Stereotypy: Literature review

Stereotypies have been defined in a variety of ways, but are generally accepted to be involuntary movements that occur repeatedly in the same patterned. These movements are seen in a variety of neurological and psychological conditions but are perhaps less well recognised than other types of movement disorder. Various aspects of stereotypies including pathophysiology, differential diagnosis and treatment have been reviewed

24 hour-ambulatory blood pressure and heart rate profiles in diagnosing orthostatic hypotension in Parkinson’s disease and Multiple System Atrophy

Background:24-hour ambulatory blood pressure and heart rate monitoring (24hr-ABPM) can provide vital information on circadian blood pressure (BP) profiles, which are commonly abnormal in Parkinson’s disease with and without autonomic failure (PD+AF and PD) and multiple system atrophy (MSA). 24hr-ABPM has not been directly compared between these disorders regarding cardiovascular autonomic function. We aim to determine the usefulness of 24hr-ABPM with diary compared to Head-up Tilting (HUT) in diagnosing orthostatic hypotension (OH) in these patients. Methods: 74 patients (23 MSA,18 PD+AF,33 PD) underwent cardiovascular autonomic screening followed by 24hr-ABPM with diary. Standing tests were included during 24hr-ABPM. The sensitivity and specificity in detecting OH from the 24hr-ABPM standing test were compared with HUT. Results: There was no difference in OH during HUT between MSA and PD+AF (p>0.05). MSA and PD+AF had a higher proportion of abnormal BP circadian rhythms compared to PD (p0.05). Patients were divided into groups with (OH+) and without OH (OH-) on HUT. Using the standing test during 24hr-ABPM, a SBP fall of >20 mmHg showed a sensitivity and specificity of 82% and 100 % (AUC 0.91, 95% CI 0.84-0.98) in differentiating OH+ from OH-, respectively. Conclusions:PD+AF and MSA patients had similar circadian BP patterns suggesting that autonomic dysfunction influences abnormal BP circadian patterns similarly in these disorders. The higher sensitivity and specificity in detecting OH using a SBP fall of >20 mmHg compared to a DBP fall of >10 mmHg during standing test supports its usefulness to assess autonomic function in MSA and PD

Non-dipping nocturnal blood pressure and psychosis parameters in Parkinson disease

Conclusion: These results suggest that, among PD patients, a non-dipping circadian rhythm is associated with more severe symptoms of psychosis than is a dipping circadian rhythm. This association warrants further investigation

Lower urinary tract dysfunction in Parkinsonian syndromes

Purpose of review: The aim of this review is to outline the clinical presentation, pathophysiology and evaluation of lower urinary tract (LUT) dysfunction in Parkinson’s disease and other parkinsonian syndromes including multiple system atrophy, dementia with Lewy bodies, progressive supranuclear palsy and corticobasal degeneration. // Recent findings: LUT dysfunction commonly occurs in neurological disorders, including patients with parkinsonian syndromes. The pattern of LUT dysfunction and its severity are variable, depending upon the site of lesion within the neural pathways. Parkinsonian syndromes are broadly divided into Parkinson’s disease (PD) and a typical parkinsonian syndromes such as multiple system atrophy (MSA), dementia with Lewy bodies (DLB), progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). Different parkinsonian syndromes have distinct clinical features (e.g. dysautonomia, early dementia, supranuclear gaze palsy, higher cortical signs), and the pattern of LUT dysfunction and its severity can differ. // Conclusions: LUT dysfunction is a common feature in patients with parkinsonian syndromes. Recognising the pattern of LUT dysfunction during the assessment of these patients can help management and possibly facilitate an earlier diagnosis

Sudomotor and cardiovascular dysfunction in patients with early untreated Parkinson's disease.

BACKGROUND: According to Braak staging of Parkinson's disease (PD), detection of autonomic dysfunction would help with early diagnosis of PD. OBJECTIVE: To determine whether the autonomic nervous system is involved in the early stage of PD, we evaluated cardiovascular and sudomotor function in early untreated PD patients. METHODS: Orthostatic blood pressure regulation, heart rate variability, skin vasomotor function, and palmar sympathetic sweat responses were examined in 50 early untreated PD patients and 20 healthy control subjects. RESULTS: The mean decrease in systolic blood pressure during head-up tilt in PD patients was mildly but significantly larger than in controls (p = 0.0001). There were no differences between the 2 groups in heart rate variability, with analysis of low frequency (LF; mediated by baroreflex feedback), and high frequency (HF; mainly reflecting parasympathetic vagal) modulation. However, LF/HF, an index of sympatho-parasympathetic balance, was lower in the PD group than in controls (p = 0.02). Amplitudes of palmar sweat responses to deep inspiration (p = 0.004), mental arithmetic (p = 0.01), and exercise (p = 0.01) in PD patients were lower than in controls, with negative correlations with motor severity. Amplitudes of palmar skin vasomotor reflexes in PD patients did not differ from controls. CONCLUSIONS: Our study indicates impairment of sympathetic cardiovascular and sudomotor function with orthostatic dysregulation of blood pressure control, reduced LF/HF and reduction in palm sweat responses even in early untreated PD patients

Multi-modal Biomarkers Quantify Recovery in Autoimmune Autonomic Ganglionopathy

Objective: To evaluate patients with ganglionic acetylcholine receptor antibody (gAChR‐Ab) positive autoimmune autonomic ganglionopathy using a multi‐modal testing protocol to characterise their full clinical phenotype and explore biomarkers to quantify immunotherapy response. Methods: Cohort study of thirteen individuals (seven female; 21–69 years) with autonomic failure and gAChR‐Ab>100pM identified between 2005–2019. From 2018, all patients were longitudinally assessed with cardiovascular, pupillary, urinary, sudomotor, lacrimal and salivary testing, and COMPASS‐31 autonomic symptom questionnaires. The orthostatic intolerance ratio was calculated by dividing change in systolic blood pressure over time tolerated on head‐up tilt. Eleven patients received immunotherapy. Results: At first assessment, all 13 patients had cardiovascular and pupillary impairments, 7/8 had post‐ganglionic sudomotor dysfunction, 9/11 had urinary retention and xeropthalmia, and 6/8 had xerostomia. After immunotherapy, there were significant improvements in orthostatic intolerance ratio (33.3[17.8–61.3] to 5.2[1.4–8.2], P = .007), heart rate response to deep breathing (1.5[0.0–3.3] to 4.5[3.0–6.3], P = .02), pupillary constriction to light (12.0[5.5–18.0] to 19.0[10.6–23.8]%, P = .02), saliva production (0.01[0.01–0.05] to 0.08[0.02–0.20]g/min, P = .03) and COMPASS‐31 scores (52 to 17, P = .03). Orthostatic intolerance ratio correlated with autonomic symptoms at baseline (r = 0.841, P = .01) and following immunotherapy (r = 0.889, P = .02). Immunofluorescence analyses of skin samples from a patient 32 years after disease onset showed loss of nerve fibres supplying the dermal autonomic adnexa and epidermis, with clear improvements following immunotherapy. Interpretation: Patients with autoimmune autonomic ganglionopathy demonstrated objective evidence of widespread sympathetic and parasympathetic autonomic failure, with significant improvements after immunotherapy. Quantitative autonomic biomarkers should be used to define initial deficits, guide therapeutic decisions, and document treatment response

Autonomic dysfunction after moderate-to-severe traumatic brain injury: symptom spectrum and clinical testing outcomes

Background: Survivors of moderate-to-severe traumatic brain injury (msTBI) frequently experience troublesome unexplained somatic symptoms. Autonomic dysfunction may contribute to these symptoms. However, there is no previous study of clinical subjective and objective autonomic dysfunction in msTBI. Methods: We present results from two groups of patients with msTBI. The first, a case–control comparative study, comprises prospectively recruited msTBI outpatients, in whom we measured burden of autonomic symptoms using the Composite Autonomic Symptom Score (COMPASS31) questionnaire. The second, a descriptive case series, comprises retrospectively identified msTBI outpatients who had formal clinical autonomic function testing at a national referral autonomics unit. Results: Group 1 comprises 39 patients with msTBI (10F:20M, median age 40 years, range 19–76), median time from injury 19 months (range 6–299) and 44 controls (22F:22M, median age 45, range 25–71). Patients had significantly higher mean weighted total COMPASS-31 score than controls (p<0.001), and higher gastrointestinal, orthostatic and secretomotor subscores (corrected p<0.05). Total COMPASS31 score inversely correlated with subjective rating of general health (p<0.001, rs=−0.84). Group 2 comprises 18 patients with msTBI (7F:11M, median age 44 years, range 21–64), median time from injury 57.5 months (range 2–416). Clinical autonomic function testing revealed a broad spectrum of autonomic dysfunction in 13/18 patients. Conclusions: There is clinically relevant autonomic dysfunction after msTBI, even at the chronic stage. We advocate for routine enquiry about potential autonomic symptoms, and demonstrate the utility of formal autonomic testing in providing diagnoses. Larger prospective studies are warranted, which should explore the causes and clinical correlates of post-TBI autonomic dysfunction

Autonomic Dysfunction in Genetic Forms of Synucleinopathies

The discovery of genetic links between alpha‐synuclein and PD has opened unprecedented opportunities for research into a new group of diseases, now collectively known as synucleinopathies. Autonomic dysfunction, including cardiac sympathetic denervation, has been reported in familial forms of synucleinopathies that have Lewy bodies at the core of their pathogenesis. SNCA mutations and multiplications, LRRK2 disease with Lewy bodies as well as other common, sporadic forms of idiopathic PD, MSA, pure autonomic failure, and dementia with Lewy bodies have all been associated with dysautonomia. By contrast, in familial cases of parkinsonism without Lewy bodies, such as in PARK2, the autonomic profile remains normal throughout the course of the disease. The degeneration of the central and peripheral autonomic systems in genetic as well as sporadic forms of neurodegenerative synucleinopathies correlates with the accumulation of alpha‐synuclein immunoreactive‐containing inclusions. Given that dysautonomia has a significant impact on the quality of life of sufferers and autonomic symptoms are generally treatable, a prompt diagnostic testing and treatment should be provided. Moreover, new evidence suggests that autonomic dysfunction can be used as an outcome prediction factor in some forms of synucleinopathies or premotor diagnostic markers that could be used in the future to define further research avenues. In this review, we describe the autonomic dysfunction of genetic synucleinopathies in comparison to the dysautonomia of sporadic forms of alpha‐synuclein accumulation and provide the reader with an up‐to‐date overview of the current understanding in this fast‐growing field

Evaluating a Dental Public-Health Game across Two Learning Contexts

Serious games have been shown to be effective learning tools in various disciplines, including dental education. Serious-game learning environments allow learners to improve knowledge and skills. GRAPHIC (Games Research Applied to Public Health with Innovative Collaboration), a serious game for dental public health, was designed to simulate a town, enabling students to apply theoretical knowledge to a specific population by selecting health promotion initiatives to improve the oral health of the town population. This study employed a literature-based evaluation framework and a sequential explanatory mixed-methods research design to evaluate the use of GRAPHIC among final-year dental undergraduates across two learning contexts: King&rsquo;s College London in the United Kingdom and Mahidol University in Thailand. Two hundred and sixty-one students completed all designated tasks, and twelve participated in semi-structured interviews. The findings demonstrated knowledge improvement after game completion based on pre- and post-knowledge assessments, and the students&rsquo; perceptions of the game as an interactive and motivational learning experience. The evaluation identified five serious-game dimensions and clear alignment between these dimensions, demonstrating the impact of serious games in dental public health and, more widely, in healthcare education