Faculty Bibliography

A patient diagnosed with developmental delay, intellectual disability, and autistic and obsessive-compulsive symptoms was found to have a posterior fossa arachnoid cyst (PFAC) compressing the cerebellum. The patient was referred to our Ataxia Unit for consideration of surgical drainage of the cyst to improve his clinical constellation. This scenario led to an in-depth analysis including a literature review, functional resting-state MRI analysis of our patient compared to a group of controls, and genetic testing. While it is reasonable to consider that there may be a causal relationship between PFAC and neurodevelopmental or psychiatric symptoms in some patients, there is also a nontrivial prevalence of PFAC in the asymptomatic population and a significant possibility that many PFAC are incidental findings in the context of primary cognitive or psychiatric symptoms. Our functional MRI analysis is the first to examine brain function, and to report cerebellar dysfunction, in a patient presenting with cognitive/psychiatric symptoms found to have a structural abnormality compressing the cerebellum. These neuroimaging findings are inherently limited due to their correlational nature but provide unprecedented evidence suggesting that cerebellar compression may be associated with cerebellar dysfunction. Exome gene sequencing revealed additional etiological possibilities, highlighting the complexity of this field of cerebellar clinical and scientific practice. Our findings and discussion may guide future investigations addressing an important knowledge gap-namely, is there a link between cerebellar compression (including arachnoid cysts and possibly other forms of cerebellar compression such as Chiari malformation), cerebellar dysfunction (including fMRI abnormalities reported here), and neuropsychiatric symptoms?

This paper describes ten core features of a neuropsychological assessment with the aim of helping neurologists understand the unique contribution the evaluation can make within the wider context of diagnostic methods in epilepsy. The possibilities, limitations and cautions associated with the investigation are discussed under the headings below: 1. A neuropsychological assessment is a collaborative investigation. 2. Assessment prior to treatment allows for the accurate assessment of treatment effects. 3. The nature of an underlying lesion and its neurodevelopmental context play an important role in shaping the associated neuropsychological deficit. 4. Cognitive and behavioural impairments result from the essential comorbidities of epilepsy which can be considered as much a disorder of cognition and behaviour as of seizures. 5. Patient's subjective complaints can help us understand objective cognitive impairments and their underlying neuroanatomy, resulting in improved patient care. At other times, patient complaints reflect other factors and require careful interpretation. 6. The results from a neuropsychological assessment can be used to maximise the educational and occupational potentials of people with epilepsy. 7. Not all patients are able to engage with a neuropsychological assessment. 8. There are limitations in assessments conducted in a second language with tests that have been standardized on different populations to that of the patient. 9. Adequate intervals between assessments maximise sensitivity to meaningful change. 10. Patients should be fully informed about the purpose of the assessment and have realistic expectations of the outcome prior to referral.

A group of European experts reappraised the guidelines on the therapeutic efficacy of repetitive transcranial magnetic stimulation (rTMS) previously published in 2014 [Lefaucheur et al., Clin Neurophysiol 2014;125:2150-206]. These updated recommendations take into account all rTMS publications, including data prior to 2014, as well as currently reviewed literature until the end of 2018. Level A evidence (definite efficacy) was reached for: high-frequency (HF) rTMS of the primary motor cortex (M1) contralateral to the painful side for neuropathic pain; HF-rTMS of the left dorsolateral prefrontal cortex (DLPFC) using a figure-of-8 or a H1-coil for depression; low-frequency (LF) rTMS of contralesional M1 for hand motor recovery in the post-acute stage of stroke. Level B evidence (probable efficacy) was reached for: HF-rTMS of the left M1 or DLPFC for improving quality of life or pain, respectively, in fibromyalgia; HF-rTMS of bilateral M1 regions or the left DLPFC for improving motor impairment or depression, respectively, in Parkinson's disease; HF-rTMS of ipsilesional M1 for promoting motor recovery at the post-acute stage of stroke; intermittent theta burst stimulation targeted to the leg motor cortex for lower limb spasticity in multiple sclerosis; HF-rTMS of the right DLPFC in posttraumatic stress disorder; LF-rTMS of the right inferior frontal gyrus in chronic post-stroke non-fluent aphasia; LF-rTMS of the right DLPFC in depression; and bihemispheric stimulation of the DLPFC combining right-sided LF-rTMS (or continuous theta burst stimulation) and left-sided HF-rTMS (or intermittent theta burst stimulation) in depression. Level A/B evidence is not reached concerning efficacy of rTMS in any other condition. The current recommendations are based on the differences reached in therapeutic efficacy of real vs. sham rTMS protocols, replicated in a sufficient number of independent studies. This does not mean that the benefit produced by rTMS inevitably reaches a level of clinical relevance.

BACKGROUND/UNASSIGNED:The relationship between early trauma, hyperarousal and aberrant salience has been investigated exclusively in specific clinical samples, such as post-traumatic stress disorder (PTSD) and psychotic patients, and the results suggest that both dimensions are trauma-induced events, which may lead to the later onset, or increase the vulnerability to psychiatric disorders. The aim of the present research was to evaluate the possible relationships among early childhood trauma subtypes and the dimensions of hyperarousal and aberrant salience in an adult sample of psychiatric patients. MATERIALS AND METHODS/UNASSIGNED:One-hundred psychiatric adult outpatients were assessed by Early Trauma Inventory Self Report-Short Form (ETISR-SF), Aberrant Salience Inventory (ASI) and Hyperarousal Scale (H-Scale). A linear regression analysis was performed in order to investigate which early traumatic events were a predictor of the aberrant salience and the hyperarousal. RESULTS/UNASSIGNED: = .031), whereas other ETISR-SF variables did not give a significant additional contribution to the prediction of aberrant salience and the hyperarousal dimension. CONCLUSIONS/UNASSIGNED:These findings support the role of emotional abuse as predictor of hyperarousal, a basic dimension associated with general vulnerability to mental illness. The awareness of the psychiatric consequences of early childhood trauma leads us to consider the need for better identification of children at risk, to develop effective interventions for the protection of minors from violent and/or inappropriate behaviors and to promote the development of protective resilience factors against re-victimization.

Parkinson's disease (PD) results in a complex deterioration of motor behavior. Effective pharmacological or surgical treatments addressing the whole spectrum of both motor and cognitive symptoms are lacking. The cumulative functional impairment may have devastating socio-economic consequences on both patients and caregivers. Comprehensive models of care based on multidisciplinary approaches may succeed in better addressing the overall complexity of PD. Neurorehabilitation is a highly promising non-pharmacological intervention for managing PD. The scientific rationale beyond rehabilitation and its practical applicability remain to be established. In the present perspective, we aim to discuss the current evidence supporting integrated motor-cognitive and aerobic rehabilitation approaches for patients with PD while suggesting a practical framework to optimize this intervention in the next future.

The Second Safety in College Football Summit resulted in interassociation consensus recommendations for three paramount safety issues in collegiate athletics: (1) independent medical care for collegiate athletes; (2) diagnosis and management of sport-related concussion; and (3) year-round football practice contact for collegiate athletes. This document, the fourth arising from the 2016 event, addresses the prevention of catastrophic injury, including traumatic and non-traumatic death, in collegiate athletes. The final recommendations in this document are the result of presentations and discussions on key items that occurred at the summit. After those presentations and discussions, endorsing organisation representatives agreed on 18 foundational statements that became the basis for this consensus paper that has been subsequently reviewed by relevant stakeholders and endorsing organisations. This is the final endorsed document for preventing catastrophic injury and death in collegiate athletes. This document is divided into the following components. (1) Background-this section provides an overview of catastrophic injury and death in collegiate athletes. (2) Interassociation recommendations: preventing catastrophic injury and death in collegiate athletes-this section provides the final recommendations of the medical organisations for preventing catastrophic injuries in collegiate athletes. (3) Interassociation recommendations: checklist-this section provides a checklist for each member school. The checklist statements stem from foundational statements voted on by representatives of medical organisations during the summit, and they serve as the primary vehicle for each member school to implement the prevention recommendations. (4) References-this section provides the relevant references for this document. (5) Appendices-this section lists the foundational statements, agenda, summit attendees and medical organisations that endorsed this document.

Old age is associated with variability in gait motor output, particularly in females, and is linked to fall risk. However, little is known about how older age and sex affect variability in the outputs of individual joints, and how these variabilities contribute to the collective gait output. Healthy adults aged 18-99 years (N = 102, 57 females) completed six trials of straight walking at self-selected speed. Stride time variability (coefficient of variation) and variabilities of lower limb tridimensional joint angles (standard deviations: SD) were calculated. Age * Sex (A * S) mixed models were conducted on all measures and year-by-year rates of change were subsequently estimated. Correlations and stepwise linear regression analyses were computed between joint angular variabilities and stride time variability. Each year of age was associated with 0.022% higher stride time variability (A: p = .002), 0.07° lower variability in peak ankle dorsiflexion (A: p = .004), 0.002-0.098° higher variability in mean ankle inversion/eversion, mean pelvic obliquity, and pelvic rotation range of motion (A: p < .05), and 0.024° higher variability in knee flexion/extension range of motion in males (A * S: p = .003). Higher variability in mean ankle and hip flexion/extension and in mean ankle inversion/eversion correlated with (ρ = 0.211-0.336; ps < 0.05) and independently predicted higher stride time variability (ps < 0.05), together explaining 21.9% of variance. Results suggest that higher stride time variability with older age may be produced by a shift from sagittal plane variability to frontal plane variability at the ankle.