scholarly journals High rate of autonomic neuropathy in Cornelia de Lange Syndrome

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
M. J. Pablo ◽  
P. Pamplona ◽  
M. Haddad ◽  
I. Benavente ◽  
A. Latorre-Pellicer ◽  
...  

Abstract Background Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in several genes that disrupt gene regulation early in development. Symptoms in individuals with CdLS suggest that the peripheral nervous system (PNS) is involved, yet there is little direct evidence. Method Somatic nervous system was evaluated by conventional motor and sensory nerve conduction studies and autonomic nervous system by heart rate variability, sympathetic skin response and sudomotor testing. CdLS Clinical Score and genetic studies were also obtained. Results Sympathetic skin response and sudomotor test were pathological in 35% and 34% of the individuals with CdLS, respectively. Nevertheless, normal values in large fiber nerve function studies. Conclusions Autonomic nervous system (ANS) dysfunction is found in many individuals with Cornelia de Lange Syndrome, and could be related to premature aging.

2021 ◽  
Author(s):  
Maria Jesus Pablo ◽  
Pilar Pamplona ◽  
Maria Haddad ◽  
Isabel Benavente ◽  
Ana Latorre-Pellicer ◽  
...  

Abstract BackgroundCornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in several genes that disrupt gene regulation early in development. Symptoms in individuals with CdLS suggest that the peripheral nervous system (PNS) is involved, yet there is little direct evidence.MethodSomatic nervous system was evaluated by conventional motor and sensory nerve conduction studies and autonomic nervous system by heart rate variability, sympathetic skin response and sudomotor testing. CdLS Clinical Score and genetic studies were also obtained.ResultsSympathetic skin response and sudomotor test were pathological in 35% and 34% of the individuals with CdLS, respectively. Nevertheless, normal values in large fiber nerve function studies.ConclusionsAutonomic nervous system (ANS) dysfunction is found in many individuals with Cornelia de Lange syndrome, and could be related to premature aging.


Author(s):  
Charles Bolton ◽  
Jillian Thompson ◽  
Linda Bernardi ◽  
Christopher Voll ◽  
Bryan Young

Background and Purpose:The central and peripheral nervous systems are often affected in intensive care unit (ICU) patients, especially those with prolonged assisted ventilation and sepsis or systemic inflammatory response syndrome (SIRS). The autonomic nervous system, however, has been under-investigated in such patients. We evaluated autonomic nervous system (ANS) function in 29 ICU patients with various neurological disorders.Methods:Testing involved cardiac R-R variation (CRRV) as an index of parasympathetic function and the sympathetic skin response (SSR) for sympathetic assessment.Results:Only those 8 patients with sepsis-related neuropathy or encephalopathy had abnormal CRRV, while the SSR was absent in all but 2 patients.Conclusions:Our preliminary study revealed a high incidence of autonomic dysfunction in ICU patients with various neurological disorders.


2014 ◽  
Vol 8 (4) ◽  
pp. 453-461 ◽  
Author(s):  
Ji-Hong Chen ◽  
Qian Zhang ◽  
Xin Liu ◽  
Zhixin Li ◽  
Cuizhen Zhang ◽  
...  

AbstractBackground: Chinese university freshmen receive 4-weeks military training that involved moderate to intense physical exercise. Studies have demonstrated heterogeneous effects of exercise on the autonomic nervous system.Objective: To evaluate the effects of training on the autonomic nervous system noninvasively using electrogastrograms, heart rate variability (HRV), pulse rate, and the sympathetic skin response (SSR).Methods: Twenty freshmen received all assessments in the fasting state and after a standard meal: (1) one week before the training, (2) at the end of the second week of the training, and (3) one week after the training.Results: (1) The training had a significant effect on meal-induced gastric pacemaker activity. Before the training, a standard meal did not increase the dominant frequency of gastric slow waves, but the frequency increased during and after the training; (2) The preprandial high frequency (HF), low frequency (LF), and very low frequency (VLF) components of heart rate variability decreased significantly after the training. The ratio of the LF and HF (LF/HF) of the heart rate variability (HRV) did not significantly change after a meal or training condition. The basal pulse rate did not change. The latencies of the sympathetic skin response (SSR), as measured in the arm muscle, increased in response to the training.Conclusion: Military training affects meal-induced changes in gastric pacemaker activity, causes a marked reduction of the vagal tone to the heart with maintenance of the vagal-sympathetic balance, and its effects on SSR may reflect a reduction in sympathetic tone.


2021 ◽  
Vol 63 (1) ◽  
pp. 65-70
Author(s):  
Sebastian Szyper ◽  
Paweł Zalewski

Introduction: The persistent high rate of disability in people after stroke in Poland and globally requires continuous analysis of the effectiveness of rehabilitation. This review of the global literature analyzes the effectiveness of two therapeutic concepts in relation to changes in the autonomic nervous system and gait quality. Material and Methods: We searched PubMed for available literature using keywords. The search included literature available in English between January 2000 and June 2017. Results: Most studies described in this literature review did not show any significant advantage in terms of effectiveness of neurorehabilitation methods over conventional ones. Conclusions: The effectiveness of rehabilitation focuses mainly on modulating brain plasticity associated with neurologic deficits in the central nervous system, ignoring the autonomic nervous system.


2021 ◽  
pp. rapm-2020-101644
Author(s):  
Ho-Jin Lee ◽  
Kang Hee Lee ◽  
Jee Youn Moon ◽  
Yong-Chul Kim

BackgroundWe aimed to investigate the prevalence of dysautonomia in complex regional pain syndrome (CRPS) via the combined autonomic nervous system (ANS) function tests, including the deep breathing test (DBT), orthostatic test (OST) and sympathetic skin response (SSR).MethodWe retrospectively examined 263 patients who underwent the combined ANS tests to evaluate CRPS between August 2013 and December 2016. Based on the Budapest clinical criteria, patients were stratified into confirmed-CRPS or suspected-CRPS groups. We performed binary logistic regression analysis using the inverse probability of treatment weighting to investigate the association between the tests and CRPS. Sensitivity and specificity were calculated to assess the diagnostic performance of the ANS tests for CRPS. We compared the results of these tests between the outcomes of sympathetic nerve blocks (SNBs).ResultsAmong 247 patients, finally included in this study, 199 patients (80.6%) were diagnosed with CRPS. Abnormal results of overall or each ANS function test showed significant associations with CRPS, excluding OST (overall abnormality: OR 2.44, 95% CI 1.51 to 3.95; p<0.001; DBT: OR 2.57, 95% CI 1.23 to 5.38, p=0.013; OST: OR 1.88, 95% CI 0.92 to 3.84, p=0.085; SSR: OR 2.71, 95% CI 1.38 to 5.32, p=0.004). However, their prevalence in CRPS and their sensitivities for CRPS were low (overall abnormality: 26.1%; each test: <15%). No significant association existed between dysautonomia and SNB outcomes.ConclusionDysautonomia, as evaluated using the combined ANS tests, were observed in a small portion of patients with CRPS. The diagnostic performances of these tests for CRPS were inadequate for clinical purposes.


2020 ◽  
Author(s):  
Valdenilson Ribeiro Ribas Sr

BACKGROUND Functional Neurometry makes Biofeedback tools already demonstrated in the literature, such as: galvanic skin response, cardiac coherence and variability, thermoregulatory and respiratory interact with each other. OBJECTIVE The aim of this study was to report the historical and methodological aspects of the Functional Neurometry protocols. METHODS A review was made in the MEDLINE / PubMed electronic indexing database and in the Web of Science. RESULTS This method intends to synchronize the frequencies of various organs linked to the autonomic nervous system (ANS) to control anxiety. Assessment and training are organized into categories. The categories of the assessment protocol are: 1st) Anxiety Control; 2nd) Physiological Response; 3rd) Baroreflex Index; 4th) hemodynamics; and 5th) Brain Neurometry and the training protocol categories are: I) Sound Anxiety Control; II) Visual Anxiety Control; III) Emotional Variability; IV) Respiratory Amplitude and Frequency; V) Progressive Muscle Relaxation; VI) Functional Physiological Response; VII) Respiratory Functional Capacity; VIII) Heart Rate Variability and IV) Cardiac Coherence. CONCLUSIONS Functional neurometry mainly enables ANS balance.


Author(s):  
Yi Qin ◽  
Huayu Zhang ◽  
Yuni Wang ◽  
Mei Mao ◽  
Fuguo Chen

This paper is made to observe the impact of 3D (three-dimensional) and 2D (two-dimensional) music on autonomic nervous system and to explore the mechanism of the music. This study changes and retains some musical elements of the four music, and 73 healthy participants listened to four music tracks with headphones: 3D slow music, 2D slow music, 3D fast music, and 2D fast music. The results show that galvanic skin response (GSR) data decreased in all participants after listening to 3D music. Among them, the first and third 3D music, which bears obvious characteristics of sound spatial movements, high melody definition, stable rhythm structure, and high timbre identification of the main melody significantly changed participants' GSR compared to the benchmark obtained before the experiment (P&lt;0.05). It can be reasonably argued that 3D music may improve the regulation of autonomic nervous system responses, which contributes to the health of mind and body.


Electronics ◽  
2019 ◽  
Vol 8 (12) ◽  
pp. 1481 ◽  
Author(s):  
Alessandro Tonacci ◽  
Jessica Di Monte ◽  
Maria Beatrice Meucci ◽  
Francesco Sansone ◽  
Anna Paola Pala ◽  
...  

Background: The sense of smell has been recently recognized as one of the most important sensory features in the human being, representing a reliable biomarker for a number of clinical conditions. The relationship between olfactory function and the person’s attitude towards food has frequently been investigated, often using questionnaires. The administration of minimally invasive methods for characterizing autonomic nervous system (ANS) functionality could help in objectivizing such measurements. Methods: The present study assessed ANS activation through the analysis of the electrocardiogram (ECG) and galvanic skin response (GSR) signals, in response to olfactory stimuli using non-invasive wearable devices. The ANS activation was also studied with respect to the odor familiarity, as well as with other olfactory and food dimensions (e.g., odor identification, odor pleasantness, food neophobia). Results: We demonstrated a significant activation of the ANS, in particular of its sympathetic branch, during the olfactory stimulation, with the ECG signal seen as more sensitive to detect ANS response to moderate olfactory stimuli rather than the GSR. Conclusions: When applied to a greater number of subjects, or to specific groups of patients, this methodology could represent a promising, reliable addition to diagnostic methods currently used in clinical settings.


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