An Evaluation of Autonomic Nervous System Function in Patients With Prader-Willi Syndrome

PEDIATRICS ◽  
1994 ◽  
Vol 93 (1) ◽  
pp. 76-81
Author(s):  
Francis J. DiMario ◽  
Barbara Dunham ◽  
Joseph A. Burleson ◽  
Jay Moskovitz ◽  
Suzanne B. Cassidy

Objective. Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder in which many cardinal features may have a neurologically based patho-physiology involving both the central and peripheral components of the autonomic nervous system. Autonomic nervous system function was studied noninvasively in a group of subjects with PWS and control subjects to determine whether autonomic nervous system dysfunction exists as part of the PWS. Design/setting. This cross-sectional study was performed in the neurophysiology laboratory at a tertiary care facility. Methods. Evaluation included anthropometric measurements and calculation of a body mass index (BMI). Simultaneous electrocardiography and serial recordings of pulse rate and systolic/diastolic mean arterial blood pressures during orthostatic maneuvers were taken. Pupillary response to the instillation of dilute pilocarpine and measurements of plasma norepinephrine at rest and after standing were also obtained. Results were analyzed using two-tailed t tests, Fisher exact test, analysis of variance, and analysis of covariance adjusting for age, gender, and BMI. Patients. There were 14 subjects with PWS (8 female, 6 male; aged 4 to 40 years, mean age 16 years) and 8 control subjects (4 female, 4 male; aged 5 to 37 years, mean age 19 years). Results. Abnormal findings were obtained only in subjects with PWS. Analysis of covariance adjusting for age, gender, and BMI revealed a trend for subjects with PWS to have lower resting diastolic blood pressure (P < .09) and significantly less change in diastolic blood pressure after standing (P < .02). Subjects with PWS had significantly greater BMI than did control subjects (P < .001), which correlated significantly with all pulse rate measurements where the greater the BMI the higher the pulse rate at rest (r = .25, P < .04) and the lower the pulse rate after arising from lying to standing at both 15 and 30 seconds (r = .17, P < .1; r = .55, P < .08 respectively). Pupillary constriction of 2 mm or more was seen in 7 of 14 subjects with PWS and in no control subjects (P < .004). The 30:15 R-R interval ratio was abnormal in 6 of 14 subjects with PWS and in no control subjects (P < .03). Conclusions. These results suggest that patients with PWS have a detectable underlying autonomic dysfunction characterized principally by diminished parasympathetic nervous system activity.

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Andrew Grover ◽  
Robert J Brychta ◽  
Megan Startzell ◽  
Kong Chen ◽  
Brandon Marshall ◽  
...  

Abstract Leptin is an adipokine that reflects energy storage levels. Patients with obesity have high leptin, hypertension, and increased cardiovascular disease (CVD) risk. In rodents, leptin increases blood pressure (BP), by increasing sympathetic nervous system (SNS) activity, suggesting high leptin may cause hypertension and CVD. Studies of leptin administration in 2 human models of leptin deficiency (weight reduced and congenital leptin deficiency) showed decreased SNS activity in the leptin-deficient state, which increased after leptin replacement. This has clinical relevance as high SNS and low parasympathetic nervous system (PNS) activity correlate with increased risk of hypertension and CVD. In lipodystrophy syndromes adipose tissue is deficient thus leptin is low. We hypothesized that leptin treatment in patients with lipodystrophy would increase SNS activity and BP. SNS and PNS activity in the heart can be assessed using heart rate variability (HRV). The high frequency (HF) component of HRV is directly related to PNS activity whereas the low frequency (LF) component reflects both SNS and PNS. The LF/HF ratio reflects sympathetic-vagal balance. Lower standard deviation of the beat to beat interval (SDNN) inversely correlates with CVD risk. Leptin-naïve patients with lipodystrophy (N=17, 5 generalized, 12 partial) were housed on an inpatient unit for 19 days. Patients were studied without leptin for the first five days. Leptin was administered for the next 14 days. At the end of the OFF-leptin and ON-leptin periods, 24-hr EKG recordings were used to derive HRV parameters and an automated BP monitor measured BP every 30 minutes during the day and every 60 minutes at night. 5 patients had generalized lipodystrophy (median 25th,75th percentile] endogenous leptin [0.5 [0.4, 0.6] ng/mL); 12 had partial lipodystrophy (leptin 7.5 [3.9, 20.3]). In the combined cohort with generalized and partial lipodystrophy, leptin treatment did not alter BP or any measure of autonomic nervous system function after 24 hours, 2 weeks, or 6 months. In exploratory subgroup analyses of generalized vs partial lipodystrophy, those with generalized lipodystrophy had an increase in LF after 2 weeks of leptin and a 4.5 mm Hg increase in systolic BP after 6 months; no changes were observed in those with partial lipodystrophy. Unlike previous human and rodent studies, we did not see increased SNS tone or BP after leptin treatment in patients with lipodystrophy. However, exploratory analyses in patients with generalized lipodystrophy and very low endogenous leptin levels showed small increases in systolic BP and increased LF component of HRV after 2 weeks, which is regulated by both SNS and PNS. This suggests that leptin may alter autonomic function in the transition from very low to normal plasma leptin levels.


2021 ◽  
Vol 13 (5) ◽  
pp. 2439
Author(s):  
Alexis Espinoza-Salinas ◽  
Edgardo Molina-Sotomayor ◽  
Johnattan Cano-Montoya ◽  
Jose Antonio Gonzalez-Jurado

Autonomic nervous system function is an important predictor of physical fitness. The objective of this study was to find out the associations of autonomic activity parameters, lipid profile, insulin concentrations, and insulin resistance in overweight men with the level of physical activity. A descriptive and correlational study was carried out in 28 overweight men: 14 physically active (PA) and 14 physically inactive (PI). The following variables were assessed: Level of physical activity, HRV (heart rate variability), basal insulin, HOMA-IR index (Homeostasis Model Assessment Insulin-Resistance), and lipid profile. The main results show a positive correlation between the spectral parameters of the HRV and total cholesterol (r = 0.24), LDL (r = 0.59), VLDL (r = 0.86), and insulin (r = 0.88) of sedentary people, evidencing a directly proportional correlation with BMI. We conclude that weight gain and a sedentary lifestyle are associated with an increase in sympathetic discharge, which, in turn, is associated with an increase in lipid profile and insulin levels.


1990 ◽  
Vol 5 (3) ◽  
pp. 251-254 ◽  
Author(s):  
Reetta Kälviäinen ◽  
Tapani Keränen ◽  
Juha Mustonen ◽  
Esko Länsimies ◽  
Paavo Johannes Riekkinen

Author(s):  
Zoe M. Jenkins ◽  
David J. Castle ◽  
Nina Eikelis ◽  
Andrea Phillipou ◽  
Gavin W. Lambert ◽  
...  

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