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39 results on '"Fadda, Roberta"'

4. How access to language affects contamination sensitivity : a study of food rejection behaviour in children with autism spectrum disorders

Author

Fadda, Roberta, Siegal, Michael, and Overton, Paul G.

Subjects
618.92
Abstract

To investigate the role of language in the emergence of contamination sensitivity, we studied food rejection behaviour in children with Autism Spectrum Disorders (ASD), who are known to be impoverished in language and communication. In Study 1, we demonstrated that contamination sensitivity is lacking in a subgroup of children with ASD but not in the majority of typically developing children (TD) or children with learning disabilities, who refused to drink juice that had been in contact with an insect. In Study 2, we established that the lack of contamination sensitivity found in a subgroup of children with ASD is linked to a deficit in auditory processing. In Study 3, using an eye-tracking paradigm, we explored to what extent the subgroup of children with ASD who lack contamination sensitivity in behavioral tasks are implicitly sensitive to contaminants. The results showed that TD children and children with ASD possessing contamination sensitivity had a looking preference for an uncontaminated drink in sharp contrast to children with ASD who did not possess contamination sensitivity. Moreover, TD children and children with ASD possessing contamination sensitivity showed a dilation in pupil size in response to a contaminant, while the subgroup of ASD children who lack contamination sensitivity didn't show this reaction. Finally, in Study 4 we investigated the effect of language on implicit contamination sensitivity, by pairing explicit linguistic information about contaminants with the visual stimuli used in Study 3. The results showed that, while TD children and children with ASD with contamination sensitivity were sensitive to language, children with ASD who lack contamination sensitivity ignored such messages. However, pupil size increased also in the subgroup of children with ASD who lacked contamination sensitivity, even though of a less extent compared to the children of the other groups. As the two subgroups of ASD children in Study 3 and 4 did not differ in verbal and nonverbal mental age and Theory of Mind, but only in auditory processing (which was lower in ASD without contamination sensitivity), access to language seems to play a major role in contamination sensitivity.

Published
2012

19. Bilingualism in Sardinia and Scotland: exploring the cognitive benefits of speaking a 'minority' language

Author

Lauchlan, Fraser, Parisi, Marinella, and Fadda, Roberta

Subjects
Psychological Corp., Book publishing, Languages and linguistics, Social sciences
Abstract

Abstract The research reports on a study investigating the cognitive benefits of bilingualism in children who speak the minority languages of Sardinian and Scottish Gaelic, in addition to their respective [...]

Published
2013
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27. 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

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

Published
2019
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29. ELMOD3‐SH2D6 gene fusion as a possible co‐star actor in autism spectrum disorder scenario.

Author

Loi, Eleonora, Moi, Loredana, Blois, Sylvain, Bacchelli, Elena, Vega Benedetti, Ana Florencia, Cameli, Cinzia, Fadda, Roberta, Maestrini, Elena, Carta, Marinella, Doneddu, Giuseppe, and Zavattari, Patrizia

Subjects
AUTISM spectrum disorders, GENE fusion, DNA copy number variations, GENETIC regulation, CHIMERIC proteins, 22Q11 deletion syndrome
Abstract

Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by high heritability. It is known that genetic factors contribute to ASD pathogenesis. In particular, copy number variants (CNVs) are involved in ASD susceptibility and can affect gene expression regulation. 2p11.2 microdeletions encompassing ELMOD3, CAPG and SH2D6 genes have been described in four unrelated ASD families. The present study revealed that this microdeletion is responsible for the production of a chimeric transcript generated from the fusion between ELMOD3 and SH2D6. The identified transcript showed significantly higher expression levels in subjects carrying the deletion compared to control subjects, suggesting that it is not subjected to nonsense‐mediated decay and might encode for a chimeric protein. In conclusion, this study suggests the possible involvement of this gene fusion, together with the other previously identified variants, in ASD. [ABSTRACT FROM AUTHOR]

Published
2020
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37. 1.9 THE PSYCHOMETRIC PROPERTIES OF THE PATERNAL FEEDING AND PLAY SCALES.

Author

Sechi, Cristina, Vismara, Laura, Fadda, Roberta, Chatoor, Irene, and Lucarelli, Loredana

Subjects
*ANIMAL feeding, *INGESTION disorders, *FATHER-infant relationship
Abstract

More recently, several studies have emphasized the value of the quality of father-infant early interactions to comprehend how fathers' interactions may contribute to a child's cognitive and affective development. However, most observational tools are created for assessing mother-infant interactions, and there is little empirical research that has analyzed the psychometric properties of these tools in fathers. In addition, we examined the association between father-infant feeding interaction and father-infant play interaction, as well as the effect of the infant's gender on father-infant feeding and play interactions. [Extracted from the article]

Published
2019
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38. 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

39. Contamination sensitivity and the development of disease-avoidant behaviour.

Author

Siegal M, Fadda R, and Overton PG

Subjects
Child, Preschool, Culture, Humans, Cognition, Communicable Diseases psychology, Disease Transmission, Infectious prevention & control, Social Behavior
Abstract

Owing to their developing cognitive abilities and their limited knowledge about the biological basis of illness, children often have less expertise at disease avoidance than adults. However, affective reactions to contaminants through the acquisition of disgust and the social and cultural transmissions of knowledge about contamination and contagion provide impetus for children to learn effective disease-avoidant behaviours early in their development. In this article, we review the ontogenetic development of knowledge about contamination and contagion with particular attention to the role of socialization and culture. Together with their emerging cognitive abilities and affective reactions to contaminants, informal and formal cultural learning shape children's knowledge about disease. Through this process, the perceptual cues of contamination are linked to threats of disease outcomes and can act as determinants of disease-avoidant behaviours.

Published
2011
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