷走神经张力相关的 PWS 行为、内源性催产素和血管加压素水平之间的关系。我们比较了 30 名青少年和成年 PWS 患者与 30 名年龄匹配的正常对照组的心脏活动(呼吸窦性心律失常(RSA)、低频心率变异性(LF-HRV)、心动周期)。与对照组相比,PWS 患者的 RSA、LF-HRV 和心动周期较低。在对照组中,女性的 RSA 高于男性。然而,对于 PWS 患者,性别之间没有差异。具有 mUPD 遗传亚型的个体的 RSA 和 LF-HRV 低于具有 PWS 缺失亚型的参与者,与正常对照组相比,后两者之间没有差异。与对照组相比,mUPD 患者的心动周期也较低。较高的 RSA 降低了出现脾气爆发和皮肤搔抓的几率。与无精神病的 PWS 患者相比,患有 PWS 和精神病的患者的 RSA 较低。最后,我们发现对于 mUPD 患者,RSA 与血管加压素相关,而与缺失无关。RSA 与催产素血浆或唾液水平之间没有关系。我们的研究结果表明,PWS 存在自主神经功能障碍,mUPD 比缺失更为明显,可能是由于 mUPD 中副交感神经活动的丧失更大。