Prepulse inhibition (PPI) may useful for exploring the proposed shared neurobiology between idiopathic autism and autism caused by FXS. We compared PPI in four groups: typically developing controls (n = 18), FXS and autism (FXS+A; n = 15), FXS without autism spectrum disorder (FXS-A; n = 17), and idiopathic autism (IA; n = 15). Relative to controls, the FXS+A (p < 0.002) and FXS-A (p < 0.003) groups had impaired PPI. The FXS+A (p < 0.01) and FXS-A (p < 0.03) groups had lower PPI than the IA group. Prolonged startle latency was seen in the IA group. The differing PPI profiles seen in the FXS+A and IA indicates these groups may not share a common neurobiological abnormality of sensorimotor gating.
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http://dx.doi.org/10.1007/s10803-010-1040-9 | DOI Listing |
iScience
January 2025
Zanvyl Krieger Mind/Brain Institute, Johns Hopkins University, Baltimore, MD, USA.
Alterations to the excitation/inhibition (E/I) ratio are postulated to underlie behavioral phenotypes in autism spectrum disorder (ASD) patients and mouse models. However, in wild type mice the E/I ratio is not constant, but instead oscillates across the 24-h day. Therefore, we tested whether E/I regulation, rather than the overall E/I ratio, is disrupted in two ASD-related mouse lines: KO and BTBR, models of syndromic and idiopathic ASD, respectively.
View Article and Find Full Text PDFACS Chem Neurosci
January 2025
Department of Life Sciences, University of Modena and Reggio Emilia, Via G. Campi 103-287, 41125 Modena, Italy.
-Cresol, an environmental contaminant and endogenous metabolite derived primarily from the conversion of l-tyrosine by intestinal microflora, is gaining increasing attention, due to its potential impact on human health. Recent studies have highlighted elevated levels of -cresol and its metabolites, including -cresyl sulfate and -cresyl glucuronide, in various populations, suggesting a correlation with neurodevelopmental and neurodegenerative conditions. While the role of this compound as a uremic toxin is well established, its presence and concentration within the central nervous system (CNS) remain largely unexplored.
View Article and Find Full Text PDFZhong Nan Da Xue Xue Bao Yi Xue Ban
August 2024
Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha 410008.
Objectives: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder. Prior research suggests that genetic susceptibility and environmental exposures, such as maternal preeclampsia (PE) during pregnancy, play key roles in ASD pathogenesis. However, the specific effects of the interaction between genetic and environmental factors on ASD phenotype severity remain unclear.
View Article and Find Full Text PDFBiol Psychiatry Glob Open Sci
January 2025
Biomedical Research Institute, Foundation for Research and Technology-Hellas, University Campus, Ioannina, Greece.
Background: The polygenic nature of autism spectrum disorder (ASD) requires the identification of converging genetic pathways during early development to elucidate its complexity and varied manifestations.
Methods: We developed a human cerebral organoid model from induced pluripotent stem cells with targeted genome editing to abolish protein expression of the ASD risk gene.
Results: CNTNAP2 cerebral organoids displayed accelerated cell cycle, ventricular zone disorganization, and increased cortical folding.
Sci Rep
January 2025
Departamento de Medicina Genómica y Toxicología Ambiental, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, 04510, Mexico City, Mexico.
Autism spectrum disorder (ASD) comprises alterations in brain anatomy and physiology that ultimately affect information processing and behavior. In most cases, autism is considered idiopathic, involving alterations in numerous genes whose functions are not extensively documented. We evaluated the C58/J mouse strain as an idiopathic model of ASD, emphasizing synaptic transmission as the basis of information processing.
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