Neuropathological study of a case of autistic syndrome with severe mental retardation.

Dev Med Child Neurol

INSERM Unite 316, CHU Bretonneau, Département de Psychopathologie de l'Enfant et de Neurophysiologie de Développement, Tours, France.

Published: March 1996

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.

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1469-8749.1996.tb15082.xDOI Listing

Publication Analysis

Top Keywords

autistic syndrome
12
syndrome severe
8
severe mental
8
mental retardation
8
neuropathological study
4
study case
4
case autistic
4
syndrome
4
retardation infantile
4
infantile autism
4

Similar Publications

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 PDF

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 PDF

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 PDF

Early Positive Report of Viloxazine for a Child with Hyperkinetic Autism.

Psychopharmacol 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 PDF

Metabolomics of mothers of children with autism, idiopathic developmental delay, and Down syndrome.

Sci 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.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!