The prevalence of epilepsy in this study was in the lower range of previously reported numbers, suggesting that epilepsy may be overestimated in non-population based studies. A substantial part of the healthcare utilization was directly related to epilepsy.

Background: Tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) have unique, individual patterns that pose significant challenges for diagnosis, psycho-education, and intervention planning. A recent study suggested that it may be feasible to use TAND Checklist data and data-driven methods to generate natural TAND clusters. However, the study had a small sample size and data from only two countries. Here, we investigated the replicability of identifying natural TAND clusters from a larger and more diverse sample from the TOSCA study. Methods: As part of the TOSCA international TSC registry study, this embedded research project collected TAND Checklist data from individuals with TSC. Correlation coefficients were calculated for TAND variables to generate a correlation matrix. Hierarchical cluster and factor analysis methods were used for data reduction and identification of natural TAND clusters.

Restraints and seclusions are restrictive interventions used in psychiatric inpatient units when there is an imminent risk of harm to the patient or others. Coercive measures are controversial and can lead to negative consequences, including negative emotions, re-traumatization, injuries, or death. The article summarizes the last 10 years of literature regarding methods and strategies used for reducing seclusions and restraints in child and adolescent psychiatric inpatient units, and reports on their outcomes. The literature was reviewed by searching PubMed and PsycInfo for English-language articles published between May 2010 and May 2020. Eighteen articles were found that described methods or strategies aimed at reducing restraint or seclusion utilization in child and adolescent psychiatric inpatient units. The following interventions were evaluated: Trauma-Informed Care (TIC), Six Core Strategies, Child and Family Centered Care (CFCC), Collaborative & Proactive Solutions (CPS), Strength-Based Care, Modified Positive Behavioral Interventions and Supports (M-PBIS), Behavioral Modification Program (BMP), Autism Spectrum Disorder Care Pathway (ASD-CP), Dialectical Behavior Therapy (DBT), sensory rooms, Mindfulness-Based Stress Reduction Training (MBSR) of staff, and Milieu Nurse-Client Shift Assignments. Most of the interventions reduced the use of seclusions and/or restraints. Two child-centered and trauma-informed initiatives eliminated the use of mechanical restraints. This review shows that the use of coercive measures can be reduced and should be prioritized. Successful implementation requires ongoing commitment on all levels of an organization and a willingness to learn. To facilitate comparisons, future models should evaluate different standardized parameters.

BackgroundCentral nervous system tumours constitute 25% of all childhood cancers; more than half are located in the posterior fossa and surgery is usually part of therapy. One of the most disabling late effects of posterior fossa tumour surgery is the cerebellar mutism syndrome (CMS) which has been reported in up to 39% of the patients but the exact incidence is uncertain since milder cases may be unrecognized. Recovery is usually incomplete. Reported risk factors are tumour type, midline location and brainstem involvement, but the exact aetiology, surgical and other risk factors, the clinical course and strategies for prevention and treatment are yet to be determined.MethodsThis observational, prospective, multicentre study will include 500 children with posterior fossa tumours. It opened late 2014 with participation from 20 Nordic and Baltic centres. From 2016, five British centres and four Dutch centres will join with a total annual accrual of 130 patients. Three other major European centres are invited to join from 2016/17. Follow-up will run for 12 months after inclusion of the last patient. All patients are treated according to local practice. Clinical data are collected through standardized online registration at pre-determined time points pre- and postoperatively. Neurological status and speech functions are examined pre-operatively and postoperatively at 1–4 weeks, 2 and 12 months. Pre- and postoperative speech samples are recorded and analysed. Imaging will be reviewed centrally. Pathology is classified according to the 2007 WHO system. Germline DNA will be collected from all patients for associations between CMS characteristics and host genome variants including pathway profiles.DiscussionThrough prospective and detailed collection of information on 1) differences in incidence and clinical course of CMS for different patient and tumour characteristics, 2) standardized surgical data and their association with CMS, 3) diversities and results of other therapeutic interventions, and 4) the role of host genome variants, we aim to achieve a better understanding of risk factors for and the clinical course of CMS - with the ultimate goal of defining strategies for prevention and treatment of this severely disabling condition.Trial registration Clinicaltrials.gov: NCT02300766, date of registration: November 21, 2014.

Evidence is lacking on how to manage imminent suicidality in adolescents with self-harm. Brief Admission by Self-referral (BA) is a crisis-management intervention, developed for adults with self-harm at risk for suicide. Structured, individualized and based on responsible autonomy, BA aims to provide a respite while minimizing negative effects of hospitalization. This qualitative interview study illuminates adolescents’ experiences of BA, adapted for this target group. Nineteen adolescents aged 14 to 19 years, described BA as helpful for timely rest and recovery to save themselves from impulses to self-harm. The individual contract, which is a prerequisite for access to BA, was perceived to give access to professional support in a safe environment, also among adolescents not using their contract. Being trusted with responsibility to self-admit was also hard work with struggles of self-doubt. Challenges included experiencing distrust from staff and fear of not being able to abstain from self-harm, which BA is conditioned upon. However, this condition was also perceived to induce self-motivation and growth. BA appeared well-adapted to the target group, fulfilling needs of predictability, autonomy, and opportunity for recovery to prevent self-harm. Suggestions for improvement included continually informing staff about important features of BA. To further evaluate benefits and challenges of BA, future research may evaluate clinical and health-economic outcomes and perspectives from parents and caregivers.

Background Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant disorder caused by pathogenic variants in either the TSC1 or TSC2 gene. Common manifestations of TSC have been grouped into major and minor clinical diagnostic criteria and assessed in clinical routine workup. However, case studies point towards the existence of rare disease manifestations and to the potential association of TSC with malignant tumors. In this study we sought to characterize rare manifestations and malignancies using a large cohort of patients. Methods TuberOus SClerosis registry to increAse disease awareness (TOSCA) is a multicenter, international disease registry collecting clinical manifestations and characteristics of patients with TSC, both retrospectively and prospectively. We report rates and characteristics of rare manifestations and malignancies in patients with TSC who had enrolled in the TOSCA registry. We also examined these manifestations by age, sex, and genotype (TSC1 or TSC2). Results Overall, 2211 patients with TSC were enrolled in the study. Rare manifestations were reported in 382 (17.3%) study participants and malignancies in 65 (2.9%). Of these rare manifestations, the most frequent were bone sclerotic foci (39.5%), scoliosis (23%), thyroid adenoma (5.5%), adrenal angiomyolipoma (4.5%), hemihypertrophy and pancreatic neuroendocrine tumors (pNET; both 3.1%). These rare manifestations were more commonly observed in adults than children (66.2% vs. 22.7%), in females versus males (58.4% vs. 41.6%; except for scoliosis: 48.9% vs. 51.1%), and in those with TSC2 versus TSC1 (67.0% vs. 21.1%; except for thyroid adenoma: 42.9% vs. 57.1%). In the 65 individuals with reported malignancies, the most common were renal cell carcinoma (47.7%), followed by breast (10.8%) and thyroid cancer (9.2%). Although malignancies were more common in adult patients, 26.1% were reported in children and 63.1% in individuals < 40 years. TSC1 mutations were over-represented in individuals with malignancies compared to the overall TOSCA cohort (32.1% vs. 18.5%). Conclusion Rare manifestations were observed in a significant proportion of individuals with TSC. We recommend further examination of rare manifestations in TSC. Collectively, malignancies were infrequent findings in our cohort. However, compared to the general population, malignant tumors occurred earlier in age and some tumor types were more common.

The treatment of choice of vein of Galen aneurysmal malformation (VGAM) involves endovascular procedures that can be difficult to perform in high-flow fistulas. We describe the use of rapid ventricular pacing (RVP), a well-known cardiologic technique, to safely treat a high-flow fistula in an infant with VGAM.

Background The elapsed time taken to diagnose tumors of the central nervous system in children and adolescents varies widely. The aim of the present study was to investigate such diagnostic time intervals at a national level in Sweden as they correlate with clinical features. Methods Data prospectively accumulated over a 4‐year period in the Swedish Childhood Cancer Registry from patients aged 0–18 years were pooled, and diagnostic time intervals were analyzed considering tumor location, tumor type, patient age and sex, initial symptoms, and clinical timelines. All six pediatric oncology centers in Sweden contributed to collection of data. Time points for calculating the total diagnostic interval (TDI) defined as the time from symptom onset to diagnosis were reported in 257 of 319 patients (81%). Results The time from symptom onset to the first healthcare consultation, median 2.6 weeks, did not vary significantly between patients categorized according to tumor type or location. The median TDI was 8.3 weeks for the 4‐year study period. Patients with optic pathway glioma (TDI 26.6 weeks), those with tumors of the spinal cord (TDI 25.9 weeks), and those with midline tumors (TDI 24.6 weeks) had the longest lead times. Additionally, older age, too few initial symptoms, and seeking initial redress outside an emergency ward were factors associated with a longer time to diagnosis. Conclusion This study identified several factors associated with delayed diagnosis of central nervous system tumors among Swedish children and adolescents. These novel data ought to help direct future efforts toward clinical improvement.