Categorization is one of the main processes representing human thinking. There is plenty of categorization study methods, but none use the same methodology to study categorization in different modalities. Notably, it is hard to compare results of such categorization directly due to the different category familiarity degree. For example, visual forms and number of visual stimuli are more familiar than number of syllables, plural or singular word form. However, it is possible to compare quality (type) of categorization errors in different modalities considering the relation to different cognitive processes.

To explore the categorization errors in visual and verbal modalities.

A special task inspired by Bruner concept formation study was used. 49 children with developmental learning disorder had to recognize common features in series of visual or verbal stimuli (5 series of 30 stimuli in each modality).

15 error types were identified in both visual and verbal modalities indicating the impairment of working memory, executive control, nominative processes, cognitive speed and categorization level.

Studying types of categorization errors may indicate the cognitive processes impairment and helps to clarify the relation between categorization and modality of input information.

None Declared

Among children with developmental disabilities, there is a group with consequences of neurotrauma that requires comprehensive support at different age stages, with the obligatory inclusion of the family in the rehabilitation process. These children are shown both medical and psychological and pedagogical rehabilitation, the effectiveness of which is determined by the active position of the patient’s relatives.

The study the factor of involvement of close patients with neurotrauma in the rehabilitation process: manifestations of psychophysical activity.

140 children with neurotrauma consequences with neuropsychiatric disorders (2021-2024) and 136 families. Medical and pedagogical method with observation, examination, diagnostic and typological assessment of children’s mental activity; cluster analysis of the results of studying families (parents) as participants in rehabilitation.

Clusters were identified based on the assessment of the activity of parents’ inclusion in the rehabilitation process:

Cluster 1. Active families (40%). The patient’s relatives follow all the instructions of the specialists, are an important and integral part of the rehabilitation team. Children from the families studied show both qualitative and quantitative gains in rehabilitation, predominantly in the socio-communicative and cognitive domains.

Cluster 2. Estranged families (60%). Adults formally relate to rehabilitation activities. In children from these families, the dynamics of recovery is limited to an insignificant increase in psychophysical activity indicators, without transition to a higher level.

The effectiveness of the rehabilitation process for severe neurotrauma in childhood is influenced by the involvement of adults close to the child. The personality traits of the parents, adaptability and resistance to stress, the severity of the child’s illness - these factors turn out to be decisive. Most loved ones need medical and psychological support. Regardless of the severity of neurotrauma in children, parents become more active if they note the dynamics in improving mental health. In case of long-term, severe illness of children accompanied by disability, family members only provide care and supervision.

None Declared

Hormone replacement therapy (HRT) for transgender men involves various formulations of testosterone, each exhibiting unique pharmacokinetic profiles and emotional impacts. A comprehensive understanding of these variations is crucial for optimizing treatment outcomes and managing side effects effectively.

This study aims to elucidate the differential emotional effects associated with various testosterone formulations used in HRT for transgender men.

A comprehensive literature review was conducted using databases such as PubMed, Scopus, and Web of Science. The review focused on four primary testosterone administration methods: intramuscular and subcutaneous injections, transdermal patches and gels, oral testosterone, and implantable pellets. Key metrics evaluated included pharmacokinetics, emotional effects, and nature of side effects.

The review identified distinct pharmacokinetic profiles and emotional responses associated with each testosterone formulation:

Intramuscular and Subcutaneous Injections: These methods showed peak testosterone levels within 24-48 hours, followed by a decline over one to two weeks. Emotional effects included mood elevation and increased energy during the peak phase, with potential irritability or anxiety. The trough phase was marked by mood swings and depressive symptoms, particularly before the next injection. Side effects such as acne and libido changes peaked shortly after injection and decreased before the subsequent dose.

Transdermal Patches and Gels: These methods maintained consistent blood testosterone levels, resulting in stable mood and emotional states with reduced mood swings. Initial therapy adaptation caused mild mood changes, and side effects were primarily localized to skin irritation at application sites.

Oral Testosterone: Testosterone undecanoate offered stable testosterone levels with consistent mood regulation. Gastrointestinal side effects were common, and emotional stability varied based on absorption rates and adherence to dosing schedules.

Implantable Pellets: These provided the most stable testosterone levels over several months, leading to very stable emotional states with minimal mood fluctuations. Side effects included localized reactions such as discomfort or infection at the implantation site, with minimal systemic side effects.

The choice of testosterone formulation significantly impacts the emotional well-being of transgender men undergoing HRT. Intramuscular and subcutaneous injections were associated with emotional fluctuations tied to hormone peaks and troughs, while transdermal, oral, and implantable methods provided more stable hormone levels and emotional states. Regular monitoring and individualized modifications are crucial to optimizing physiological and emotional outcomes and enhancing the quality of life for transgender men.

None Declared

Delirium, as described in the DSM-V, is a disruption in attention and consciousness that develops over a brief period, representing an acute change from baseline awareness. First-generation antipsychotics, such as haloperidol, are often advised as the first line of pharmacological treatment. In comparison to haloperidol, olanzapine appears to be more beneficial in terms of efficacy and safety, according to a 2016 systematic review and meta-analysis of randomized clinical studies. However, most of the research included were single-center investigations with tiny sample numbers, diverse study demographics, and bias potential.

The aim of this systematic review was to identify the current best evidence on the effectiveness of olanzapine versus haloperidol in various clinical settings to guide best practices for healthcare professionals. Also, this literature review seeks to provide a up-to-date synthesis of the current evidence on this subject.

We conducted a systematic search of four databases (PubMed, PsycINFO, CINAHL, and Cochrane Central) from inception through January 31st, 2024, using keywords related to delirium (acute confusion, confusion state, confusional state), olanzapine, and haloperidol. The search was limited to randomized controlled trials comparing olanzapine with haloperidol, without restrictions on dose, route of administration, or drug exposures. When analyzing outcomes with a robust number of studies, we applied a random-effects model. For outcomes with fewer studies, we used a fixed-effects model. Additionally, we conducted sensivity and subgroup analyses. All statistical evaluations were performed using the RevMan software.

Seven studies met our inclusion criteria. Haloperidol was associated with a significantly lower severity of delirium after 2-3 days of treatment compared to olanzapine, with a small effect size (g = 0.40, 95% CI [0.02; 0.78], p = 0.04) based on three studies (n = 110). However, no significant difference was observed after 4-7 days (g = 0.09, 95% CI [-0.26; 0.44], p = 0.61) across five studies (n = 306). There was no significant difference in overall side effect rates between haloperidol and olanzapine (p = 0.29, 7 studies, n = 530), but haloperidol resulted in significantly more extrapyramidal side effects (p = 0.008). Sedation as an adverse effect did not differ significantly between the two drugs (p = 0.54, 4 studies, n = 284).

Haloperidol may offer superior short-term efficacy in reducing delirium severity but is associated with a higher risk of extrapyramidal symptoms. No significant differences were found in long-term efficacy or sedation rates between olanzapine and haloperidol. These findings support the need for careful consideration of drug safety profiles in the treatment of delirium.

None Declared

While clincial practice guidelines are an effective means of improving healthcare, they are not always adequately implemented. A recent study of the German S3 guideline for schizophrenia (version 2019) revealed low rates of adherence among medical professionals (Khorikian-Ghazari et al. Eur Arch Psychiatry Clin Neurosci 2023, 1-12). The factors impeding adherence are numerous and encompass individual, contextual, and guideline-related elements. The present study (Halms et al. 2024 BMC Medicine 2024, 22(1) 311) examines the efficacy of a digital guideline version in comparison to print/PDF formats with respect to guideline knowledge.

The primary aim of this study was to assess whether healthcare professionals using a digital version of the schizophrenia guideline achieved greater knowledge gains than those using traditional print or PDF formats. Secondary objectives included examining the usability of the formats, shared decision-making capabilities, and confidence in clinical decision-making.

A multicenter, cluster-randomized study was conducted in psychiatric hospitals in South Bavaria, Germany. Medical and psychological staff were divided into two groups: Implementation of the guideline via the digital MAGICapp platform or the conventional print/PDF version. The study comprised a baseline assessment (T0) and a post-intervention assessment (T1) after a six-month implementation phase. The primary outcome measure was guideline knowledge, measured by knowledge questions about the contents of the German S3 guideline for schizophrenia.

A total of 217 subjects participated at the initial assessment (T0), while 120 subjects completed the follow-up assessment (T1). Both groups demonstrated notable gains in knowledge, yet no significant differences were observed between the two groups. At T0, 43.6% of the control group and 52.5% of the intervention group met the specified criterion. With regard to the primary outcome (≥ 30 of 46 knowledge questions and all five cardinal questions answered correctly), no significant difference was found at either T0 or T1 (T0: Chi²(1) = 1.65, p = 0.199, T1: Chi²(1) = 0.34, p = 0.561). Following the intervention, 58.2% of the control group and 63.5% of the intervention group met the primary outcome.

Overall, a significant improvement in guideline knowledge was demonstrated throughout the implementation process. The digital guideline version did not demonstrate superiority in knowledge gain, but it did show potential advantages in shared decision-making. The results may have been influenced by familiarity with conventional formats and barriers to implementing digital applications. The study highlights the importance of needs-based, structured implementation strategies, particularly for younger practitioners with less professional experience.

T. Halms: None Declared, G. Gaigl: None Declared, C. Lorenz: None Declared, D. Güler: None Declared, N. Khorikian-Ghazari: None Declared, A. Röh: None Declared, S. Leucht Consultant of: S.L. has received honoraria for advising/consulting and/or for lectures and/or for educational material from Angelini, Boehringer Ingelheim, Eisai, Ekademia, GedeonRichter, Janssen, Karuna, Kynexis, Lundbeck, Medichem, Medscape, Mitsubishi, Neurotorium, Otsuka, NovoNordisk, Recordati, Rovi, Teva., A. Hasan Grant / Research support from: This research project is part of the G-BA (Gemeinsamer Bundesausschuss) funded project SISYPHOS—Strukturierte Implementierung digitaler, systematisch aktualisierter Leitlinienempfehlungen zur optimierten Therapeutenadhärenz bei Schizophrenie, funding reference number 01VSF20024. Work on the manuscript was also supported by the German Center of Mental Health (grant number: 01EE2303C)., Consultant of: A.H. was a member of advisory boards and received paid speakership by Boehringer-Ingelheim, Lundbeck, Otsuka, Rovi, and Recordati. He received paid speakership by AbbVie and Advanz. He is editor of the AWMF German guidelines for schizophrenia.

The risk of self-harm is highest in younger age groups, with increasing numbers of under-18s being admitted to hospital due to self-harm in recent years in the UK1,2. The National Institute for Health and Care Excellence (NICE) guidelines for self-harm in adolescents over eight was updated in September 2022 and reinforces the need for the proper initial management of adolescent self-harm3. To our knowledge, our study is the first UK national audit on the management of self-harm in adolescents presenting to the emergency department using the updated NICE guidelines.

To assess the clinical management of children and adolescents who present to the Emergency Department (ED) following self-harm, a cross-sectional, multicentre study was conducted within teaching hospitals affiliated with nine medical schools across England, Wales and Scotland.

Data was retrospectively collected from ED records using consecutive sampling of individuals aged 8 to 17 years who presented with self-harm from 7 Sep-7 Nov 2022.

Records from 328 patients were included in the final analysis. Most patients were female (82.0%) and white (68.2%), with a mean age of presentation of 14.7 (σ = 1.58). The rate of positive responses to each question is available in Table 1. A ‘positive’ response is defined as a ‘yes’ response, rather than ‘no’ or ‘not documented’.

Table 1.

Rate of compliance with audit criteria

This is the first study, to our knowledge, that investigates the management of self-harm in under 18s across the UK using the updated NICE guidelines. Some criteria may have been adhered to but not documented. The results from this study provide support for the further improvement of clinical practice in the management of self-harming children and adolescents.

None Declared

Discrepancies often arise between experts and non-experts regarding their roles in making end-of-life (EOL) decisions within the Intensive Care Unit (ICU). Such decisions are frequently contentious in clinical settings, with wide-ranging consequences in legal, ethical, psychological, social, and clinical contexts.

The aim of this study was to systematically review the global perspectives of physicians, nurses, family members, and the general public on who “should” be involved in decision-making for adult ICU patients, as well as to identify potential influencing factors.

Adhering to the PRISMA 2020 guidelines, a comprehensive literature search was performed across PubMed, EMBASE, and CINAHL databases. A data extraction table was developed, validated through discussion and implemented by two independent researchers. The extracted data were subsequently analyzed descriptively.

Thirty-three studies were included, documenting variations in findings across different geographical and temporal contexts. Most participants in these studies were healthcare professionals. Despite evidence of paternalistic tendencies, physicians generally showed a growing inclination toward a more collaborative decision-making model. Similarly, the views of other population groups leaned towards patient and family involvement, with nurses additionally supporting their own participation. Six categories of influencing factors were identified, with legal/regulatory considerations and participant demographics emerging as the most significant.

The overall representation of participants’ perceptions highlights a broader tendency towards collaborative decision-making. Τhis requires coordinated efforts from both clinical practitioners and policymakers to establish a decision-making framework that is inclusive, context-sensitive, and adaptable to the legal and cultural specifics of each region. To this end, emphasis should be placed on national-level interventions that address these issues directly, as opposed to broader, supranational approaches that may lack the necessary nuance.

None Declared

The professional activity of doctors is often associated with conflict situations, so it is important for them to obtain conflict-free communication skills during their education. These skills can be formed during a new academic course in curriculum. In this paper, we describe the prerequisites of the course “Conflict-free communication skills” on the sample of teaching pediatrics students at the Sechenov University.

To clarify the possibility and expediency integration of a new course into the curriculum of medical students.

The primary method employed is bibliographic analysis.

The main purpose of a new course is the formation of universal, general professional and professional competencies in verbal and nonverbal communication for medical students. It is necessary for medical students to acquire the basic principles of communication psychology and the formation of conflict-free communication skills. In the process of organizing education for future medical staff, it is important to start from the basic concept of communication, not from the basic concept of conflicts. From our point of view, the concepts of effective communication and conflict-free communication are interrelated. To make this course more practical, classes should be held in the format of business games, case studies, and social-psychological training.

We have identified the following sections of the discipline:

The phenomenon of communication;

Business communication and its types;

Psychological boundaries and their violations;

Empathy in the work of a doctor;

Teamwork and collaboration.

The integration of a new course into the curriculum of medical students will allow us to develop conflict-free communication skills and teamwork, thereby simplifying business communication in the medical field.

None Declared

Psychiatric patients, particularly those with severe mental illness, face an elevated risk of cardiovascular disease. This heightened risk stems from a combination of factors, including the effects of antipsychotic medications, unhealthy lifestyles, and socioeconomic disadvantages. Addressing cardiovascular risk in this population requires tailored approaches that consider both medical and mental health aspects. Traditional cardiovascular risk prediction models, such as SCORE2, often fail to accurately assess cardiovascular risk in psychiatric patients.

This non-systematic review aims to evaluate the evidence behind the use of cardiovascular risk prediction models in patients with mental illness, assessing their applicability and limitations.

Relevant and recent studies or reviews were selected from the PubMed electronic database using search terms related to cardiovascular risk prediction and mental illness. Articles were chosen based on their relevance to psychiatric populations and their focus on prediction models.

Recent cardiovascular risk prediction models, such as PRIMROSE and QRISK3, incorporate factors like the presence of severe mental illness, antipsychotic and antidepressant use, and lifestyle factors (smoking and alcohol consumption). These models are more effective than general population models in predicting cardiovascular events in psychiatric patients. Interventions based on these models, particularly pharmacological strategies such as the use of statins and metformin, have been effective in managing lipid levels and reducing cardiovascular risk in this population.

Psychiatric patients are at a significantly increased risk of cardiovascular disease, warranting early intervention and consistent monitoring. Tailored risk assessment models can significantly improve cardiovascular outcomes by guidind pharmacological intervention. Further studies are needed to improve and validate the available prediction models.

None Declared

Huntington’s Disease (HD) is a serious inherited neurodegenerative disorder characterized by a progressive decline in motor and cognitive functions, along with neuropsychiatric symptoms. The pathophysiology involves extended CAG repeats in the huntingtin (HTT) gene, leading to the toxic accumulation of protein aggregates and subsequent neurodegeneration. Current treatments for HD solely provide symptomatic relief and are merely adjunctive, with no effect on disease progression. Novel gene editing technologies, such as CRISPR on the other hand, directly target mutant huntingtin at either the DNA or RNA level, and may potentially delay or halt the progression of HD through their disease-modifying effects.

This review is aimed at critically evaluating the recent advances in gene therapy and symptomatic treatment approaches, focussing on both current treatments as well as first-generation human and preclinical studies targeting HD. The review also seeks to assess the rationale for these studies, the mechanisms of action involved, and their broader implications for clinical practice and patient care.

A systematic review of the recent literature on drug-based and non-drug-based HD treatment approaches, including symptomatic and advanced gene-editing strategies, was conducted. Data pooling was carried out with random-effects models to provide calculated standardized mean differences (SMDs) and 95% confidence intervals (CIs). The review included a comprehensive investigation of strategies such as CRISPR-Cas9, prime editing, antisense oligonucleotides, and RNA interference, yielding promising data with prudent clinical utility.

Eighteen studies with a total of 2,152 participants were analyzed. A significant reduction in motor manifestations compared to controls was recorded with Tetrabenazine and Deutetrabenazine use, with an SMD of -0.65 (p < 0.001). Antidepressant supplementation showed promising effects on psychiatric symptoms, achieving an SMD of -0.70 (p < 0.001). Non-drug-related treatments moderately improved participants’ quality of life, as illustrated by an SMD of 0.58 (p < 0.001). In gene therapy-related interventions, CRISPR-Cas9 and prime editing approaches showcased a significant reduction in the levels of mutant huntingtin protein, with a mean of -1.25 (p < 0.001). Additionally, antisense oligonucleotides provided encouraging results, eliciting a dose-dependent reduction in RNA levels, with a mean of -0.85 (p < 0.001).

Combining innovative symptomatic treatments with novel gene-editing technology marks a potential paradigm shift in managing Huntington’s Disease. While symptomatic therapies are paramount to ensure optimal patient comfort, recent advances in gene therapy research hold tremendous potential in modifying and curbing disease progression.

None Declared

Anorexia nervosa (AN) is a complex mental disorder characterized by a voluntary food restriction and excessive physical activity resulting in dramatic weight loss. Neurotrophins are growth factors that play s role in the proliferation, survival and differentiation of cells in the brain. Alterations in neurotrophin factors, including the brain-derived neurotrophic factor (BDNF), have been found in patients wuth AN. Variants of genes encoding various neurotrophins and their receptors have been associated with eating disorders or with disease outcome or prognosis compared with controls. In animal, BDNF negatively modulates the central control of food intake and its injection into rodents induces weight loss and anorexia. Its receptor, the p75 neurotrophin receptor was also able to regulate the energy balance, as observed in mice lacking the p75NTR, which decreased their feeding. Thus, several neurotrophins and their receptor may have a metabolic effect, making them good candidates for biomarkers in AN for diagnostic and prognostic purposes.

Our work measured the levels of expression of neurotrophins and their receptors in specific brain areas, taking advantage of the mouse AN-like model in food-restricted and refeed animals.

The AN-like model combining a chronic food restriction (50%) for 15 days followed by an ad libitum refeeding period of one week was used. Female mice have access to a running wheel to create a metabolic environment similar to that of patients suffering from AN during restriction and recovery after hospitalization. The mRNA levels of Bdnf, TrkB, Ngf, NtF3 and Ntf5 were measured in brain regions (prefrontal cortex, hippocampus, hypothalamus and dorsal striatum) using quantitative PCR in the different groups of mice (ad libitum, ad libitum with wheel, food restriction and food restriction with wheel). Statistical analysis will compare levels using one-way or two-way ANOVAs depending on the animal group or brain region.

A significant decrease of the expression of Bdnf, Ngf and Ntf5 genes was observed between ad libitum and food restriction groups in the dorsal striatum. The transcript level for Bdnf was also decreased in the prefrontal cortex in the food restriction groups compared to the ad libitum groups. In contrast, TrkB transcript was increased in in food restriction groups compared to ad libitum groups, in the prefrontal cortex. We expect significant differences in gene expression in the other brain regions of interest for the food restricted animals compared to the ad libitum animals. The levels of neurotrophic genes are ongoing for the refeeding animals.

Neurotrophins could represent potential biomarkers of AN for the diagnosis and prognosis in the evolution to weight recovery and will thus allow a better understanding of the aetiology of AN.

This work was supported by Fédération Recherche sur le Cerveau.

None Declared

A heightened susceptibility to mood disorders among women at specific junctures throughout their reproductive lifetime has been reported. Previous studies have suggested that the probability of developing Major Depressive Disorder (MDD) during the menopausal transition is amplified from 2 to 4 times when contrasted with both premenopausal and postmenopausal periods and also increased mood symptom severity in the menopausal transition in bipolar disorder (BD) has been cited (Chen et al. Arch Womens Ment Health 2017; 20 463-8). A considerable body of evidence suggests that mitochondrial dysfunction plays a crucial role in the pathophysiology of various psychiatric disorders, including MDD and BD. Researchers have proposed that the mitochondrial DNA copy number (mtDNAcn) may serve as an essential marker of mitochondrial health, which is the ratio of mitochondrial and nuclear DNA (Malik et al. Mitochondrion 2013; 13 481-92).

In this review, we aimed to compile and present existing data regarding mtDNAcn alterations in women during the menopausal transition by comparing the mtDNAcn numbers of the women in premenopausal, perimenopausal and postmenopausal periods thereby establishing a foundation for future research on the origins of these conditions.

A literature search was conducted on the electronic databases PubMed, Cochrane Library, Medline (OVID), Scopus, Web of Science and CINAHL to identify the relevant studies published until 14 October 2024. The search was performed using the following keywords (Menopause OR Premenopause OR Pre-Menopause OR Premenopaus* OR Perimenopause OR Postmenopause OR Post-Menopause OR Postmenopaus*) AND (mitochondrial DNA copy number OR mtDNA copy number) and limited to English language.

According to the search results, 66 publications were reached in total. After detecting and removing duplicate publications, there were 21 publications left. After screening, any of the studies met inclusion criteria for the systematic review, because most of them were conducted in different patient groups and healthy controls in the menopausal transition periods, but the main findings of these studies can be summarized as; mtDNAcn varies between the patients groups and healthy controls in the menopausal transition periods with the conflicting results. Some of the studies found higher mtDNAcn in patient groups such as breast cancer and pelvic organ prolapsus, whereas some of them found lower mtDNAcn numbers in patient groups such as osteopenia and osteoporosis.

Considering above findings, there is mtDNAcn alterations in women during the menopausal transition. These findings may highlight the need for future studies to elucidate the link with mtDNAcn and mood disorders in the menopausal transition period by comparing the women in different menopausal periods.

None Declared

Depressive disorders are one of the most disabling mental illnesses with a significant impact on society. In Romania the mean annual total costs per depression patient are EUR 5553, a much higher figure than the mean annual total costs per patient ranged worldwide.

Even though their roles in depression have not been elucidated, a plethora of potential biomarkers in multiple body fluids for the early diagnosis of depression has been suggested. Blood circulating microRNAs (miRNAs) are potential biomarkers for several human diseases, including psychiatric disorders. Different studies have shown that micro RNAs are involved in a series of pathophysiological processes and could be useful markers for diagnosis and prognosis of depression.

This preliminary case-control study was designed to identify putative blood circulating miRNAs associated with the diagnosis of depression in Romanian patients.

In this study, 20 patients with depression and 24 non-depressed controls were enrolled. All the individuals have been interviewed and screened using the following scales: the Hamilton Anxiety Scale (HAM-A), the Becks Depression Inventory (BDI) and the Perceived Stress Scale (PSS). The expression of 179 miRNAs in plasma have been evaluated by qRT- PCR. The difference in the expression of miRNAs between the two groups, as well as the correlations with the scores of the scales have been analyzed.

A panel of 28 miRNAs was identified as differentially expressed between patients and controls. Only miRNAs showing a -2>FC>2.0 and p<0.05 have been considered significant. Seven miRNAs (miR-143-3p, miR-331-3p, let-7f-5, miR-502-3p, miR-145-5p, miR-7-1-3p, miR- 29a-3p) were found up-regulated in the depression group, while 21 miRNAs (miR-885-5p, miR- 425-3p, miR-32-5p, miR-23b-3p, miR-590-5p, miR-30a-5p, miR-132-3p, miR-376a-3p, miR-223-5p, miR-133b, miR-142-5p, miR-92b-3p, miR-140-3p, miR-16-2-3p, miR-28-3p, miR-27a-3p, miR-15b-3p, miR-106b-3p, miR-877-5p, miR-30e-3p, miR-140-5p) showed a down-regulation in the group of patients compared to the controls. Some of the significant correlations between miRNA expression and the scale scores are reported: a positive correlation between let-7f-5 and miR-7-1-3p with the BDI score (p=0.003 r=0.526, and p=0.008 r=0.477, respectively) and a negative correlation between miR-425-3p with BDI (p=0.002 r=-0.502) were found.

The results reported in this communication represent preliminary findings. Due to the nature and heterogeneity of depression, the number of patients and controls in the two cohorts will be enlarged to correlate these miRNAs with other patient features.

None Declared

Bisphenol A (BPA), a widely used chemical in the manufacturing of plastics and resins found in everyday consumer products such as water bottles and food containers, is known to interfere with the body’s endocrine system. Specifically, BPA acts as a xenoestrogen, meaning it can mimic the hormone estrogen by binding to estrogen receptors (ERs) in the body. This interaction raises concerns about BPA’s potential impact on brain regions with high densities of these receptors, including the hippocampus and prefrontal cortex, which are critical for mood and cognitive functions. Estrogen plays a vital role in regulating serotonin, a neurotransmitter essential for mood stability. This review synthesizes existing literature on how BPA may disrupt serotonin regulation and its implications for mood disorders.

To evaluate the mechanisms by which BPA interacts with estrogen receptors and serotonin in the brain with a key focus on its implications for mood disorders such as depression and anxiety.

A narrative literature review was conducted, gathering findings from relevant studies published over the past two decades. Sources were identified through database searches in PubMed, PsycINFO, and Google Scholar using keywords such as “BPA,” “serotonin,” “estrogen receptors,” “hippocampus,” “prefrontal cortex,” and “mood disorders.” The review focused on various types of studies that examine BPA’s interaction with estrogen receptors and its effects on serotonin regulation allowing for the creation of an up-to-date integrative summary.

The review reveals that BPA’s interaction with estrogen receptors in the brain can lead to significant disruptions in serotonin regulation. BPA competes with endogenous estrogen for ER binding leading to altered serotonin synthesis and release. BPA exposure is associated with reduced expression of tryptophan hydroxylase, the enzyme critical for serotonin production, potentially lowering serotonin levels. BPA’s interference with ERs impairs serotonin release from presynaptic neurons, particularly in the hippocampus and prefrontal cortex, which are vital for mood regulation.

The literature strongly suggests that BPA disrupts normal estrogenic regulation of serotonin, with significant implications for mood disorders such as depression and anxiety. The hippocampus and prefrontal cortex appear particularly vulnerable to these disruptions, which could theoretically exacerbate symptoms of mood dysregulation highlighting the importance of considering environmental factors like BPA in the treatment of mood disorders. Given the widespread exposure to BPA, these findings underscore the need for further research into its long-term effects on mental health and potential regulatory measures to mitigate exposure.

None Declared

Several studies have discovered associations between depression and cardiovascular disease risk factors and patients with Coronary Artery Disease with comorbid Depression have worse prognosis. There is growing evidence of polygenic overlap between depression, Coronary Artery Disease and other Cardiovascular risk factors and may suggest molecular mechanisms underlying the association between depression and raised cardiovascular disease risk.

Depression and cardiometabolic disorders are both heritable and both are caused by a mix of genetic and environmental factors. Genetic factors contribute to 31–42 % in MDD (Sullivan et al. 2000 ), 30–60 % in coronary artery diseases (Marenberg et al. 1994 ), 26–69 % in type 2 diabetes (Almgren et al. 2011 ; Poulsen et al. 1999 ), 24–37 % in blood pressure (hypertension) (Van Rijn et al. 2007 ), 35–48 % in heart rate variability (Kupper et al. 2004 ), 40–70 % in obesity (body mass index) (Willyard 2014 ), and 58–66 % in the level of serum lipids (Knoblauch et al. 1997 ). Moreover, there are fairly high genetic co-heritabilities (genetic correlations) between depression and the different cardiometabolic disorders suggesting the influence of pleiotropic genes and shared biological pathways within them.

Literature search was conducted and appropriate material was then extracted to examine the hypothesis.

Identification of shared molecular pathways supports a growing evidence base for cross-diagnostic treatment. Besides, further exploration of overlapping molecular pathophysiology can unveil novel targets for drug development and repurposing of existing medications. Also, cardiometabolic disorders can increase the risk of poor response to standard treatments in mood disorders. Lastly, studying shared pathways of depression and somatic disorders can untangle the clinical and genetic heterogeneity that underlies in these illnesses.

Genetic studies have suggested the involvement of pleiotropic genes in the comorbidity between depression and cardiometabolic disorders. While our abstract attempts to provide some insight into the common mechanisms and role of pleiotropic genes, in-depth understanding of how these genes mediate the association between depression and cardiometabolic diseases requires future larger scale comprehensive cross-disorder research. This will enable us to better understand why patients suffer from multiple diseases at a time and how multi-morbidities influence pharmacological treatment response to diseases.

None Declared

SLC6A1 is a GABA transporter which, being expressed in neurons and glial cells, removes GABA from extracellular space, preventing the spread of the inhibitory transmission within the brain. Recently, A93T, R211C, and W495L de novo mutations in SLC6A1 have been demonstrated to be involved in schizophrenia pathogenesis. However, the mechanism of action of SLC6A1 in schizophrenia is still to be determined.

To establish a series of SH-SY5Y-based cell lines expressing wt SLC6A1 and its forms with single A93T, R211C or W495L mutations and their combinations, and to further characterize the properties and the subcellular localization of the resulting proteins.

The chosen variants of SLC6A1 tagged with N-terminal FLAG were cloned into a lentiviral plasmid under the TRE promoter and used for transfection of HEK293T with further SH-SY5Y transduction. SLC6A1 expression was initiated by adding 20 μg/mL of doxycycline to the cells. After 48 hours of treatment the cells were either used for qPCR and Western blot analysis, or stained.

All cell lines expressed SLC6A1 forms efficiently. SLC6A1 with single mutations, SLC6A1R211C;W495L, and SLC6A1A93T; R211C;W495L were present by the same ≈67kDa form as wt SLC6A1, while SLC6A1A93T;R211C resulted in an additional band at ≈130kDa, indicating either the presence of PTM, or the formation of a homodimer. SLC6A1A93T;W495L gave no protein product, probably, due to its proteolytic degradation. Interestingly, wt SLC6A1, SLC6A1R211C, and SLC6A1A93T;R211C were detected in neurites, while SLC6A1A93T, SLC6A1W495L, SLC6A1R211C;W495L, and SLC6A1A93T;R211C;W495L were mainly found in cytoplasm, which might indicate that these mutations might affect the function of the protein.

Having established a series of SH-SY5Y-based cell lines expressing SLC6A1 with schizophrenia-associated mutations, we demonstrated the effect of the latter on the protein’s subcellular localization. Based on our observations, we speculate that R211C has the mildest effect on the localization and function of SLC6A1 and can even partially compensate that of A93T, but not W495L. We also suggest that SLC6A1 with the A93T;W495L combination undergoes proteolytic degradation, most likely, due to the defects in its structure.

None Declared

Schizotypy is seen as subclinical part of the psychosis liability continuum. While several studies have attempted to confirm the relationship between schizotypal traits and genetic predisposition to schizophrenia using polygenic risk scores (SZ-PRS), the association of SZ-PRS with other features of schizotypal individuals resembling schizophrenia symptoms remains unexplored.

This study aimed to assess the contribution of SZ-PRS and PRS for other relevant traits to cognitive functioning in schizotypy.

Healthy subjects (n=1468) were divided into low, negative, positive, and high mixed schizotypy groups based on a cluster analysis of the Schizotypal Personality Questionnaire data. Of them, 247 individuals had genome-wide information and completed a comprehensive cognitive battery, from which a cognitive index (CogI) was derived. PRS for schizophrenia, bipolar disorder, educational attainment, intelligence (IQ), neuroticism, and risk-taking were calculated with LDpred2-auto tool. The association of the CogI with PRSs was examined with stepwise multiple linear regression controlling for age and two ancestry-related principal components.

The groups differed in the CogI (p=0.015). The high schizotypy individuals (n=49) had a lower CogI than the low (n=73, p=0.01), negative (n=54, p=0.08), and positive (n=64, p=0.09) ones. SZ-PRS (β=-0.16, p=0.012) and IQ-PRS (β=0.13, p=0.014) predicted CogI in low schizotypy; IQ-PRS (β=0.42, p<0.001) in negative schizotypy; risk-taking PRS (β=-0.27, p<0.001) in positive schizotypy; and none of the PRSs predicted cognition in high schizotypy.

We did not find traits whose PRS might explain the lower cognitive performance in high schizotypy. Thus, nongenetic factors deserve more attention in future research.

None Declared

Neurohormone oxytocin plays an important role in the pathogenesis of mental illness, and also moderates the relationship between stress factors, especially those acting in the early stages of development, and the development of mental disorders. Literature data indicate that environmental risk factors significantly increase the risk of schizophrenia and the severity of its clinical presentation.

To study the association between the oxytocin receptor (OXTR) rs468302 and rs7632287 polymorphisms and negative symptoms of schizophrenia, taking into childhood adversity (CA), i.e. events that could adversely affect the psychoemotional state and development of the child in the period up to 18 years. CA includes abuse in the family, alcohol or drug addiction in parents, mental disorders.

The study included 592 patients with schizophrenia (items F20. according to ICD-10). Information about the presence of CA was obtained from case histories and patient interviews. Analysis of covariance was used for statistical data processing; in post-hoc pairwise comparison, Tukey’s test was used.

A significant effect of the interaction between CA and OXTR gene polymorphism rs7632287(G\A) on the severity of negative symptoms in patients with schizophrenia was revealed. For rs4686302 (C\T) polymorphism the association was found at the trend level. In patients without CA, polymorphisms did not have a significant effect.

The OXTR rs468302 and rs7632287 polymorphisms, previously associated with phenotypes related to social behavior, may be associated with negative symptoms of schizophrenia, and the association is mediated by the presence of a history of psychotraumatic events acting at an early stage of development.

None Declared

Schizophrenia is a severe psychiatric disease caused by genetic and environmental factors or their interactions that can contribute across multiple disease domains, including negative symptoms (NS), a core feature of schizophrenia.

To study the association between season of birth (SOB), a well-replicated risk factor for schizophrenia, and NS domains avolition/apathy (AA) and diminished expression (DE) and to search for an interaction effect of SOB and rs2794521 genetic variants of the inflammatory marker C-reactive protein (CRP) on these domains.

The study included 2475 patients with schizophrenia. Patients born during the months of December to February were considered to be winter-born (n=636) and patients born in other months were considered to be non-winter-born (n=1839). Genotypes for CRP rs2794521 were obtained for 2437 patients. NS factors were calculated based on the Positive and Negative Syndromes Scale.

There was a significant effect of SOB on AA scores (p=0.009), which remained after adjustment for sex and illness duration. Patients born in winter had higher scores compared with those born in other seasons. No significant effect of SOB on DE scores was observed. An association between the CRP rs2794521 G-allele and AA scores was found (p=0.044) in the winter-born group, with the carriers of the G-allele having higher scores. There was no effect of the G allele on DE scores in this group and on AA or DE scores in the non-winter group.

The results provide new evidence about the effect of SOB and SOB/CRP gene interaction on schizophrenia NS domains.

None Declared

Technological advancements have identified numerous genetic variations linked to mental disorders, providing potential explanations and, in some cases, enabling targeted treatments. However, clinical genetic testing remains underutilised in psychiatric care, potentially due to inconsistent clinical guidelines across Europe.

This scoping review aims to compile, summarise and evaluate European clinical practice guidelines (CPGs) on genetic testing in mental disorders, identifying gaps and variations in recommendations to inform current practice and future guideline development.

A scoping review was conducted across scientific databases (PubMed/MEDLINE and Ovid) and grey literature sources (Image 1. Flow diagram). Inclusion criteria centred on European CPGs published in English from 2010 onward with specific recommendations on genetic testing in mental disorders. Quality assessment was performed using the International Centre for Allied Health Evidence (iCAHE) checklist. Data extraction focused on guideline characteristics, target populations, and genetic test recommendations.

Sixteen CPGs met the inclusion criteria, displaying considerable heterogeneity in quality and content, and covering a limited range of mental disorders. Six guidelines addressed neurodevelopmental disorders. Most recommended genetic testing in Autism Spectrum Disorder (ASD) when indicators such as intellectual disability (ID) or dysmorphic features were present; however, one guideline recommended routine testing. Only one guideline included recommendations for genetic testing in ID; routine access to Fragile X testing, chromosomal microarray, and whole genome sequencing was recommended as standard care.

Eleven guidelines provided recommendations on genetic testing in neurodegenerative disorders. In dementia, consensus on routine testing was generally limited to young-onset cases or those with distinct genetic profiles. APOE genotyping was generally discouraged. Guidelines for diagnostic testing for Huntington’s Disease (HD) were consistent. Access to predictive testing with appropriate genetic counselling for at-risk adults was also recommended.

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Based on our findings and the wider literature, we recommend considering genetic testing for: 1) all patients with ID, 2) patients with ASD exhibiting features suggestive of a genetic cause, such as ID and dysmorphic traits, and 3) patients with dementia with a young age of onset or a family history indicative of a Mendelian disorder. For HD, testing should be informed by phenotypic features and family history. Establishing harmonised, evidence-based guidelines is essential to integrate testing effectively. Key considerations include clinical utility, patient autonomy, and access to genetic counselling to ensure informed and supportive care.

None Declared