Frederico Duque
A5048358192- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Child Development and Digital Technology
- Attention Deficit Hyperactivity Disorder
- Virology and Viral Diseases
- Family and Disability Support Research
- Child Nutrition and Feeding Issues
- Genomics and Rare Diseases
- Congenital heart defects research
- Infant Development and Preterm Care
- Neonatal Respiratory Health Research
- Genetic and Kidney Cyst Diseases
- Gene Regulatory Network Analysis
- Functional Brain Connectivity Studies
- Bioinformatics and Genomic Networks
- Immunodeficiency and Autoimmune Disorders
- Cancer-related gene regulation
- CRISPR and Genetic Engineering
- Pneumocystis jirovecii pneumonia detection and treatment
- Cerebral Palsy and Movement Disorders
- S100 Proteins and Annexins
- RNA and protein synthesis mechanisms
- Williams Syndrome Research
- Energy and Environment Impacts
Hospitais da Universidade de Coimbra
2012-2023
University of Coimbra
2014-2023
Ricardo (United Kingdom)
2016
Instituto Gulbenkian de Ciência
2016
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed excess genic deletions duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) increase subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD intellectual disability (odds ratio 12.62, 2.7 10(-15), ∼3% subjects). Pathogenic CNVs, often showing variable expressivity,...
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known risk has been traced to rare variants, principally copy number variants (CNVs). To identify common variation, Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes association with ASD. In one four primary analyses, signal marker rs4141463, located within MACROD2, crossed genome-wide...
While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), contribution common to risk developing ASD less clear.To produce a more comprehensive picture, we report Stage 2 Autism Genome Project genome-wide association study, adding 1301 families and bringing total 2705 analysed (Stages 1 2).In addition evaluating individual single nucleotide polymorphisms (SNPs), also sought evidence variants, en masse, might affect...
Autism spectrum disorder (ASD) is a highly heritable of complex and heterogeneous aetiology. It primarily characterized by altered cognitive ability including impaired language communication skills fundamental deficits in social reciprocity. Despite some notable successes neuropsychiatric genetics, overall, the high heritability ASD (~90%) remains poorly explained common genetic risk variants. However, recent studies suggest that rare genomic variation, particular copy number may account for...
Although multiple reports show that defective genetic networks underlie the aetiology of autism, few have translated into pharmacotherapeutic opportunities. Since drugs compete with endogenous small molecules for protein binding, many successful target large gene families drug binding sites. Here we search family interaction (GFINs) in 6,742 patients ASDs relative to 12,544 neurologically normal controls, find potentially druggable targets. We significant enrichment structural defects (P ≤...
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 (SO2) has been suggested contribute the etiology Autism Spectrum Disorder (ASD). In this study, we used quality monitoring data examine whether mothers children with ASD were exposed high levels pollutants during critical periods pregnancy, if higher may lead a clinical severity in their offspring. We public from Portuguese...
Abstract Background The concomitant role of the Central Executive, Saliency and Social Cognition networks in autism spectrum disorder (ASD) demanding ecological tasks remains unanswered. We addressed this question using a novel task-based fMRI virtual-reality task mimicking challenging daily-life chore that may present some difficulties to individuals with ASD: EcoSupermarketX. Methods Participants included 29 adolescents: 15 ASD typical neurodevelopment (TD). They performed EcoSupermarketX...
Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies autism spectrum disorders (ASD) requires detailed assessment case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication annexin A1 (ANXA1) gene, by Autism Genome Project (AGP) study.From AGP CNV genomic screen 2,147 ASD individuals, selected for characterization an ANXA1 gene that was absent 4,964...
Objective The PARK2 gene encodes Parkin, a component of multiprotein E3 ubiquitin ligase complex that targets substrate proteins for proteasomal degradation. mutations are frequently associated with Parkinson's disease, but structural alterations have also been described in patients neurodevelopmental disorders (NDD), suggesting pathological effect ubiquitous to and neurodegenerative brain processes. present study aimed define the critical regions NDD within PARK2. Materials methods To...
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. haploinsufficiency has associated disruption primary cilium-related processes during early cortical development, this reported many neurodevelopmental disorders. In study, we describe history a 12-year-old child harboring novel rare variant presenting psychomotor delay seizures. To...
Executive functioning (EF) impairments in Autism Spectrum Disorder (ASD) impact on complex functions, such as social cognition. We assessed this link between EF, attentional cueing, and cognition with a novel ecological task, “EcoSupermarketX.” Our task had three blocks of increasing executive load incorporated non-social cues, different degrees saliency. Performance ASD typical neurodevelopment was compared. The showed significant performance dependence the presence contextual cues....
Neurodevelopmental disorders represent one of the most frequent chronic conditions in childhood, tending to increase modern society. These are cases and cause limitations learning needed for full social inclusion.
Social attention deficits represent a central impairment of patients suffering from autism spectrum disorder (ASD), but the nature such remains controversial. We compared visual regarding social (faces) vs. non-social stimuli (objects), in an ecological diagnostic context, 46 children and adolescents divided two groups: ASD ( N = 23) typical neurodevelopment (TD) 23), matched for chronological age intellectual performance. Eye-tracking measures scanning, while exploring describing scenes...
High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was identify genetic causes neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), a cohort 325 Portuguese patients with intellectual disability (ID). We have 30.1% the patients, which 5.2% corresponded...
Accurate prevalence estimates for Autism Spectrum Disorder (ASD) are fundamental to adequately program medical and educational resources children. However, vary globally across Europe, it is therefore wise conduct epidemiological studies in defined geo-cultural contexts.We used a population screening approach estimate the of ASD Centro region Portugal, using harmonized protocol as part Disorders European Union (ASDEU) project.The overall was estimated at 0.5% (95% CI 0.3-0.7), higher schools...
Introducao: O autismo e uma patologia complexa do neurodesenvolvimento, sem terapia curativa disponivel, consistindo o tratamento de base na planificacao educativa comportamental. recurso a farmacoterapia justifica-se quando existem comportamentos disruptivos, que interferem negativamente no sucesso educativo qualidade vida das criancas suas familias. Neste contexto, risperidona tornou-se antipsicotico mais vezes prescrito. Embora aparentemente segura eficaz, preocupacoes relacionadas com...