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Prolonged childhood and adolescent loneliness (CAL) is linked to various adverse mental health outcomes, yet its impact on schizophrenia spectrum disorders (SSD) has been understudied. While loneliness is associated with psychosis and worsens symptoms in SSD, few studies have explored the long-term effects of early loneliness on SSD risk. Understanding how CAL interacts with genetic liability to schizophrenia is essential for identification of high-risk individuals.
Aims
This study evaluated whether prolonged CAL is associated with increased SSD risk and examined the interaction between CAL and genetic liability for schizophrenia. Gender differences in these associations were also explored.
Method
Data from the European Gene–Environment Interactions in Schizophrenia (EU-GEI) study were analysed, including 1261 individuals with SSD, 1282 unaffected siblings and 1525 healthy controls. CAL was retrospectively assessed for periods before age 12 years and age 12–16 years. Genetic risk was measured using polygenic risk scores for schizophrenia. Logistic regression models and the Relative Excess Risk due to Interaction (RERI) method were used to examine gene–environment interactions, with stratification by gender.
Results
Prolonged CAL was associated with higher odds of SSD (odds ratio [95% CI] = 5.20 [3.85−7.01] for loneliness before age 12; odds ratio [95% CI] = 7.26 [5.63−9.38] for loneliness during adolescence). The interaction between CAL and genetic risk was strongest during adolescence (RERI [95% CI] = 23.46 [10.75−53.53]). Females showed a greater effect (odds ratio [95 %CI] = 10.04 [6.80−14.94]) than males (odds ratio [95% CI] = 5.50 [3.95−7.66]). Incorporating CAL and genetic interaction increased predictive values to 17% for SSD risk − rising to 22.5% in females − compared with 2.6 and 2.8%, respectively, for genetic risk alone.
Conclusions
Prolonged CAL significantly increases SSD risk, particularly in females. The inclusion of CAL alongside genetic risk substantially enhances predictive accuracy. Early identification of CAL could inform preventive strategies, especially in genetically vulnerable populations.
A growing body of evidence has shown the association between autoimmune thyroiditis and mental illness (Rege et al. AUS N J S Psychiatry 2013; 300 141-154). Identifying the neuropsychiatric features associated with thyroid antibody positivity could have significant implications for diagnostic and therapeutic strategies. However, the link between anti-thyroid antibodies and precise underlying pathophysiology requires future research.
Objectives
The aim of the present study was to conduct a retrospective evolution in patients diagnosed with schizophrenia spectrum disorder and affective disorder who were screened for anti-thyroid antibodies at the time of their hospitalization and to investigate neuropsychiatric features of anti-thyroid antibody-positive patients.
Methods
A total of 143 inpatients diagnosed with schizophrenia spectrum disorders and affective disorders between 2021 and 2023 were screened for anti-thyroid antibodies such as thyroid peroxidase (TPO) and thyroglobulin (TG). All patients were women. In order to elucidate the subsequent neuropsychiatric clinical features of individuals with positive anti-thyroid antibodies, the retrospective examination was conducted based on Neuropsychiatric Invetory-Q (NPI-Q) and DSM-V diagnostic criteria utilized at the time of hospitalization.
Results
The main age of the patients was 48.2 (SD 10.4). A total of 143 inpatients with schizophrenia spectrum disorders and affective disorders were screened for anti-thyroid antibodies at the time of their hospitalizations. %23.1 (n=33) tested positive for at least one of the anti-TG or anti-TPO. All patients were euthyroid. The neuropsychiatric diagnoses are shown in Table 1. The most common neuropsychiatric features assessed by NPI-Q are shown in Table 2. 12.1% (n=4) of all patients were treated with IV steroid Pulse therapy.Table 1.
Neuropsychiatric syndrom-level diagnostic patterns according to DSM-V
Patients with positive thyroid autoantibodies(n=33)
Manic syndrome
10 (30.3%)
Psychotic Syndrome
19 ( 57.6%)
Depression syndrome
5 (15.2%)
Catatonia
10 (30.3%)
Exited
6 (18.2%)
Stuporus
2 (6.1%)
Fluctuating
2 (6.1%)
Table 2.
The most common clusters of Neuropsychiatric features
NPI-Q
Positive Thyroid Autoantibodies(n=33)
Delusion
15 (45.4%)
Agitation/Aggression
14 (42.4%)
Irrıtability
14 (42.4%)
Motor abnormality
14 (42.4%)
Sleep disorder
15 (45.4%)
Appetite/Eating
14 (42.4%)
Conclusions
In particular, in a subset of schizophrenia spectrum disorder or affective disorder patients with positive anti-thyroid antibodies may indicate autoimmunity, especially in cases where catatonic symptoms dominate the clinical presentation.
In the winter of 1845–6 the United States Army languished on the border waiting for an opportunity to provoke what would be the Mexican–American War, or, as the Mexicans would come to call it, La Intervención Americana. To break the dull monotony, the army turned to theatre. In January, Second Lieutenant Ulysses S. Grant was cast as Desdemona in a production staged for the troops and the local community. Grant would later be the victorious general in the Civil War and the eighteenth president of the United States from 1869 to 1877. He was not yet that person. In 1846 he was a twenty-four-year-old, newly commissioned officer, only three years out of the US Military Academy. His peers, a cohort of junior officers who would become the senior military leadership on both sides of the Civil War, were also actors in the production, as well as its producers. The anecdote is humorous in large part because the Grant of national record and memory is the least Desdemona-like figure anyone can conceive. It has been repeated multiple times across the nineteenth century and still holds in the imagination almost two hundred years later.
Population-wide restrictions during the COVID-19 pandemic may create barriers to mental health diagnosis. This study aims to examine changes in the number of incident cases and the incidence rates of mental health diagnoses during the COVID-19 pandemic.
Methods
By using electronic health records from France, Germany, Italy, South Korea and the UK and claims data from the US, this study conducted interrupted time-series analyses to compare the monthly incident cases and the incidence of depressive disorders, anxiety disorders, alcohol misuse or dependence, substance misuse or dependence, bipolar disorders, personality disorders and psychoses diagnoses before (January 2017 to February 2020) and after (April 2020 to the latest available date of each database [up to November 2021]) the introduction of COVID-related restrictions.
Results
A total of 629,712,954 individuals were enrolled across nine databases. Following the introduction of restrictions, an immediate decline was observed in the number of incident cases of all mental health diagnoses in the US (rate ratios (RRs) ranged from 0.005 to 0.677) and in the incidence of all conditions in France, Germany, Italy and the US (RRs ranged from 0.002 to 0.422). In the UK, significant reductions were only observed in common mental illnesses. The number of incident cases and the incidence began to return to or exceed pre-pandemic levels in most countries from mid-2020 through 2021.
Conclusions
Healthcare providers should be prepared to deliver service adaptations to mitigate burdens directly or indirectly caused by delays in the diagnosis and treatment of mental health conditions.
A cumulative environmental exposure score for schizophrenia (exposome score for schizophrenia [ES-SCZ]) may provide potential utility for risk stratification and outcome prediction. Here, we investigated whether ES-SCZ was associated with functioning in patients with schizophrenia spectrum disorder, unaffected siblings, and healthy controls.
Methods
This cross-sectional sample consisted of 1,261 patients, 1,282 unaffected siblings, and 1,525 healthy controls. The Global Assessment of Functioning (GAF) scale was used to assess functioning. ES-SCZ was calculated based on our previously validated method. The association between ES-SCZ and the GAF dimensions (symptom and disability) was analyzed by applying regression models in each group (patients, siblings, and controls). Additional models included polygenic risk score for schizophrenia (PRS-SCZ) as a covariate.
Results
ES-SCZ was associated with the GAF dimensions in patients (symptom: B = −1.53, p-value = 0.001; disability: B = −1.44, p-value = 0.001), siblings (symptom: B = −3.07, p-value < 0.001; disability: B = −2.52, p-value < 0.001), and healthy controls (symptom: B = −1.50, p-value < 0.001; disability: B = −1.31, p-value < 0.001). The results remained the same after adjusting for PRS-SCZ. The degree of associations of ES-SCZ with both symptom and disability dimensions were higher in unaffected siblings than in patients and controls. By analyzing an independent dataset (the Genetic Risk and Outcome of Psychosis study), we replicated the results observed in the patient group.
Conclusions
Our findings suggest that ES-SCZ shows promise for enhancing risk prediction and stratification in research practice. From a clinical perspective, ES-SCZ may aid in efforts of clinical characterization, operationalizing transdiagnostic clinical staging models, and personalizing clinical management.
Psychosis spectrum disorder has a complex pathoetiology characterised by interacting environmental and genetic vulnerabilities. The present study aims to investigate the role of gene–environment interaction using aggregate scores of genetic (polygenic risk score for schizophrenia (PRS-SCZ)) and environment liability for schizophrenia (exposome score for schizophrenia (ES-SCZ)) across the psychosis continuum.
Methods
The sample consisted of 1699 patients, 1753 unaffected siblings, and 1542 healthy comparison participants. The Structured Interview for Schizotypy-Revised (SIS-R) was administered to analyse scores of total, positive, and negative schizotypy in siblings and healthy comparison participants. The PRS-SCZ was trained using the Psychiatric Genomics Consortiums results and the ES-SCZ was calculated guided by the approach validated in a previous report in the current data set. Regression models were applied to test the independent and joint effects of PRS-SCZ and ES-SCZ (adjusted for age, sex, and ancestry using 10 principal components).
Results
Both genetic and environmental vulnerability were associated with case-control status. Furthermore, there was evidence for additive interaction between binary modes of PRS-SCZ and ES-SCZ (above 75% of the control distribution) increasing the odds for schizophrenia spectrum diagnosis (relative excess risk due to interaction = 6.79, [95% confidential interval (CI) 3.32, 10.26], p < 0.001). Sensitivity analyses using continuous PRS-SCZ and ES-SCZ confirmed gene–environment interaction (relative excess risk due to interaction = 1.80 [95% CI 1.01, 3.32], p = 0.004). In siblings and healthy comparison participants, PRS-SCZ and ES-SCZ were associated with all SIS-R dimensions and evidence was found for an interaction between PRS-SCZ and ES-SCZ on the total (B = 0.006 [95% CI 0.003, 0.009], p < 0.001), positive (B = 0.006 [95% CI, 0.002, 0.009], p = 0.002), and negative (B = 0.006, [95% CI 0.004, 0.009], p < 0.001) schizotypy dimensions.
Conclusions
The interplay between exposome load and schizophrenia genetic liability contributing to psychosis across the spectrum of expression provide further empirical support to the notion of aetiological continuity underlying an extended psychosis phenotype.
There is evidence that environmental and genetic risk factors for schizophrenia spectrum disorders are transdiagnostic and mediated in part through a generic pathway of affective dysregulation.
Methods
We analysed to what degree the impact of schizophrenia polygenic risk (PRS-SZ) and childhood adversity (CA) on psychosis outcomes was contingent on co-presence of affective dysregulation, defined as significant depressive symptoms, in (i) NEMESIS-2 (n = 6646), a representative general population sample, interviewed four times over nine years and (ii) EUGEI (n = 4068) a sample of patients with schizophrenia spectrum disorder, the siblings of these patients and controls.
Results
The impact of PRS-SZ on psychosis showed significant dependence on co-presence of affective dysregulation in NEMESIS-2 [relative excess risk due to interaction (RERI): 1.01, p = 0.037] and in EUGEI (RERI = 3.39, p = 0.048). This was particularly evident for delusional ideation (NEMESIS-2: RERI = 1.74, p = 0.003; EUGEI: RERI = 4.16, p = 0.019) and not for hallucinatory experiences (NEMESIS-2: RERI = 0.65, p = 0.284; EUGEI: −0.37, p = 0.547). A similar and stronger pattern of results was evident for CA (RERI delusions and hallucinations: NEMESIS-2: 3.02, p < 0.001; EUGEI: 6.44, p < 0.001; RERI delusional ideation: NEMESIS-2: 3.79, p < 0.001; EUGEI: 5.43, p = 0.001; RERI hallucinatory experiences: NEMESIS-2: 2.46, p < 0.001; EUGEI: 0.54, p = 0.465).
Conclusions
The results, and internal replication, suggest that the effects of known genetic and non-genetic risk factors for psychosis are mediated in part through an affective pathway, from which early states of delusional meaning may arise.
The relationship between substance use disorders and aggression is complex and not only limited to direct effect of the drugs. Aggression increases the likelihood of substance abuse and is suggested to be a long term individual characteristic which is probably in association with personality traits preexisting before the substance use.
Aims/Objectives:
The aim of this study was to evaluate the relationship of personality dimensions with aggression among heroin dependent inpatients and to control the effect of psychiatric symptom severity on this relationship.
Methods:
Participants were consecutively admitted male heroine (n=78) dependent inpatients. Patients were investigated with the Buss–Perry Aggression Questionnaire (BPAQ), the Temperament and Character Inventory (TCI) and the Symptom Checklist-Revised (SCL-90-R).
Results:
Character dimensions self-directedness (SD) and cooperativeness (C) were negatively and self-transcendence (ST) and severity of psychiatric symptoms were positively correlated with severity of aggression and its dimensions. Low SD and C, which are indicative of a personality disorder, were predictors of aggression. Other predictors for aggression in heroin dependents were higher persistence (P) and ST. Severity of psychiatric symptoms predicted aggression together with low C, and high P.
Conclusions:
Aggression was more closely related with character dimensions rather than temperament dimensions. Nevertheless, low C and high P predicted the severity of aggression even when the severity of psychopathology was controlled. The careful evaluation of patients for the comorbid psychiatric disorders such as depression, anxiety and personality disorders are needed to handle aggression in heroin dependents which may be related with poor treatment outcome.
Aggression is suggested to be a predictive factor for alcohol use but the casual relationship between aggression and alcohol dependence is complex. Early aggressive acts are a risk factor for early onset alcohol dependence and aggression is suggested to be a long term individual characteristic which is probably in association with personality traits preexisting before the alcohol use.
Aims/Objectives:
The aim of this study was to evaluate the relationship of personality dimensions with aggression among alcohol dependent inpatients and to control the effect of psychiatric symptom severity on this relationship.
Methods:
Participants were consecutively admitted male alcohol (n=94) dependent inpatients. Patients were investigated with the Buss–Perry Aggression Questionnaire (BPAQ), the Temperament and Character Inventory (TCI) and the Symptom Checklist-Revised (SCL-90-R).
Results:
Character dimensions self-directedness (SD) and cooperativeness (C) were negatively and severity of psychiatric symptoms was positively correlated with severity of aggression and its dimensions. Low SD and C, which are indicative of a personality disorder, were predictors of aggression. When severity of psychiatric symptoms was included in analyses as an independent variable, it became the main predictor.
Conclusions:
Consistent with the hypothesis that aggression is an expression of poor character development, aggression was found to be more closely related with character compared to temperament dimensions. Nevertheless, our findings also suggest that the relationship between the aggression and character dimensions may be indirect through psychopathology. Therefore, when the aggression is the main problem, it is important to evaluate alcohol dependents for the personality dimensions and severity of psychiatric symptoms.
It was suggested that impulsivity is a temperamental risk factor for alcohol use and may be a fundamental mechanism in both the onset of excessive alcohol use and the relapse to alcohol use. Aim of this study was to evaluate the changes in impulsivity scores among alcohol dependents 12 month after inpatient treatment.
Methods:
Among 78 consecutively admitted male alcohol dependents, 58 were examined by face to face interview 12 months after discharge from hospital. Patients were investigated with the Barratt Impulsiveness Scale, version 11 (BIS-11) (10) both at the baseline and at the end of 12 months.
Results:
Among 58 alcohol dependent inpatients 61.8% (n=32) were considered as relapsed to heroin use during 12 month follow-up. Sociodemographic variables did not differ between the groups. Mean impulsivity scores did not differ between remission and relapsed groups at baseline, whereas only non-planning impulsivity was higher in relapsed group at follow-up. Impulsivity score decreased during 12 month follow-up in remission group, whereas increased in relapsed group. Among dimensions of impulsivity non-planning impulsivity decreased in remission group, whereas attentional impulsivity increased.
Discussion:
Results of the present study may suggest that while attentional impulsiveness may be the cause of alcohol use, non-planning impulsiveness may also be a vulnerability factor for alcohol dependency and relapse.
The aim of this study was to evaluate the changes in impulsivity scores among those who are still using buprenorphine as maintenance substitution treatment and those relapsed to heroin use in heroin dependent inpatients at the end of 12 month follow-up. We also controlled depression and trait state anxieties on the relationship between impulsivity and relapse.
Methods:
Among 78 consecutively admitted male heroin dependents, 52 (66.7%) were examined by face to face interview 12 months after discharge from hospital. Patients were investigated with the Barratt Impulsiveness Scale, version 11 (BIS-11), Beck Depression Inventory and State-Trait Anxiety Inventory at the end of 12 months.
Results:
Among 52 heroin dependent patients that were avalible to examine by face to face interview 23 (44.2%) were considered as relapsed to heroin use during the last year, whereas 29 (55.8%) were still in the maintenance treatment. Relapsed group has less attended to polyclinic control, outpatient treatment, they did not change their social environment, continue to see their dependent friends and used other drugs during 12 monts. Mean impulsivity, depression and anxiety scores were higher in the relapsed group. State anxiety and impulsivity, particularly motor impulsivity determined the relapse in regression analyses.
Discussion:
Together with state anxiety, which may be mediated by craving, motor impulsivity predicted relapse. In response to stress or environmental cues, an individual with substance abuse could use the substance in a rapid unplanned action without regard to the consequences.
The aim of the present study was to evaluate relationship of impulsivity with severity of ADHD symptoms while controlling the effects of anxiety and depression in a sample of inpatients with alcohol use disorder.
Method
Participants included 190 inpatients with alcohol use disorder. Participants were evaluated with the State-Trait Anxiety Inventory (STAI), the Beck Depression Inventory (BDI), the Short Form Barratt Impulsiveness Scale (BIS-11-SF) and the Adult ADHD Self-Report Scale (ASRS).
Results
Impulsivity predicted both severity of ADHD symptoms and inattentive and hyperactive/impulsive dimensions, even after controlling the effects of depression and anxiety in linear regression models. Types of negative affect that predicted dimensions of ADHD differed; similar with severity of ADHD symptoms, depression and trait anxiety also predicted inattentive dimension, whereas trait and state anxiety predicted hyperactive/impulsive dimension.
Conclusion
Impulsivity is related with severity of ADHD symptoms and dimensions of ADHD although negative affect that is related with dimensions may differ.
Disclosure of interest
The authors have not supplied their declaration of competing interest.
Previous studies reported high burnout rates and indicated significant factors associated with burnout syndrome among psychiatric trainees, such as hard working conditions, lack of supervision and not opting for psychiatry as a first career choice.
Objectives
A substantial amount of variance was reported in psychiatry training across countries. However, there is not sufficient national data regarding the rates and risk factors of burnout syndrome among psychiatric trainees in Turkey.
Aims
To determine the burnout syndrome rates and the risk factors associated with burnout syndrome among psychiatric trainees.
Methods
A questionnaire of occupational, educational and personal factors and Maslach burnout inventory (MBI) were answered by 180 of 450 psychiatric trainees in Turkey. The data was collected from 167 (56% females) trainees who completed the survey material. Converting the scores of three subscales by using MBI manual, a dichotomous variable (severe/non-severe burnout) was obtained for each participant and the data was analyzed using descriptive statistics and regression models.
Results
Mean age was 28.85 ± 2.99-year-old and mean duration of residency was 2.61 ± 1.31 years. Severe burnout was found in 38.3% of the trainees. Logistic regression confirmed that older age (P = 0.02) and pressure from superiors (P = 0.04) are predictive factors associated with severe burnout. The high number of patient visits (P = 0.001), violation of employee personal rights (P = 0.04) and pressure from superiors (P = 0.01) were significantly associated with the “wish working in another institution”.
Conclusions
Pressure from superiors and older age can be described as risk factors associated with burnout syndrome among psychiatric trainees in Turkey.
Disclosure of interest
The authors have not supplied their declaration of competing interest.
One hundred and twelve emergency medical staff are faced with many physical and mental problems due to the deterioration of their sleep-wake cycle and getting out of their usual work and social life.
Objectives
The aim of this study was to examine the effects of anxiety, depression, day time sleepiness on the quality of life in 112 emergency medical staff.
Methods
Target population of this cross-sectional study was the 112 emergency medical staff in the province of Rize. We tried to obtain all the universe (n = 154), so the sample was not selected. One hundred and four people (67%) participated in the study. In the data form, Epworth sleepiness scale, Beck Anxiety Inventory, Beck Depression Inventory and the SF-36 quality of life questionnaire were applied.
Results
The prevalence of pathological sleepiness was 14.4% (n = 15), the prevalence of anxiety was 39,8% (n = 41), the prevalence depression was 20,2% (n = 21), respectively (Table 1).
Conclusion
Based on high levels of anxiety and depression that reduces quality of life compared to the general population in 112 emergency services workers, motivational programs, coping strategies, psychological counseling services are required. Also, against the psychosocial risk factors forming anxiety and depression in the working life, organizational measures must be taken.
Disclosure of interest
The authors have not supplied their declaration of competing interest.
Turkish version of the UPPS Impulsive Behavior Scale was previously validated in a sample of psychiatric inpatients. The aim of the present study was to evaluate psychometric properties of the sensation seeking subscale of this scale in a sample of inpatients with alcohol use disorder.
Method
Participants (n = 190) were evaluated with the sensation seeking subscale of UPPS Impulsive Behavior Scale.
Results
Sensation seeking subscale had two factors, which together accounted for 63.80% of total variance. As similar with original subscale internal consistency for the sensation seeking (coefficient α=0.859), factor 1 (α=0.862) and factor 2 (α=0.755) examined by Cronbach's alpa, were high. Factor 1 (r = 0.894) and factor 2 (r = 0.863) were highly correlated with total score, whereas moderately correlated (r = 0.544) with each other. Test-retest correlation for sensation seeking (n = 120) was mild (r = 0.460). Test-retest correlation for factor 1 was moderate (r = 0.518) and for factor 2 was mild (r = 0.431).
Conclusion
These findings support the Turkish versions of the sensation seeking subscale of the UPPS has good psychometric properties among inpatients with alcohol use disorder.
Disclosure of interest
The authors have not supplied their declaration of competing interest.
The Palaeoproterozoic Birimian Supergroup of the West African Craton (WAC) consists of volcanic belts composed predominantly of basaltic and andesitic rocks and intervening sedimentary basins composed predominantly of wackes and argillites. Mafic metavolcanic rocks and granitoid-hosted enclaves from the Palaeoproterozoic Lawra Belt of Ghana were analysed for geochemical and Sr–Nd isotopic data to constrain the geological evolution of the southeastern part of the WAC. The metavolcanic rocks display mainly tholeiitic signatures, whereas the enclaves show calc-alkaline signatures. The high SiO2 contents (48.6–68.9 wt%) of the enclaves are suggestive of their evolved character. The high Th/Yb values of the samples relative to that of the mantle array may indicate derivation of their respective magmas from subduction-modified source(s). The rocks show positive εNd values of +0.79 to +2.86 (metavolcanic rocks) and +0.79 to +1.82 (enclaves). These signatures and their Nd model ages (TDM2) of 2.31–2.47 Ga (metavolcanic rocks) and 2.39–2.47 Ga (enclaves) suggest they were probably derived from juvenile mantle-derived protoliths, with possible input of subducted pre-Birimian (Archean?) rocks in their source(s). Their positive Ba–Th and negative Nb–Ta, Zr–Hf and Ti anomalies may indicate their formation through subduction-related magmatism consistent with an arc setting. We propose that the metavolcanic rocks and enclaves from the Lawra Belt formed in a similar island-arc setting. We infer that the granitoids developed through variable degrees of mixing/mingling between basic magma and granitic melt during subduction, when blobs of basic to intermediate parental magma became trapped in the granitic magma to form the enclaves.
How do international observers decide whether to criticize or condone electoral fraud in a country? We argue that this decision depends on the identity of the victims of electoral fraud. A monitoring organization is more likely to overlook fraud committed against groups that are deemed dangerous by its sponsor. Based on this insight, we hypothesize that in the post-Cold War era election monitors are more tolerant of fraud against Islamic challengers, especially when Islamic movements are perceived as a threat to political stability. In support of our hypothesis, we find that outside monitors are more likely to endorse an election in countries with an Islamic opposition party and an ongoing Islamist terrorist campaign. Furthermore, we find that the effect is driven by Western monitoring organizations and becomes stronger after the September 11 attacks. Our findings provide a simple yet powerful insight: the calculus of outside observers depends not only on who they wish to see in power, but also who they want to keep from power.
First-degree relatives of patients with psychotic disorder have higher levels of polygenic risk (PRS) for schizophrenia and higher levels of intermediate phenotypes.
Methods
We conducted, using two different samples for discovery (n = 336 controls and 649 siblings of patients with psychotic disorder) and replication (n = 1208 controls and 1106 siblings), an analysis of association between PRS on the one hand and psychopathological and cognitive intermediate phenotypes of schizophrenia on the other in a sample at average genetic risk (healthy controls) and a sample at higher than average risk (healthy siblings of patients). Two subthreshold psychosis phenotypes, as well as a standardised measure of cognitive ability, based on a short version of the WAIS-III short form, were used. In addition, a measure of jumping to conclusion bias (replication sample only) was tested for association with PRS.
Results
In both discovery and replication sample, evidence for an association between PRS and subthreshold psychosis phenotypes was observed in the relatives of patients, whereas in the controls no association was observed. Jumping to conclusion bias was similarly only associated with PRS in the sibling group. Cognitive ability was weakly negatively and non-significantly associated with PRS in both the sibling and the control group.
Conclusions
The degree of endophenotypic expression of schizophrenia polygenic risk depends on having a sibling with psychotic disorder, suggestive of underlying gene–environment interaction. Cognitive biases may better index genetic risk of disorder than traditional measures of neurocognition, which instead may reflect the population distribution of cognitive ability impacting the prognosis of psychotic disorder.