Common variation in the gene encoding the neuron-specific RNA splicing factor RNA Binding Fox-1 Homolog 1 (RBFOX1) has been identified as a risk factor for several psychiatric conditions, and rare genetic variants have been found causal for autism spectrum disorder (ASD). Here, we explored the genetic landscape of RBFOX1 more deeply, integrating evidence from existing and new human studies as well as studies in Rbfox1 knockout mice. Mining existing data from large-scale studies of human common genetic variants, we confirmed gene-based and genome-wide association of RBFOX1 with risk tolerance, major depressive disorder and schizophrenia. Data on six mental disorders revealed copy number losses and gains to be more frequent in ASD cases than in controls. Consistently, RBFOX1 expression appeared decreased in post-mortem frontal and temporal cortices of individuals with ASD and prefrontal cortex of individuals with schizophrenia. Brain-functional MRI studies demonstrated that carriers of a common RBFOX1 variant, rs6500744, displayed increased neural reactivity to emotional stimuli, reduced prefrontal processing during cognitive control, and enhanced fear expression after fear conditioning, going along with increased avoidance behaviour. Investigating Rbfox1 neuron-specific knockout mice allowed us to further specify the role of this gene in behaviour. The model was characterised by pronounced hyperactivity, stereotyped behaviour, impairments in fear acquisition and extinction, reduced social interest, and lack of aggression; it provides excellent construct and face validity as an animal model of ASD. In conclusion, convergent translational evidence shows that common variants in RBFOX1 are associated with a broad spectrum of psychiatric traits and disorders, while rare genetic variation seems to expose to early-onset neurodevelopmental psychiatric disorders with and without developmental delay like ASD, in particular. Studying the pleiotropic nature of RBFOX1 can profoundly enhance our understanding of mental disorder vulnerability.

• MeSH
• celogenomová asociační studie MeSH
• depresivní porucha unipolární * genetika   MeSH
• duševní poruchy * genetika   MeSH
• lidé MeSH
• myši knockoutované MeSH
• myši MeSH
• poruchy autistického spektra * genetika   MeSH
• sestřihové faktory genetika   MeSH
• zvířata MeSH
• Check Tag
• lidé MeSH
• myši MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• RBFOX1 protein, human MeSH Prohlížeč
• Rbfox1 protein, mouse MeSH Prohlížeč
• sestřihové faktory MeSH

BACKGROUND: Organic acidurias (OADs) and urea cycle disorders (UCDs) are inborn metabolic disorders with a risk for acute and chronic metabolic decompensation resulting in impairments of the central nervous system and other organ systems. So far, there is no systematic study of intellectual functioning, behavioural/emotional problems and health-related quality of life (HRQoL), and how these domains are connected. METHODS: Data of 152 patients with OADs (n = 100) and UCDs (n = 52) from the European Registry and Network of intoxication type Metabolic Diseases (E-IMD) using standardized instruments were compared with normative data. RESULTS: Behavioural/emotional problems are increased in OADs or UCDs patients by a factor of 2.5 (3.0), in female asymptomatic carriers of X-linked inherited UCD ornithine transcarbamylase deficiency (fasOTCD) by a factor of 1.5. All groups show similar patterns of behavioural/emotional problems, not different from epidemiological data. Mental disability (IQ ≤ 70) was found in 31% of OAD, 43% of UCD, but not in fasOTCD subjects. HRQoL was decreased in the physical domain, but in the normal range. Behavioural/emotional problems were significantly associated with intellectual functioning (OR = 6.24, 95%CI: 1.39-27.99), but HRQoL was independent from both variables. CONCLUSIONS: Patients with OADs and UCDs show increased frequencies of mental disability and behavioural/emotional problems. Profiles of behavioural/emotional problems were similar to epidemiological data. Intellectual disability and behavioural/emotional problems were strongly associated. Patients' HRQoL was in the normal range, possibly compensated by coping strategies of their families. Diagnostics and clinical care of OAD/UCD patients should be improved regarding behavioural/emotional, intellectual and quality of life aspects.

• MeSH
• duševní poruchy etiologie   metabolismus   MeSH
• emoce MeSH
• kvalita života MeSH
• lidé MeSH
• mentální retardace etiologie   metabolismus   MeSH
• metabolické nemoci komplikace   metabolismus   MeSH
• nemoc z nedostatku ornithinkarbamoyltransferázy komplikace   metabolismus   MeSH
• předškolní dítě MeSH
• vrozené poruchy cyklu močoviny komplikace   metabolismus   MeSH
• vrozené poruchy metabolismu komplikace   metabolismus   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Although patients with insomnia often show a discrepancy between self-reported and objective sleep parameters, the role of and change in this phenomenon during treatment remain unclear. The present study aimed to assess the effect of cognitive behavioural therapy for insomnia on subjective and objective sleep discrepancy of total sleep time, sleep-onset latency and wake after sleep onset. The total sleep time discrepancy was also assessed across the entire therapy. The second aim was to examine the treatment outcome of two insomnia groups differing in sleep perception. Thirty-six adults with insomnia (mean age = 46.7 years, SD = 13.9; 22 females) were enrolled in the final analyses. Patients underwent a 6-week group cognitive behavioural therapy for insomnia programme. Sleep diary and actigraphy measurements were obtained during the therapy. Patients who underestimated total sleep time (n = 16; underestimating group) were compared with patients who accurately perceived or overestimated total sleep time (n = 20; accurate/overestimating group). After cognitive behavioural therapy for insomnia, a significant decrease of total sleep time and sleep-onset latency discrepancy was observed without a change in wake after sleep onset discrepancy in the total sample. Only the underestimating group reported decreased sleep-onset latency discrepancy after the treatment, whereas total sleep time discrepancy significantly changed in both groups. The underestimating group showed a significant decrease of total sleep time discrepancy from Week 1 to Week 2 when the sleep restriction was implemented, whereas the accurate/overestimating group showed the first significant change at Week 4. In conclusion, both groups differing in sleep perception responded similarly to cognitive behavioural therapy for insomnia, although different In conclusion, both groups differing in sleep perception responded similarly to cognitive behavioural therapy for insomnia, although different therapeutic components could play important roles in each group. components could play important roles in each group.

• Klíčová slova
• actigraphy, cognitive behavioural therapy for insomnia, insomnia, objective - subjective sleep discrepancy, sleep misperception,
• MeSH
• aktigrafie metody   MeSH
• kognitivně behaviorální terapie metody   MeSH
• lidé středního věku MeSH
• lidé MeSH
• polysomnografie MeSH
• poruchy iniciace a udržování spánku diagnóza   patofyziologie   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Adjunctive treatment of behavioral disorders in patients with cognitive deficit The article provides an overview of the pharmacotherapy of behavioural and psychological symptoms of dementia (BPSD) in the context of evidence-based medicine. Its goal is to provide readers with a practical and educational overview of managing these symptoms. Cognitive disorders, including dementia, result from the disruption of higher cortical functions of the brain. Dementia often manifests not only through cognitive dysfunction but also through BPSD, such as agitation, aggression, anxiety, psychosis, and sleep disturbances. These symptoms affect up to 97% of patients with dementia and significantly reduce the quality of life for both patients and caregivers. BPSD are often more stressful for patients and caregivers than the cognitive symptoms themselves. Behavioural symptoms include a wide range of manifestations from non-aggressive forms such as pacing and repetitive movements to aggressive and agitated behaviour (verbal and physical). Psychological symptoms can include depression, anxiety, and psychotic symptoms such as paranoia and delusions. The causes of BPSD can be varied, as well as their risk factors (including e.g. co-medication, comorbidities, the patient's personality traits, inappropriate communication by caregivers, and environmental influences). The pharmacotherapy of BPSD is complex and often involves the use of antipsychotics, antidepressants, benzodiazepines, or acetylcholinesterase inhibitors and memantine. Due to the diversity of manifestations and causes of BPSD, a unified pharmacotherapeutic approach cannot be applied. Non-pharmacological approaches should always be preferred, except in cases of severe depression, psychosis, or aggression that may endanger the patient or someone else. In practice, many medications indicated for BPSD therapy are used off-label. The pharmacotherapy of BPSD should only begin after ruling out other causes of BPSD. Furthermore, it should only be initiated after considering all risks and potential benefits, starting with low geriatric doses, monitoring side effects, regularly reassessing effectiveness, and administering medications for the shortest possible duration should be also applied.

• Klíčová slova
• behavioural and psychological symptoms of dementia, dementia., psychopharmacology,
• MeSH
• antipsychotika terapeutické užití   MeSH
• demence * komplikace   MeSH
• duševní poruchy farmakoterapie   MeSH
• kognitivní poruchy etiologie   farmakoterapie   MeSH
• lidé MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• Názvy látek
• antipsychotika MeSH

BACKGROUND: There is growing interest in the role of microbial agents in the causation of psychiatric disorders. The neurotropic protozoan parasite Toxoplasma gondii is one of the main candidates and has been associated with various psychiatric conditions, including schizophrenia. METHODS: A narrative review of the literature from the main medical databases (Medline, PubMed, PsycINFO), Google Scholar and Google using combinations of applicable terms. RESULTS: T. gondii affects the brain in both the acute and the latent stages of infection causing apparent brain pathologies in infected rodents and both immuno-compromised and immuno-competent humans. In immuno-competent individuals, behavioural disorders are primarily related to the latent stages of the illness. Behavioural/mental disorders that include schizophrenia, mood disorders, personality changes and cognitive impairments may be related to infection with T. gondii. Evidence for a behavioural effect of T. gondii comes from observational reports in animal models and controlled behavioural analysis in humans. Indirect clues of infection also come from raised seroprevalence or serotitres of antitoxoplasma antibodies among those with mental disorders. The pathophysiologic mechanism through which T. gondii may exert its effect is not clear, but direct impact on the brain and changes in neuroimmunomodulation, neurotransmission and some gene-environment interactions are postulated. CONCLUSION: There is evidence supporting a potential role of T. gondii infection in the onset of some behavioural disorders. Confirmation of such a role would prove a significant breakthrough in the search for the aetiology, treatment and prevention of behavioural disorders, such as schizophrenia. However, the associations remain preliminary.

• MeSH
• duševní poruchy etiologie   MeSH
• lidé MeSH
• toxoplazmóza komplikace   patofyziologie   psychologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

OBJECTIVES: A combination of antidepressants with the cognitive-behavioural therapy showed effectiveness in treatment-resistant patients with panic disorder. This prospective study intended to establish how childhood adverse experiences, self-stigma, dissociation, and severity of psychopathology influence the effectiveness of combined cognitive-behavioural therapy and pharmacotherapy in patients with treatment-resistant panic disorder. METHODS: One hundred and ten patients were included into the study and one hundred five subjects finished the study. After admission, the subjects were assessed during the first two days of hospitalization. Rating scales were administered before the beginning of the cognitive behavioural therapy (measurement-1) and at the end of the treatment which was after six weeks (measurement-2). Patients with panic disorder were treated using a combination of group cognitive-behavioural therapy and antidepressants. The usual antidepressant dosage range was used. Before admission to intensive cognitive behavioural therapy program, the patients were unsuccessfully treated by antidepressants for minimum 3 months, which defined them as pharmacoresistant. RESULTS: Hospitalized pharmacoresistant patients with panic disorder improved significantly throughout the 6-week intensive CBT program in all measurements that assessed the overall severity of the disorder, the degree of general anxiety and depression and the severity of specific symptoms of panic disorder and agoraphobia. The rate of improvement was negatively related to sexual abuse in childhood, presence of comorbid personality disorder, and positively with the severity of the disorder at the beginning, and the level of self-stigma at the beginning of treatment. Improvement in symptoms correlates significantly with decreasing of dissociation during the treatment.severity of depressive symptoms. The earlier development of the disorder is linked to higher score in childhood adverse events, higher level of dissociation and pathological dissociation, and higher level of self-stigma. CONCLUSIONS: Our prospective study discovers importance of the role of adverse childhood experiences, self-stigma, dissociation and comorbid personality disorder in effectiveness of combined cognitive-behavioural therapy and pharmacotherapy treatment in patients with treatment-resistant panic disorder.

• MeSH
• antidepresiva terapeutické užití   MeSH
• disociační poruchy komplikace   epidemiologie   terapie   MeSH
• dítě MeSH
• dospělí MeSH
• hospitalizace statistika a číselné údaje   MeSH
• kognitivně behaviorální terapie * MeSH
• kombinovaná terapie MeSH
• komorbidita MeSH
• léková rezistence * fyziologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• nepříznivé zkušenosti z dětství * statistika a číselné údaje   MeSH
• pacienti hospitalizovaní MeSH
• panická porucha diagnóza   epidemiologie   psychologie   terapie   MeSH
• poruchy osobnosti epidemiologie   terapie   MeSH
• sebepojetí MeSH
• společenské stigma MeSH
• stupeň závažnosti nemoci MeSH
• výsledek terapie MeSH
• vývoj dítěte fyziologie   MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• metaanalýza MeSH
• Názvy látek
• antidepresiva MeSH

UNLABELLED: Consumption of energy drinks has become popular and frequent among adolescents across Europe. Previous research showed that regular consumption of these drinks was associated with several health and behavioural problems. The aim of the present study was to determine the socio-demographic groups at risk for regular energy drink consumption and to explore the association of regular energy drinks consumption with health and behavioural problems and negative school experiences in adolescents. Data from the Health Behaviour in School-aged Children Study conducted in 2014 in Slovakia were analysed. We assessed socio-demographic characteristics, energy drink consumption, health and behavioural problems and negative school experiences based on self-reports from 8977 adolescents aged 11-15 years (mean age/standard deviation 13/1.33; 50.0% boys). The prevalence of regular energy drink consumption in the present sample was 20.6% (95%CI: 20%-21%). Regular energy drink consumption was more frequent among boys and older adolescents. Adolescents with a medium-level family affluence were less likely to drink energy drinks regularly. Adolescents who consumed energy drinks regularly had more health and behavioural problems and negative school experiences. CONCLUSION: Adolescents drinking energy drinks are at risk of a wide range of negative outcomes and should be specifically addressed by preventive interventions. What is Known • Energy drink consumption has become popular and frequent among adolescents across Europe. • There is growing evidence that energy drink consumption is related to negative social, emotional and health outcomes, but only a few studies have explored this relationship in adolescents. What is New • Regular energy drink consumption was more frequent among boys and adolescents reporting low family affluence and increased with age. • Adolescents reporting regular energy drink consumption were in higher risk to suffer from health and behavioural problems and negative school experiences.

• Klíčová slova
• Adolescents, Energy drinks, Health and behavioural problems, Negative school experience,
• MeSH
• chování mladistvých psychologie   MeSH
• duševní poruchy * etiologie   MeSH
• energetické nápoje škodlivé účinky   statistika a číselné údaje   MeSH
• lidé MeSH
• mladiství MeSH
• průřezové studie MeSH
• průzkumy a dotazníky MeSH
• riskování MeSH
• riziko MeSH
• školy MeSH
• zdraví dospívajících statistika a číselné údaje   MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Slovenská republika MeSH

BACKGROUND: Adverse childhood experiences (ACEs) and poor family support and communication can increase emotional and behavioural problems (EBP). Therefore, we assessed the association of difficult communication with mother and with father separately with both emotional and behavioural problems (EBP), and whether adolescents' communication with mother and with father moderates the association of adverse childhood experiences (ACE) with the EBP of adolescents. METHODS: We used data from the Health Behaviour in School-aged Children study conducted in 2018 in Slovakia, comprising 5202 adolescents aged from 11 to 15 (mean age 13.53; 49.3% boys). EBP were measured using the Strengths and Difficulties Questionnaire. We used generalized linear regression adjusted for age, gender and family affluence to explore the modification of the associations between ACE and EBP by communication (easy vs. difficult communication) with mother and father. RESULTS: Difficult communication or a complete lack of communication due to the absence of mother and father increased the probability of emotional (exp (b): 0.96, 95% CI: 0.92|1.00; and 0.95, 95% CI: 0.91|0.99, respectively) and also of behavioural problems (exp (b): 0.96, 95% CI: 0.92|1.00; and 0.94, 95% CI: 0.90|0.97, respectively). We found a statistically significant interaction of communication with father on the association of ACE with EBP, showing that the joint effects were less than multiplicative. CONCLUSION: Difficult communication with mother and father is related to EBP among adolescents, and adolescents' communication with father moderates the association of ACE with both emotional and behavioural problems among adolescents.

• Klíčová slova
• Adolescents, Adverse childhood experiences, Behavioural problems, Emotional problems, Family communication,
• MeSH
• chování mladistvých * MeSH
• dítě MeSH
• duševní poruchy etiologie   MeSH
• emoce * MeSH
• komunikace * MeSH
• lidé MeSH
• mladiství MeSH
• nepříznivé zkušenosti z dětství * psychologie   statistika a číselné údaje   MeSH
• otcové MeSH
• problémové chování * psychologie   MeSH
• rodiče * MeSH
• vztahy mezi rodiči a dětmi * MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Slovenská republika MeSH

AIM: The paper describes the characteristics of relationship obsessive-compulsive disorder (R-OCD), including the types of obsessions and compulsions, the common triggers and the impact on psychological well-being and relationship functioning. It also offers basic cognitive-behavioural strategies to help patients change their attitudes towards obsessive thoughts and reduce compulsive behaviours. METHODS: This article is a narrative review of the literature and case studies on R-OCD. To search for relevant sources, we used PubMed, PsycINFO and Web of Science databases with the keywords "relationship obsessive compulsive disorder", "R-OCD", "relationship OCD" and "partner-focused OCD". We included only studies published in English from January 1990 to June 2023. The paper provides examples of how basic cognitive-behavioural strategies help individuals with R-OCD. RESULTS: People with R-OCD experience intrusive thoughts about whether they have the right feelings for their partner, whether their partner loves them, whether the relationship is suitable or whether their partner has flaws. These thoughts trigger the urge to perform various rituals to alleviate anxiety, such as repeated checking, reassurance or comparison. However, this behaviour leads to disruption of the relationship and long-term maintenance of the anxiety. Examples of basic cognitive-behavioural strategies can be applied in clinical practice to help individuals change their attitudes towards relational obsessive thoughts and reduce compulsive behaviours.

• MeSH
• interpersonální vztahy MeSH
• kognitivně behaviorální terapie * metody   MeSH
• kompulzivní chování psychologie   terapie   MeSH
• lidé MeSH
• obsedantně kompulzivní porucha * psychologie   terapie   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

BACKGROUND: Childhood narcolepsy is associated with various emotional, behavioural and cognitive dysfunctions as well as with psychiatric and neurodevelopmental disorders: anxiety, depression, attention deficit hyperactivity disorder and psychosis. A relationship between these conditions is unclear - comorbidity or similar pathophysiological mechanisms can be suggested. OBJECTIVE: We reported four children with narcolepsy type 1 (NT1) and autism spectrum disorder (ASD) - Asperger syndrome (AS). RESULTS AND CONCLUSION: To the best of our knowledge co-occurrence of NT1 and AS has not been described in the literature as noted in this report.

• Klíčová slova
• Asperger syndrome, Autism spectrum disorders, Comorbidity, Hypocretin, Narcolepsy type 1,
• MeSH
• antidepresiva terapeutické užití   MeSH
• Aspergerův syndrom diagnóza   MeSH
• deprese diagnóza   farmakoterapie   MeSH
• dítě MeSH
• hyperkinetická porucha diagnóza   MeSH
• komorbidita * MeSH
• lidé MeSH
• methylfenidát aplikace a dávkování   MeSH
• narkolepsie komplikace   MeSH
• poruchy nadměrné spavosti diagnóza   farmakoterapie   MeSH
• stadia spánku fyziologie   MeSH
• tikové poruchy diagnóza   MeSH
• úzkostné poruchy diagnóza   farmakoterapie   MeSH
• věk při počátku nemoci * MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH
• Názvy látek
• antidepresiva MeSH
• methylfenidát MeSH