Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders / Eleonora NAPOLI in Journal of Autism and Developmental Disorders, 48-2 (February 2018)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 48-2 (February 2018) . - p.442-449 Titre : Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders Type de document : texte imprimé Auteurs : Eleonora NAPOLI, Auteur ; Serena RUSSO, Auteur ; Laura CASULA, Auteur ; Viola ALESI, Auteur ; Filomena Alessandra AMENDOLA, Auteur ; Adriano ANGIONI, Auteur ; Antonio NOVELLI, Auteur ; Giovanni VALERI, Auteur ; Deny MENGHINI, Auteur ; Stefano VICARI, Auteur Article en page(s) : p.442-449 Langues : Anglais (eng) Mots-clés : Asd  CNVs  Children  Clinical phenotype  Cognitive development  Genetic investigation Index. décimale : PER Périodiques Résumé : Copy-number variants (CNVs) are associated with susceptibility to autism spectrum disorder (ASD). To detect the presence of CNVs, we conducted an array-comparative genomic hybridization (array-CGH) analysis in 133 children with "essential" ASD phenotype. Genetic analyses documented that 12 children had causative CNVs (C-CNVs), 29 children had non-causative CNVs (NC-CNVs) and 92 children without CNVs (W-CNVs). Results on clinical evaluation showed no differences in cognitive abilities among the three groups, and a higher number of ASD symptoms and of non-verbal children in the C-CNVs group compared to the W-CNVs and NC-CNVs groups. Our results highlighted the importance of the array-CGH analyses and showed that the presence of specific CNVs may differentiate clinical outputs in children with ASD. En ligne : https://doi.org/10.1007/s10803-017-3329-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=337 [article] Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders [texte imprimé] / Eleonora NAPOLI, Auteur ; Serena RUSSO, Auteur ; Laura CASULA, Auteur ; Viola ALESI, Auteur ; Filomena Alessandra AMENDOLA, Auteur ; Adriano ANGIONI, Auteur ; Antonio NOVELLI, Auteur ; Giovanni VALERI, Auteur ; Deny MENGHINI, Auteur ; Stefano VICARI, Auteur . - p.442-449. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 48-2 (February 2018) . - p.442-449 Mots-clés : Asd  CNVs  Children  Clinical phenotype  Cognitive development  Genetic investigation Index. décimale : PER Périodiques Résumé : Copy-number variants (CNVs) are associated with susceptibility to autism spectrum disorder (ASD). To detect the presence of CNVs, we conducted an array-comparative genomic hybridization (array-CGH) analysis in 133 children with "essential" ASD phenotype. Genetic analyses documented that 12 children had causative CNVs (C-CNVs), 29 children had non-causative CNVs (NC-CNVs) and 92 children without CNVs (W-CNVs). Results on clinical evaluation showed no differences in cognitive abilities among the three groups, and a higher number of ASD symptoms and of non-verbal children in the C-CNVs group compared to the W-CNVs and NC-CNVs groups. Our results highlighted the importance of the array-CGH analyses and showed that the presence of specific CNVs may differentiate clinical outputs in children with ASD. En ligne : https://doi.org/10.1007/s10803-017-3329-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=337

Evidence of reactive oxygen species-mediated damage to mitochondrial DNA in children with typical autism / Eleonora NAPOLI in Molecular Autism, (January 2013)  

Public ISBD [article]  inMolecular Autism > (January 2013) . - 8 p. Titre : Evidence of reactive oxygen species-mediated damage to mitochondrial DNA in children with typical autism Type de document : texte imprimé Auteurs : Eleonora NAPOLI, Auteur ; Sarah WONG, Auteur ; Cecilia GIULIVI, Auteur Année de publication : 2013 Article en page(s) : 8 p. Mots-clés : Autism  Mitochondria  Mitochondrial DNA  Oxidative damage  Bioenergetics Index. décimale : PER Périodiques Résumé : BACKGROUND:The mitochondrial genome (mtDNA) is particularly susceptible to damage mediated by reactive oxygen species (ROS). Although elevated ROS production and elevated biomarkers of oxidative stress have been found in tissues from children with autism spectrum disorders, evidence for damage to mtDNA is lacking.FINDINGS:mtDNA deletions were evaluated in peripheral blood monocytic cells (PBMC) isolated from 2-5 year old children with full autism (AU; n = 67), and typically developing children (TD; n = 46) and their parents enrolled in the CHildhood Autism Risk from Genes and Environment study (CHARGE) at University of California Davis. Sequence variants were evaluated in mtDNA segments from AU and TD children (n = 10; each) and their mothers representing 31.2% coverage of the entire human mitochondrial genome. Increased mtDNA damage in AU children was evidenced by (i) higher frequency of mtDNA deletions (2-fold), (ii) higher number of GC-AT transitions (2.4-fold), being GC preferred sites for oxidative damage, and (iii) higher frequency of G,C,T-A transitions (1.6-fold) suggesting a higher incidence of polymerase gamma incorporating mainly A at bypassed apurinic/apyrimidinic sites, probably originated from oxidative stress. The last two outcomes were identical to their mothers suggesting the inheritance of a template consistent with increased oxidative damage, whereas the frequency of mtDNA deletions in AU children was similar to that of their fathers.CONCLUSIONS:These results suggest that a combination of genetic and epigenetic factors, taking place during perinatal periods, results in a mtDNA template in children with autism similar to that expected for older individuals. En ligne : http://dx.doi.org/10.1186/2040-2392-4-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 [article] Evidence of reactive oxygen species-mediated damage to mitochondrial DNA in children with typical autism [texte imprimé] / Eleonora NAPOLI, Auteur ; Sarah WONG, Auteur ; Cecilia GIULIVI, Auteur . - 2013 . - 8 p. in Molecular Autism > (January 2013) . - 8 p. Mots-clés : Autism  Mitochondria  Mitochondrial DNA  Oxidative damage  Bioenergetics Index. décimale : PER Périodiques Résumé : BACKGROUND:The mitochondrial genome (mtDNA) is particularly susceptible to damage mediated by reactive oxygen species (ROS). Although elevated ROS production and elevated biomarkers of oxidative stress have been found in tissues from children with autism spectrum disorders, evidence for damage to mtDNA is lacking.FINDINGS:mtDNA deletions were evaluated in peripheral blood monocytic cells (PBMC) isolated from 2-5 year old children with full autism (AU; n = 67), and typically developing children (TD; n = 46) and their parents enrolled in the CHildhood Autism Risk from Genes and Environment study (CHARGE) at University of California Davis. Sequence variants were evaluated in mtDNA segments from AU and TD children (n = 10; each) and their mothers representing 31.2% coverage of the entire human mitochondrial genome. Increased mtDNA damage in AU children was evidenced by (i) higher frequency of mtDNA deletions (2-fold), (ii) higher number of GC-AT transitions (2.4-fold), being GC preferred sites for oxidative damage, and (iii) higher frequency of G,C,T-A transitions (1.6-fold) suggesting a higher incidence of polymerase gamma incorporating mainly A at bypassed apurinic/apyrimidinic sites, probably originated from oxidative stress. The last two outcomes were identical to their mothers suggesting the inheritance of a template consistent with increased oxidative damage, whereas the frequency of mtDNA deletions in AU children was similar to that of their fathers.CONCLUSIONS:These results suggest that a combination of genetic and epigenetic factors, taking place during perinatal periods, results in a mtDNA template in children with autism similar to that expected for older individuals. En ligne : http://dx.doi.org/10.1186/2040-2392-4-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202

Executive Functions and Symptom Severity in an Italian Sample of Intellectually Able Preschoolers with Autism Spectrum Disorder / Giovanni VALERI in Journal of Autism and Developmental Disorders, 50-9 (September 2020)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 50-9 (September 2020) . - p.3207-3215 Titre : Executive Functions and Symptom Severity in an Italian Sample of Intellectually Able Preschoolers with Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Giovanni VALERI, Auteur ; Laura CASULA, Auteur ; Eleonora NAPOLI, Auteur ; Paolo STIEVANO, Auteur ; Barbara TRIMARCO, Auteur ; Stefano VICARI, Auteur ; Teresa Gloria SCALISI, Auteur Article en page(s) : p.3207-3215 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Executive functions  Inhibition  Preschoolers  Shifting  Working memory Index. décimale : PER Périodiques Résumé : A novel battery (BAFE; Valeri et al. 2015) was used in order to assess three executive function (EF) abilities (working memory, inhibition and shifting) in a sample of 27 intellectually able preschoolers with autism spectrum disorder (ASD) compared with 27 typically developing children matched on age and nonverbal IQ. Differences in EF skills were analyzed in participants with distinct ASD symptom severity. Children with ASD performed worse than typical controls on both set-shifting and inhibition, but not on visuo-spatial working memory. Additionally, children with more severe ASD symptoms showed a worse performance on inhibition than children with milder symptoms. These results confirm the presence of EF deficits and highlight a link between ASD symptoms and EF impairments in preschool age. En ligne : http://dx.doi.org/10.1007/s10803-019-04102-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430 [article] Executive Functions and Symptom Severity in an Italian Sample of Intellectually Able Preschoolers with Autism Spectrum Disorder [texte imprimé] / Giovanni VALERI, Auteur ; Laura CASULA, Auteur ; Eleonora NAPOLI, Auteur ; Paolo STIEVANO, Auteur ; Barbara TRIMARCO, Auteur ; Stefano VICARI, Auteur ; Teresa Gloria SCALISI, Auteur . - p.3207-3215. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 50-9 (September 2020) . - p.3207-3215 Mots-clés : Autism spectrum disorder  Executive functions  Inhibition  Preschoolers  Shifting  Working memory Index. décimale : PER Périodiques Résumé : A novel battery (BAFE; Valeri et al. 2015) was used in order to assess three executive function (EF) abilities (working memory, inhibition and shifting) in a sample of 27 intellectually able preschoolers with autism spectrum disorder (ASD) compared with 27 typically developing children matched on age and nonverbal IQ. Differences in EF skills were analyzed in participants with distinct ASD symptom severity. Children with ASD performed worse than typical controls on both set-shifting and inhibition, but not on visuo-spatial working memory. Additionally, children with more severe ASD symptoms showed a worse performance on inhibition than children with milder symptoms. These results confirm the presence of EF deficits and highlight a link between ASD symptoms and EF impairments in preschool age. En ligne : http://dx.doi.org/10.1007/s10803-019-04102-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430

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