For more than 25 years, Bosnia and Herzegovina (BH) has maintained and improved reform processes in the field of mental health (MH) care. In the last 13 years, the results of the reform are visible, and they focused on the quality of services oriented to people with mental disorders (PMD), as well as raising the quality of specific services to the general population. The developed network of community mental health centers (CMHC) as the leading concept of the reform (community psychiatry) enabled affordable, timely and adequate protection of mental health in whole country, while relying on other resources, primarily clinical and hospital capacities and centers for social work.

Reform orientation had several directions: broad promotion and prevention, protection of the rights of the people with mental health disorders, quality education and more specific qualifications and competencies of mental health professionals and public promotion as a part of destigmatization.

Overview of the mental health reform in last two decades.

In last more than 25 years reforming processes were focused mainly to users of mental health services. Specific legislative was created and recently upgraded trough Mental Health Protection Law, as unique document focused to users, mental health professionals and services, and general population as well. Users organization were formed and have important role in creation of further directions in the reform. Main principles in daily care for users are community based with case management and intersectoral collaboration trough joint discharge planning. Also, special focus is given to media reporting about mental health as well as to children and adolescents, prenatal psychiatry and elderly.

Republic of Srpska and Bosnia and Herzegovina made significant steps and visible changes in the quaity of mental health services focused to users needs. Further activities will be oriented to continuous destigmatization of the people with mental health disorders, psychiatry and mental health professionals and further implementation of results achieved in reforming processes in our county.

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Incarcerated individuals are subject to a heightened risk of both mental and physical ailments. Hence, it is important to conduct regular assessments of their mental well-being and other potential health hazards.

The aim of this study is to examine the subjective experience of fear related to COVID-19 and the psychological consequences of the pandemic among a cohort of young adult male convicts.

A research design using an institutional-based quantitative cross-sectional approach was used. The data collecting period was from July to September 2022, during which data was gathered at a juvenile correctional facility located in the center area of Portugal. The researchers used questionnaires to gather data pertaining to demographic and health attributes, fear related to COVID-19, as well as measures of depression, anxiety, stress, and resilient coping.

The study included a cohort of 60 incarcerated males who had been imprisoned for a duration exceeding 2 years. The prevalence of stress was found to be the highest among offenders, with around 75% reporting this symptom. Anxiety was the second most often reported symptom, with 38.3% of inmates experiencing it, followed closely by depression, which was reported by 36.7% of the inmate population. The average score on the Fear of COVID-19 Scale was 17.38 ± 4.80, suggesting that participants generally reported mild levels of fear. A total of 38 subjects, accounting for 63.3% of the sample, had low scores in resilience. The participants’ responses indicated that their perceptions of mental health were within a fairly high range, with an average score of 3.62 ± 0.87. Similarly, their perceptions of physical health were also moderately high, with an average score of 3.73 ± 0.95. In terms of global health, participants reported a slightly lower average score of 3.27 ± 0.82 for the preceding month. The Pearson correlation matrix revealed statistically significant associations between fear of COVID-19 and characteristics linked to mental health, with the strength of these associations ranging from moderate to high (p < 0.001). The identification of predictive variables for fear of COVID-19 was accomplished by the use of a multiple linear regression model. Four predictors were identified in the study, namely age, perception of mental health, and overall levels of anxiety and stress. These predictors together account for about 49.7% of the variance in the outcome variable.

The findings of our research indicate a significant prevalence of stress among incarcerated individuals, accompanied by moderate levels of anxiety and depression. Our research has the potential to provide valuable insights for policymakers, mental health professionals, public health specialists, and other relevant stakeholders in the identification and effective management of pandemic-induced anxieties and mental health symptoms.

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Observed structural and functional changes in the central nervous system as a result of physical exercise are beneficial from biological, psychological and social standpoint. The studies published so far confirm that physical exercise, understood as planned, ordered and repetitive activity, can improve severity of symptoms, general functioning, and quality of life in patients with mood disorders, schizophrenia/psychotic disorders, anxiety, PTSD or addictions. This seems to be particularly important in relation to the growing number of patients facing resistance to classical pharmacological treatment as well as its side effects (e.g. metabolic syndrome, cardiovascular complications).

Review of effective implementation of treatment programs based on physical exercise within mental health services.

Scoping review was performed by identifying relevant studies available in the PubMed and Scopus databases that were 1) peer-reviewed 2) in English language 3) focused on physical exercises 4) published within the last 10 years. Selection of the studies from the initial group of search results was performed manually.

Majority of studies present programs covering relatively small, diverse groups of patients with mixed types of physical exercise modalities and intensity introduced, which makes generalization to basic principles very difficult. Needs assessment of patients from various diagnostic categories is vital in the process of implementation and evaluation. Barriers indicated by service users include lack of psychoeducation on perceived benefits, limitations within healthcare system (e.g., time limits, cost, access), side effects of medication, and psychosocial factors such as isolation. The assessment of factors engaging and motivating to maintain physical activity seems particularly important.

Identification of patients that may especially benefit from the inclusion of physical exercise, and recognition of therapeutic programs’ elements that ensure the maintenance of the physical activity require further research.

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Violence in psychiatric settings poses significant challenges for healthcare professionals, particularly nurses. This study examines psychiatric nurses’ perceptions of violence and its impact on the quality of care they provide.

The primary objective is to assess the influence of violence on the quality of care in psychiatric settings, with a focus on the experiences and perspectives of nurses.

We employed a questionnaire-based survey administered to 30 psychiatric nurses working in both inpatient and outpatient psychiatric units of the Razi hospital Manouba. The survey gathered information on the prevalence of violence, types of violence encountered, and the impact on nursing practice.

Of the 30 respondents, 75% identified as female and 25% identified as male. Most of them had more than five years of experience. The primary results revealed that all the psychiatric nurses reported experiencing at least one incident of violence during their psychiatric nursing careers. Regarding exposure to verbal violence, the results indicated that 52% encountered it sometimes, 22% often, 17% very often. Regarding physical violence, 30% experienced it rarely, 26% sometimes, 13% often, and 13% very often. For sexual violence, 56% reported never experiencing it, 8% rarely, 26% sometimes, and 8% very often. These incidents had varying effects on nurses’ emotional well-being, job satisfaction, and the quality of care they were able to provide. 53% of nurses reported experiencing emotional distress and feelings of anxiety as a result of violence, 13% felt anger and frustration. One nurse declared he was not affected emotionally. Most of the respondents (75%) indicated that their job satisfaction had been negatively affected by violent incidents. 40% of respondents stated that violence has a negative impact on their relationship with patients, but they make efforts to maintain care quality. Whereas, 20% found ways to strengthen connections despite challenging experiences.The most commonly endorsed strategies to cope with violence included attempting to master their emotions by remaining calm and patient (78% of respondents), seeking assistance or the presence of other healthcare team members (65%), and maintaining a safe distance from patients (69%). Fewer participants reported raising their voice and adopting a position of authority (30%), while a minority indicated engaging in additional training on the management of violent situations (20%). These results illustrate the diverse range of personal coping strategies.

Violence in psychiatric settings has a multifaceted impact on psychiatric nurses, affecting both their emotional well-being and the quality of care they provide. Strategies for managing and preventing violence, as well as supporting nurses in coping with these challenges, are essential for maintaining high-quality psychiatric care.

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Healthcare workers are at increased risk of Burnout due to the stressful demands of their job.

The aim of this study was to assess the prevalence and the related factors of burnout in healthcare workers at the Sahloul University Hospital, Tunisia

Data were collected from a cross sectional study using a questionnaire exploring socio-demographic and professional data, lifestyle habits and pathological history. Burnout was assessed using the French version of the Maslash Burnout Inventory (MBI).

Our study included 135 healthcare workers. The average age was 41.7 ± 9.15 years. 81.5% of the sample was female. Nurses accounted for 60% of staff. More than half (51.1%) worked shifts, with night work in 32.6%. A pathological history was noted in 17.8% of healthcare workers, and a history of work-related accidents in 40.7%. The prevalence of burnout in our study population was 42.6%, with a high emotional exhaustion score in 47.4%, a high depersonalization score in 23.7% and a low personal accomplishment score in 73.3%. Burnout was significantly associated with alcoholism (p=0.016), shift work (p=0.037) and the presence of stress at work (p=0.048).

The prevalence of burnout was high in our study population, hence the importance of setting up a burnout prevention strategy in hospitals.

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Paget’s disease is a chronic bone disorder, that is characterized by increased and disorganized bone remodelling, which can lead to bone pain, bone complications such as deformities and fractures, neurological and cardiovascular complications. This physical impact can alter patients ‘mental health and lead to anxiety or depression.

This study aimed to assess the mental health in patients diagnosed with paget’s bone disease

Paget’s disease patients were assessed by The Mental Health Continuum Short Form (MHC-SF) score. It consists of 14 items that were selected to represent each fact of well-being: 3 emotional well-being items (reflects hedonic well-being), 6 psychological well-being items, and 5 social well-being items (when combined, reflects eudemonic well-being). Items scores are summed, yielding a total score ranging from 0 to 70. Higher scores indicate greater levels of positive well-being.

Thirty patients were included. 60% were men and 40% were women. The average age was 65 years. Socio-economic level was low in 3.3%, average in 86.7%, good in 10% of cases. 93.3% were married and 6.7% were single. For the medical history, 80% had a previous history and 20% did not. Clinically, 83.3% had pain and 16.7% had no pain. Concerning the disease location, 4 had involvement of the skull, 15 of the spine, 13 of the sacrum, 13 of the femur, 1 of the tibia, 1 of the calcaneus and 3 of the humerus. As for complications, 36.7% had no complications, 56.7% had osteoarticular complications, 3.3% had neurological complications and 3.3% had cardio-vascular complications. Concerning treatment, 90% received bisphosphonate and 10% did not.

For the mental health questionnaire, the mean score was 36.4.

53.3% of patients had poor mental health, 43.3% were moderately healthy and 3.3% were thriving.

No significant associations were noted between level of mental health and age, pain level, complications, location of the disease, alkaline phosphatase and treatment p>0.05.

The impact of paget’s disease is not only physical but also psychological. The MHC-SF is useful to detect the mental illness.

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The research was conducted to explore the mental health issues, including anxiety, depression, low mood, emotional irrationality, and stressors related to pregnancy in the tertiary care hospital, in Karachi, after getting diagnosed with a life-threatening virus of hepatitis C and to determine the factors associated with depression among HCV-infected pregnant women. There appears to be a dearth of literature on this particular topic, and depression in HCV-infected pregnant women might not be dealt with effectively till this gap in the literature is addressed. The findings are to aid counselors in the formulation of treatment plans to help the patients during pregnancy and it helped to address the gaps in the antenatal care plans and support provided to the vulnerable population like HCV-Infected pregnant women.

To explore what are the anxieties, stressors, and fears of HCV-infected young mothers.To explore the experiences of infected young mothers with HCV.

We have used a qualitative design of the study and a convenient, purposeful sampling technique to acquire the data. In Karachi, Pakistan, a tertiary care hospital will host this trial. Young moms who registered HCV+ infections between January 2022 and June 2022 were included in the study. The tertiary healthcare setting was used for the investigation. The suggested number of 10 young moms with HCV who had been detected during pregnancy and came to the clinic for treatment were selected, those who provided consent and who were neither pregnant nor extremely unwell at the time of the study were eligible. The average age of the inhabitants was 26. There were 42.85% undergraduate mothers, 28.57% mothers with graduate degrees, and 28.57% mothers with postgraduate degrees in the population. Thematic analysis was utilized to evaluate the data, and the themes were generated by looking at the data and creating codes to look into the transcription’s content.

According to the findings, the referral system appeared to place a significant burden on individuals who were already dealing with the potentially fatal hepatitis C infection and were pregnant. In the antenatal period, when there should have been two different doctors’ visits, they were compelled to go to the same clinic.

The finding addressed the importance of specialized care setting in the tertiary care hospital in Karachi, Pakistan. There is a requirement of training programs for the development of soft skills of health care professionals and there must be awareness sessions to promote and mobilize the understanding of the spread of this disease.

To this research finding the importance of comprehensive health care support was identified. And it also depicts the importance of inclusive antenatal program design.

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Mental health is crucial and is the backbone of all dimensions of health; physical, social and spiritual. Mental health has multiple interfaces and it is important to bring mental health to the center stage as it is the key regulator of all human activities. Unfortunately, there are alarming gaps in mental health care especially in rural areas which require attention of mental health professionals and policy makers.The study aims to understand the causes of these gaps and suggest possible and practical solutions to bridge them.

To study the spectrum of mental health gaps present in rural areas of Haryana, a state in the northern part of India and find culturally sensitive and relevant solutions keeping in view the socio economic realities and prevalent legal framework.

Any factor having bearing on mental health but is operative sub-optimally would be considered as mental health gap for the current investigation. Rural camps were organized in 10 villages to assess the service gap at three different levels: overt (measurable), covert (including attitudinal) and ancillary (including those embedded in the psychiatry evaluation and treatment). The camps were organized by following these three basic steps: 1) Evaluating the geographic and demographic details of the villages selected. This was done by meeting the key stakeholders of the villages and the official health and service statistics available on the government website 2) Camp by multidisciplinary team in the villages with an advance intimation. The team members evaluated the mental health care awareness and the felt needs by interviewing all the villagers attending the camp on that particular day. 3) Post camp review by the team to analyze the service gaps and steps to address and narrow the gaps.

Apart from inadequate availability of professional and infrastructural resources, there were many  attitudinal and ancillary gaps serving as obstacles to treatment seeking. Trust gaps leading to poor acceptance and legislation not congruent with the socio cultural needs were key impediments. Rural people had more faith in Spiritual leaders and faith healers for their mental health issues and medical help was sought only when they have signs of physical illness. Mental health and illnesses were not on priority. Availability, accessibility and affordability of health services were important factors needing immediate attention.

Rural services need to be augmented by de professionalization and task shifting is the key to address and cover the yawning gaps in the services. Massive, coordinated, multidisciplinary and sustainable efforts are needed to bridge the multitude of gaps keeping in view poverty and illiteracy as compounding factors.

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Emotional competencies, according to Bisquerra Alzina & Escoda (2007), refer to “knowledge, skills and attitudes necessary to understand, express and appropriately regulate emotional phenomena” (p. 22) in the management of emotions with oneself and with the other.

Measure the emotional competencies Empathy, Emotional Expression and Emotional Regulation in health professionals in healthcare centers.

Quantitative descriptive. The Inventory of Emotional Competencies for Adults (Mikulic, Crespi, Radusky, 2015) was applied to 30 participants (doctor, psychologist, nurse, dentist).

The grouped measurements show skills at a medium and high level.Table 1.

Measurement of empathy capacity, emotional regulation capacity and emotional expression capacity

The emotional reaction of congruence with the emotional state of the other, empathy, shows a medium level (Table 1), a result consistent with the study by Ruiz González (2019), in the Colombian population, where a medium level of empathy is observed in doctors.

In the strategy for management, support, increase and suppression of the current affective state to self-soothe and find a state of relaxation, it is at an average value between medium and high (table 1.)

In the ability to start and maintain conversations, express one’s own thoughts and feelings clearly, both in verbal and non-verbal communication, and demonstrate to others that they have been well understood, the level is mostly medium (table 1.)

The levels of emotional competencies evaluated are mostly in the middle in the assessment by dimensions, empathy registered a lower level in contrast to other dimensions.Taking into consideration professional practice, response to organic and mental human vulnerability, it is a field for promoting the well-being of the health professional.

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Empathy is an essential skill in the doctor-patient relationship since it contributes to improve aspects of health care and patient satisfaction. Nevertheless, burnout research projects have been developed in recent years.

To examine the predictive capacity that empathy has on burnout syndrome in health professionals.

A non-experimental, cross-sectional design was proposed. The type of study was correlational-descriptive since it was sought out to explore a functional relation through the prognosis of a criterion variable. Sample: 200 (100 female and 100 male).

First, the variance of cognitive and Affective Empathy was dug out in the emotional exhaustation criterion scale. Results accounted for 15% of variability in emotional exhaustation. (Corrected R 2 = .15, F = 17,56, p = 0,00). The best predictor of emotional exhaustation refers to Cognitive Empathy. (B = -.27, p = 0.00). It does not seem that Affective Empathy acts as a predictor variable of Emotional Exhaustation. (Table 1).Table 1

Multiple linear regression analysis considering Emotional Exhaustation as a criterion.

The predictive capacity of Empathy in relation to Depersonalization was estimated (Corrected R 2 = .20, F = 25,4, p = 0.00). Cognitive and affective empathy were included as predictor variables and MBI as a criterion variable (Table 2). On one hand, the best predictor of Depersonalization is the Cognitive Empathy. On the other hand, regarding Affective Empathy, it does not act as a predictor of Depersonalization.Table 2

Multiple linear regression analysis considering Depersonalization as a criterion.

Lastly, the predictive capacity of Empathy in relation to Personal Achievement was figured out. (Corrected R 2 = .19, F = 23,4, p = 0.00). Cognitive Empathy is the best predictor for Personal Fulfillment (Table 3).Table 3

Multiple linear regression analysis considering Personal Fullfilment as a criterion.

It was noticed that through a linear multiple regression analysis, the variable that best explains Emotional Exhaustation is Cognitive Empathy. Those results are replicated for Depersonalization and Personal Fullfilment.

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Working in the intensive care unit (ICU) often involves intensely stressful and emotional situations, which can be strong predictors of poor mental health. Healthcare workers are required to perceive, understand, manage, and use their emotions to provide quality care.

To evaluate the impact of emotional intelligence (EI) on anxiodepressive disorders in nursing staff in the ICU.

This was a descriptive, cross-sectional, analytical study conducted among nursing staff in the ICUs of two hospitals in Tunisia. Data were collected over a 3-month period. EI was assessed using the SSEIT self-report test, and the hospital anxiety and depression scale (HADS) was used to measure anxiodepressive disorders. Sociodemographic aspects were also taken into account.

We included 92 healthcare workers. The majority were women (67.4%) with an average age of 25 to 54 years. Nurses represented 58.7% of the study population. About half had less than 5 years of occupational seniority. In terms of lifestyle habits, 76% were smokers, 90.2% did not consume alcohol, and 53% had no leisure activities. The majority had no personal, family, or medical psychiatric history.

The mean EI score was 109.9, ranging from 62 to 150. Anxiety was present in 43.49% of participants and depression in 51.08%.

A significant association was observed between anxiety and the perception of emotions (p=0.0196) and the management of others’ emotions (p=0.0261).

As for depression, a significant association was observed between perception of emotions and depression (p=0.0259), as well as between management of others’ emotions and depression (p=0.0126). EI was positively associated with HADS (p=0.0281), with a correlation value of 0.114.

Caregivers with anxiodepressive disorders had significantly lower levels of EI than those without anxiodepressive disorders, suggesting that EI maybe a protective factor against these disorders

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Prosocial behaviors are voluntary behaviors that are performed for the benefit of other people and promote harmonious relationships with others. This type of enhanced behavior could reduce physical and verbal aggressive acts in adolescents.

analyze the association between aggressive and prosocial behaviors in adolescents

The study was non-experimental of a transactional - correlational type, two evaluation instruments validated in the context were applied to 500 adolescents attending school in the department of Córdoba. The type of sampling was non-probabilistic.

A Pearson correlation was performed, previously verifying the normality of the data, which showed a statistically significant, negative association between the prosocial behaviors and the aggressive behaviors of those evaluated (Table 1).Table 1:

Correlation between prosocial behavior and aggressive behavior.

Negative associations were identified between the two variables under study, that is, as prosocial behavior increases, aggressive behaviors could decrease. This finding serves as a basis for carrying out future intervention strategies in adolescents in the department of Córdoba.

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There are few studies about how people with intellectual disability (ID) perceive their own quality of life (QoL), with research being focus, mainly, in the opinion of caregivers and/or family. Thinking about QoL, the World Health Organization developed an instrument that measures QoL, the WHOQOL. In Brazil, this instrument was adapted, validated and translated for people with ID and their caregivers.

The aim of this study was to increase knowledge and understanding of how people with ID perceive their own QoL.

This study was approved by the Ethics and Research Committee. Sample of 51 individuals aged between 19 and 54 years (G1), with medical diagnosis of ID, who did not present physical/mental disabilities and/or mental disorders and 31 caregivers (G2). G1 answered the WHOQOL-DIS-ID questionnaire and G2 answered the WHOQOL-DISID Proxy questionnaire. The results were statistically analyzed considering p-value ≤ 0.05.

The individuals with ID presented higher score on the psychological and lower score in the discrimination domain. The caregivers presented higher scores on the physical and lower scores in the autonomy domain. Regard the comparison between self-perception and the perception of caregivers, on Table 1, it was possible to observe significant differences in Psychological, Social, Environmental and all domains for the Disabilities Module.Table 1.

Correlation between Domains

It is critical that people with ID participate in the creation and/or changes of inclusion policies and actions. Since the relationship between the perception of self-reported QoL and reported by caregivers are different and converge only in the physical domain.

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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.

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Accordingly, the Korean Medication Algorithm Project for Bipolar Disorder (KMAP-BP) working committee, composed of domestic experts, developed Korea’s first KMAP-BP in 2002 and later in 2006, 2010, and 2010. A revised version of KMAP-BP was announced every four years four times in 2014 and 2018.6-10). The treatment strategy considering the safety and tolerability of KMAP-BP 2022 was developed by collecting opinions from domestic bipolar disorder experts.

Safety and tolerability of drugs are very important factors in the treatment of bipolar disorder. An expert opinion survey was conducted on treatment strategies in various special clinical situations, such as significant weight gain, characteristic drug side effects, low drug adherence, pregnant and reproductive women, and genetic counseling.

A written survey about treatment strategies related to safety and tolerability was prepared and focused on significant weight gain, characteristic drug side effects, low drug adherence, pregnant and reproductive women, and genetic counseling. Ninety-three experts of the review committee completed the survey.

In the case of weight gain occurring during drug treatment, it was preferred to replace it with a drug that caused less weight gain, such as lamotrigine, aripiprazole, or ziprasidone. If there was a significant weight gain due to the treatment drug, it was preferred to intervene as soon as possible. In the case of hyperprolactinemia, it was selected to change the medication and discontinue it for benign rash caused by lamotrigine. In improving drug adherence, the preference for long-acting injections increased. Antipsychotics can be used with great caution in pregnant or reproductive women.

Treatment strategies in various clinical situations related to safety and tolerability in drug treatment for bipolar disorder were described. It is hoped that it will be useful in practical clinical situations.

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Schizophrenia (SZ) is a common psychiatric neurodevelopmental disorder with a complex genetic architecture. Genomic association studies indicate the involvement of transcription factors in the pathogenesis of SZ. A recent GWAS showed a significant association of ZNF536 with SZ. To date, the molecular functions of ZNF536 are poorly understood and its possible role in the pathogenesis of SZ is unclear.

The aim of this work was to develop a model cell line for study ZNF536-mediated pathogenic mechanisms associated with SZ.

To assess the spatial interaction of ZNF536 with SZ risk loci, we used the Capture-C method. For ZNF536 deletion, SH-SY5Y was sequentially transduced with two lentiviral vectors. The first expressed Cas9 under the control of a tetracycline regulated promoter and the second expressed a pair of sgRNAs for ZNF536 deletion. Puromycin was used to select transduced cells. Stably transduced cells were then treated with oxytetracycline to induce Cas9 expression. In parallel, SH-SY5Y were transduced with lentiviral constructs of Cas9 and sgRNA carrying a spacer lacking targets in the human genome to obtain a negative control. Individual clones were obtained by the limiting dilution method. The ZNF536 deletion was confirmed by PCR and Sanger sequencing.

A spatial interaction of ZNF536 with SZ risk loci was found, suggesting its involvement in SZ pathogenesis. Using the CRISPR/Cas9 system, we obtained several clones with heterozygous deletion of ZNF536. We observed that their growth and proliferation were significantly slowed down. In addition, the mutant clones spontaneously differentiate into a neuron-like phenotype in low-serum medium.

We established a cellular model to study ZNF536-mediated mechanisms associated with SZ.

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Patients with Brugada Syndrome (BS), a rare inherited cardiac channelopathy, with an increased risk of developing arrhythmias, syncope and sudden cardiac death, also present serious adverse psychological outcomes that require medical support to improve their health and well-being as well as those of their families.

Here we report psychological concerns of a Tunisian patient who presented to our genetic counselling, with his three children, for molecular exploration of BS type 1.

Clinical, electrical, biological and psychological characteristics of the patient and his offspring were identified. Cytogenetic exploration using RHG banding and molecular screening of SCN5a gene mutations using High Resolution Melting and sequencing were carried out. Subsequently, genetic counselling was undertaken for all the family members and psychological concerns were reported.

A 51-year-old married man with an academic career was born from a consanguineous couple, with a family history of sudden cardiac death. He was diagnosed with BS1 based on the pathognomonic ST-segment elevation in leads V1–V3, after experiencing palpitations and syncope. He was treated by implantable cardioverter defibrillator. The patient was also being treated for diabetes and dyslipidemia. His children, a girl and two boys, were investigated by ECG, which revealed no electrical disorders. However, both boys reported chest pain on exertion. The 18-year-old girl presented with primary amenorrhea and infantilism, along with a Turner syndrome formula. Molecular analysis revealed none of the targeted mutations in the SCN5a gene. Psychologically, the patient had a phobia of death and reported painful sensations of imminent death at each palpitation. He was anxious about the clinical outcome of his children. The children reported anxiety about their autosomal dominant fathers’ disorder.

Approximately 16% of BS patients experience depression and anxiety. More attention needs to be indorsed to the psychological distress of BG patients and their families.

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Klippel-Feil abnormality (KFA) is an association of bone defects characterized by a triad: fusion of the cervical vertebrae and consequent short neck, low hairline and a limited motion in the neck. KFA may be a feature of another disorder, such as MURCS association. Familial mutations in the GDF6 (KFS1 8q22), MEOX1 (KFS2 17q21), GDF3 (KFS3 12p13) and MYO18B (KFS4 22q11) genes cause inherited KFA.

The aim of this study was to report dysmorphic features and psychological burdens in two sisters with Klippel-Feil condition.

Two sisters with amenorrhea and dysmorphic clinical features were examined at our genetic counselling. Assessment of dysmorphic and behavioral features and karyotyping using RHG banding were performed.

Familial history revealed consanguineous parents and seven other healthy sisters. Physical examination shown typical triad of KFA. Karyotyping showed 46,XX formula in both patients. The first 22-year-old sister had body asymmetry with size difference between the two sides at the level of bones, pectus excavatum of the sternum, an ascent of the left scapula, scoliosis, dental position abnormalities and facial dysmorphism. The second 28-year-old sister had size difference between the two legs and scoliosis, vitiligo and facial dysmorphism. Anxious and depressed, the two sisters had normal learning abilities but shared many personal psychological concerns regarding their physical appearance and their amenorrhea. They were also exposed to significant discrimination and stigma making them feel excluded and ignored because of their visible difference.

Physical appearance has a profound impact on a person’s life. To our knowledge, there is no reports that describe specific psychological burdens of KFA. Self-esteem, body image, and quality of life is negatively impacted in the case of dysmorphic physical appearance, always associated to social discrimination. Patients with KFA should be assessed not only for associated congenital defects but also for psychological distresses.

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The purpose of predictive genetic tests is to identify carriers or the onset of a disease in pre-symptomatic individuals. Prediction is linked to a negative psychological impact (anxiety, depression, etc.), depending on the perception of risk, the severity of the disease, and the availability and effectiveness of treatments.

Here, we report on genetic counselling during predictive genetic testing offered to an Arab family affected by fragile X condition (FXS) caused by the unstable expansion of a CGG repeat (CGGR) in the FMR1 gene.

A 10-year-old boy who harbored a mental retardation was referred to our genetic counselling for genetic testing as he was suspected to be affected by FXS. Screening of FMR1 gene mutations was conducted for the index case and his mother. A predictive genetic testing for the family members (brothers, sisters and others) was offered, focusing on knowledge of genetics and medical risks of FXS.

FMR1 molecular analysis showed a full mutation (300 to 2000 CGGR) for the boy and a large premutation (100 CGGR) for the mother. During genetic counselling, the family was informed about the significance of the genetic results. In FXS initiated by an expansion of over 200 CGGR. While mental retarded males usually harbor the full mutation, the mother carry a premutation (70 to 200 CGGR). The deficiency of FMR protein (FMRP) in the neurons of affected males leads to brain developmental abnormalities. Some pre-mutated children may show signs of the autism spectrum disorder and females may develop FMR1-related premature ovarian insufficiency. An increased risk of a late onset fragile X tremor ataxia syndrome is identified in pre-mutated men (55 to 200 CGGR) and less in women.

The reduction or loss of FMRP leads to multisystem damage. Neuropsychiatric disorders such as mental retardation, speech and language delay, autism spectrum disorder, sensory hyperexcitation, social anxiety, abnormal eye contact, shyness and aggressive behaviour are common in individuals with the mutation. Affected women are often under-diagnosed because mental retardation is not constant, but minor disorders including a borderline IQ with learning difficulties and emotional disturbances have been reported. Conditions associated with fragile X premutation, a term proposed by the European Fragile X Network (FXPAC), seem to be characterized by many physical and psychological health symptoms. Anxiety, depression, sleep disorders and mood disorders are more common in permutated individuals. However, new reports suggested that FXS patients could be at unusually low risk of cancers, because FMRP is over-expressed in multiple cancer tissues.

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Neurobiological studies have shown that genetic variations affecting the intensity of monoamine neurotransmission play an important role in aggressive behavior and borderline personality traits. Also, the effect of family environment has been repeatedly shown on aggressive behavior and interpersonal functioning. Population-based longitudinal studies pointed out interactions between the so-called monoaminergic sensitivity alleles and childhood adversities.

Our study aimed to analyze the associations between the most studied variable number tandem repeats of monoaminergic genes and the different psychological factors in adult patient and healthy control groups, checking for the moderating effects of the parental occupation and education, childhood abuse and trauma.

The recruited 73 patients with BPD diagnosis and 98 healthy controls were assessed by the Structured Clinical Interview for DSM-5. Participants filled out online questionnaires including the Level of Personality Functioning Scale – short version (LPFS-SR) and the Buss-Perry Aggression Questionnaire (BPQ). Childhood social environment and traumatic experiences were assessed by the Barratt Simplified Measure of Social Status and the Early Trauma Inventory or the Childhood Trauma Questionnaire. Genomic DNA samples were obtained either from peripheral blood, saliva or buccal swabs using the desalting technique. Functional dopaminergic and serotonergic polymorphisms were chosen based on previous findings, implicating them as sensitivity gene variants, e.g., the variable-number tandem-repeats of the dopamine D4 receptor, serotonin transporter and the monoamine oxidase-A (MAO-A) genes. Since the MAO-A gene is located on the X chromosome, sex-stratified analyses were also carried out.

Family environment indexed by the Barratt Simplified Measure Social Status had significant effect on anger, hostility and interpersonal functioning (p < 0.01). In the pooled sample of patients and controls, individuals carrying the high activity alleles of MAOA had elevated scores on the BPQ subscales. When analysis was limited to female participants, the genetic effect stayed significant only at the anger scale of the BPQ.

Family environment had pronounced effect on aggressive behavior and personality functioning, interaction with common monoaminergic genetic variants was detected only in women.

This study was supported by the National Research Development and Innovation Office grants NKFI K 129195 and NKFI K 135437.

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