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Processsing pmouse and mousex5/1/2023 Some studies suggested that they provide spatiotemporal visual processing alterations, such as reduced contrast sensitivity for visual stimuli presented at high temporal frequencies as well as altered visual sensitivity for both static (texture difference) and moving stimuli ( Kogan et al., 2004b Farzin et al., 2008). Besides, FXS patients also present abnormal sensory processing named sensory hypersensitivity ( Minshew et al., 1997 Baron-Cohen et al., 2009), characterized by early life strong aversion for visual social contact (over 90% of FXS children), tactile contact or increased noise sensitivity ( Lachiewicz et al., 1994 Merenstein et al., 1996).Īmong sensory impairments, vision seems particularly affected in FXS patients. This FMRP defect leads to numerous synaptic protein alterations ( Liao et al., 2008 Klemmer et al., 2011), neuronal dendrite spine immaturity and brain synaptic impairments ( Vanderklish and Edelman, 2005 Liao et al., 2008) and thus to cognitive, communication, social and behavioral impairments ( Pietropaolo et al., 2011). FXS is caused by the absence of Fragile X Mental Retardation Protein (FMRP) due to transcriptional silencing of the Fragile X Mental Retardation 1 ( FMR1) gene. This X-linked disorder is characterized by moderate to severe mental retardation, autistic-like behavior, facial abnormalities and macroorchidism ( Penagarikano et al., 2007 Hagerman et al., 2017). Altogether, these results underline the significance of visual behavior alterations in FXS conditions and relevance of assessing visual skills in neuropsychiatric models before performing behavioral tasks, such as cognitive assessments, that involve visual discrimination.įragile X Syndrome (FXS) is the most common inherited form of human intellectual disability (ID) affecting approximately 1 in 4,000 males ( Penagarikano et al., 2007 Abrahams and Geschwind, 2008 Hunter et al., 2014). Besides, we report that color and shape are meaningful for the achievement of a cognitive test involving object recognition. Interestingly, Fmr1 −/y phenotypes remain stable over time from adolescence to late adulthood. We show that Fmr1 −/y mice exhibit alteration in their visual skills, displaying impaired perspective perception, a drop in their ability to understand a moving contrasted pattern, and a defect in contrasts discrimination. We performed specific tests (Optomotor Drum, Visual Cliff) to evaluate these visual modalities, their evolution from youth to adulthood, and to assess their involvement in a cognitive task. In this study, we used male Fmr1 −/y mice to further define visual disturbances from a behavioral perspective by focusing on three traits characterizing visual modality: perception of depth, contrasts and movements. However, behavioral consequences of these defects remain unknown. In the absence of Fragile Mental Retardation Protein (FMRP), both retinal and cerebral structures of the visual pathway are impaired, suggesting that perception and integration of visual stimuli are altered. 4Department of Genetics, Regional Hospital, Orléans, Franceįragile X Syndrome (FXS), the most common inherited form of human intellectual disability (ID) associated with autistic-like behaviors, is characterized by dys-sensitivity to sensory stimuli, especially vision.2Experimental and Molecular Immunology and Neurogenetics, University of Orléans, Orléans, France. ![]() ![]() Chloé Felgerolle 1,2†, Betty Hébert 1,2†, Maryvonne Ardourel 1,2, Géraldine Meyer-Dilhet 1,2, Arnaud Menuet 1,2, Kimberley Pinto-Morais 1,2, Jean-Charles Bizot 3, Jacques Pichon 1,2, Sylvain Briault 1,2,4 and Olivier Perche 1,2,4*
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