10 documents found, page 1 of 1

Prevalence of autism spectrum disorder in the centro region of Portugal: A popu...

Introduction: Accurate prevalence estimates for Autism Spectrum Disorder (ASD) are fundamental to adequately program medical and educational resources for children. However, estimates vary globally and across Europe, and it is therefore wise to conduct epidemiological studies in defined geo-cultural contexts. Methods: We used a population screening approach to estimate the prevalence of ASD in the Centro region...

Evidence for an association of prenatal exposure to particulate matter with cli...

Early-life exposure to air pollutants, including ozone (O3), particulate matter (PM2.5 or PM10, depending on diameter of particles), nitrogen dioxide (NO2) and sulfur dioxide (SO2) has been suggested to contribute to the etiology of Autism Spectrum Disorder (ASD). In this study, we used air quality monitoring data to examine whether mothers of children with ASD were exposed to high levels of air pollutants duri...

A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectua...

Disruptions in the MBD5 gene have been linked with an array of clinical features such as global developmental delay, intellectual disability, autistic-like symptoms, and seizures, through unclear mechanisms. MBD5 haploinsufficiency has been associated with the disruption of primary cilium-related processes during early cortical development, and this has been reported in many neurodevelopmental disorders. In thi...

Genomic imbalances defining novel intellectual disability associated loci

Background: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a...

Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

BACKGROUND: Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication in the annexin A1 (ANXA1) gene, identified by the Autism Genome Project (AGP) study. ...

MÓDULO 6 - 2º Curso de Formação para Internos 2013 - 2014:Desenvolvimento e Neu...

Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication in the annexin A1 (ANXA1) gene, identified by the Autism Genome Project (AGP) study.

MÓDULO 5 - Desenvolvimento e Neurologia

Pediatria do neurodesenvolvimento: levantamente nacional de recursos e necessid...

Pediatria do Neurodesenvolvimento. Levantamento Nacional de Recursos e Necessid...

As perturbações do neurodesenvolvimento são das patologias crónicas mais frequentes da infância e com tendência a aumentar nas sociedades modernas. Têm na grande maioria dos casos um percurso crónico e com limitação da aprendizagem necessária para a integração na sociedade de um modo autónomo. A Sociedade de Pediatria do Neurodesenvolvimento da Sociedade Portuguesa de Pediatria procedeu em 2008 e 2009 ao levant...