No abstract

Our objective was to assess the validity of the Edinburgh Cognitive and Behaviour ALS Screen (ECAS), a multi-domain screen designed to detect cognitive deficits in patients with motor disorders. Forty ALS patients (without pre-diagnosed dementia) and 40, age-, gender- and education-matched healthy controls were recruited. All participants underwent extensive neuropsychological assessment and the ECAS. Performance at neuropsychological assessment across five domains (fluency, executive function, language, memory and visuospatial function) was compared to the ECAS ALS-Specific (fluency, executive functions and social cognition, language), ALS Non-specific (memory, visuospatial functions), and Total scores. Data from the healthy controls produced population-based abnormality cut-offs: composite score performance ≤ 2 SD in any domain classified impairment at neuropsychological assessment. Thirty-three percent of patients were impaired, most commonly in a single domain (executive or language dysfunction). Receiver Operator Curve (ROC) analyses using ECAS Total scores and ALS-Specific scores revealed 85% sensitivity and 85% specificity in the detection of cognitive impairment characteristic of ALS (fluency, executive function, language). A five-point borderline range produced optimal values (ALS-Specific Score 77-82, and ECAS-Total Score 105-110). In conclusion, validation against gold standard extensive neuropsychology demonstrated that the ECAS is a screening tool with high sensitivity and specificity to impairment characteristic of ALS.

Variation in the genetic risk(s) of developing Parkinson's disease (PD) undoubtedly contributes to the subsequent phenotypic heterogeneity. Although patients with PD who undergo deep brain stimulation (DBS) are a skewed population, they represent a valuable resource for exploring the relationships between heterogeneous phenotypes and PD genetics. In this series, 94 patients who underwent DBS were screened for mutations in the most common genes associated with PD. The consequent genetic subgroups of patients were compared with respect to phenotype, levodopa (l-dopa), and DBS responsiveness. An unprecedented number (29%) of patients tested positive for at least 1 of the currently known PD genes. Patients with Parkin mutations presented at the youngest age but had many years of disease before needing DBS, whereas glucocerebrosidase (GBA) mutation carriers reached the threshold of needing DBS earlier, and developed earlier cognitive impairment after DBS. DBS cohorts include large numbers of gene positive PD patients and can be clinically instructive in the exploration of genotype-phenotype relationships.

GBA status appears to be an important predictor for non-motor symptom disease progression, after deep brain stimulation surgery.

COVID‐19 research from China suggests health care workers are at risk of distress, have specific concerns, and need support. It remains unknown whether findings are applicable to UK health care staff and whether psychological support based on generic approaches is effective. We administered an online survey at a leading neuroscience hospital in the UK to examine how individual staff characteristics contribute to distress, concerns, and interventions most valued during the COVID‐19 pandemic. We found a high incidence of distress, particularly in females and staff with previous mental health history. Concerns fell into three factors: ‘risk of infection’, ‘work challenges’, and ‘social change’, and were affected by professional role and contact with COVID‐19 patients. These three factors predicted distress. Psychological support and clear updates were deemed most useful, with specific needs affected by age, professional role, and contact with COVID‐19 patients. This is the first documentation of a high incidence of psychological distress predicted by three types of concerns in health care workers of a neuroscience hospital. Distress, concerns, and interventions most valued were all affected by individual staff characteristics. These findings highlight the importance of providing stratified, one to one support interventions, tailored to professional group, and background, rather than more generic approaches. Practitioner points The COVID‐19 pandemic has resulted in a high incidence of psychological distress in UK health care staff. Distress, concerns, and interventions most valued are influenced by individual staff characteristics. Stratified, one‐to‐one support interventions, tailored to professional group, and background, rather than more generic approaches for stress reduction and resilience, are crucial.