Dissecting the catatonia phenotype in psychotic and mood disorders on the basis of familial-genetic factors.

BACKGROUND: This study examines the familial aggregation (familiality) of different phenotypic definitions of catatonia in a sample of multiplex families with psychotic and mood disorders. METHODS: Participants were probands with a lifetime diagnosis of a DSM-IV functional psychotic disorder, their parents and at least one first-degree relative with a psychotic disorder. The study sample included 441 families comprising 2703 subjects, of whom 1094 were affected and 1609 unaffected. Familiality (h2) was estimated by linear mixed models using family membership as a random effect, with h2 indicating the portion of phenotypic variance accounted for by family membership. RESULTS: Familiality estimates highly varied for individual catatonia signs (h2=0.17-0.65), principal component analysis-derived factors (h2=0.29-0.49), number of catatonia signs present (h2=0.03-0.43) and severity of the catatonia syndrome (h2=0.25-0.59). Phenotypes maximizing familiality estimates included individual signs (mutism and rigidity, both h2=0.65), presence of ≥5 catatonia signs (h2=0.43), a classical catatonia factor (h2=0.49), a DSM-IV catatonia syndrome at a severity level of moderate or higher (h2=0.59) and the diagnostic construct of psychosis with prominent catatonia features (h2=0.56). Familiality estimates of a DSM-IV catatonia syndrome did not significantly differ across the diagnostic categories of psychotic and mood disorders (h2=0.40-0.47). CONCLUSIONS: The way in which catatonia is defined has a strong impact on familiality estimates with some catatonia phenotypes exhibiting substantial familial aggregation, which may inform about the most adequate phenotypes for molecular studies. From a familial-genetic perspective, the catatonia phenotype in psychotic and mood disorders has a transdiagnostic character.

Caracterización del reconocimiento emocional con caras dinámicas como posible marcador de susceptibilidad en la esquizofrenia / Caracterization by dynamic facial emotion recognition as a possible marker of susceptibility to schizophrenia

Introducción: Existen estudios que han demostrado que las alteraciones en el reconocimiento emocional son heredables y constituyen marcadores endofenotípicos para la esquizofrenia, sin embargo estos estudios se han realizado con caras estáticas. Con empleo de caras dinámicas se ha reportado mayor activación de los circuitos neurales involucrados en el reconocimiento emocional, por tanto podría ser también un endofenotipo para la enfermedad. Objetivo: Evaluar el criterio de heredabilidad para el reconocimiento emocional en una muestra de pacientes cubanos. Métodos: Se realizó un estudio transversal. La muestra estuvo constituida por 96 pacientes con diagnóstico de esquizofrenia según los criterios del DSM-IV. Se evaluaron además 192 familiares de primer grado de los pacientes y 107 sujetos sanos como controles. Para la evaluación clínica se aplicaron escalas clinimétricas y el test de reconocimiento emocional a partir de expresiones faciales dinámicas. Resultados: A pesar de las evidencias de asociación familiar previamente reportadas, los valores de heredabilidad para las 6 emociones exploradas fueron bajas. Conclusiones: La baja heredabilidad indica mayor efecto de los factores ambientales que los genéticos para el reconocimiento emocional con caras dinámicas. Por tanto, no hay evidencias suficientes de que sea un endofenotipo para la enfermedad(AU)

Introduction: Several studies have documented that the alterations in emotional recognition is heritable and constitute endophenotype markers for schizophrenia, however, these studies have been develop with static faces. It has been reported that using dynamic faces there is higher activation of neural circuits involved in emotional recognition and then could be an endophenotype for the illness. Objective: To evaluate heritability criteria for emotional recognition in a sample of Cuban patients. Methods: A transversal study was carried out. The sample was composed by 96 patients with diagnosis of schizophrenia according to the DSM-IV criterias. For the study, were evaluated 192 first-degree relatives of the patients and 107 healthy subjects as controls. To consider clinical evaluation, clinimetric scales and the emotional recognition test with dynamic facial expressionswere applied. Results: In spite ofevidence of family association previous reported, rates of heritability for the 6 emotion explored were low. Conclusions: Low heritability suggest higher effect of environmental factors than genetic factor for emotional recognition with dynamic faces. However, there is no enough evidence for it to be an endophenotype for schizophrenia(AU)

[Evoked potentials N200/P300 disorders and clinical phenotype in Cuban families with paranoid schizophrenia: a family-based association study]. / Estudio de asociación familiar entre las alteraciones de los potenciales evocados N200/P300 y el fenotipo clínico en familias cubanas con esquizofrenia paranoide.

INTRODUCTION: N200 and P300 event-related evoked potentials provide sensitive measurements of sensory and cognitive function and have been used to study information processing in patients with schizophrenia and their unaffected first-degree relatives. Reduced amplitude and increased latency of N200 and P300 potentials have been consistently reported in schizophrenia. Thus, event-related evoked potentials abnormalities are promising possible biological markers for genetic vulnerability to schizophrenia. OBJECTIVE: To assess the association of changes in latency, amplitude and topographic distribution of potentials N200 and P300 of patients with paranoid schizophrenia and their healthy first-degree relatives, in families with schizophrenia multiplex. METHODOLOGY: We measured latency and amplitude of the N200 and P300 component of evoked potentials using an auditory odd-ball paradigm in 25 schizophrenic patients (probands) from 60 families multiply affected with paranoid schizophrenia, 23 of their non-schizophrenic first-degree relatives and 25 unrelated healthy controls, through a study of family association. RESULTS: Schizophrenic patients and their relatives showed significant latency prolongation and amplitude reduction of the N200 and P300 waves compared to controls. Left-temporal as compared to right-temporal N200 and P300 were significantly smaller in schizophrenic patients and their non-schizophrenic first-degree relatives than in controls. Our results suggest that event-related evoked potentials abnormalities may serve as markers of genetic vulnerability in schizophrenia. CONCLUSIONS: Confirming results of other researchers, this present study suggests that latency prolongation and amplitude reduction of the N200 and P300 waves and an altered topography at temporal sites may be a trait “marker” of paranoid schizophrenia.

INTRODUCCIÓN: Los potenciales relacionados a eventos N200 y P300 son herramientas sensibles para evaluar el funcionamiento sensorial y cognitivo. Debido a que, frecuentemente se reporta una prolongación de la latencia y una disminución de la amplitud de los componentes N200 y P300 en pacientes con esquizofrenia, estos potenciales constituyen marcadores biológicos de vulnerabilidad genética para este trastorno mental. OBJETIVO: Precisar la asociación de las alteraciones en la latencia, la amplitud y la distribución topográfica de los potenciales N200 y P300 de pacientes con esquizofrenia paranoide y sus familiares sanos de primer grado, pertenecientes a familias con esquizofrenia multiplex. MÉTODOS: Se utilizó un paradigma “odd-ball” auditivo para evaluar la latencia, la amplitud y la distribución topográfica de los componentes N200 y P300 en 25 pacientes con esquizofrenia paranoide (probandos), 23 familiares sanos de primer grado y 25 sujetos controles, mediante un estudio de asociación familiar en 60 familias afectadas con esquizofrenia multiplex. RESULTADOS: Los probandos y sus familiares mostraron una prolongación significativa de la latencia y una disminución de amplitud de las ondas N200 y P300 cuando se compararon con los sujetos sanos. De igual forma, la amplitud de los potenciales N200 y P300 resultó significativamente disminuida en regiones temporales del hemisferio izquierdo de los probandos y sus familiares con respecto al grupo control. CONCLUSIONES: En concordancia con resultados de otros investigadores, este estudio sugiere que, la prolongación de latencia, la disminución de amplitud y las alteraciones en la distribución topográficas detectadas en regiones temporales de los potenciales N200 y P300, pueden constituir por su elevada asociación familiar, marcadores de rasgo para la esquizofrenia paranoide.

Depressive symptoms evaluated by the Calgary Depression Scale for Schizophrenia (CDSS): genetic vulnerability and sex effects.

The present study compares the occurrence of depressive symptoms evaluated by the Calgary Depression Scale for Schizophrenia (CDSS) in patients of Multiplex (MS) and Simplex Schizophrenia families (SS). The Positive and Negative Syndrome Scale (PANSS) was used to evaluate psychopathology. A total of 206 paranoid schizophrenia patients were studied according DSM-IV criteria. The Family Interview for Genetic Studies (FIGS) was used to study the families. A result in the FIGS for a positive family history of schizophrenia was referred as MS (patients); its lack as SS (patients). CDSS scores were compared among MS and SS patients and possible sex differences intra- and inter-groups were explored. In the analysis of our sample (30) 19% of the total persons with schizophrenia group was depressed. The depressive symptoms measured by the CDSS were higher in females and the MS males group. Males from MS group showed more depressive symptoms than males from SS group. No differences with females from both groups were found. Findings in this study underscore the importance of gender and family history in understanding the heterogeneity of schizophrenia. This study suggests that sex and familiar history are important to consider in studying depressive symptoms.

Perceptual/attentional anomalies in schizophrenia: a family study.

Endophenotypes have emerged as an important concept in the study of schizophrenia. Perceptual/attentional anomalies were examined as potential endophenotypes in a family study using a strategy for "multiplex/simplex schizophrenia". The sample was comprised of 797 subjects: 206 schizophrenia patients, 302 first-degree relatives and 289 controls. The Spanish versions of the Structured Interview for Assessing Perceptual/attentional Anomalies (SIAPA) and Positive and Negative Symptoms Scale (PANSS) were applied to measure the presence of perceptual/attentional anomalies, and positive and negative subscale respectively. An ANCOVA was carried out for global comparisons between groups. The multiplex schizophrenic group had significantly more frequent auditory and visual perceptual/attentional anomalies than Simplex schizophrenic and control groups. The most interesting finding was that the severity of auditory and visual perceptual/attentional anomalies and negative symptoms was significantly higher in the relatives of the multiplex schizophrenia group than in those relatives from the simplex schizophrenia and control groups. The existence of perceptual/attentional anomalies in nonaffected relatives suggests the presence of familial association for these symptoms which may therefore be a potential endophenotype suitable for genetic studies.