Infantile autism is a syndrome of unknown aetiology and unknown neuro-anatomic substrate. The authors report a histological study of the brain of a well-documented 16-year-old female with autistic syndrome and severe mental retardation, using direct microscopic examination of the whole brain. The major findings are low brain weight, a thin corpus callosum and ventricular dilatation. No abnormalities were found in the hippocampus or cerebellum. Excessive axonal elimination during brain development is hypothesized. The relations of hypothetical developmental events with the clinical features of autistic syndrome are discussed.
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http://dx.doi.org/10.1111/j.1469-8749.1996.tb15082.x | DOI Listing |
PLoS 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 PDFAm J Speech Lang Pathol
January 2025
Waisman Center, University of Wisconsin-Madison.
Purpose: Joint attention predicts later language in Down syndrome (DS) and autism. The co-occurrence of autism in children with DS is 6%-19%, which is higher than in the general population. However, little is known about how co-occurring autism in DS impacts the development of joint attention.
View Article and Find Full Text PDFPsychopharmacol Bull
January 2025
Alamiri, MD, ABPN, ScD, Al-Manara CAP Centre, Kuwait Centre for Mental Health (KCMH), Shuwaikh, State of Kuwait.
Herein, authors report on an ASD child with comorbid ADHD, ID, metabolic syndrome and nocturnal enuresis that failed multiple trials of psychotropic agents for behavioural dyscontrol. Viloxazine adjuventia brought about remarkable improvement spanning different domains. Purported pharmacodynamic mechanisms are briefly discussed.
View Article and Find Full Text PDFSci Rep
December 2024
Department of Nutrition, Department of Food Science and Technology, University of California, One Shields Avenue, Davis, CA, 95616, USA.
Developmental delays have been associated with metabolic disturbances in children. Previous research in the childhood autism risk from genetics and the environment (CHARGE) case-control study identified neurodevelopment-related plasma metabolites in children, suggesting disturbances in the energy-related tricarboxylic acid (TCA) cycle and 1-carbon metabolism (1CM). Here, we investigated associations between children's neurodevelopmental outcomes and their mothers' plasma metabolite profiles in a subset of mother-child dyads from CHARGE, including those with autism spectrum disorder (ASD, n = 209), Down syndrome (DS, n = 76), idiopathic developmental delay (iDD, n = 64), and typically developed (TD, n = 185) controls.
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