Maria Isabel Carreno-Munoz

Maria Isabel Carreno-Munoz
Université de Montréal | UdeM · Sainte-Justine University Hospital Center Research Center

PhD

About

8
Publications
1,247
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29
Citations

Publications

Publications (8)
Article
Amongst the numerous genes associated with intellectual disability, SYNGAP1 stands out for its frequency and penetrance of loss-of-function variants found in patients, as well as the wide range of co-morbid disorders associated with its mutation. Most studies exploring the pathophysiological alterations caused by Syngap1 haploinsufficiency in mouse...
Article
Full-text available
Behavioral phenotyping devices have been successfully used to build ethograms, but many aspects of behavior remain out of reach of available phenotyping systems. We now report on a novel device, which consists in an open-field platform resting on highly sensitive piezoelectric (electromechanical) pressure-sensors, with which we could detect the sli...
Poster
Parvalbumin (PV)-positive GABAergic interneurons constitute the majority of interneurons in the cortex and play a key role in the function and synchronization of cortical networks. Alterations in PV-interneuron connectivity, especially in the medial prefrontal cortex (mPFC), have been found in different psychiatric disorders. We have previously sho...
Preprint
Full-text available
Amongst the numerous genes associated with intellectual disability, SYNGAP1 stands out for its frequency and penetrance of loss-of-function variants found in patients, as well as the wide range of co-morbid disorders associated with its mutation. Most studies exploring the pathophysiological alterations caused by Syngap1 haploinsufficiency in mouse...
Preprint
Full-text available
Behavioral phenotyping devices have been successfully used to build ethograms, but studying the temporal dynamics of individual movements during spontaneous, ongoing behavior, remains a challenge. We now report on a novel device, the Phenotypix, which consists in an open-field platform resting on highly sensitive piezoelectric (electro-mechanical)...
Thesis
Le développement d'outils de phénotypage comportemental sophistiqués est indispensable pour comprendre le fonctionnement cognitif. A partir d'une analyse élaborée de tests comportementaux classiques, mes résultats suggèrent que l'hypersensibilité sensorielle associée à un canal potassique spécifique (BkCa) participe aux divers troubles comportement...
Article
Full-text available
In Fragile X Syndrome (FXS), sensory-hypersensitivity and impaired habituation is thought to result in attention overload and various behavioral abnormalities in reaction to the excessive and remanent salience of environment-features that would normally be ignored. This phenomenon, termed sensory defensiveness, has been proposed as the potential ca...
Conference Paper
Animal behavior is usually assessed by categorical classification. Here we used an alternative approach, based on the global quantification of video and pressure sensor derived signals, in order to characterize normal and pathological mouse behavior. Freely moving mice were recorded for 1h in a novel open field environment. In this preliminary stud...

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Projects

Project (1)
Project
Autism-spectrum disorder (ASD) is a range of neurodevelopmental disorders characterized by impaired social interaction, stereotyped behaviours, cognitive impairments and sensory deficits. While there are hundreds of genes involved in ASD, SYNGAP1 gene is particularly gaining attention because of the frequency and penetrance of loss-of-function variants found in patients as well as the wide range of co-morbid brain disorders associated with SYNGAP1 pathogenicity. In both human patients and animal models, SYNGAP1 haploinsufficiency leads to cognitive and social problems, altered neural circuit excitability, spontaneous seizure and unadaptative behaviours. Until now, most of the research on the deficits caused by SYNGAP1 haploinsufficiency has focused on cognitive problems but recent works point to the possibility that altered sensory processing may strongly contribute to cognitive problems and other altered behaviours associated with ASD. Indeed, sensory symptoms are becoming an important early biomarker, since they are often documented as early as 6 months of age in infants later diagnosed with ASD (considerably earlier than development of other higher cognitive functions as attention). Although sensory processing and sensitivity problems have been largely reported in ASD, whether auditory and visual perception and processing are altered in SYNGAP1 haploinsufficiency is not known. In Dr Di-Cristo's lab and through a tight collaboration with Sarah Lippe's lab I study different aspects of auditory and visual perception in patients and a mouse model of SYNGAP1 haploinsufficiency.