Publications by authors named "P I Jimenez-Gonzalez"
Sociodemographic factors have long been associated with disparities in autism spectrum disorder (ASD) diagnosis. Studies that identified spatial clustering of cases have suggested the importance of information about ASD moving through social networks of parents. Yet there is no direct evidence of this mechanism.
View Article and Find Full Text PDFIn the U.S., children with autism spectrum disorder (ASD) have been found to live in spatial clusters.
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- Rare copy-number variation (CNV) is a significant risk factor for autism spectrum disorders (ASDs), as shown by the analysis of 2,446 ASD-affected families, revealing higher rates of genic deletions and duplications in affected individuals compared to controls.
- Affected individuals showed a notable increase in pathogenic CNVs linked to specific ASD and intellectual disability loci, with implications for various neurodevelopmental genes, including CHD2 and SETD5.
- Additionally, females with ASD had a higher prevalence of potent CNVs and were overrepresented in categories associated with fragile X syndrome, highlighting potential gender-specific factors in CNV that influence ASD.
Background: The 15q24 microdeletion syndrome has been recently described as a recurrent, submicroscopic genomic imbalance found in individuals with intellectual disability, typical facial appearance, hypotonia, and digital and genital abnormalities. Gene dosage abnormalities, including copy number variations (CNVs), have been identified in a significant fraction of individuals with autism spectrum disorders (ASDs). In this study we surveyed two ASD cohorts for 15q24 abnormalities to assess the frequency of genomic imbalances in this interval.
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