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3 results on '"Doneddu, Giuseppe"'

1. A Statistical Physics Perspective to Understand Social Visual Attention in Autism Spectrum Disorder.

Author

Liberati, Alessio, Fadda, Roberta, Doneddu, Giuseppe, Congiu, Sara, Javarone, Marco A., Striano, Tricia, and Chessa, Alessandro

Abstract

This study investigated social visual attention in children with Autism Spectrum Disorder (ASD) and with typical development (TD) in the light of Brockmann and Geisel's model of visual attention. The probability distribution of gaze movements and clustering of gaze points, registered with eye-tracking technology, was studied during a free visual exploration of a gaze stimulus. A data-driven analysis of the distribution of eye movements was chosen to overcome any possible methodological problems related to the subjective expectations of the experimenters about the informative contents of the image in addition to a computational model to simulate group differences. Analysis of the eye-tracking data indicated that the scanpaths of children with TD and ASD were characterized by eye movements geometrically equivalent to Lévy flights. Children with ASD showed a higher frequency of long saccadic amplitudes compared with controls. A clustering analysis revealed a greater dispersion of eye movements for these children. Modeling of the results indicated higher values of the model parameter modulating the dispersion of eye movements for children with ASD. Together, the experimental results and the model point to a greater dispersion of gaze points in ASD [ABSTRACT FROM AUTHOR]

Published
2017
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2. An Overview of the Main Genetic, Epigenetic and Environmental Factors Involved in Autism Spectrum Disorder Focusing on Synaptic Activity.

Author

Masini, Elena, Loi, Eleonora, Vega-Benedetti, Ana Florencia, Carta, Marinella, Doneddu, Giuseppe, Fadda, Roberta, and Zavattari, Patrizia

Subjects
AUTISM spectrum disorders, EPIGENETICS, MICRORNA, SYNAPTOGENESIS, RNA methylation, EPIGENOMICS
Abstract

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects social interaction and communication, with restricted interests, activity and behaviors. ASD is highly familial, indicating that genetic background strongly contributes to the development of this condition. However, only a fraction of the total number of genes thought to be associated with the condition have been discovered. Moreover, other factors may play an important role in ASD onset. In fact, it has been shown that parental conditions and in utero and perinatal factors may contribute to ASD etiology. More recently, epigenetic changes, including DNA methylation and micro RNA alterations, have been associated with ASD and proposed as potential biomarkers. This review aims to provide a summary of the literature regarding ASD candidate genes, mainly focusing on synapse formation and functionality and relevant epigenetic and environmental aspects acting in concert to determine ASD onset. [ABSTRACT FROM AUTHOR]

Published
2020
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3. Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene

Author

G. Doneddu, Eleonora Loi, Elena Bacchelli, Loredana Moi, Roberta Fadda, Antonio Fadda, Cinzia Cameli, Rita Chessa, Patrizia Zavattari, Elena Maestrini, Sandra Mattu, Ana Florencia Vega-Benedetti, Elena Bonora, Sylvain Blois, Bacchelli, Elena, Loi, Eleonora, Cameli, Cinzia, Moi, Loredana, Benedetti, Ana Florencia Vega, Blois, Sylvain, Fadda, Antonio, Bonora, Elena, Mattu, Sandra, Fadda, Roberta, Chessa, Rita, Maestrini, Elena, Doneddu, Giuseppe, and Zavattari, Patrizia

Subjects
Candidate gene, postsynaptic density proteins, lcsh:Medicine, Single-nucleotide polymorphism, autism spectrum disorder, ASD, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, mental disorders, Missense mutation, Medicine, Copy-number variation, Gene, Loss function, Exome sequencing, 030304 developmental biology, Genetics, 0303 health sciences, business.industry, lcsh:R, General Medicine, PSD proteins, CAPG, VDAC3, business, 030217 neurology & neurosurgery, PSD protein
Abstract

Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders with high heritability, although their underlying genetic factors are still largely unknown. Here we present a comprehensive genetic characterization of two ASD siblings from Sardinia by genome-wide copy number variation analysis and whole exome sequencing (WES), to identify novel genetic alterations associated with this disorder. Single nucleotide polymorphism (SNP) array data revealed a rare microdeletion involving CAPG, ELMOD3, and SH2D6 genes, in both siblings. CAPG encodes for a postsynaptic density (PSD) protein known to regulate spine morphogenesis and synaptic formation. The reduced CAPG mRNA and protein expression levels in ASD patients, in the presence of hemizygosity or a particular genetic and/or epigenetic background, highlighted the functional relevance of CAPG as a candidate gene for ASD. WES analysis led to the identification in both affected siblings of a rare frameshift mutation in VDAC3, a gene intolerant to loss of function mutation, encoding for a voltage-dependent anion channel localized on PSD. Moreover, four missense damaging variants were identified in genes intolerant to loss of function variation encoding for PSD proteins: PLXNA2, KCTD16, ARHGAP21, and SLC4A1. This study identifies CAPG and VDAC3 as candidate genes and provides additional support for genes encoding PSD proteins in ASD susceptibility.

Published
2019

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