As a consequence of frequent limbic alterations, autistic persons could judge pleasant and unpleasant music in an unusual manner. We explored this possibility by using consonant and dissonant music (test 2) and excluded the eventuality that they could prefer other auditory stimuli by comparing familiar music to environmental sounds (test 1). In both tests, severe autistics and controls were asked to listen under two conditions (familiar music versus environmental sounds; pleasant versus unpleasant music) in a counterbalanced order while the time spent during each condition was measured. Both groups significantly preferred the musical task and the pleasant music condition. No difference between groups was detected. Results demonstrate that severely autistic subjects share with healthy people the same musical preferences.
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http://dx.doi.org/10.1111/j.1749-6632.2009.04853.x | DOI Listing |
Int J Dev Neurosci
February 2025
Faculty of Health Sciences, Department of Biomedical Sciences, State University of Rio Grande do Norte, Mossoró, Rio Grande do Norte, Brazil.
Autism spectrum disorder (ASD) is a complex challenge, influenced by genetic and environmental factors. This review focuses on the proteins calbindin (CB), calretinin (CR) and parvalbumin (PV) in the context of ASD, exploring their clinical correlations and providing a deeper understanding of the spectrum. In addition, we seek to understand the role of these proteins in GABAergic regulation and their implication in the pathophysiology of ASD.
View Article and Find Full Text PDFPLoS One
January 2025
Department of Psychiatry, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY, United States of America.
Novel denovo variants of exome sequences are major cause of pathogenic neurodevelopmental disorders with a dominant genetic mechanism that emphasize their heterogeneity and complex phenotypes. White Sutton syndrome and Gabriele-de-Vries syndrome are congenital neuro-impairments with overlap of severe intellectual disability, microcephaly, convulsions, seizures, delayed development, dysmorphism of faces, retinal diseases, movement disorders and autistic traits. POGZ gene codes for pogo transposable element-derived zinc-finger protein and YY1 gene regulates transcription, chromatin, and RNA-binding proteins that have been associated with White Sutton and Gabriele-de-Vries syndromes, in recent data.
View Article and Find Full Text PDFNat Commun
January 2025
Department of Pediatrics and Department of Developmental Biology, University of Pittsburgh, Pittsburgh, USA.
Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease associated with microcephaly and poor neurodevelopmental outcomes. Here we show that the Ohia HLHS mouse model, with mutations in Sap130, a chromatin modifier, and Pcdha9, a cell adhesion protein, also exhibits microcephaly associated with mitotic block and increased apoptosis leading to impaired cortical neurogenesis. Transcriptome profiling, DNA methylation, and Sap130 ChIPseq analyses all demonstrate dysregulation of genes associated with autism and cognitive impairment.
View Article and Find Full Text PDFBMC Med
January 2025
Lurie Center for Autism, Massachusetts General Hospital, Lexington, MA, 02421, USA.
Background: The prevalence of autism spectrum disorder (ASD) has surged, with an estimated 1 in 36 eight-year-olds in the United States meeting criteria for ASD in 2020. Autistic individuals face elevated rates of co-occurring medical, psychiatric, and behavioral conditions compared to non-autistic individuals. The rising ASD-patient demand is increasingly outpacing the capacity of ASD-specialty clinics, resulting in urgent need for autism-competent providers in general practice settings.
View Article and Find Full Text PDFGut Microbes
December 2025
Université Paris-Saclay, INRAE, AgroParisTech, Micalis Institute, Jouy-en-Josas, France.
Several factors are linked to the pathophysiology of autism spectrum disorders (ASD); however, the molecular mechanisms of the condition remain unknown. As intestinal problems and gut microbiota dysbiosis are associated with ASD development and severity, recent studies have focused on elucidating the microbiota-gut-brain axis' involvement. This study aims to explore mechanisms through which gut microbiota might influence ASD.
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