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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.
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.
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).
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.
This study attempted to replicate whether a bias in probabilistic reasoning, or ‘jumping to conclusions’(JTC) bias is associated with being a sibling of a patient with schizophrenia spectrum disorder; and if so, whether this association is contingent on subthreshold delusional ideation.
Data were derived from the EUGEI project, a 25-centre, 15-country effort to study psychosis spectrum disorder. The current analyses included 1261 patients with schizophrenia spectrum disorder, 1282 siblings of patients and 1525 healthy comparison subjects, recruited in Spain (five centres), Turkey (three centres) and Serbia (one centre). The beads task was used to assess JTC bias. Lifetime experience of delusional ideation and hallucinatory experiences was assessed using the Community Assessment of Psychic Experiences. General cognitive abilities were taken into account in the analyses.
JTC bias was positively associated not only with patient status but also with sibling status [adjusted relative risk (aRR) ratio : 4.23 CI 95% 3.46–5.17 for siblings and aRR: 5.07 CI 95% 4.13–6.23 for patients]. The association between JTC bias and sibling status was stronger in those with higher levels of delusional ideation (aRR interaction in siblings: 3.77 CI 95% 1.67–8.51, and in patients: 2.15 CI 95% 0.94–4.92). The association between JTC bias and sibling status was not stronger in those with higher levels of hallucinatory experiences.
These findings replicate earlier findings that JTC bias is associated with familial liability for psychosis and that this is contingent on the degree of delusional ideation but not hallucinations.
The objective of this study was to determine the prevalence of sexual dysfunction in patients with schizophrenia under antipsychotic therapy and to investigate the effect of various parameters on sexual dysfunction.
A total of 827 stabilized outpatients who met DSM-IV criteria for schizophrenia, were recruited in the study. Arizona Sexual Experience Scale (ASEX) and the subscale on sexual function of the UKU Side Effects Rating Scale were applied at a single interview.
In total, 52.6% of the patients had sexual dysfunction, 54.2% reported a low sexual desire and 41.7% reported problems in having an orgasm. Erectile dysfunction and ejaculation problems were seen in 48.1% and 64.2% of the men, respectively; amenorrhea was seen in 24.9% of the women. ASEX score and severity of disease were found to be correlated (p = 0.02). Higher ASEX scores were observed in patients who smoked (p = 0.01). Men receiving atypical monotherapy had lower ASEX scores than those receiving a combination of atypical and conventional antipsychotics (p = 0.017). Patients on combination therapy had more ejaculation problems than the atypical group (p = 0.001). Low sexual desire was more prevalent among women using conventional drugs than those on atypical drugs (p = 0.004). In linear regression analyses, ASEX was affected significantly and independently by the severity of the disease only in men (p = 0.005).
Our results show that sexual dysfunction is widespread among patients with schizophrenia on antipsychotic medications.
First-degree relatives of patients with psychotic disorder have higher levels of polygenic risk (PRS) for schizophrenia and higher levels of intermediate phenotypes.
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.
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.
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.
El objetivo de este estudio fue determinar la prevalencia de disfunción sexual en pacientes con esquizofrenia tratados con antipsicóticos e investigar el efecto de varios parámetros sobre la disfunción sexual.
Se seleccionaron para el estudio 827 pacientes estabilizados que estaban siendo tratados de forma ambulatoria y que cumplieron los criterios de esquizofrenia del DSM-IV. Se aplicaron la Escala de Experiencias Sexuales de Arizona (ASEX) y la subescala de función sexual de la Escala de Puntuación de Efectos Secundarios UKU en una sola entrevista.
En total, el 52,6% de los pacientes tenía disfunción sexual, el 54,2% refirió poco deseo sexual y el 41,7%, dificultad para experimentar un orgasmo. Tenían disfunción eréctil y problemas de eyaculación el 48,1% y el 64,2% de los hombres, respectivamente; el 24,9% de las mujeres tenía amenorrea. Se encontró una correlación entre la puntuación ASEX y la gravedad de la enfermedad (p = 0,02). Los pacientes que fumaban tenían puntuaciones ASEX más altas (p = 0,01). Los hombres que recibían monoterapia atípica tuvieron unas puntuaciones ASEX más bajas que los que recibían una combinación de antipsicóticos atípicos y convencionales (p = 0,017). Los pacientes que recibían tratamiento combinado tenían más problemas de eyaculación que el grupo que recibía fármacos atípicos (p = 0,001). El deseo sexual bajo era más frecuente en mujeres que tomaban fármacos convencionales que en los que tomaban fármacos atípicos (p = 0,004). En los análisis de regresión lineal, ASEX varió significativamente y de forma independiente por la gravedad de la enfermedad sólo en hombres (p = 0,005).
Nuestros resultados demuestran que en pacientes con esquizofrenia que toman antipsicóticos es muy frecuente la disfunción sexual. 2007 Elsevier Masson SAS. Reservados todos los derechos.