Which resources help young people to prevent and overcome mental distress in deprived urban areas in Latin America? A protocol for a prospective cohort study

Introduction Improving the mental health of young people is a global public health priority. In Latin America, young people living in deprived urban areas face various risk factors for mental distress. However, most either do not develop mental distress in the form of depression and anxiety, or recover within a year without treatment from mental health services. This research programme seeks to identify the personal and social resources that help young people to prevent and recover from mental distress. Methods and analysis A cross-sectional study will compare personal and social resources used by 1020 young people (aged 15-16 and 20-24 years) with symptoms of depression and/or anxiety and 1020 without. A longitudinal cohort study will follow-up young people with mental distress after 6 months and 1 year and compare resource use in those who do and do not recover. An experience sampling method study will intensively assess activities, experiences and mental distress in subgroups over short time periods. Finally, we will develop case studies highlighting existing initiatives that effectively support young people to prevent and recover from mental distress. The analysis will assess differences between young people with and without distress at baseline using t-tests and χ 2 tests. Within the groups with mental distress, multivariate logistic regression analyses using a random effects model will assess the relationship between predictor variables and recovery. Ethics and dissemination Ethics approvals are received from Ethics Committee in Biomedical Research, Faculty of Medicine, University of Buenos Aires; Faculty of Medicine-Research and Ethics Committee of the Pontificia Universidad Javeriana, Bogotá; Institutional Ethics Committee of Research of the Universidad Peruana Cayetano Heredia and Queen Mary Ethics of Research Committee. Dissemination will include arts-based methods and target different audiences such as national stakeholders, researchers from different disciplines and the general public. Trial registration number ISRCTN72241383

The phenotypic spectrum associated with loss-of-function variants in monogenic epilepsy genes in the general population

Variants in monogenic epilepsy genes can cause phenotypes of varying severity. For example, pathogenic variants in the SCN1A gene can cause the severe, sporadic, and drug-resistant Dravet syndrome or the milder familiar GEFS + syndrome. We hypothesized that coding variants in epilepsy-associated genes could lead to other disease-related phenotypes in the general population. We selected 127 established monogenic epilepsy genes and explored rare loss-of-function (LoF) variant associations with 3700 phenotypes across 281,850 individuals from the UK Biobank with whole-exome sequencing data. For 5.5% of epilepsy genes, we found significant associations of LoF variants with non-epilepsy phenotypes, mostly related to mental health. These findings suggest that LoF variants in epilepsy genes are associated with neurological or psychiatric phenotypes in the general population. The evidence provided may warrant further research and genetic screening of patients with atypical presentation and inform clinical care of comorbid disorders in individuals with monogenic epilepsy forms

Incidence and prevalence of major epilepsy-associated brain lesions

Epilepsy surgery is an effective treatment option for drug-resistant focal epilepsy patients with associ-ated structural brain lesions. However, little epidemiological data are available regarding the number of patients with these lesions. We reviewed data regarding (1) the prevalence and incidence of epilepsy; (2) the proportion of epilepsy patients with focal epilepsy, drug-resistant epilepsy, and drug-resistant focal epilepsies; and (3) the number of epilepsy presurgical evaluations and surgical resections. We also assessed the relative proportion of brain lesions using post-surgical histopathological findings from 541 surgical patients from the Cleveland Clinic and 9,523 patients from a European multi-center cohort. Data were combined to generate surgical candidate incidence and prevalence estimates and the first lesion-specific estimates for hippocampal sclerosis (HS), low-grade epilepsy-associated brain tumors (LEAT), malformations of cortical development (MCD), glial scars, vascular malformations, and encephalitis. The most frequently diagnosed brain lesions were HS (incidence = 2.32 +/- 0.26 in 100,000, prevalence = 19.40 +/- 2.16 in 100,000) for adults and MCD (incidence = 1.15 +/- 0.34 in 100,000, prevalence = 6.52 +/- 1.89 in 100,000) for children. Our estimates can guide patient advocacy groups, clin-icians, researchers, policymakers in education, development of health care strategy, resource allocation, and reimbursement schedules.(c) 2022 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY license (http:// creativecommons.org/licenses/by/4.0/)