Symptoms Of Autonomic Dysfunction Research Articles

Colour changes in the feet: a sign of autonomic symptoms in systemic sclerosis

Abstract Objectives Patients with autonomic dysfunction, or dysautonomia, often report discolouration of their dependent extremities, which is thought to be from venous pooling or acrocyanosis. A subset of patients with SSc are affected by dysautonomia but may be challenging to identify. We sought to determine whether patients with SSc who report discolouration in their feet have a higher burden of autonomic symptoms, including orthostatic, gastrointestinal (GI), urinary, secretomotor and pupillomotor. Methods 167 patients with SSc completed the Composite Autonomic Symptom Score (COMPASS)-31 survey, which queries whether the patient experiences discolouration of the feet or hands. We compared the COMPASS-31 subdomain scores between SSc patients with and without foot discolouration. Seventy-nine patients with postural orthostatic tachycardia syndrome (POTS) also completed the COMPASS-31 questionnaire for comparison. Results We found that extremity discolouration is common in POTS and more often affects the feet, whereas in SSc, the hands are more frequently involved; 62% of SSc patients report colour changes in their feet. These patients are more likely to have other autonomic symptoms, including orthostatic (11.7 ± 10.6 vs 8.6 ± 9.9, P = 0.06), GI (11.3 ± 4.3 vs 8.8 ± 4.3, P = 0.0003), urinary (1.4 ± 1.5 vs 0.8 ± 1.3, P = 0.002) and secretomotor (7.0 ± 3.8 vs 5.9 ± 3.8, P = 0.06) symptoms. These associations persist in a multivariable model after adjusting for potential confounders. Conclusion Dependent extremity discolouration is common in dysautonomia. Patients with SSc who report colour changes in their feet are more likely to report other symptoms of autonomic dysfunction.

Quality of life in SCN1A-related seizure disorders across the lifespan.

This cohort study aims to describe the evolution of disease features and health-related quality of life per life stage in Dravet syndrome and other SCN1A-related non-Dravet seizure disorders which will enable treating physicians to provide tailored care. Health-related quality of life and disease features were assessed cross-sectionally in participants with a SCN1A-related seizure disorder, categorized per age group for Dravet syndrome, and longitudinally over seven years follow-up (2015-2022). Data were collected from questionnaires, medical records, and semi-structured telephonic interviews. Health-related quality of life was measured with the Paediatric Quality of Life Inventory, proxy-reported for participants with Dravet syndrome and for participants with non-Dravet aged younger than 18 years old and self-reported for participants with non-Dravet over 18 years old. Associations between health-related quality of life and disease features were explored with multivariable regression analyses, cross-sectionally in a cohort of 115 patients with Dravet and 48 patients with generalized epilepsy with febrile seizures plus and febrile seizures (non-Dravet) and longitudinally in a cohort of 52 Dravet patients and 13 non-Dravet patients. In the cross-sectional assessment in 2022, health-related quality of life was significantly lower in Dravet syndrome, compared to non-Dravet and normative controls. Health-related quality of life in the School and Psychosocial domain was significantly higher in older Dravet age groups. A higher health-related quality of life was associated with fewer behavioural problems [β = -1.1; 95% confidence interval (CI), (-1.4 to -0.8)], independent walking (β = 8.5; 95%CI (4.2-12.8)), compared to the use of a wheelchair), and fewer symptoms of autonomic dysfunction (β = -2.1, 95%CI (-3.2 to -1.0)). Longitudinally, health-related quality of life was significantly higher seven years later in the course of disease in Dravet participants (Δ8.9 standard deviation (SD) 18.0, P < 0.05), mediated by a lower prevalence of behavioural problems (β = -1.2, 95%CI (-2.0 to -0.4)), lower seizure frequency (β = -0.1, 95%CI (-0.2 to -0.0)) and older age (β = 0.03, 95%CI (0.01-0.04)). In summary, health-related quality of life was significantly higher at older age in Dravet syndrome. This finding may reflect the benefits of an advanced care strategy in recent years and a ceiling of severity of disease symptoms, possibly resulting in an increased wellbeing of parents and patients. The strong association with behavioural problems reinforces the need to incorporate a multidisciplinary approach, tailored to the age-specific needs of this patient group, into standard care.

Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder characterized by hypoventilation due to impaired breathing control by the central nervous system and other symptoms of autonomic dysfunction. Mutations in paired-like homeobox 2 B (PHOX2B) are responsible for most cases of CCHS. Patients with CCHS have various phenotypes and severities, making the diagnosis difficult. This study aimed to present a comprehensive single-center experience of patients with CCHS, including key clinical features, treatment strategies, and outcomes. A retrospective chart review was performed for patients diagnosed with CCHS between January 2001 and July 2023 at Seoul National University Children’s Hospital. Finally, we selected 24 patients and collected their demographic data, genotypes, ventilation methods, and clinical features related to autonomic dysfunction. The relationship between the clinical manifestations and genotypes was also examined. All patients used home ventilators, and tracheostomy was performed in 87.5% of patients. Fifteen (62.5%) patients had constipation and nine (37.5%) were diagnosed with Hirschsprung disease. Arrhythmia, endocrine dysfunction, and subclinical hypothyroidism were present in nine (37.5%), six patients (25.0%), and two patients (16.7%), respectively. A significant number of patients exhibited neurodevelopmental delays (19 patients, 79.2%). There was a correlation between the phenotype and genotype of PHOX2B in patients with CCHS. (r = 0.71, p < 0.001). Conclusion: There was a positive correlation between paired-like homeobox 2 B mutations (especially the number of GCN repeats in the polyalanine repeat mutations sequence) and clinical manifestations. This study also demonstrated how initial treatment for hypoventilation affects neurodevelopmental outcomes in patients with CCHS.What is Known:• Congenital central hypoventilation syndrome is a rare genetic disorder characterized by hypoventilation and dysfunction of autonomic nervous system.• The disease-defining gene of CCHS isPHOX2Bgene – most of the cases have heterozygous PARMs and the number of GCN triplets varies among the patients(20/24 – 20/33).What is New:• We have noted in the Korean patients with CCHS that there is a correlation between genotype (number of GCN repeats) and severity of phenotype.• National support for rare diseases allowed for a prompter diagnosis of patients with CCHS in Korean population.

Cardiovascular autonomic failure in hereditary transthyretin amyloidosis and TTR carriers is an early and progressive disease marker.

The cardiomyopathic and neuropathic phenotype of hereditary transthyretin amyloidosis are well recognized. Cardiovascular autonomic dysfunction is less systematically and objectively assessed. Autonomic and clinical features, quantitative cardiovascular autonomic function, and potential autonomic prognostic markers of disease progression were recorded in a cohort of individuals with hereditary transthyretin amyloidosis and in asymptomatic carriers of TTR variants at disease onset (T0) and at the time of the first quantitative autonomic assessment (T1). The severity of peripheral neuropathy and its progression was stratified with the polyneuropathy disability score. A total of 124 individuals were included (111 with a confirmed diagnosis of hereditary transthyretin amyloidosis, and 13 asymptomatic carriers of TTR variants). Symptoms of autonomic dysfunction were reported by 27% individuals at T0. Disease duration was 4.5 ± 4.0years [mean ± standard deviation (SD)] at autonomic testing (T1). Symptoms of autonomic dysfunction were reported by 78% individuals at T1. Cardiovascular autonomic failure was detected by functional testing in 75% individuals and in 64% of TTR carriers. Progression rate from polyneuropathy disability stages I/II to III/IV seemed to be shorter for individuals with autonomic symptoms at onset [2.33 ± 0.56 versus 4.00 ± 0.69years (mean ± SD)]. Cardiovascular autonomic dysfunction occurs early and frequently in individuals with hereditary transthyretin amyloidosis within 4.5years from disease onset. Cardiovascular autonomic failure can be subclinical in individuals and asymptomatic carriers, and only detected with autonomic function testing, which should be considered a potential biomarker for early diagnosis and disease progression.

Post-COVID postural orthostatic tachycardia syndrome (POTS): a new phenomenon.

The impact of COVID-19 has been far-reaching, and the field of neurology is no exception. Due to the long-hauler effect, a variety of chronic health consequences have occurred for some post-COVID patients. A subset of these long-hauler patients experienced symptoms of autonomic dysfunction and tested positive for postural orthostatic tachycardia syndrome (POTS) via autonomic testing. We conducted a chart review of a convenience sample from patients seen by neurologists at our tertiary care center for suspicion of post-COVID POTS. Patients included in our study had clearly defined POTS based on clinical criteria and positive tilt table test, were 81.25% female, and had an average age of approximately 36. Out of 16 patients, 12 had a confirmed positive COVID test result, with the remaining 4 having strong clinical suspicion for COVID infection. Our analysis examined the most bothersome 3 symptoms affecting each patient per the neurologist's note at their initial visit for post-COVID POTS, clinical presentation, comorbidities, neurological exam findings, autonomic testing results, and COMPASS-31 autonomic questionnaire and PROMIS fatigue survey results. Palpitations (68.75%) and fatigue (62.5%) were the most common of the impactful symptoms reported by patients in their initial Cleveland Clinic neurology visit. The most frequent comorbidities in our sample were chronic migraines (37.5%), irritable bowel syndrome (IBS) (18.75%), and Raynaud's (18.75%). Neurological exam findings and autonomic testing results other than tilt table yielded variable findings without clear trends. Survey results showed substantial autonomic symptom burden (COMPASS-31 autonomic questionnaire average score 44.45) and high levels of fatigue (PROMIS fatigue survey average score 64.64) in post-COVID POTS patients. Our sample of post-COVID POTS patients are similar to the diagnosed POTS general population including in comorbidities and autonomic testing. Fatigue was identified by patients as a common and debilitating symptom. We hope that our study will be an early step toward further investigation of post-COVID POTS with focus on the trends identified in this chart review.

Long-COVID-19 autonomic dysfunction: An integrated view in the framework of inflammaging

The recently identified syndrome known as Long COVID (LC) is characterized by a constellation of debilitating conditions that impair both physical and cognitive functions, thus reducing the quality of life and increasing the risk of developing the most common age-related diseases. These conditions are linked to the presence of symptoms of autonomic dysfunction, in association with low cortisol levels, suggestive of reduced hypothalamic-pituitary-adrenal (HPA) axis activity, and with increased pro-inflammatory condition. Alterations of dopamine and serotonin neurotransmitter levels were also recently observed in LC. Interestingly, at least some of the proposed mechanisms of LC development overlap with mechanisms of Autonomic Nervous System (ANS) imbalance, previously detailed in the framework of the aging process. ANS imbalance is characterized by a proinflammatory sympathetic overdrive, and a concomitant decreased anti-inflammatory vagal parasympathetic activity, associated with reduced anti-inflammatory effects of the HPA axis and cholinergic anti-inflammatory pathway (CAP). These neuro-immune-endocrine system imbalanced activities fuel the vicious circle of chronic inflammation, i.e. inflammaging. Here, we refine our original hypothesis that ANS dysfunction fuels inflammaging and propose that biomarkers of ANS imbalance could also be considered biomarkers of inflammaging, recognized as the main risk factor for developing age-related diseases and the sequelae of viral infections, i.e. LC.

Postural orthostatic tachycardia syndrome and other autonomic dysfunctions following COVID-19: Incidence, characteristics, and associated factors.

Long-COVID syndrome has become a new health concern. Many major clinical centers have experienced more patients with symptoms suggestive of autonomic dysfunction, especially postural orthostatic tachycardia syndrome (POTS) following COVID-19. However, there is a lack of information regarding the incidence and associated factors in Asian population. A retro-prospective study was conducted to evaluate patients with symptoms suggestive of POTS or other autonomic dysfunctions. These symptoms last at least 3 months after PCR-proven COVID-19. Exclusion criteria were age under 18 years old, pregnancy, and pre-COVID-19 autonomic dysfunction symptoms. Patients with a symptom severity score greater than two were assessed with blood tests, 24-h Holter, 24-h ambulatory blood pressure, echocardiogram, and head-up tilt table (HUTT). Seven hundred ninety-three patients were interviewed at 146 ± 37 days after COVID-19. The majority of patients were middle-aged females (53%). Of those, 15 patients had the symptom severity score greater than 2. Out of those 15 patients, 12 had positive HUTT (1 demonstrating POTS, 10 neurocardiogenic syncope, and 1 orthostatic hypotension). Among those with positive HUTT patients, C-reactive protein (CRP) was significantly higher (OR 1.01; p-value 0.041). Fatigue and dyspnea on exertion were the two most complaint symptoms. This study shows the incidence of autonomic dysfunction and POTS is 1.5% (12/793) and 0.1% POTS (1/793), respectively, in a primary care setting (among general post-COVID-19 patients). The most common symptoms for these patients were fatigue and dyspnea.

Abstract 12824: Quantitative Autonomic Testing ‘Early’ and ‘Late’ After Recovery From Acute COVID-19 Illness

Background: Cardiovascular (CV) autonomic dysfunction (AD) is a known potential complication following acute COVID-19 illness and may contribute to persistent symptoms, such as fatigue and postural intolerance. However, the quantitative assessment of CV AD after an acute COVID-19 infection is largely unexplored. Objective: Compare CV autonomic testing in patients presenting ‘early’ and ‘late’ after an acute COVID-19 illness. Methods: CV autonomic testing was undertaken in symptomatic patients presenting ‘early’ (0-10 months) and ‘late’ (11-20 months) after an acute COVID-19 illness. Findings were compared to autonomic testing results in healthy control subjects. Measures included i) heart rate (HR) and blood pressure (BP) responses during active standing (AS), ii) time to BP nadir and recovery during AS, iii) Valsalva ratio (VR), and iv) respiratory sinus arrhythmia (RSA). Unpaired student t-test was used to compare findings (mean ± SD) in post-COVID patients to controls. A p-value of &lt;0.05 was statistically significant. Results: Control (n=82, mean 33 years, 87% female), ‘early’ (n= 37, mean 38 years, 89% female) and ‘late’(n=18, mean 43 years, 72% female) groups were similar in age and sex. Compared to controls, VR was abnormally low in both the ‘early’ and ‘late’ groups (‘early’ 1.5 and ‘late’ 1.4 vs. controls 1.7, both p&lt;0.03) ( Table ). Other autonomic measures did not differ significantly from controls. However, compared to the ’early’ group, the ‘late’ group exhibited a trend toward more marked AD ( Figure ). Conclusion: Patients presenting ‘early’ and ‘late’ after an acute COVID-19 illness exhibit similar severity of autonomic disturbance. Potentially, the ‘late’ group experienced more severe COVID illness leading to delayed referral for troublesome AD symptoms. Nonetheless, our findings suggest that abnormal CV AD findings may persist without apparent improvement for lengthy periods (up to 20 months in this study) after acute COVID-19 infection.

An analysis of neuropathic pain, vasomotor manifestations, and sympathetic skin reactions in post-COVID-19 patients relative to healthy individuals.

This study aims to assess the incidence of neuropathic pain, vasomotor symptoms, and sympathetic skin responses (SSR) in patients who have recovered from COVID-19 infection and contrast these findings with healthy controls. The study encompassed 56 post-COVID-19 patients and 40 healthy controls (group 1: post-COVID-19 patients, and group 2: healthy controls). The presence of autonomic dysfunction symptoms (ADS) and orthostatic hypotension following COVID-19 infection was documented in group 1. Concurrently, fatigue and forgetfulness levels were appraised using the numerical rating scale, and the leeds assessment of neuropathic symptoms and signs pain scale was deployed to probe for the incidence of neuropathic pain among participants. SSR of all participants was conducted bilaterally from median and tibial nerves using an electroneuromyographic device. Among post-COVID-19 patients, neuropathic pain was observed in 17.9% of cases. There were no notable variations in the initiation and magnitude of bilateral median and tibial nerve SSR across the 2 groups. Significant discrepancies were observed in ADS scores between groups 1 and 2 (P = .001). Furthermore, a positive correlation was established between the latencies of the left median nerve SSR and ADS scores (R = 0.339, P = .014). The SSR patterns were congruous between healthy individuals and post-COVID-19 patients. However, a higher prevalence of autonomic dysfunction symptoms and correlations among SSR, autonomic dysfunction scores, fatigue, and forgetfulness levels were identified among post-COVID-19 patients.

O065 Autonomic Dysregulation During Sleep in Parkinsonian Spectrum Disorders

Abstract Introduction Symptoms associated with autonomic nervous system dysfunction are common to patients with neurodegenerative disorders (NDD) resulting from the accumulation of α-synuclein in the neurons and glial cells. In this study we investigate whether a novel biomarker, the autonomic activation index, can discriminate these potentially affected NDD groups. Methods After ethics review and with informed consent, patients with Lewy body disease (DLB/PDD: n=20%), Alzheimer’s disease dementia (AD: n=27), Parkinson disease (PD: n=14), mild cognitive impairment (MCI: n=37), isolated REM sleep behavior disorder (iRBD: n=15) and a control group (CG: n=58) were studied with the Sleep Profiler. AAI was based on a 6 BPM increase in pulse rate compared to the previous/subsequent 10th second. Between-group comparisons were assessed with Mann-Whitney U and Chi-square tests. Results The AAI values for the DLB/PDD patients were decreased compared to the AD, MCI (both p&amp;lt;0.03), and CG (p&amp;lt;0.0005), while the PD was less than AD and MCI (both &amp;lt; 0.05) and CG (p&amp;lt;0.002). The proportions of cases with abnormal AAI values (&amp;lt;10 events/h) was greatest in DLB/PDD patients, and greater than in ADem (p&amp;lt;0.02), MCI (p&amp;lt;0.02) and CG (p&amp;lt;0.0001), while AAI in PD and iRBD was greater than in CG (p&amp;lt;0.007 and 0.05 respectively). Conclusions These findings suggest that the AAI can be used to objectively confirm subjective complaints of autonomic dysfunction symptoms in patients with synucleinopathies. Longitudinal studies are needed determine factors that influence changes in the AAI.

Age Related Burden of Swallowing in Adult Patients Affected by Duchenne Muscular Dystrophy.

In Duchenne muscular dystrophy (DMD), dysphagia is a common but often overlooked symptom, which may affect quality of life (QoL). Its possible causes are progressive deterioration of muscle groups involved in swallowing function (oropharyngeal, inspiratory muscles) or impairment of autonomic function. In adult patients with DMD, we aimed to identify predictors of swallowing-related QoL and to compare swallowing-related QoL at different ages. Forty-eight patients aged 30.0±6.6 years were enrolled. Questionnaires were administered: the Swallowing Quality of Life questionnaire (SWAL-QOL) for swallowing-related QoL assessment, and the Compass 31 for autonomic symptoms assessment. The Brooke Upper Extremity Scale was used for upper limbs muscular function assessment. Respiratory and muscle function tests were performed, including spirometry, arterial blood gases, polysomnography, maximal inspiratory pressure (MIP), maximal expiratory pressure and sniff nasal inspiratory pressure. An abnormal composite SWAL-QOL score (≤86) was found in 33 patients. Autonomic symptoms were mild, while a severe impairment was shown by the Brooke Upper Extremity Scale. Spirometry and muscle strength tests demonstrated severe alterations, while diurnal and nocturnal blood gases were normal, due to effective use of noninvasive ventilation. Independent predictors of the composite SWAL-QOL score were age, MIP and Compass 31. A MIP < 22 had an accuracy of 92% in predicting altered swallowing-related QoL. The composite SWAL-QOL score was worse in subjects > 30 years old than in younger patients (64.5±19.2 vs 76.6±16.3, p < 0.02), due to worse scores in items pertinent to mental and social functioning; scores in domains pertinent to the physical function were similar in both groups. In adult DMD, swallowing-related QoL, which is altered in most patients, can be predicted by age, inspiratory muscles strength and autonomic dysfunction symptoms. While swallowing function is already altered in young patients, swallowing-related QoL can progressively worsen with advancing age due to psychological and social factors.

Non-Pharmacological Treatment of Autonomic Dysfunction in Parkinson's Disease and Other Synucleinopathies.

Symptoms of autonomic dysfunction are prevalent and can be very debilitating, reducing the quality of life in patients with Parkinson's disease (PD) and other synucleinopathies such as dementia with Lewy bodies and multiple system atrophy. Non-pharmacological therapies are key to effective management and are frequently used alone in patients with mild autonomic symptoms, or in combination with pharmacological therapies in patients with moderate and severe symptoms. This article focuses on non-pharmacological approaches. Our objective was to review the non-drug and non-surgical approaches to treating autonomic symptoms in patients with PD and other synucleinopathies, focusing on cardiovascular, gastrointestinal, and genitourinary autonomic dysfunction. Evidence supporting the effectiveness of non-pharmacological treatment for the management of neurogenic orthostatic hypotension, supine hypertension, constipation, and bladder and sexual dysfunction is available. High-quality prospective trials are scarce, yet some non-pharmacological interventions (e.g., physical counter maneuvers) can be evaluated relatively quickly on an individual basis and often seem effective. The emerging variety of clinical presentations advocates for a stepwise, individualized, and non-pharmacological approach for the management of autonomic symptoms. Often, the first step is to reduce or discontinue drugs that cause or aggravate autonomic symptoms followed by lifestyle measures. While non-pharmacological and non-surgical treatments are available and, in many cases, effective to improve symptoms of autonomic dysfunction in PD and other synucleinopathies, they are often overlooked. Large randomized trials testing and comparing non-pharmacological approaches are warranted.

PO-03-220 IMPACT OF COVID-19 INFECTION ON BASELINE AUTONOMIC SYMPTOMS IN PATIENTS WITH PRE-EXISTING POSTURAL TACHYCARDIA SYNDROME AND ORTHOSTATIC INTOLERANCE

Recently there have been several published case series of some survivors of COVID-19 infection left with chronic symptoms of autonomic dysfunction (AD) with features of orthostatic tachycardia syndrome (POTS). However, the impact of this viral illness on the underlying autonomic symptoms has not been studied in the patient population who have a pre-existing POTS diagnosis and are receiving treatment. So far, the impact of this viral illness on the underlying autonomic symptoms has not been studied in patients with a pre-existing POTS diagnosis and receiving treatment. Our study aims to report the impact of a COVID-19 infection on these patient populations, both during the acute phase of the disease and post-recovery. Our Institution Review Board (IRB) approval was obtained to access charts of the study subjects. Basic demographic and diagnosis details including the age, sex, prominent symptoms, duration of POTS diagnosis, medications, associated autonomic disease, and medication regimen were obtained from the retrospective chart review. Additional information regarding COVID-19 infection, course of illness, need for hospitalization, worsening of POTS symptoms, need for ED visits, improvement with the escalation of therapy, the type of persisting symptoms, and vaccination status were obtained from both chart review and details from the patients during the scheduled office visit. A total of 49 patients were studied. About 42 patients (82 %) had the alpha-variant infection before the vaccines were available. 28% (14 patients) of them had tested positive for infection more than once (i.e infection with alpha, delta, or omicron variant). About 38 (92.7%) of them reported having worsening of their baseline POTS symptoms during the active infection phase. About 28 patients (57 %) experienced worsening of their dysautonomia symptoms for at least 1-6 months post-infection. Nearly 30 patients (73.2%) required additional therapy for their symptom control and improvement. Of subjects with pre-existing POTS, most experienced a worsening of their baseline autonomic symptoms after suffering the COVID-19 infection which required additional pharmacotherapy for their symptom improvement. The majority of them had recovered within 6 months of therapy. From our observation, it is evident that the COVID-19 infection exacerbates the underlying symptoms in patients with established POTS disease.

COVID-19 Induced Postural Orthostatic Tachycardia Syndrome (POTS): A Review.

POTS (Postural Orthostatic Tachycardia Syndrome) is a multisystem disorder characterized by the abnormal autonomic response to an upright posture, causing orthostatic intolerance and excessive tachycardia without hypotension. Recent reports suggest that a significant percentage of COVID-19 survivors develop POTS within 6 to 8 months of infection. Prominent symptoms of POTS include fatigue, orthostatic intolerance, tachycardia, and cognitive impairment. The exact mechanisms of post-COVID-19 POTS are unclear. Still, different hypotheses have been given, including autoantibody production against autonomic nerve fibers, direct toxic effects of SARS-CoV-2, or sympathetic nervous system stimulation secondary to infection. Physicians should have a high suspicion of POTS in COVID-19 survival when presented with symptoms of autonomic dysfunction and should conduct diagnostic tests like the Tilt table and others to confirm it. The management of COVID-19-related POTS requires a comprehensive approach. Most patients respond to initial non-pharmacological options, but when the symptoms become more severe and they do not respond to the non-pharmacological approach, pharmacological options are considered. We have limited understanding and knowledge of post-COVID-19 POTS, and further research is warranted to improve our understanding and formulate a better management plan.

Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: Video Documentation of a German Family.

Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: Video Documentation of a German Family.

Impact of dysautonomic symptom burden on the quality of life in Neuromyelitis optica spectrum disorder patients

BackgroundThis study aimed to investigate the clinical risk factors of dysautonomic symptom burden in neuromyelitis optica spectrum disorder (NMOSD) and its impact on patients’ quality of life.MethodsA total of 63 NMOSD patients and healthy controls were enrolled. All participants completed the Composite Autonomic Symptom Score 31 (COMPASS-31) to screen for symptoms of autonomic dysfunction. A comprehensive clinical evaluation was performed on NMOSD patients, such as disease characteristics and composite evaluations of life status, including quality of life, anxiety/depression, sleep, and fatigue. Correlated factors of dysautonomic symptoms and quality of life were analyzed.ResultsThe score of COMPASS-31 in the NMOSD group was 17.2 ± 10.3, significantly higher than that in healthy controls (P = 0.002). In NMOSD patients, the higher COMPASS-31 score was correlated with more attacks (r = 0.49, P < 0.001), longer disease duration (r = 0.52, P < 0.001), severer disability (r = 0.50, P < 0.001), more thoracic cord lesions (r = 0.29, P = 0.02), more total spinal cord lesions (r = 0.35, P = 0.005), severer anxiety (r = 0.55, P < 0.001), severer depression (r = 0.48, P < 0.001), severer sleep disturbances (r = 0.59, P < 0.001), and severer fatigue (r = 0.56, P < 0.001). The disability, total spinal cord lesions, and fatigue were revealed to be independently associated factors. Further analysis revealed that the COMPASS-31 score was independently correlated with scores of all the domains of patients’ quality of life scale (P < 0.05).ConclusionsDysautonomic symptom burden is correlated with decreased quality of life and certain clinical characteristics such as disability, the burden of spinal cord lesions, and fatigue in NMOSD patients. Investigation and proper management of autonomic dysfunction may help to improve the quality of life in patients with NMOSD.

Зв'язок факторів дезадаптації з поширеністю симптомів та умов виникнення вегетативної дисфункції у спортсменів

The purpose of the study was to establish the connection between symptoms of autonomic dysfunction and factors that can increase the likelihood of its development. Materials and methods. A total of 150 athletes were examined. The number of women was 65 (43.3%), the average age of the examined was 22.8 2.9 years. During the collection of anamnesis, the athletes were separately asked to answer about the presence of such symptoms as the insufficient result of the performance of the coaching task, insufficient motivation, dissatisfaction with the construction of the training session, feeling of lack of progress, unpreparedness for the competition, feeling of overfatigue after training, disturbance of the emotional sphere, difficulty in performing other types of activities in non-exercise time, a feeling of muscle weakness, muscle pain, decreased tolerance to temperature effects, periodic dizziness when standing up, after performing exercises, periodic headaches and satisfaction with sleep. The design, purpose, tasks and methods of the conducted research were discussed at the meeting of the commission on bioethics of the Educational and Scientific Medical Institute of Sumy State University. Results and discussion. A significant difference in the frequency of detected symptoms between the studied groups was established and it was found that in almost all cases the criterion of statistical significance p was less than 0.001. This applied to all general, neurological and cardiac symptoms directly related to autonomic dysfunction. Insignificant differences were established only when comparing the frequency of disorders of the emotional sphere (p=0.176) and the motivational component (p=0.273). It was also shown that there is a certain connection between the specifics of training activities and other aspects of athletes' lives with the appearance of symptoms and conditions for the occurrence of autonomic dysfunction. These factors may be of limited importance, for example, the frequency of headaches increases exclusively in women, and in athletes aged 20-24 years problems with the motivational component prevail. The last symptom, together with disturbances in the emotional sphere, is also characteristic of those who have suffered significant injury during the last month. Conclusion. Resting autonomic dysfunction is largely unaffected by overexertion, although this may be the result of methodological issues that warrant further investigation. Heart rate acceleration appears to decrease in response to overexercise and therefore may be a potential indicator of exercise-induced fatigue

Seasonal variations of nonmotor symptoms in patients with Parkinson's disease in Southeast China.

Studies suggest seasonal fluctuations of symptoms in Parkinson's disease (PD) patients in Western countries. However, the association between seasonal change and variation in nonmotor symptoms (NMS) in Chinese PD patients is unclear. Here, we studied whether there is a change rule with annual cycle with severity of NMS for patients with PD in Southeast China. We studied 1005 PD patients between April 2008 and October 2020. Patients were classified into four seasons according to the 24 Chinese solar terms, based on assessment date. We compared comprehensive NMS scales and polysomnography parameters among groups and conducted further analysis of disease severity. Among the 1005 patients studied, the mean age was 64.2 ± 9.7 years and 569 (56.6%) of them were men. Relative to the summer group, patients assessed during winter had higher Scales for Outcomes in Parkinson's disease-Autonomic Dysfunction (SCOPA-AUT) scores ( P = 0.045). The sleep efficiency factor scores of Pittsburgh Sleep Quality Index in patients were higher during spring than summer ( P = 0.009). Among patients who completed polysomnography during the same period ( n = 135), compared with summer follow-ups, we observed a higher percentage of NREMS1 in winter and spring follow-ups ( P = 0.042, P = 0.011), a higher NREMS1 time in spring follow-ups ( P = 0.0024), a lower NREMS2 time in winter follow-ups ( P = 0.007), and a higher percentage of phasic RSWA in autumn and winter follow-ups ( P = 0.026 and P = 0.020, respectively). In a subset of patients with PD and REM sleep behavior disorder (RBD; n = 182), those visited during winter had higher scores for RBD questionnaire- Hong Kong and its factor 1 (dream-related sub-score) than those visited during summer ( P = 0.034, P = 0.020). We observed similar findings for SCOPA-AUT and sleep efficiency factor scores in early stage patients in subgroup analysis. PD patients assessed for follow-up during summer showed less severe symptoms of autonomic dysfunction and RBD symptoms than those assessed in winter, and less sleep disturbance than those in spring and winter, suggesting that seasonal change and NMS fluctuation are related, especially in patients with early stage PD.

GUIDED BREATHING EXERCISE MODULATES BLOOD PRESSURE FOR PEOPLE WITH SPINAL CORD INJURY

https://youtu.be/iK9idhJBdoY BACKGROUND People with Spinal Cord Injury (SCI) often suffer from autonomic dysfunction, including orthostatic intolerance. These effects can be similar to those that astronauts experience while exposed to microgravity. To improve post-flight orthostatic intolerance, and other symptoms of autonomic dysfunction, scientists at NASA designed a biofeedback protocol, Autogenic Feedback Training Exercise (AFTE). AFTE combines specific autogenic exercises (e.g., self-suggestion of warmth in the hands) with biofeedback of multiple physiological responses (i.e., blood pressure [BP], heart rate, body temperature, breathing rate). We modified this protocol by adding guided breathing exercises and immersive virtual reality (VR) and tested it among people with and without SCI. The study aims to determine if AFTE is viable for improving autonomic dysfunction in individuals with SCI. We hypothesize that participants with SCI will improve symptoms of orthostatic hypotension and be able to modulate BP toward normotensive values after eight sessions of AFTE. METHODS/DESIGN A convenience sample of five (n=5) participants with chronic cervical SCI: two women (body weight 90+/−13Kg, height 164+/−2Cm, age 48+/−18), three men (body weight 96+/−37, height 180+/−5Kg, age 40+/−28) and four (n=4) participants without SCI: two women (body weight 57+/−9 Kg, height 164+/ 9 Cm, age 22+/−1) and two men (body weight 78 Kg +/−18, height 182 cm +/−5, age 27+/−2) participated in the study. Training consisted of eight 3-minute cycles of alternating relaxing then stimulating breathing, interoception (i.e., noticing inner body sensation), and VR. The relaxing breathing to lower BP consisted of making the “mmm” sound with three long nasal exhales to lower blood pressure. The stimulating breathing to raise BP consisted of three series of ten quick nasal exhales. After each of the eight cycles, participants were given feedback on whether they met their goal of increasing of decreasing MAP 5 mmHg during stimulation or relaxation cycles respectively. Training was performed twice a week for five weeks. RESULTS Participants successfully modulated their BP during the breathing exercise portion of the training. Participants reported they were able to use the technique at home after training was completed. CONCLUSIONS Guided breathing exercises could provide a readily available method of BP modification without side effects, potentially enabling more exercise compliance for people with SCI.

Синдром вегетативной дисфункции пациентов, перенесших COVID-19, на 3 этапе медицинской реабилитации

At the moment, post-COVID-19 syndrome is a poorly studied aspect of the past pandemic, the clinical signs of which largely coincide with the symptoms of autonomic dysfunction. When examining patients who underwent COVID-19, symptoms of the autonomic nervous system disorder are often revealed. The use of vegetative status assessment methods will allow detecting, confirming and adjusting a rehabilitation program for such patients. The purpose — to analyze the results of the vegetative status assessment in patients who underwent COVID-19, admitted to post-COVID rehabilitation. Material and methods. We examined 100 patients with a confirmed history of COVID-19 infection who were admitted for post- COVID-19 rehabilitation as part of stage 3 of medical rehabilitation. Results. Autonomic dysfunction was observed in two thirds of patients and corresponded to the complaints without correlation with clinical manifestations. The most common symptoms were asthenia and shortness of breath during exercise. After a comprehensive rehabilitation, positive dynamics was observed; however, residual phenomena requiring further correction persisted in patients with autonomic dysfunction. Conclusions. The data obtained confirmed that patients who underwent COVID-19 have chronic symptoms of post-COVID-19 syndrome associated with the autonomic system disorder.