Assessment of the risks and benefits of genetic and genomic tests has long been addressed using ad hoc evaluation methods. They are mostly ACCE-based, focus on technical aspects, and often overlook economic and organizational considerations. The few health technology assessment (HTA) based approaches, though more comprehensive, lack validation and implementation. This review’s purpose was to identify evaluation frameworks for genetic and genomic tests and to synthesize their key aspects.

PubMed, Scopus, Web of Science, Google Scholar, and Google Search were used to identify records describing any assessment framework for genetic or genomic tests. As this was an update of a previous systematic review, the search was restricted to records published from 1 October 2020. Inclusion criteria were documents describing evaluation frameworks for genetic or genomic tests that were original, specifically created, and covered at least three evaluation components (analytic validity, clinical validity, clinical utility, economic aspects, or ethical, legal, and social implications). This study was supported by the European Commission and the Ministry for Universities and Research under the National Recovery and Resilience Plan (M4C2-I1.3 Project PE_00000019 “HEAL ITALIA”).

Overall, 22,862 records were retrieved and 12,546 unique records were screened, of which 67 documents were assessed for eligibility. However, none of these met the inclusion criteria and no additional framework was found. In contrast, a total of 37 studies reporting 30 different frameworks were included from the previous systematic review. The analysis of these frameworks revealed that they were published between 2000 and 2019 and were mostly based on the ACCE model (n=13), on the HTA process (n=6), or both (n=3). Others referred to the Wilson and Jungner screening criteria (n=3) or to a mixture of different criteria (n=5).

A pressing need exists for a universally accepted evaluation framework for genetic and genomic tests. A shift from ad hoc assessments to a general HTA methodology, potentially based on the EUnetHTA Core Model®, is needed. By integrating solid theoretical and methodological principles, a validated, comprehensive, and widely shared tool for evaluating genetic tests can be realized, promoting consistency across Europe and beyond.

Frameworks based on the ACCE model, which have a limited health technology assessment (HTA) approach, have long been used in the assessment of genetic and genomic applications (GGAs). While ACCE frameworks are mainly focused on technical aspects, HTA assessments include economic and organizational aspects. The aim of this study was to develop a framework able to address a comprehensive assessment of GGAs.

We analyzed the most currently used HTA model in Europe, the EUnetHTA HTA Core Model®, to investigate its suitability as an HTA framework for GGAs and to identify any possible shortcomings in its evaluation. The Sapienza evaluation framework, which is based on a previous systematic review of assessment frameworks for GGAs, was used as the comparison. The HTA Core Model applications were then used as a basis for an assessment framework for GGAs, classified according to “GGA function/use setting” pairs.

The domains included in the Sapienza framework fully corresponded with the HTA Core Model. In addition, the “Screening Technology” application of the HTA Core Model was found to be suitable for diagnostic, pre-symptomatic, predictive, and carrier GGAs when used in screening settings. The “Diagnostic Technologies” application was deemed appropriate for the pairs “Diagnostic/Diagnosis”, “Pre-symptomatic/Diagnosis”, “Prognostic/Staging”, and “Pharmacogenetic/Staging”, although it may require additional considerations such as the need for screening in the case of germline mutations, the use of appropriate accuracy measures for prognostic GGAs, and the evaluation of the clinical utility of pharmacogenetic or prognostic GGAs.

The proposed approach is a flexible tool that allows assessment of GGAs using a shared and validated methodology that considers the technical aspect, clinical utility, economic value, and delivery models. We found that the HTA Core Model fits the needs of GGA assessment, although some GGA peculiarities should be further explored in the assessment process.

Bipolar disorder in children is characterized by a different course than in adults, which is a diagnostic difficulty. DAT-1 is a dopamine transporter gene that regulates dopaminergic neurotransmission through the mechanism of active reuptake of this neurotransmitter from the synapse. Polymorphisms within the described gene can result in changes in dopamine levels, which may have implications for the development of bipolar disorder.

The aim of the project was to analyze the relationship between single nucleotide polymorphisms (SNPs) within the dopamine transporter gene DAT-1 and the risk of development of bipolar disorder in a population of children and adolescents.

21 healthy controls (12 females, 9 males) have been recruited into the study and 13 patients (9 girls, 4 boys) with bipolar disorder diagnosis from Department of Psychiatry and outpatient clinic, were recruited for the study group. Questionnaires such as the KSADS-PL were carried out and blood was taken for laboratory tests of four SNPs within the DAT-1 transporter. PQStat, Microsoft Excel 2013 and StatSoft STATISTICA were used to perform the statistical analysis.

SNPs within the dopamine transporter gene and environmental risk factors influenced the risk of developing bipolar disorder in the population of children and adolescents.

The ambiguity in results emphasizes the necessity for further investigations into correlation between genetic factors in bipolar disorder etiology. Future research should involve more participants. The results of this project are likely to make a significant and valuable contribution to the current knowledge of bipolar disorder and to the development of innovative diagnostic methods, making a significant contribution to the advancement of science.

None Declared

Down’s syndrome often requires specialized rehabilitation methods in order to effectively improve cognitive and motor functioning. The growing interest in technologies to support rehabilitation is opening up new and promising perspectives for improving the quality of life of people diagnosed with this syndrome. One of these technologies is the Computer Assisted Rehabilitation Environment (CAREN) system from Motek.

The aim of the planned research project is to explore the potential of using the CAREN system in the rehabilitation of people with Down’s syndrome.

The study included 10 participants with Down’s syndrome (men and women aged 18 to 50 years) without the presence of organic musculoskeletal disease or other somatic causes impairing motor performance. Before the training test, the participants were assessed by two psychological tests: 1) ACE III - Addenbrooke’s Cognitive Examination III Scale (ACE-III), which assesses attention and orientation, memory, verbal fluency, language and visuospatial functions and 2) the TONI 4 Non-Verbal Intelligence Test, which is a test used to measure general intelligence. The tests were carried out using the MOTEK CAREN device, which consists of a treadmill for motor training and a virtual reality screen on which different scenes are displayed for the participant to see during the test. Integrated motion capture technology was used to assess movement capabilities of the patients.. The screen displayed different types of applications in the form of virtual reality, in which the participant had to cope with various tasks accommodating different psychomotor skills, for example:crossing a virtual bridge, walking through a forest. The test took about 45 minutes per person. Two training sessions were conducted for each of the 10 patients with a one-month interval between them.

The Motek Caren System has proven to be a promising rehabilitation method for people with Down’s syndrome, compared to previous experience with different rehabilitation methods and existing research in the field.

Results emphasize the necessity for further investigations and future research should involve more participants. The project has the potential to integrate modern technology with traditional forms of therapy to improve the quality of life and functioning of people affected by this syndrome.

None Declared

The ongoing conflict in Ukraine has resulted in a significant influx of refugees seeking asylum in other countries, including Poland. Among these refugees are individuals who are struggling with mental health issues. Polish psychiatrists have stepped up to provide care for these patients, despite facing a number of challenges in the process.

This presentation aims to shed light on the experiences of Polish psychiatrists treating refugees during the war in Ukraine, highlighting the difficulties they have encountered and the strategies they have employed to provide the best possible care to their patients. The presentation also examines the impact of war on mental health, and the long-term effects on the well-being of refugees.

A questionnaire study was done among Polish Psychiatrists about the forms of support they provided for Ukrainin psychiatric patients they consulted after 24 February 2022. The responses to questionnaires were collected during psychiatric Congresses.

The most commonly reported symptoms were anxiety (44.1%), followed by depression (35.3%), and panic attacks (23.5%). Other symptoms like irritability and sleep disorders were reported by 11.8% and 8.8% of the respondents, respectively. Disturbingly, thoughts of resignation and suicidal ideation were also reported, albeit at lower frequencies (8.8% and 2.9%, respectively). A small percentage (2.9%) reported no new symptoms.

The high prevalence of anxiety and depression suggests that the war has had a profound impact on the mental health of the affected population. The emergence of severe symptoms like psychotic thoughts and suicidal ideation, although less frequent, is alarming and calls for immediate intervention. It is also noteworthy that a small but significant portion of the population reported no new symptoms, which may indicate resilience or other coping mechanisms at play.

The war in Ukraine has led to a range of new psychological symptoms among the affected populations, with anxiety, depression, and panic attacks being the most prevalent. Immediate and long-term psychological interventions are urgently needed to address these emerging mental health issues. Further research is also required to understand the resilience factors among those who reported no new symptoms.

None Declared

Obstructive sleep apnea (OSA) is associated with worse outcomes in stroke, Alzheimer’s disease (AD) and Parkinson’s disease (PD), but diagnosis is challenging in these groups. We aimed to compare the prevalence of high risk of OSA based on commonly used questionnaires and self-reported OSA diagnosis: 1. within groups with stroke, AD, PD and the general population (GP); 2. Between neurological groups and GP.

Individuals with stroke, PD and AD were identified in the Canadian Longitudinal Study of Aging (CLSA) by survey. STOP, STOP-BAG, STOP-B28 and GOAL screening tools and OSA self-report were compared by the Chi-squared test. Logistic regression was used to compare high risk/self-report of OSA, in neurological conditions vs. GP, adjusted for confounders.

We studied 30,097 participants with mean age of 62.3 years (SD 10.3) (stroke n = 1791; PD n = 175; AD n = 125). In all groups, a positive GOAL was the most prevalent, while positive STOP was least prevalent among questionnaires. Significant variations in high-risk OSA were observed between different questionnaires across all groups. Under 1.5% of individuals self-reported OSA. While all questionnaires suggested a higher prevalence of OSA in stroke than the GP, for PD and AD, there was heterogeneity depending on questionnaire.

The wide range of prevalences of high risk of OSA resulting from commonly used screening tools underscores the importance of validating them in older adults with neurological disorders. OSA was self-reported in disproportionately small numbers across groups, suggesting that OSA is underdiagnosed in older adults or underreported by patients, which is concerning given its increasingly recognized impact on brain health.

According to the Journal of Laws of the Republic of Poland, juveniles considered to be socially maladjusted are referred to the facilities called Youth Educational Centres. The aforementioned decision must be processed by court. Adolescents held there are guilty mainly of truancy, acts of vandalism, and the crime of theft. Other reasons might include substance abuse, fleeing from home and loitering without legal guardian’s supervision. The key purpose behind those institutions is adjusting to social standards, as well as rehabilitation of each juvenile delinquent. On the other hand, such behaviors may result from various mental disorders, which are often overlooked and underestimated.

The aim of this study was to assess the prevalence of psychiatric disorders among the inmates of Youth Educational Centres with a primary Focus on bipolar disorder. The existing knowledge on this subject is insufficient whereas the only available papers are based on retrospective studies of documents, which may have led to underestimation of mental condition in this population.

Patients were examined in person, using the K-SADS diagnostic interview. The missing details were also collected during reviewing the inmates’ documents. The study group consists of juveniles staying in two Youth Educational Centres, a male and female one, located in Silesian Province of southern Poland. Participation in the research was voluntary whereas information gathered during the interview remains confidential.

The study included 80 adolescents who previously had consented to participate. 60% (n=48) of them were males. Among the male patients 27.08% met the criteria for an episode of mania/hypomania, 37.5% for a depressive disorder whereas 22.92% fulfilled the criteria for both mania and depression. Seven boys were diagnosed beforehand, those included: one case of bipolar disorder, one schizoaffective disorder and five of them were receiving outpatient treatment for depressive episodes. Among female inmates: 40.63% met the criteria for both mania/hypomania and depressive disorder whereas as many as 78.13% claimed to have depressive disorder. Two girls have already been diagnosed – one suffered from bipolar disorder, manic depression and schizophrenia and the other was treated for depressive episodes.

Social maladjustment is often accompanied by a mental disorder or may be caused by one. Psychiatric disorders in adolescents, particularly bipolar disorder, usually have an atypical course, which can delay the appropriate diagnosis. Postponement of the crucial treatment is directly related to significant deterioration of the patient’s prognosis. In order to provide adequate and necessary support, juveniles referred to the Youth Educational Centres should be examined by a certified psychiatrist before the admission to such facility.

None Declared

Down syndrome (DS) is a complex condition that causes various health problems and it is accepted that treadmill training is a therapy method for some of them.

The objective was to evaluate the effectiveness of various results of treadmill training in children and adults with DS.

We included studies in which participants with DS from every age group received treadmill training, alone or combined with physiotherapy and could optionally be compared to a control group with patients with DS who did not use treadmill training. The search was conducted in medical databases: PubMed, PEDro, Science Direct, Scopus and Web of Science and involved trials published until July 2021. Following PRISMA criteria, the Risk of Bias assessment was conducted using a tool developed by the Cochrane Collaboration for RCT. The included studies presented multiple outcomes and various methodologies therefore we were not able to conduct any sort of data synthesis, we presented measures of treatment effect as mean differences and corresponding 95% confidence intervals.

5 studies with a total number of 687 participants were included. 10 trials reported on walking onset, 8 on gait parameters or cardiovascular functions, 4 on anti-inflammatory effect and 3 on executive or cognitive functions. We came across 25 different outcomes in different age groups which are presented in a narrative manner. In all outcomes we have observed a positive result favouring the treadmill training.

Introducing treadmill exercise into typical physiotherapy generates improvements of mental and physical health of people with DS of all ages.

No significant relationships.

Psychodrama and Drama therapy enable patients to establish contact with the threat of stepping into a given role. This gives the opportunity to learn how to control it, which leads to better expression of oneself and better communication with the environment. Those qualities are crucial in the treatment of mental disorders. Despite the variety of literature describing the methodology, clinical trials using these forms of therapy are relatively rare.

To describe the current trends in psychodrama (PD) and drama (DT) research over the last 6 years.

We have implemented a systematic approach to literature review, consistent with the PRISMA declaration. We searched through major medical databases: PubMed, Web of Science, Scopus by Elsevier and Science Direct for peer-reviewed articles published between 2015 and 2020. We have included studies using all types of methodology: mixed, quantitative and qualitative and also case studies. The risk of bias was assessed for randomized clinical trials, consistent with the PRISMA declaration.

Using our search strategy we have identified 24 publications with 454 participants. Most of the subjects were adults, only four studies focused on children. Overall, these studies looked at the effects of PD i DT on more than 25 different outcomes. Therefore theatre - based therapies research reports promising results across all methodologies. Although, most of the interventions have small groups of clients and are not randomized.

Current reports on the effectiveness of PD and DT still need to be verified on a larger group of patients.

No significant relationships.