Autism is a neuropsychiatric disorder with profound family and social consequences. An extraordinary number of genetical-clinical, cytogenetics and molecular studies were done in recent years. A multiloci epistatic model involved in the causation of autism have emerged from these studies.
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http://dx.doi.org/10.1590/s1516-44462004000400012 | DOI Listing |
Int J Mol Sci
December 2024
Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
(Fragile X messenger ribonucleoprotein 1), located on the X-chromosome, encodes the multi-functional FMR1 protein (FMRP), critical to brain development and function. Trinucleotide CGG repeat expansions at this locus cause a range of neurological disorders, collectively referred to as Fragile X-related conditions. The most well-known of these is Fragile X syndrome, a neurodevelopmental disorder associated with syndromic facial features, autism, intellectual disabilities, and seizures.
View Article and Find Full Text PDFDiagnostics (Basel)
December 2024
Genetics Department, Hospital Sant Joan de Déu, Member of ERN-ITHACA, 08950 Esplugues de Llobregat, Spain.
: duplication syndrome (MDS) (MIM#300260) is a rare X-linked neurodevelopmental disorder. This study aims to (1) develop a specific clinical severity scale, (2) explore its correlation with clinical and molecular variables, and (3) automate diagnosis using the Face2gene platform. : A retrospective study was conducted on genetically confirmed MDS patients who were evaluated at a pediatric hospital between 2012 and 2024.
View Article and Find Full Text PDFBrain Res
January 2025
Department of Chemistry and Biochemistry, Ohio University, Athens, OH, United States. Electronic address:
Autism spectrum disorder, or autism, is a neurodevelopmental disorder of the developing child's brain with a genetic causality. It can be diagnosed at about three years after birth when it begins to present itself via a range of neuropsychiatric symptoms. Nitric oxide is a crucial small molecule of life synthesized within cells of our body systems, including cells of our brain.
View Article and Find Full Text PDFJ Affect Disord
January 2025
Department of Anesthesiology, Shengjing Hospital of China Medical University, Shenyang 110004, China. Electronic address:
Background: Metabolomics research is a promising orientation for the diagnosis and intervention of several diseases, and observational studies have found many metabolic profiles to be associated with mental disorders. However, the causal relationship between plasma and cerebrospinal fluid (CSF) metabolites and mental disorders has not been established.
Methods: We identified independent genetic variants associated with plasma, CSF metabolites, and mental disorders from pooled data in the published Genome-wide association studies (GWASs) and performed Mendelian randomization (MR) to investigate causal relationships.
J Nerv Ment Dis
January 2025
Department of Psychology and Pedagogy, Kyiv International University, Kyiv, Ukraine.
The purpose of this study is to provide an in-depth examination of the complex aspects of hereditary and pathological conditions arising based on psychogenetic factors, in particular, the disclosure of elements that determine the causes of their appearance. The following methods were used in the study: analytical, typological approaches, and generalization. It was found that genetic inheritance plays a significant role in the occurrence of autism spectrum disorders, bipolar disorder, schizophrenia, and other pathologies.
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