Anti-N-methyl-D-aspartate receptor encephalitis and positive human herpesvirus-7 deoxyribonucleic acid in cerebrospinal fluid: a case report.

BACKGROUND: Anti-N-methyl-D-aspartate receptor encephalitis is a neuroautoimmune syndrome typically presenting with seizures, psychiatric symptoms, and autonomic dysfunction. Human herpesvirus-7 is often found with human herpesvirus-6 and infects leukocytes such as T-cells, monocytes-macrophages, epithelial cells, and central nervous system cells. The pathogenicity of human herpesvirus-7 is unclear. Cases of anti-N-methyl-D-aspartate receptor encephalitis with human herpesvirus-7 present in cerebrospinal fluid have been documented, but the clinical significance of this finding remains unclear. CASE PRESENTATION: An 11-year-old Caucasian boy was admitted to hospital after a generalized tonic-clonic seizure. Generalized tonic seizures repeated three more times during the day of hospitalization. Blood tests showed minor ongoing inflammation, while brain computed tomography yielded normal results. Brain magnetic resonance imaging showed hyperintense focal alterations in both temporal lobes, hippocampi, and at the base of the right frontal lobe. Positive anti-N-methyl-D-aspartate receptor antibodies were found in both serum and cerebrospinal fluid. Positive novel coronavirus 2 (severe acute respiratory syndrome coronavirus 2) immunoglobulin G antibodies were found in serum. Polymerase chain reaction test for severe acute respiratory syndrome coronavirus 2 was negative. Furthermore, positive human herpesvirus-7 deoxyribonucleic acid was found in cerebrospinal fluid. The patient was treated with acyclovir, human immunoglobulin, and methylprednisolone. The seizures did not repeat, and no psychiatric symptoms were present. The patient made a full recovery. CONCLUSIONS: We present a pediatric case of anti-N-methyl-D-aspartate receptor encephalitis with atypical clinical presentation. The role of human herpesvirus-7 in neurological disorders remains unclear in immunocompetent patients.

Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives.

More than 650 inherited metabolic diseases may present with epilepsy or seizures. These diseases are often multisystem, life-long and induce complex needs of patients and families. Multidisciplinary care involves all stages of disease management: diagnostics, specific or symptomatic, acute and chronic treatments, and integrated care that takes into account not only medical, but also manifold psychosocial, educational, vocational and other needs of patients and their caregivers. Care coordination is indispensable to ensure smooth transitions of care across life and disease stages, including management of emergencies, transition from pediatric to adult services and palliative care. Care pathways are highly diverse and have to find the right balance between highly specialized and locally provided services. While multidisciplinary teams consist of many professionals, a named supervising physician in a highly specialized healthcare setting and a care coordinator are highly important. As the greatest burden of care always falls onto the shoulders of patients and/or families, patient empowerment should be a part of every care pathway and include provision of required information, involvement into common decision-making, patient's and family's education, support for self-management, liaison with peer support groups and emotional/ psychological support. Due to the rarity and complexity of these diseases, sufficient expertise may not be available in a national healthcare system and cross-border services (virtual or physical) in the recently developed European Reference Networks should be ensured through the proper organization of referral systems in each EU and EEA country. Finally, digital technologies are particularly important in the provision of services for patients with rare diseases and can significantly increase the availability of highly specialized services and expertise.

Sedentary Behavior among 6-14-Year-Old Children during the COVID-19 Lockdown and Its Relation to Physical and Mental Health.

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.

Juvenile Huntington's disease: two case reports and a review of the literature.

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.

Screen Use During Meals Among Young Children: Exploration of Associated Variables.

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.

The impact of music on the bioelectrical oscillations of the brain.

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.

Novel mutation in a patient with late onset GLUT1 deficiency syndrome.

Glucose transporter 1 deficiency syndrome (GLUT1-DS) is an inborn error of metabolism caused by impaired glucose transport through blood brain barrier due to mutation in SLC2A1 gene, encoding transporter protein. Clinical spectrum includes various signs and symptoms, ranging from severe epileptic encephalopathy to movement disorders. The diagnosis of GLUT1-DS requires hypoglycorrhachia in the presence of normoglycaemia with a reduced cerebrospinal fluid (CSF):plasma glucose ratio. The absence of pathogenic mutation in SLC2A1 gene does not exclude the diagnosis. This case report describes a patient with late onset GLUT1-DS with a novel sporadic mutation c.539T>A, p.Met180Lys in exon 5 of the SLC2A1 gene. The dominating clinical features were epilepsy and paroxysmal dyskinesias provoked by infection, emotional stress and fasting. The ictal EEG was characterized by generalized paroxysmal 3-3.5Hz spike-slow wave complexes (absences). Treatment with ketogenic diet showed clinical improvement with the reduction of paroxysmal dyskinesias.

Chronobiological types, duration of sleeping and psycho-emotional condition of teenagers.

Sleep is a biological process that operates according to day and night cycles. This self-regulatory system is universal in all organisms, including humans and mammals. For this reason, the topic is widely analysed in the existing literature; however, no studies about chronobiological types of teenagers have been conducted in Lithuania before. 253 schoolchildren, 13 to 18 years of age, were surveyed in schools of Vilnius and Panevezys, Lithuania. Responses were gathered during the period from September 2013 to February 2014. The survey consists of four parts: demographical data, Morningness-Eveningness Questionnaire, PedsQL 4.0 survey of life quality, and HADS - Hospital Anxiety and Depression Survey. In total, 115 (45.5%) boys and 138 (54.5%) girls participated in the survey. On average, boys sleep 7.10 (±1.27) hours, compared to 6.79 (±1.20) (p = 0.05) hours for girls. 94 (37.2%) survey participants feel sleepy and/or very sleepy at school. 133 (52.6%) respondents find it difficult/very difficult to wake up in the morning. 218 (86.2%) respondents use the computer before going to sleep: 96 (83.5%) boys and 122 (88.4%) girls. Based on a subjective evaluation, 187 (73.9%) respondents categorize themselves as the evening type and 66 (26.1%) as the morning type. 13 (5.1%) respondents exhibit symptoms of depression. The majority of the respondents categorize themselves as evening/middle chronotypes. The average duration of sleep is 6.93 (±1.24) hours. 86.2% of the respondents use the computer before going to sleep. Half of the children may have difficulties waking up in the morning. One out of three children feels sleepy at school.

Melatonin secretion in children with epilepsy.

This study examined melatonin (MLT) system in children with epilepsy. Diurnal patterns of salivary MLT, urinary metabolite 6-sulphatoxymelatonin, core body temperature, pulse and blood pressure were measured in 51 children with epilepsy (6.6-17.9 years) and 29 comparison children (5.5-17.3 years). The children with epilepsy preserved MLT and other circadian rhythms. In nine children with epilepsy (17.6%), peak salivary MLT concentrations were very high. There were no associations between MLT secretion/excretion parameters (diurnal profile, peak nocturnal concentrations, area under the time curve, duration of elevated concentrations, acrophase) and seizure characteristics (time, type of seizures, antiepileptic medications). The study observations are important for understanding of the MLT system in epilepsy and for exploring the potential for seizure treatment with melatonin.

Diurnal melatonin patterns in children: ready to apply in clinical practice?

Experimental and clinical studies suggest that endogenous melatonin plays an important role in pediatric sleep regulation. This finding led to the introduction of exogenous melatonin to treat sleep disturbances. Optimizing the treatment algorithm involves a review of melatonin measurements and interpretations in clinical practice. Diurnal patterns of salivary melatonin and urinary metabolite 6-sulfatoxymelatonin were investigated in 29 children and adolescents (age, 5.5-17.3 years) by measuring concentrations every 3 hours. Relationships between melatonin parameters (peak concentrations and area under the time curve) and anthropometric measures (height, weight, and body mass index), age, and sleep scores (Sleep Disturbance Scale for Children) were investigated. High interindividual variability was evident in melatonin diurnal profiles. Melatonin production (adjusted to body weight) decreased with age and sexual maturation (P < 0.00). Both salivary melatonin and its urinary metabolite measurements can be used to evaluate the melatonin system in children. However, the high interindividual variability of diurnal melatonin concentrations challenges clinical applications in regard to diagnostic purposes and the criteria for initiating exogenous melatonin therapy. Further investigations and the development of criteria for clinical evaluations of the pediatric melatonin system are needed.

[Mothers' experience with their developmentally disordered children: specificity of internal representations]. / Motinu patirtis auginant sutrikusios raidos vaikus: vidiniu reprezentaciju ypatybes.

The purpose of the present study was to examine mothers' internal representations of experience with their developmentally disordered children. Maternal perceptions of children have been considered important in clinical work with developmentally disordered children and their families. Using developmental disability sample of 17-34-month-old children, we compared mothers' representations of their children in clinically referred and not referred groups, using the Working Model of the Child Interview. Twenty mothers of children with developmental disorders and twenty matched controls participated. Six (30%) children of experiment group had a diagnosis of cerebral palsy; 5 (25%) were diagnosed with Down's syndrome, while the remaining 9 (45%) had a diagnosis of mixed specific developmental disorder. Many children with disability also were diagnosed with heart disease, epilepsy, and hydrocephalus. Maternal representations' measures were compared to their self-perceived impact of child disability on family, their sensitivity to child, and some demographic and family characteristics. Compared to controls, mothers of children with developmental disability had representations of their children that were significantly more likely to be classified distorted or disengaged (chi(2)=7.24; df=2; P<0.05). More severe disability status was significantly associated with mothers' disengaged representations, fear for safety of children, and intensity of involvement in care giving (P<0.05). The study did not confirm relationships between maternal representation classifications and their self-perceived impact of child disability on family. No differences were found concerning mothers' emotional empathy index in clinical and control groups. The differences in mean emotional empathy scores were related to many aspects of maternal internal representations and to some areas of self-perceived stress. The results of Working Model of the Child Interview did not correlate with child age and gender, birth order, and parents' level of education.