23 documents found, page 1 of 3
Neurometabolic profiles of autism spectrum disorder patients with genetic varia...
Vilela, Joana; Pereira, Andreia C.; Violante, Inês R.; Mouga, Susana; Rasga, Célia; Santos, João Xavier; Martiniano, Hugo; Marques, Ana RitaAutism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by impaired social interaction, and restricted and repetitive patterns of behavior. ASD presents as a clinical spectrum, with variable levels of severity and multiple co-occurring conditions. The etiology of ASD may involve hundreds of genes and there is evidence that neurotransmitter and synaptic (NS) pathways are implicated. Proton...
Análise de uma rede de similaridade genética entre a perturbação do espetro do ...
Vilela, Joana; Martiniano, Hugo; Marques, Ana Rita; Santos, João Xavier; Rasga, Célia; Oliveira, Guiomar; Vicente, Astrid MouraA Perturbação do Espetro do Autismo (PEA) é uma perturbação do neurodesenvolvimento com apresentação clínica heterogénea, nível de gravidade variável e ocorrência de múltiplas comorbilidades. A PEA tem uma arquitetura genética complexa que se reflete na sua heterogeneidade clínica, existindo evidência de uma sobreposição de genes alterados entre esta condição e diversas comorbilidades do foro neurológico e neur...
Bridging genetic insights with neuroimaging in Autism Spectrum Disorder — A sys...
Vilela, Joana; Rasga, Célia; Santos, João Xavier; Martiniano, Hugo; Marques, Ana Rita; Oliveira, Guiomar; Vicente, Astrid Moura; Maria Rasga, CéliaAutism Spectrum Disorder (ASD) is an early onset neurodevelopmental disorder characterized by impaired social interaction and communication, and repetitive patterns of behavior. Family studies show that ASD is highly heritable, and hundreds of genes have previously been implicated in the disorder; however, the etiology is still not fully clear. Brain imaging and electroencephalography (EEG) are key techniques t...
Evidence for an association of prenatal exposure to particulate matter with cli...
Santos, João Xavier; Sampaio, Pedro; Rasga, Célia; Martiniano, Hugo; Faria, Clarissa; Café, Cátia; Oliveira, Alexandra; Duque, FredericoEarly-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...
Gene-environment interactions in Autism Spectrum Disorder (ASD)
Santos, João XavierAutism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental disorder characterized by deficits in social communication and interaction and repetitive and restricted behaviors. While heritability estimates support a role for gene-environment interactions in ASD etiology, there is a paucity of strategies that integrate both components. The objective of this work was to identify gene-environment interacti...
Prevalence of Autism Spectrum Disorder in the Centro region of Portugal: a popu...
Rasga, Célia; Santos, João Xavier; Café, Cátia; Oliveira, Alexandra; Duque, Frederico; Posada, Manuel; Nunes, Ana; Oliveira, GuiomarIntroduction: 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...
Identification of Neurotransmission and Synaptic Biological Processes Disrupted...
Vilela, Joana; Martiniano, Hugo; Marques, Ana Rita; Santos, João Xavier; Asif, Muhammad; Rasga, Célia; Oliveira, Guiomar; Vicente, Astrid MouraAutism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by communication deficits and repetitive behavioral patterns. Hundreds of candidate genes have been implicated in ASD, including neurotransmission and synaptic (NS) genes; however, the genetic architecture of this disease is far from clear. In this study, we seek to clarify the biological processes affected by NS gene variants identif...
Deletional alpha-thalassemia and hematological phenotype: predictive parameters...
Gaspar, Gisela; Ramalho, Rita de Mira; Seuanes, Filomena; Feliciano, Carla; Duarte, Guida; Copeto, Sandra; Costa, Alcina; Santos, João XavierIntroduction: Thalassemias are characterized by a quantitative imbalance of the globin chains due to the reduction or suppression of the synthesis of one of the globin chains.The hematological tests usually used as indicative for the investigation of α-thalassemia are the blood count with MCV (Mean Cell Volume) < 80 fL and/or MCH (Mean Cell Hemoglobin) < 27 pg and normal Hb A2 (< 3.5%). Aim: This study aimed to...
Prevalence of Autism Spectrum Disorder in the Centro region of Portugal: a popu...
Rasga, Célia; Santos, João Xavier; Café, Cátia; Oliveira, Alexandra; Duque, Frederico; Posada, Manuel; Nunes, Ana; Oliveira, GuiomarIntroduction: 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...
Gene-environment interactions in Autism Spectrum Disorder (ASD)
Santos, João XavierAutism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental disorder characterized by deficits in social communication and interaction and repetitive and restricted behaviors. While heritability estimates support a role for gene-environment interactions in ASD etiology, there is a paucity of strategies that integrate both components. The objective of this work was to identify gene-environment interacti...