Insular pathology in young people with high-functioning autism and first-episode psychosis.

BACKGROUND: Autism Spectrum Disorders (ASD) and psychosis share deficits in social cognition. The insular region has been associated with awareness of self and reality, which may be basic for proper social interactions. METHODS: Total and regional insular volume and thickness measurements were obtained from a sample of 30 children and adolescents with ASD, 29 with early onset first-episode psychosis (FEP), and 26 healthy controls (HC). Total, regional, and voxel-level volume and thickness measurements were compared between groups (with correction for multiple comparisons), and the relationship between these measurements and symptom severity was explored. RESULTS: Compared with HC, a shared volume deficit was observed for the right (but not the left) anterior insula (ASD: p = 0.007, FEP: p = 0.032), and for the bilateral posterior insula: (left, ASD: p = 0.011, FEP: p = 0.033; right, ASD: p = 0.004, FEP: p = 0.028). A voxel-based morphometry (VBM) conjunction analysis showed that ASD and FEP patients shared a gray matter volume and thickness deficit in the left posterior insula. Within patients, right anterior (r = -0.28, p = 0.041) and left posterior (r = -0.29, p = 0.030) insular volumes negatively correlated with the severity of insight deficits, and left posterior insular volume negatively correlated with the severity of 'autistic-like' symptoms (r = -0.30, p = 0.028). CONCLUSIONS: The shared reduced volume and thickness in the anterior and posterior regions of the insula in ASD and FEP provides the first tentative evidence that these conditions share structural pathology that may be linked to shared symptomatology.

Maternal depression symptoms, unhealthy diet and child emotional-behavioural dysregulation.

BACKGROUND: Maternal depression and unhealthy diet are well-known risk factors for adverse child emotional-behavioural outcomes, but their developmental relationships during the prenatal and postnatal periods are largely uncharted. This study sought to examine the inter-relationships between maternal depression symptoms and unhealthy diet (assessed during pregnancy and postnatal periods) in relation to child emotional-behavioural dysregulation (assessed at the ages of 2, 4 and 7 years). METHOD: In a large prospective birth cohort of 7814 mother-child pairs, path analysis was used to examine the independent and inter-related associations of maternal depression symptoms and unhealthy diet with child dysregulation. RESULTS: Higher prenatal maternal depression symptoms were prospectively associated with higher unhealthy diet, both during pregnancy and the postnatal period, which, in turn, was associated with higher child dysregulation up to the age of 7 years. In addition, during pregnancy, higher maternal depression symptoms and unhealthy diet were each independently associated with higher child dysregulation up to the age of 7 years. These results were robust to other prenatal, perinatal and postnatal confounders (such as parity and birth complications, poverty, maternal education, etc.). CONCLUSIONS: Maternal depression symptoms and unhealthy diet show important developmental associations, but are also independent risk factors for abnormal child development.

Association and epistatic analysis of white matter related genes across the continuum schizophrenia and autism spectrum disorders: The joint effect of NRG1-ErbB genes.

BACKGROUND: Schizophrenia-spectrum disorders (SSD) and Autism spectrum disorders (ASD) are neurodevelopmental disorders that share clinical, cognitive, and genetic characteristics, as well as particular white matter (WM) abnormalities. In this study, we aimed to investigate the role of a set of oligodendrocyte/myelin-related (OMR) genes and their epistatic effect on the risk for SSD and ASD. METHODS: We examined 108 SNPs in a set of 22 OMR genes in 1749 subjects divided into three independent samples (187 SSD trios, 915 SSD cases/control, and 91 ASD trios). Genetic association and gene-gene interaction analyses were conducted with PLINK and MB-MDR, and permutation procedures were implemented in both. RESULTS: Some OMR genes showed an association trend with SSD, while after correction, the ones that remained significantly associated were MBP, ERBB3, and AKT1. Significant gene-gene interactions were found between (i) NRG1*MBP (perm p-value = 0.002) in the SSD trios sample, (ii) ERBB3*AKT1 (perm p-value = 0.001) in the SSD case-control sample, and (iii) ERBB3*QKI (perm p-value = 0.0006) in the ASD trios sample. DISCUSSION: Our results suggest the implication of OMR genes in the risk for both SSD and ASD and highlight the role of NRG1 and ERBB genes. These findings are in line with the previous evidence and may suggest pathophysiological mechanisms related to NRG1/ERBBs signalling in these disorders.

Quality of life and psychiatric comorbidities in pediatric patients with Gilles de la Tourette syndrome. / Calidad de vida y comorbilidades psiquiátricas en pacientes pediátricos con síndrome de Gilles de la Tourette.

INTRODUCTION: Tourette Syndrome (TS) is a complex neurodevelopmental disorder which is normally associated to psychiatric comorbidity such as attention deficit hyperactivity disorder, obsessive compulsive disorder, anxiety or depression. Quality of life (QoL) in these patients can be affected by tic severity and associated comorbidities. AIM: The aim of the study was to describe and analyze QoL and psychiatric comorbidities in a sample of pediatric patients, as well as to develop a Spanish version of the questionnaire CandA-GTS-QoL to measure quality of life in this population. PATIENTS AND METHODS: Single-center, observational, prospective study. Patients aged 6 to 16 years old with TS were included. Demographic, clinical, diagnostic and treatment data were gathered. Questionnaires regarding tic severity, psychiatric comorbidity and quality of life were used. RESULTS: Twenty-two patients with DSM-5 diagnosis of TS were included (86.4% male, median age 11 years). Of those, 86.4% had been previously diagnosed of psychiatric comorbidities and 72.7% received psychopharmacologic treatment. The prevalence of an ICD-10 current diagnosis of anxiety was 72.7%, depression 50%, ADHD 40.9% and OCD 7.3%. Median QoL score was 59.5 (RIC: 34.8-71.3) for PedsQL, and 55.5 (RIC: 45-65) for CandA-GTS-QoL, with a correlation between scores of R2 = 0.83 (p < 0.01). Higher tic severity was associated with poorer QoL (PedsQL R2: -0.732, p <0.01, CandA-GTS-QoL R2: -0.501, p = 0.021). A higher EDAH score for ADHD was associated with poorer QoL (PedsQL R2: -0.463, p = 0.03, CandA-GTS-QoL R2-0.534, p < 0.01). CONCLUSION: Prevalence of psychiatric comorbidities in pediatric TS is high and frequently underdiagnosed. Tics and psychiatric comorbidities affect quality of life. Further studies are needed to validate the Spanish version of CandA-GTS-QoL scale.

TITLE: Calidad de vida y comorbilidades psiquiátricas en pacientes pediátricos con síndrome de Gilles de la Tourette.Introducción. El síndrome de Gilles de la Tourette es un trastorno complejo que se acompaña habitualmente de comorbilidades psiquiátricas, como trastorno por déficit de atención/hiperactividad (TDAH), trastorno obsesivo-compulsivo (TOC), ansiedad o depresión. La calidad de vida de estos pacientes puede verse afectada por la gravedad de los tics y por la presencia de estas comorbilidades. Objetivos. Describir y relacionar la calidad de vida y las comorbilidades psiquiátricas en una muestra de pacientes pediátricos con síndrome de Gilles de la Tourette, así como proporcionar una versión en español del cuestionario Gilles de la Tourette Syndrome-Quality of Life Scale for Children and Adolescents (CandA-GTS-QOL) para medir la calidad de vida en esta población. Pacientes y métodos. Es un estudio transversal, observacional y unicéntrico. Se incluyó a pacientes entre 6 y 16 años con diagnóstico de síndrome de Tourette, de los cuales se recogieron datos demográficos y clínicos, así como diagnósticos y tratamientos previos. Se entregaron cuestionarios de gravedad de los tics, comorbilidad psiquiátrica y calidad de vida. Resultados. Se incluyó a 22 pacientes (86,4%, varones; mediana de edad, 11 años) con diagnóstico de síndrome de Gilles de la Tourette (según los criterios del Manual diagnóstico y estadístico de los trastornos mentales, quinta edición). El 86,4% tenía comorbilidades psiquiátricas diagnosticadas y el 72,7% recibía algún tratamiento. La prevalencia de ansiedad fue del 72,7%, la de depresión, del 50%, la de TDAH, del 40,9% y la de TOC, del 27,3%. La mediana de calidad de vida medida por el Pediatric Quality of Life Inventory (PedsQL) fue de 59,5 (rango intercuartílico: 34,8-71,3), y por la CandA-GTS-QOL, de 55,5 (rango intercuartílico: 45-65) (R2, 0,83; p menor de 0,01). La gravedad de los tics se relacionó con una peor calidad de vida (PedsQL, R2: ­0,707; p menor de 0,01; y CandA-GTS-QOL, R2: ­0,501; p = 0,021). Una mayor puntuación la escala de Conners revisada para el TDAH se relacionó con peor calidad de vida (PedsQL, R2: ­0,463; p = 0,03; y CandA-GTS-QOL, R2: ­0,534; p menor de 0,01). Conclusión. La prevalencia de comorbilidades psiquiátricas en el síndrome de Gilles de la Tourette en nuestro medio es alta y frecuentemente infradiagnosticada. Los tics y las comorbilidades psiquiátricas afectan a la calidad de vida. Son necesarios estudios que validen la CandA-GTS-QOL.

Social Cognition in Autism and Schizophrenia Spectrum Disorders: The Same but Different?

Social cognition impairment is a core shared phenotype in both schizophrenia spectrum disorders (SSD) and autism spectrum disorders (ASD). This study compares social cognition performance through four different instruments in a sample of 147 individuals with ASD or SSD and in healthy controls. We found that both clinical groups perform similarly to each other and worse than healthy controls in all social cognition tasks. Only performance on the Movie for the Assessment of Social Cognition (MASC) test was independent of age and intelligence. Proportionately, individuals in the control group made significantly more overmentalization errors than both patients group did and made fewer undermentalization errors than patients with SSD did. AUC analyses showed that the MASC was the instrument that best discriminated between the clinical and control groups. Multivariate analysis showed negative symptom severity as a potential mediator of the association between social cognition deficit and poor global functioning.

Calidad de vida y comorbilidades psiquiátricas en pacientes pediátricos con síndrome de Gilles de la Tourette / Quality of life and psychiatric comorbidities in pediatric patients with Gilles de la Tourette syndrome

Introducción: El síndrome de Gilles de la Tourette es un trastorno complejo que se acompaña habitualmente de comorbilidades psiquiátricas, como trastorno por déficit de atención/hiperactividad (TDAH), trastorno obsesivo-compulsivo (TOC), ansiedad o depresión. La calidad de vida de estos pacientes puede verse afectada por la gravedad de los tics y por la presencia de estas comorbilidades. Objetivos: Describir y relacionar la calidad de vida y las comorbilidades psiquiátricas en una muestra de pacientes pediátricos con síndrome de Gilles de la Tourette, así como proporcionar una versión en español del cuestionario Gilles de la Tourette Syndrome-Quality of Life Scale for Children and Adolescents (C&A-GTS-QOL) para medir la calidad de vida en esta población. Pacientes y métodos: Es un estudio transversal, observacional y unicéntrico. Se incluyó a pacientes entre 6 y 16 años con diagnóstico de síndrome de Tourette, de los cuales se recogieron datos demográficos y clínicos, así como diagnósticos y tratamientos previos. Se entregaron cuestionarios de gravedad de los tics, comorbilidad psiquiátrica y calidad de vida. Resultados: Se incluyó a 22 pacientes (86,4%, varones; mediana de edad, 11 años) con diagnóstico de síndrome de Gilles de la Tourette (según los criterios del Manual diagnóstico y estadístico de los trastornos mentales, quinta edición). El 86,4% tenía comorbilidades psiquiátricas diagnosticadas y el 72,7% recibía algún tratamiento. La prevalencia de ansiedad fue del 72,7%, la de depresión, del 50%, la de TDAH, del 40,9% y la de TOC, del 27,3%. La mediana de calidad de vida medida por el Pediatric Quality of Life Inventory (PedsQL) fue de 59,5 (rango intercuartílico: 34,8-71,3), y por la C&A-GTS-QOL, de 55,5 (rango intercuartílico: 45-65) (R2, 0,83; p < 0,01)...(AU)

Introduction: Tourette Syndrome (TS) is a complex neurodevelopmental disorder which is normally associated to psychiatric comorbidity such as attention deficit hyperactivity disorder, obsessive compulsive disorder, anxiety or depression. Quality of life (QoL) in these patients can be affected by tic severity and associated comorbidities. Aim: The aim of the study was to describe and analyze QoL and psychiatric comorbidities in a sample of pediatric patients, as well as to develop a Spanish version of the questionnaire C&A-GTS-QoL to measure quality of life in this population. Patients and methods: Single-center, observational, prospective study. Patients aged 6 to 16 years old with TS were included. Demographic, clinical, diagnostic and treatment data were gathered. Questionnaires regarding tic severity, psychiatric comorbidity and quality of life were used. Results: Twenty-two patients with DSM-5 diagnosis of TS were included (86.4% male, median age 11 years). Of those, 86.4% had been previously diagnosed of psychiatric comorbidities and 72.7% received psychopharmacologic treatment. The prevalence of an ICD-10 current diagnosis of anxiety was 72.7%, depression 50%, ADHD 40.9% and OCD 7.3%. Median QoL score was 59.5 (RIC: 34.8-71.3) for PedsQL, and 55.5 (RIC: 45-65) for C&A-GTS-QoL, with a correlation between scores of R2 = 0.83 (p < 0.01). Higher tic severity was associated with poorer QoL (PedsQL R2: –0.732, p <0.01, C&A-GTS-QoL R2: –0.501, p = 0.021). A higher EDAH score for ADHD was associated with poorer QoL (PedsQL R2: –0.463, p = 0.03, C&A-GTS-QoL R2-0.534, p < 0.01). Conclusion: Prevalence of psychiatric comorbidities in pediatric TS is high and frequently underdiagnosed. Tics and psychiatric comorbidities affect quality of life. Further studies are needed to validate the Spanish version of C&A-GTS-QoL scale.(AU)