15 documents found, page 1 of 2
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...
Design and Implementation of a Collaborative Clinical Practice and Research Doc...
Direito, Bruno; Santos, André; Mouga, Susana; Lima, João; Brás, Paulo; Oliveira, Guiomar; Castelo-Branco, MiguelThis paper introduces a prototype for clinical research documentation using the structured information model HL7 CDA and clinical terminology (SNOMED CT). The proposed solution was integrated with the current electronic health record system (EHR-S) and aimed to implement interoperability and structure information, and to create a collaborative platform between clinical and research teams. The framework also aim...
Parahippocampal deactivation and hyperactivation of central executive, saliency...
Mouga, Susana; Duarte, Isabel Catarina; Café, Cátia; Sousa, Daniela; Duque, Frederico; Oliveira, Guiomar; Castelo-Branco, MiguelThe concomitant role of the Central Executive, the Saliency and the Social Cognition networks in autism spectrum disorder (ASD) in demanding ecological tasks remains unanswered. We addressed this question using a novel task-based fMRI virtual-reality task mimicking a challenging daily-life chore that may present some difficulties to individuals with ASD: the EcoSupermarketX.; This research was supported by the ...
Social Attention Deficits in Children With Autism Spectrum Disorder: Task Depen...
Mouga, Susana; Castelhano, João; Café, Cátia; Sousa, Daniela; Duque, Frederico; Oliveira, Guiomar; Castelo-Branco, MiguelSocial attention deficits represent a central impairment of patients suffering from autism spectrum disorder (ASD), but the nature of such deficits remains controversial. We compared visual attention regarding social (faces) vs. non-social stimuli (objects), in an ecological diagnostic context, in 46 children and adolescents divided in two groups: ASD (N = 23) and typical neurodevelopment (TD) (N = 23), matched...
Attentional Cueing and Executive Deficits Revealed by a Virtual Supermarket Tas...
Mouga, Susana; Duarte, Isabel Catarina; Café, Cátia; Sousa, Daniela; Duque, Frederico; Oliveira, Guiomar; Castelo-Branco, MiguelExecutive 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 social cognition with a novel ecological task, "EcoSupermarketX." Our task had three blocks of increasing executive load and incorporated social and non-social cues, with different degrees of saliency. Performance of ASD and typ...
A Feasibility Clinical Trial to Improve Social Attention in Autistic Spectrum D...
Amaral, Carlos; Mouga, Susana; Simões, Marco; Pereira, Helena C.; Bernardino, Inês; Quental, Hugo; Playle, Rebecca; McNamara, Rachel; Oliveira, GuiomarDeficits in the interpretation of others' intentions from gaze-direction or other social attention cues are well-recognized in ASD. Here we investigated whether an EEG brain computer interface (BCI) can be used to train social cognition skills in ASD patients. We performed a single-arm feasibility clinical trial and enrolled 15 participants (mean age 22y 2m) with high-functioning ASD (mean full-scale IQ 103). P...
A Novel Biomarker of Compensatory Recruitment of Face Emotional Imagery Network...
Simões, Marco; Monteiro, Raquel; Andrade, João; Mouga, Susana; França, Felipe; Oliveira, Guiomar; Carvalho, Paulo; Castelo-Branco, MiguelImagery of facial expressions in Autism Spectrum Disorder (ASD) is likely impaired but has been very difficult to capture at a neurophysiological level. We developed an approach that allowed to directly link observation of emotional expressions and imagery in ASD, and to derive biomarkers that are able to classify abnormal imagery in ASD. To provide a handle between perception and action imagery cycles it is im...
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder ...
Oliveira, Guiomar; Mouga, Susana; Duque, Frederico; Café, Cátia; Almeida, JoanaBackground: Over the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried by the true risk variants and the corresponding statistical power to observe such effects given the study design and sample size under investigation. Previous ASD GWAS have identified genome...
Polygenic transmission disequilibrium confirms that common and rare variation a...
Weiner, Daniel J.; Wigdor, Emilie M.; Ripke, Stephan; Walters, Raymond K.; Kosmicki, Jack A.; Grove, Jakob; Samocha, Kaitlin E.Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel approach called the polygenic transmission disequilibrium test and data from 6,454 families with a child with ASD, ...
Os efeitos da risperidona nos níveis de prolactina numa amostra de crianças e a...
João Tarroso, Maria; Almeida, Joana; Lontro, Raquel; Marques, Carla; S Miguel, Teresa; Lobo, Cristina; Café, Cátia; Mouga, Susana; Lapa, LígiaIntrodução: O autismo é uma patologia complexa do neurodesenvolvimento, sem terapia curativa disponível, consistindo o tratamento de base na planificação educativa e comportamental. O recurso à farmacoterapia justifica-se quando existem comportamentos disruptivos, que interferem negativamente no sucesso educativo e na qualidade de vida das crianças e suas famílias. Neste contexto, a risperidona tornou-se o anti...