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BACKGROUND AND OBJECTIVE: The accurate diagnosis of schizophrenia spectrum disorder plays an important role in improving patient outcomes, enabling timely interventions, and optimizing treatment plans. Functional connectivity analysis, utilizing functional magnetic resonance imaging data, has been demonstrated to offer invaluable biomarkers conducive to clinical diagnosis. However, previous studies mainly focus on traditional machine learning methods or hand-crafted neural networks, which may not fully capture the spatial topological relationship between brain regions. METHODS: This paper proposes an evolutionary algorithm (EA) based graph neural architecture search (GNAS) method. EA-GNAS has the ability to search for high-performance graph neural networks for schizophrenia spectrum disorder prediction. Moreover, we adopt GNNExplainer to investigate the explainability of the acquired architectures, ensuring that the model's predictions are both accurate and comprehensible. RESULTS: The results suggest that the graph neural network model, derived using genetic algorithm search, outperforms under five-fold cross-validation, achieving a fitness of 0.1850. Relative to conventional machine learning and other deep learning approaches, the proposed method yields superior accuracy, F1 score, and AUC values of 0.8246, 0.8438, and 0.8258, respectively. CONCLUSION: Based on a multi-site dataset from schizophrenia spectrum disorder patients, the findings reveal an enhancement over prior methods, advancing our comprehension of brain function and potentially offering a biomarker for diagnosing schizophrenia spectrum disorder.

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We implemented a pilot study to investigate symptoms and functional outcomes of Asian Americans treated in urban community mental health centers for a diagnosis of schizophrenia spectrum disorder. Furthermore, we investigated whether these outcomes differed between East and Southeast Asians. We collected quantitative data from 75 participants recruited using a nonprobability sampling strategy from six urban community mental health centers. We used the Positive and Negative Syndrome Scale (Kay et al. in Schizophrenia Bulletin 13(2):261-276, 1987) and the Strauss and Carpenter Outcome Scale (Strauss and Carpenter in Archives of General Psychiatry 27(6):739-746, 1972) to measure their symptoms and functional outcomes. To compare the outcomes between East and Southeast Asians, we used a multivariable logistic regression model, which adjusted for the estimated effects of age, sex assigned at birth, and age at onset of illness for each outcome examined. The data shows that the treatment outcomes for this group are poor. Only a small number of participants experienced symptomatic remission (30.67%), role restoration (34.67%), and clinical recovery (21.33%). The majority of those who did not experience clinical recovery had difficulties sustaining symptomatic remission and restoring role functioning (54.67%). However, more participants achieved social restoration (68.00%). The results did not vary by national origin groups and sex assigned at birth. However, the participant's age, the age at which the illness began, or both determined whether the treatment outcomes were favorable. Findings underscore the need for interventions that improve symptom control to increase the likelihood of other favorable outcomes.

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Introduction: Suicidal ideation and behavior (SIB) are serious problems in people with schizophrenia spectrum disorders (SSD). Nevertheless, relatively little is known about the circuitry underlying SIB in SSD. Recently, we showed that elevated emotional impulsivity (urgency) was associated with SIB in SSD. Here we examined brain activity in people with SSD and elevated SIB. Methods: We tested 16 people with SSD who had low SIB and 14 people with high SIB on a task in which emotion regulation in response to affective pictures was implicitly manipulated using spoken sentences. Thus, there were neutral pictures preceded by neutral statements (NeutNeut condition), as well as negative pictures preceded by either negative (NegNeg) or neutral (NeutNeg) statements. After each picture, participants rated how unpleasant each picture was for them. The latter two conditions were compared to the NeutNeut condition. We compared the emotion-regulated condition (NeutNeg) to the unregulated condition (NeutNeut). Statistics were threshold using threshold free cluster enhancement (TFCE). Results: People in the low SIB group showed higher activation in this contrast in medial frontal gyrus, right rostral anterior cingulate, bilateral superior frontal gyrus/DLPFC, and right middle cingulate gyrus, as well as right superior temporal gyrus. Discussion: This study provides clues to the neural basis of SIB in SSD as well as underlying mechanisms.

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OBJECTIVE: The impact of obtaining second-opinion consultations on diagnoses of schizophrenia spectrum disorders was evaluated. METHODS: A retrospective chart review was conducted for 177 patients referred to a psychosis consultation service at an academic medical center from January 1, 2017, to October 1, 2023; these consultations aimed to clarify a diagnosis of psychosis. Diagnoses made before and after consultations were compared, and treatment recommendations resulting from the consultation visit were summarized. RESULTS: Among patients without a preconsultation diagnosis of schizophrenia, 28% (N=28 of 100) received a postconsultation diagnosis of schizophrenia. Among 62 patients with a postconsultation diagnosis of treatment-resistant schizophrenia (TRS), 56% (N=35) received this diagnosis only after consultation. Nearly all of these patients were advised to begin taking clozapine, and electroconvulsive therapy was less commonly recommended. CONCLUSIONS: Expert consultation facilitates timely identification and optimal treatment of schizophrenia and its more severe subtype, TRS.

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OBJECTIVES: Early maladaptive schemas represent unhelpful frameworks of cognitions, emotions and subsequent behavioural responses and can be associated with depressive symptoms. Caregivers of individuals with serious mental illness (SMI) frequently report experiencing depressive symptoms. It is unclear whether depressive symptoms in caregivers are influenced by schemas. We aimed to compare activated schemas in caregivers of people with schizophrenia spectrum (SSD) and bipolar disorder (BD) diagnoses and to determine whether they were differentially related to depressive symptoms. DESIGN AND METHODS: Caregivers completed validated measures of depression and schemas. Independent samples t-tests and multivariate generalised linear models were used to assess differences in schemas and depressive symptoms between caregiver groups. Interrelationships between schema domains and caregiver depressive symptoms were delineated using correlational analyses and forward stepwise regressions. RESULTS: One hundred eight caregivers participated in the study (SSD n = 68, BD n = 40). No differences in depressive symptom severity or activated schemas were observed between caregiver groups. All schemas were significantly associated with depressive symptoms, and the Disconnection-Rejection schema domain explained the most variance in depressive symptoms in both caregiver groups. CONCLUSIONS: Schemas contribute to the severity of caregiver depression regardless of whether the person receiving care is diagnosed with SSD or BD. Schema therapeutic frameworks may be beneficial for use with caregivers to address schemas within the Disconnection-Rejection domain and alleviate depressive symptoms by reducing experiences of social isolation and alienation.

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Rapidly progressive dementia (RPD) presenting initially as schizophrenia spectrum disorder poses significant diagnostic challenges. We present the case of a 55-year-old woman initially diagnosed with schizophrenia spectrum disorder due to symptoms including social withdrawal, disorganized behavior, and psychosis. However, the rapid progression of cognitive decline and motor dysfunction prompted further investigation, leading to the diagnosis of anti-N-methyl-d-aspartate (NMDA) receptor antibody-mediated encephalitis. Cerebrospinal fluid analysis revealed the presence of anti-NMDA receptor antibodies, guiding targeted immunomodulatory therapy with intravenous immunoglobulin and corticosteroids. This resulted in significant clinical improvement, highlighting the importance of comprehensive diagnostic evaluation and timely initiation of immunomodulatory therapy in autoimmune-mediated RPD. This case underscores the complexities of overlapping psychiatric and neurological conditions and emphasizes the need for a multidisciplinary approach to diagnosis and management.

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There is a growing interest in psychotherapeutic approaches to pre-psychotic high-risk states or first-episode psychosis, where mentalization-based treatment has shown its utility. This article presents a mentalization-based approach for the treatment of those individuals diagnosed with an evolved schizophrenia spectrum disorder, whose characteristics make them especially inaccessible to reflective psychotherapeutic treatment. A synthesis of the conceptual frameworks that justify the needs for technical modification of the mentalization-based treatment foundational techniques is carried out, followed by the proposal of adaptations, with a focus in self-agency and patient-therapist dyad. Therapeutic interventions are outlined, including illustrative examples. The mentalizing approach presented here holds promise for future research and treatment opportunities for patients with evolved schizophrenia and other serious mental disorders.

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BACKGROUND: Despite worldwide concern about the poor physical health of patients with schizophrenia spectrum disorders (SSD), physical health screening rates are low. This study reports nurses' and patients' experiences of physical health screening among people with SSD using the Finnish Health Improvement Profile (HIP-F) and their ideas for implementation improvements. METHODS: A qualitative exploratory study design with five group interviews with nurses (n = 15) and individual interviews with patients with SSD (n = 8) who had experience using the HIP-F in psychiatric outpatient clinics. Inductive content analysis was conducted. RESULTS: Two main categories were identified. First, the characteristics of the HIP-F were divided into the subcategories of comprehensive nature, facilitating engagement, interpretation and rating of some items and duration of screening. Second, suggestions for the implementation of physical health screening consisted of two subcategories: improvements in screening and ideas for practice. Physical health screening was felt to increase the discussion and awareness of physical health and supported health promotion. The HIP-F was found to be a structured, comprehensive screening tool that included several items that were not otherwise assessed in clinical practice. The HIP-F was also considered to facilitate engagement by promoting collaboration in an interactive way. Despite this, most of the nurses found the HIP-F to be arduous and too time consuming, while patients found the HIP-F easy to use. Nurses found some items unclear and infeasible, while patients found all items feasible. Based on the nurses' experiences, screening should be clear and easy to interpret, and condensation and revision of the HIP-F tool were suggested. The patients did not think that any improvements to the HIP-F were needed for implementation in clinical settings. CONCLUSIONS: Patients with schizophrenia spectrum disorders are willing to participate in physical health screening. Physical health screening should be clear, easy to use and relatively quick. With this detailed knowledge of perceptions of screening, further research is needed to understand what factors affect the fidelity of implementing physical health screening in clinical mental health practice and to gain an overall understanding on how to improve such implementation.

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Background: Schizophrenia spectrum disorders (SSD) can be associated with an increased risk of violent behavior (VB), which can harm patients, others, and properties. Prediction of VB could help reduce the SSD burden on patients and healthcare systems. Some recent studies have used machine learning (ML) algorithms to identify SSD patients at risk of VB. In this article, we aimed to review studies that used ML to predict VB in SSD patients and discuss the most successful ML methods and predictors of VB. Methods: We performed a systematic search in PubMed, Web of Sciences, Embase, and PsycINFO on September 30, 2023, to identify studies on the application of ML in predicting VB in SSD patients. Results: We included 18 studies with data from 11,733 patients diagnosed with SSD. Different ML models demonstrated mixed performance with an area under the receiver operating characteristic curve of 0.56-0.95 and an accuracy of 50.27-90.67% in predicting violence among SSD patients. Our comparative analysis demonstrated a superior performance for the gradient boosting model, compared to other ML models in predicting VB among SSD patients. Various sociodemographic, clinical, metabolic, and neuroimaging features were associated with VB, with age and olanzapine equivalent dose at the time of discharge being the most frequently identified factors. Conclusion: ML models demonstrated varied VB prediction performance in SSD patients, with gradient boosting outperforming. Further research is warranted for clinical applications of ML methods in this field.

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BACKGROUND: Studies investigating parenthood and how it affects long-term outcomes are lacking among individuals with schizophrenia spectrum disorders. This study aimed to examine the life of participants 20 years after their first diagnosis with a special focus on parenthood, clinical illness course, and family-related outcomes. METHODS: Among 578 individuals diagnosed with first-episode schizophrenia spectrum disorder between 1998 and 2000, a sample of 174 participants was reassessed at the 20-year follow-up. We compared symptom severity, remission, clinical recovery, and global functioning between 75 parents and 99 non-parents. Also, family functioning scored on the family assessment device, and the children's mental health was reported. We collected longitudinal data on psychiatric admission, supported housing, and work status via the Danish registers. RESULTS: Participants with offspring had significantly lower psychotic (mean (s.d.) of 0.89 (1.46) v. 1.37 (1.44), p = 0.031) negative (mean [s.d.] of 1.13 [1.16] v. 1.91 [1.07], p < 0.001) and disorganized symptom scores (mean [s.d.] of 0.46 [0.80] v. 0.85 [0.95], p = 0.005) and more were in remission (59.5% v. 22.4%, p < 0.001) and in clinical recovery (29.7% v. 11.1%, p = 0.002) compared to non-parents. When investigating global functioning over 20 years, individuals becoming parents after their first diagnosis scored higher than individuals becoming parents before their first diagnosis and non-parents. Regarding family-related outcomes, 28.6% reported unhealthy family functioning, and 10% of the children experienced daily life difficulties. CONCLUSIONS: Overall, parents have more favorable long-term outcomes than non-parents. Still, parents experience possible challenges regarding family functioning, and a minority of their children face difficulties in daily life.

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Background: Dual disorders (DD) entail the coexistence of a substance use disorder (SUD) and another mental health condition, often within psychotic and affective disorders. This study aims to evaluate lurasidone, an innovative atypical antipsychotic, in individuals diagnosed with schizophrenia spectrum disorder and concurrent comorbidities of alcohol use disorder/substance use disorder (AUD/SUD). Methods: A cohort of 23 subjects diagnosed with schizophrenia spectrum disorder and comorbid AUD/SUD underwent psychometric assessments at baseline (T0) and one-month (T1) post-lurasidone initiation. Results: Lurasidone exhibited significant reductions in psychopathological burden, evidenced by decreased total PANSS scores (Z = 2.574, p = 0.011). Positive symptoms, substance craving (VAS Craving; Z = 3.202, p = 0.001), and aggressivity (MOAS scale; Z = 2.000, p = 0.050) were notably reduced. Clinical Global Impression (CGI) scores significantly improved (Z = 2.934, p = 0.003). Quality of life enhancements were observed in SF-36 subscales (energy, emotional well-being, and social functioning) (p < 0.05) and Q-LES-Q-SF scale (Z = -2.341, p = 0.021). A safety analysis indicated lurasidone's good tolerability, with only 8.7% reporting discontinuation due to side effects. Conclusions: This study offers initial evidence supporting lurasidone's efficacy and safety in dual diagnoses, highlighting positive effects on psychopathology, substance craving, and quality of life. These findings emphasize the need for tailored, comprehensive treatment strategies in managing the complexities of this patient population.

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Autism Spectrum Disorder (ASD), characterized by socio-communicative abnormalities and restricted, repetitive, and stereotyped behaviors, is part of Neurodevelopmental Disorders (NDDs), a diagnostic category distinctly in accordance with the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition, (DSM-5), clearly separated from Schizophrenia Spectrum Disorder (SSD) (schizophrenia, schizophreniform disorder, schizoaffective disorder, schizotypal personality disorder). Over the last four decades, this clear distinction is gradually being replaced, describing ASD and SSD as two heterogeneous conditions but with neurodevelopmental origins and overlaps. Referring to the proposal of a neurodevelopmental continuum model, the current research's aim is to provide an update of the knowledge to date on the course of clinical symptoms and their overlaps among ASD and SSD. A narrative review of the literature published between January 2010 and June 2023 was conducted. Five studies were included. All studies show a global impairment in both conditions. Two studies show a focus on neurodevelopmental perspective in ASD and SSD. Only one study of these adopts a longitudinal prospective in terms of prognostic markers among ASD and SSD. Three studies underline the overlap between ASD and SSD in terms of negative, disorganized and positive symptomatology. To date, there is a gap in the current scientific literature focused on ASD-SSD course of clinical symptoms and their overlaps from a neurodevelopmental perspective. Future longitudinal studies to identify risk markers and tailored treatments are needed.

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El rastorno de espectro autista es un trastorno del neurodesarrollo con una prevalencia que llega al 1% de la población. Es frecuente que los síntomas principales de este trastorno, tales como el deterioro de las interacciones sociales, los intereses restringidos o atípicos y las deficiencias cognitivas y de la comunicación verbal, puedan confundirse con la sintomatología de la esfera psicótica propia de la esquizofrenia. Una adecuada evaluación es necesaria, dado que ambas entidades pueden coexistir con una prevalencia variable del 12 al 50%. Presentamos el caso clínico de una mujer que a los 20 años inicia seguimiento en la unidad de salud mental por sintomatología compatible con un trastorno obsesivo-compulsivo junto a una clínica caracterizada por apatía, anhedonia, abandono del autocuidado y progresivo deterioro funcional. Tras varias sesiones de evaluación, llegamos al diagnóstico de un trastorno del espectro autista. Realizamos una revisión bibliográfica en la que concluimos que la intersección de síntomas entre el autismo y la esquizofrenia es común y se aportan recomendaciones clínicas para diferenciar ambas entidades clínicas. (AU)

Autism spectrum disorder is a neurodevelopmental disorder with a current global prevalence of approximately 1%. It is common that the main symptoms of this disorder, such as deterioration in social interactions, restricted or atypical interests, and cognitive and verbal communication deficiencies, can be confused with symptoms of the psychotic sphere typical of schizophrenia. An adequate evaluation is necessary due that both entities can coexist with a variable prevalence of 12 to 50%. Moreover, both disorders can coexist with a variable prevalence of 12 to 50%. We present the clinical case of a woman who, at the age of 20, began follow-up in the mental health unit due to symptoms compatible with an obsessive-compulsive disorder along with a clinic characterized by apathy, anhedonia, abandonment of self-care and progressive functional deterioration. After several evaluation sessions, we diagnosed an autism spectrum disorder. We carry out a bibliographic review with which we conclude that the intersection of symptoms between autism and schizophrenia is common and clinical recommendations are provided to differentiate both clinical entities. (AU)

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Borderline Personality Disorder (BPD) is under-recognized in First-Episode Psychosis (FEP) and its psychotic manifestations are difficult to differentiate from Schizophrenia Spectrum Disorders (SSD). The aim of this investigation was to compare clinical, sociodemographic, and outcome characteristics between FEP patients with BPD vs. FEP subjects with SSD both at baseline and across a 2-year follow-up period. Participants completed the Health of the Nation Outcome Scale (HoNOS), the Positive And Negative Syndrome Scale (PANSS), and the Global Assessment of Functioning (GAF) scale both at entry and every 12 months during the follow-up. A mixed-design ANOVA model was conducted to investigate the temporal stability of clinical scores within and between the two subgroups. Among 356 FEP participants, 49 had a BPD diagnosis. Compared to FEP/SSD (n = 307), FEP/BPD patients showed higher prevalence of employment, current substance use, and past attempted suicide. They had a lower equivalent dose of antipsychotic medication at entry and lower levels of negative symptoms. Finally, they had a higher 2-year drop-out rate and a significant improvement in psychopathological scores limited to the first year of treatment. BPD as categorical entity represents a FEP subgroup with specific clinical challenges. Appropriate treatment guidelines for this FEP subgroup are thus needed.

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Whether the Swiss psychiatrist Carl Jung (1875-1961) became psychotic after his mid-thirties is much debated. His recently published Black Books, a seven-volume journal, reveal new insights into this debate. Based on a phenomenological analysis of his self-reports in these books and in other writings, we here identify several types of anomalous perceptual experiences: hypnagogic-hypnopompic experiences, hyperphantasia, hallucinations, personifications, and sensed presence. We argue that these experiences were not indicative of a psychotic disorder, but rather stemmed from extremely vivid mental imagery, or hyperphantasia, a condition Jung's contemporaries and later biographers were unable to take into account because it had not yet been conceptualised. Recently, the degree of vividness of mental imagery and its potential to become indistinguishable from regular sense perception has been the subject of extensive studies. Unknowingly, Jung may have foreshadowed this line of research with his psychoanalytic concept of reality equivalence, i.e., the substitution of an external world for an inner mental reality that he encountered in individuals diagnosed with schizophrenia. There is a need for future research to investigate the possible role of hyperphantasia in psychotic experiences, but to Jung, psychosis was 'a failure to contain and comprehend' the content of one's experiences in the context of one's own life, whereas he himself did manage to put the content of his perceptual experiences into context, to find meaning in them, and to share them with others - to great acknowledgement and acclaim.

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Introduction: Comorbid substance use disorder (SUD) is linked to a higher risk of violence in patients with schizophrenia spectrum disorder (SSD). The objective of this study is to explore the most distinguishing factors between offending and non-offending patients diagnosed with SSD and comorbid SUD using supervised machine learning. Methods: A total of 269 offender patients and 184 non-offender patients, all diagnosed with SSD and SUD, were assessed using supervised machine learning algorithms. Results: Failures during opening, referring to rule violations during a permitted temporary leave from an inpatient ward or during the opening of an otherwise closed ward, was found to be the most influential distinguishing factor, closely followed by non-compliance with medication (in the psychiatric history). Following in succession were social isolation in the past, no antipsychotics prescribed (in the psychiatric history), and no outpatient psychiatric treatments before the current hospitalization. Discussion: This research identifies critical factors distinguishing offending patients from non-offending patients with SSD and SUD. Among various risk factors considered in prior research, this study emphasizes treatment-related differences between the groups, indicating the potential for improvement regarding access and maintenance of treatment in this particular population. Further research is warranted to explore the relationship between social isolation and delinquency in this patient population.

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BACKGROUND: First-episode psychotic disorders comprise a heterogeneous phenotype with a complex etiology involving numerous common small-effect genetic variations and a wide range of environmental exposures. We examined whether a family of schizophrenia spectrum disorder (FH-Sz) interacts with an environmental risk score (ERS-Sz) regarding the outcome of patients with non-affective first episode psychosis (NAFEP). METHODS: We included 288 patients with NAFEP who were evaluated after discharge from an intensive 2-year program. We evaluated three outcome measures: symptomatic remission, psychosocial functioning, and personal recovery. We analyzed the main and joint associations of a FH-Sz and the ERS-Sz on the outcomes by using the relative excess risk due to interaction (RERI) approach. RESULTS: A FH-Sz showed a significant association with poor symptomatic remission and psychosocial functioning outcomes, although there was no significant interaction between a FH-Sz and the ERS-Sz on these outcomes. The ERS-Sz did not show a significant association with poor symptomatic remission and psychosocial functioning outcomes, even though the magnitude of the interaction between ERS-Sz and FH-Sz with the later outcome was moderate (RERI = 6.89, 95% confidence interval -16.03 to 29.81). There was no association between a FH-Sz and the ERS-Sz and personal recovery. CONCLUSIONS: Our results provide further empirical support regarding the contribution of FH-Sz to poor symptomatic remission and poor psychosocial functioning outcomes in patients with NAFEP.

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Mental illnesses are one of the biggest contributors to the global disease burden. Despite the increased recognition, diagnosis and ongoing research of mental health disorders, the etiology and underlying molecular mechanisms of these disorders are yet to be fully elucidated. Moreover, despite many treatment options available, a large subset of the psychiatric patient population is nonresponsive to standard medications and therapies. There has not been a comprehensive study to date examining the burden and impact of treatable genetic disorders (TGDs) that can present with neuropsychiatric features in psychiatric patient populations. In this study, we test the hypothesis that TGDs that present with psychiatric symptoms are more prevalent within psychiatric patient populations compared to the general population by performing targeted next-generation sequencing of 129 genes associated with 108 TGDs in a cohort of 2301 psychiatric patients. In total, 48 putative affected and 180 putative carriers for TGDs were identified, with known or likely pathogenic variants in 79 genes. Despite screening for only 108 genetic disorders, this study showed a two-fold (2.09%) enrichment for genetic disorders within the psychiatric population relative to the estimated 1% cumulative prevalence of all single gene disorders globally. This strongly suggests that the prevalence of these, and most likely all, genetic diseases is greatly underestimated in psychiatric populations. Increasing awareness and ensuring accurate diagnosis of TGDs will open new avenues to targeted treatment for a subset of psychiatric patients.

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BACKGROUND AND AIMS: There is some evidence that offspring of patients with schizophrenia have higher somatic morbidity, which is thought to be partially due to genetic links between somatic disorders and schizophrenia. This study explored differences in somatic diseases and conditions of adoptees with high genetic risk (HR) or low genetic risk (LR) for schizophrenia spectrum disorders. MATERIAL AND METHODS: The study is part of the Finnish Adoptive Family Study of Schizophrenia. The adoptive research design used made it possible to examine how the somatic health of adoptees raised in similar adoptive families, is affected by their genetic susceptibility to schizophrenia. The study sample consisted of 373 adoptees, of whom 190 had HR and 183 had LR for schizophrenia spectrum disorders. Data on somatic morbidity were gathered from the hospital records and from the national registers of the Care Register of Health Care and the Social Insurance Institution. RESULTS: The only statistically significant difference found was in genitourinary diseases, the likelihood being twofold higher in HR adoptees compared to LR adoptees (16.8% vs. 8.2%; adj. OR = 2.13, 95% CI 1.06-4.25, p = .033). Adoptees who were female and aged over 40 had a higher prevalence of genitourinary illnesses than non-adoptees. CONCLUSION: The significant prevalence of genitourinary diseases in adoptees at risk for schizophrenia spectrum disorders suggests that some specific somatic diseases and schizophrenia may have a shared hereditary etiology. More research is required for specific somatic diseases in study populations that can differentiate between the effects of genetic and environmental factors.

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OBJECTIVES: 22q11.2 deletion is the most prominent risk factor for schizophrenia (SZ). The aim of the present study was to identify unique transcriptome profile for 22q11.2 deletion syndrome (DS)-related SZ-spectrum disorder (SZ-SD). METHODS: We performed RNA-Seq screening in lymphoblasts collected from 20 individuals with 22q11.2DS (10 men and 10 women, four of each sex with SZ-SD and six with no psychotic disorders (Np)). RESULTS: Sex effect in RNA-Seq descriptive analysis led to separating the analyses between men and women. In women, only one differentially expressed gene (DEG), HLA-DQA2, was associated with SZ-SD. In men, 48 DEGs (adjp < 0.05) were found to be associated with SZ-SD. Ingenuity pathway analysis of top 85 DEGs (p < 4.66E - 04) indicated significant enrichment for immune-inflammatory response (IIR) and neuro-inflammatory signalling pathways. Additionally, NFATC2, IFNG, IFN-alpha, STAT1 and IL-4 were identified as upstream regulators. Co-expression network analysis revealed the contribution of endoplasmic reticulum protein processing and N-Glycan biosynthesis. These findings indicate dysregulation of IIR and post-translational protein modification processes in individuals with 22q11.2DS-related SZ-SD. CONCLUSIONS: Candidate pathways and upstream regulators may serve as novel biomarkers and treatment targets for SZ. Future transcriptome studies, including larger samples and proteomic analysis, are needed to substantiate our findings.

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