Cytogenic testing is routinely applied in most neurological centres for severe paediatric epilepsies. However, which characteristics of copy number variants (CNVs) confer most epilepsy risk and which epilepsy subtypes carry the most CNV burden, have not been explored on a genome-wide scale. Here, we present the largest CNV investigation in epilepsy to date with 10 712 European epilepsy cases and 6746 ancestry-matched controls. Patients with genetic generalized epilepsy, lesional focal epilepsy, non-acquired focal epilepsy, and developmental and epileptic encephalopathy were included. All samples were processed with the same technology and analysis pipeline. All investigated epilepsy types, including lesional focal epilepsy patients, showed an increase in CNV burden in at least one tested category compared to controls. However, we observed striking differences in CNV burden across epilepsy types and investigated CNV categories. Genetic generalized epilepsy patients have the highest CNV burden in all categories tested, followed by developmental and epileptic encephalopathy patients. Both epilepsy types also show association for deletions covering genes intolerant for truncating variants. Genome-wide CNV breakpoint association showed not only significant loci for genetic generalized and developmental and epileptic encephalopathy patients but also for lesional focal epilepsy patients. With a 34-fold risk for developing genetic generalized epilepsy, we show for the first time that the established epilepsy-associated 15q13.3 deletion represents the strongest risk CNV for genetic generalized epilepsy across the whole genome. Using the human interactome, we examined the largest connected component of the genes overlapped by CNVs in the four epilepsy types. We observed that genetic generalized epilepsy and non-acquired focal epilepsy formed disease modules. In summary, we show that in all common epilepsy types, 1.5–3% of patients carry epilepsy-associated CNVs. The characteristics of risk CNVs vary tremendously across and within epilepsy types. Thus, we advocate genome-wide genomic testing to identify all disease-associated types of CNVs.

In this article we conclude the main scientific studies into the changes in the bioelectrical brainwave activity that occur while listening to music. A brainwave spectral analysis, derived from findings of electroencephalograms, is a powerful tool to obtain deep and objective insights into the effects of music on the brain. This capacity is being investigated in various contexts. Starting with a healthy population, studies also seek to determine the impact of music in such conditions as disorders of consciousness, psychiatric diseases, and chronic conditions, as well as to further explore the role of music for rehabilitation purposes. Supplemental investigations in this field are needed not only to deepen the knowledge of general neurophysiology of listening to music, but also to possibly open new perspectives for its broader use in clinical practices.

Background and Objectives: There is evidence that eating meals or snacks while watching TV is an obesogenic factor. Moreover, the patterns of TV and other screen use during meals begin early and persist. However, there are only a few studies to date which address the prevalence and predictors of young children’s exposure to screen during mealtimes. Thus, the present study aimed to investigate the prevalence and the associated factors of screen use during meals in early childhood. Materials and Methods: A cross sectional survey was conducted in Lithuania. Data of 847 children aged 2 to 5 years old (51.5% boys) were analyzed in this study. Parents completed the Child Behavior Checklist (CBCL/1½-5) and reported their children’s daily screen time, exposure to background TV, screen use during child’s meals, child and parental height and weight, and sociodemographic data. Results: More than half of children were exposed to screen during meals: 33.7% occasionally, several times per week or per month, and 22%—daily or during every meal. Overall daily screen time, background TV, consumption of junk food, child age, and emotional and behavioral problems were related to mealtime screen use (all associations significant at p < 0.01). Longer daily screen time (OR 1.01; 95% CI 1.00–1.01), more background TV (OR 1.26; 95% CI 1.10–1.45), and elder child age (OR 1.02; 95% CI 1.00–1.03) were significant predictors of occasional use of screen during meals. Also, longer daily screen time (OR 0.99; 95% CI 0.98–0.99), background TV (OR 0.78; 95% CI 0.66–0.91) together with no siblings’ status of a child (OR 0.42; 95% CI 0.25–0.69) increased the probability that children were fed in front of screens daily. Conclusions: This study confirmed the unfavorable associations among screen use during meals, daily screen time and junk food consumption in early childhood. In addition, first-time parents should get particular health providers’ attention as they are more likely to use screens during child’s mealtime.

As a result of the outbreak of SARS-CoV-2 and consequent restrictions in spring 2020, children in many countries might be engaged in more sedentary behavior and have limited possibilities to access the necessary level of physical activity to maintain their physical and mental health. The aim of this study was to explore the relationships between child sedentary behavior, physical activity, mental and physical health, and parental distress in a sample of Lithuanian children aged 6–14 years during the COVID-19 pandemic lockdown in March–June 2020. Parents of 306 children (52.9% female) completed an online survey in May–June 2020 and reported on their children’s screen time for educational and recreational (leisure) purposes, the level of physical activity and time outdoors, somatic symptoms, and emotional well-being and behavior. Parents also reported on stressful life events in the family and personal distress. The results revealed that 57.5% of children exceeded the recommended maximum of 2 h of recreational screen time per day, and 33.6% of the children did not meet the recommended guidelines of 60 min of physical activity per day. Longer screen time for educational purposes and parental distress significantly predicted a higher prevalence of somatic symptoms in children and parental distress also served as a significant predictor of children’s decreased emotional well-being and behavior. These results highlight the importance of psychosocial support interventions for parents who experience distress when raising children at a stressful time, such as during a pandemic.

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Dėl COVID-19 pandemijos paskelbus karantiną, per trumpą laiką turėjo persiorientuoti ir persiorganizuoti visa švietimo sistema, kai vaikų ugdymo (dalykinio, socialinio, net fizinio) forma pakeista iš tiesioginės į nuotolinio ugdymo formą. Šis nenumatytų sąlygų sukeltas staigus pokytis paveikė ugdymo proceso dalyvių (vaikų, tėvų, mokytojų) sąveiką, įsitraukimą ir vaidmenis ugdymo procese; ugdymo aplinką, turinį ir pobūdį. Tai analogų neturinti patirtis, kurią būtina tirti idant būtų geriau pasirengta galimoms ateities krizėms. Todėl įvairių sričių ir krypčių - edukologijos, psichologijos, socialinio darbo, sociologijos ir medicinos mokslininkai susijungė bendram tyrimo projektui „Nuotolinis vaikų ugdymas pandemijos dėl COVID-19 metu: grėsmės bei galimybės ekosisteminiu požiūriu“, kurį 2020 m. birželio – gruodžio mėnesiais finansavo Lietuvos mokslo taryba (sutarties Nr. S-COV-20-11). Pagrindinis šio projekto tikslas - visapusiškai analizuoti privalomo nuotolinio ugdymo(si) iššūkius ugdymo procesui ir jo dalyviams (vaikams, tėvams, ugdytojams), grėsmes ir galimybes priešmokyklinių ir pirmų - aštuntų klasių vaikų fizinei ir psichikos sveikatai, saugumui ir mokymosi sėkmei bei parengti rekomendacijas švietimo, socialinės politikos formuotojams ir vykdytojams, mokyklų vadovams, mokytojams ir tėvams. Ši mokslo studija - tai labai intensyvaus plataus tyrimo, atlikto per trumpą laiką daugiadisciplininės mokslininkų komandos, rezultatas.

Background Huntington’s disease is a rare, autosomal dominant neurodegenerative disease characterized by motor, cognitive, and psychiatric symptoms. Usually, the disease symptoms first appear around the age of 40, but in 5–10% of cases, they manifest before the age of 21. This is then referred to as juvenile Huntington’s disease. According to the small number of cases reported in the literature, the course of juvenile Huntington’s disease significantly differs from adult onset and shows significant interpatient variability, making every case unique. Case presentation Our study aims to highlight the complexity and diversity of rare juvenile Huntington’s disease. We report cases of two Caucasian patients with chronic tics referred to the Huntington’s Disease Competence Center of Vilnius University Hospital Santaros Klinikos with suspicion of juvenile Huntington’s disease due to the appearance of chronic motor tics, and behavior problems. The diagnosis of juvenile Huntington’s disease was confirmed on both clinical and genetic grounds. In both cases described, the patients developed symptoms in all three main groups: motor, cognitive, and psychiatric. However, the first patient was experiencing more severe psychiatric symptoms; in the second case, motor symptoms (rigidity, tremor) were more prominent. In both cases, apathy was one of the first symptoms and affected patients’ motivation to participate in treatment actively. These two case descriptions serve as an important message for clinicians seeing patients with chronic tics and gradually worsening mood and behavior, indicating the need to investigate them for rare genetic disorders. Conclusions Description of these two clinical cases of juvenile Huntington’s disease provides insight into how differently it manifests and progresses in young patients and the difficulties the patients and their families face. There were different but painful ways for families to accept the diagnosis. Because the disease inevitably affects the patient’s closest ones, it is crucial to also provide adequate psychological and social support to all the family members. Establishment of multidisciplinary specialist centers for Huntington’s disease, as demonstrated by our experience, not only allows timely diagnosis and treatment plans but also ensures thorough disease management and care for patients and systematic support for their families.