Movement disorders in systemic autoimmune diseases: Clinical spectrum, ancillary investigations, pathophysiological considerations.

With the advances in neuroimmunology especially due to the discovery of new neuronal antibodies, the recognition of treatable antibody-related movement disorders has recently received much attention. In contrast, the identification and characterisation of movement disorders associated with systemic autoimmune diseases remains a substantially unexplored area. Beyond the classic few associations such as chorea and antiphospholipid syndrome, or ataxia and coeliac disease, movement disorders have been reported in association with several systemic autoimmune diseases, however a clear image of clinical phenotypes, investigations, and treatment outcomes in these conditions has never been drawn. In this review, we analyse data from approximately 300 cases and summarise the epidemiological, clinical and diagnostic features of movement disorders associated with systemic autoimmune diseases, and the available knowledge about treatment and outcomes. We highlight that movement disorders in systemic autoimmune conditions are frequently the only or among a few presenting manifestations and are mostly treatable disorders responding to immunotherapy or dietary modifications. We point out the pertinent combination of clinical features and investigations which can suggest the underlying autoimmune nature of these movement disorders, and thus address the most appropriate treatment.

A simulation study assessing the accuracy and reliability of orchidometer estimation of testicular volume.

CONTEXT: Measuring testicular volume (TV) by orchidometer is the standard method of male pubertal staging. A paucity of evidence exists as to its inter- and intra-observer reliability and the impact of clinicians' gender, training and experience on accuracy. OBJECTIVE: Prosthetic testicular models were engineered to investigate accuracy and reliability of TV estimation. DESIGN: Simulation study. SETTING: Conducted over three-day 2015 British Society for Paediatric Endocrinology and Diabetes (BSPED) meeting. PARTICIPANTS: Two hundred fifteen meeting delegates (161F, 54M): 50% consultants, 30% trainees, 9% clinical nurse specialists, 11% other professionals. INTERVENTION: Three child-sized mannequins displayed latex scrotum containing prosthetic testicles of 3, 4, 5, 10 and 20 mL. Demographic data, paediatric endocrinology experience, TV examination training, examination technique and TV estimations were collected. Delegates were asked to repeat their measurements later during the meeting. Scrotum order was changed daily. MAIN OUTCOME MEASURES: Accuracy by variance from the simulated TV. Inter- and intra-observer variability. RESULTS: One thousand two hundred eighty four individual estimations were obtained. Eighty-five participants repeated measurements. Delegates measured TV accurately on 33.4% (±2.6) of occasions: overestimations 37% (±2.3), underestimations 28% (±1.8) (Fleiss' Kappa score 0.04). The accuracy of assessing a 4 mL testis was 36%-39%. Observers underestimated the volume when paired with a 3 mL testis and overestimated when paired with a 5 mL testis demonstrating a tendency impose biological symmetry. Intra-observer reliability was lacking; individuals giving different estimations for the same size testicle on 61% (±4.2) of occasions, 20% (±3.5) of estimations were more than 1 size outside the previous measurement. On only 39% (±4.2) of occasions did individuals agree with their previous estimation (irrespective of whether or not it was initially accurate). Training did not impact on results but experience did improve accuracy. CONCLUSIONS: Overall TV estimation accuracy was poor. Considerable variation exists between and within subjects. Seniority slightly improved measurement estimation.

Refining the Deep Brain Stimulation Target within the Limbic Globus Pallidus Internus for Tourette Syndrome.

BACKGROUND: Deep brain stimulation (DBS) in patients with severe, refractory Tourette syndrome (TS) has demonstrated promising but variable results thus far. The thalamus and anteromedial globus pallidus internus (amGPi) have been the most commonly stimulated sites within the cortico-striato thalamic circuit, but an optimal target is yet to be elucidated. OBJECTIVES: This study of 15 patients with long-term amGPi DBS for severe TS investigated whether a specific anatomical site within the amGPi correlated with optimal clinical outcome for the measures of tics, obsessive compulsive behaviour (OCB), and mood. METHODS: Validated clinical assessments were used to measure tics, OCB, quality of life, anxiety, and depression before DBS and at the latest follow-up (17-82 months). Electric field simulations were created for each patient using information on electrode location and individual stimulation parameters. A subsequent regression analysis correlated these patient-specific simulations to percentage changes in outcome measures in order to identify any significant voxels related to clinical improvement. RESULTS: A region within the ventral limbic GPi, specifically on the medial medullary lamina in the pallidum at the level of the AC-PC, was significantly associated with improved tics but not mood or OCB outcome. CONCLUSIONS: This study adds further support to the application of DBS in a tic-related network, though factors such as patient sample size and clinical heterogeneity remain as limitations and replication is required.

The Use of Deep Brain Stimulation in Tourette Syndrome.

Tourette syndrome (TS) is a childhood neurobehavioural disorder, characterised by the presence of motor and vocal tics, typically starting in childhood but persisting in around 20% of patients into adulthood. In those patients who do not respond to pharmacological or behavioural therapy, deep brain stimulation (DBS) may be a suitable option for potential symptom improvement. This manuscript attempts to summarise the outcomes of DBS at different targets, explore the possible mechanisms of action of DBS in TS, as well as the potential of adaptive DBS. There will also be a focus on the future challenges faced in designing optimized trials.