Hypomyelination with atrophy of the basal ganglia and cerebellum is a rare leukoencephalopathy that was identified using magnetic resonance imaging in 2002. In 2013, whole exome sequencing of 11 patients with the disease revealed that they all had the same de novo mutation in TUBB4A, which encodes tubulin β-4A. We investigated the mutation spectrum in a cohort of 42 patients and the relationship between genotype and phenotype. Patients were selected on the basis of clinical and magnetic resonance imaging abnormalities that are indicative of hypomyelination with atrophy of the basal ganglia and cerebellum. Genetic testing and a clinical inventory were performed, and sequential magnetic resonance images were evaluated using a standard protocol. The heterozygous TUBB4A mutation observed in the first 11 patients was the most common (25 patients). Additionally, 13 other heterozygous mutations were identified, located in different structural domains of tubulin β-4A. We confirmed that the mutations were de novo in all but three patients. In two of these three cases we lacked parental DNA and in one the mutation was also found in the mother, most likely due to mosaicism. Patients showed a phenotypic continuum ranging from neonatal to childhood disease onset, normal to delayed early development and slow to more rapid neurological deterioration. Neurological symptomatology consisted of extrapyramidal movement abnormalities, spasticity, ataxia, cognitive deficit and sometimes epilepsy. Three patients died and the oldest living patient was 29 years of age. The patients' magnetic resonance images showed an absent or disappearing putamen, variable cerebellar atrophy and highly variable cerebral atrophy. Apart from hypomyelination, myelin loss was evident in several cases. Three severely affected patients had similar, somewhat atypical magnetic resonance image abnormalities. The study results were strongly suggestive of a genotype-phenotype correlation. The 25 patients with the common c.745G>A mutation generally had a less rapidly progressive disease course than the 17 cases with other TUBB4A mutations. Overall, this work demonstrates that the distinctive magnetic resonance imaging pattern for hypomyelination with atrophy of the basal ganglia and cerebellum defines a homogeneous clinical phenotype of variable severity. Patients almost invariably have prominent extrapyramidal movement abnormalities, which are rarely seen in patients with hypomyelination of different origin. A dominant TUBB4A mutation is also associated with dystonia type 4, in which magnetic resonance images of the brain seem normal. It is highly likely that there is a disease continuum associated with TUBB4A mutations, of which hypomyelination with atrophy of the basal ganglia and cerebellum and dystonia type 4 are the extremes. This would indicate that extrapyramidal movement abnormalities constitute the core feature of the disease spectrum related to dominant TUBB4A mutations and that all other features are variable.

Background: Congenital cytomegalovirus infection (cCMV) is a leading cause of sensorineural hearing loss (SNHL) and neurodevelopmental disabilities in developed countries. Although high cCMV rates have been reported in populations with high seroprevalence, the cCMV prevalence in low/middle-income countries in Europe has not been defined. Objective: To determine cytomegalovirus (CMV) seroprevalence and the cCMV prevalence in Bosnia and Herzegovina. Methods: Between March 2010 and February 2019, 5222 sera samples from patients seen at the University Clinical Hospital Mostar were tested for CMV IgG. The cord blood samples collected from 2091 infants between July 2011 and January 2013 were analyzed for CMV IgG and CMV DNA. The cCMV prevalence was determined by testing saliva swabs from 1293 infants between November 2015 and October 2016. Results: The overall CMV IgG prevalence was 81.4% (95% confidence interval: 0.8–0.82). Significantly higher prevalence was observed among females (84.9%) than in males (77.0%), and the rate increased from 50.8% in the 1 to 5 years group to 97.7% in the group > 65 years old. Most cord blood samples (2091/1925, 92.1%) were CMV IgG positive, and 2 (0.1%) were CMV DNA positive. Of the 1293 saliva swabs, 8 (0.62%; 95% confidence interval: 0.3–1.2) were CMV positive. All 8 infected infants had asymptomatic cCMV, and none had SNHL at 18 months of age. Conclusions: In a highly CMV seropositive population, the prevalence of cCMV was lower compared with that reported from other low/middle-income countries populations. None of the infected infants had symptomatic infection or SNHL at 18 months.

Poliklinika za zaštitu djece i mladih Grada Zagreba; 2 Gradski ured za socijalnu zaštitu i osobe s invaliditetom,

Besides causing serious threats to people’s physical health and lives, pandemics can lead to psychological distress. This study aimed to investigate the relationship between the COVID-19 pandemic and mental health among adults in Croatia and its association with sociodemographic factors, perceptions of pandemic, locus of control, coping with stress and perceived social support. A cross-sectional, observational study was conducted using a snowball sampling technique. The online survey collected information on sociodemographics, chronic health conditions, self-isolation measure, perception of COVID-19, mental health status, locus of control, coping with stress and perception of social support. Mental health status was assessed by the Depression, Anxiety and Stress Scale (DASS-21). A total of 1482 participants (252 males and 1230 females) completed the study. The mean age of the participants was 33.3 ± 12.2 years, 43 % of the participants had elevated levels of anxiety and 18 % suffered from severe and extremely severe anxiety, 33 % had elevated levels of depression and 12 % suffered from severe and extremely severe depression, and 55 % had elevated levels of stress with 13 % suffering from severe and extremely severe stress. The strongest predictors of mental health symptoms were coping with stress, locus of control, and perceived social support. These results highlight the necessity of implementing psychological interventions during the pandemic to improve the mental health of the adults and vulnerable groups in particular that should include identified factors associated with better mental health status such as coping with stress focused on problem, social diversion and social support.

Although a number of studies have been conducted over the past decade on the association between screen time and developmental outcomes in children, most studies mainly deal with the problem of obesity and physical fitness of children, while the studies on the association of screen time and mental health are rare, and there is especially a lack of research concerning internalized problems in children. Early detection of psychological problems is one of the foundations of later successful prevention and treatment, and some research shows that as many as 20% of children, including kindergarten children, exhibit certain psychological difficulties, and also that certain behaviours of preschool children are associated with various mental disorders and problems in adulthood. The aim of this research was to examine the correlation between total screen time and some indicators of the mental health of children - emotional reactivity, anxiety/depression, somatic problems, withdrawal, sleeping problems, attention problems, and other problems, in a sample of Croatian children attending kindergartens. We also examined moderating effects of child’s involvement in other activities, such as physical activity, playing with peers, overall outdoor activities, and time spent in other activities. In this paper, potential risk and protective factors related to screen time were investigated in preschool children, with a focus on their mental health.