Autism: Where Genetics Meets the Immune System / Antonio M. PERSICO in Autism Research and Treatment, (July 2012)  

Public ISBD [article]  inAutism Research and Treatment > (July 2012) . - 2 p. Titre : Autism: Where Genetics Meets the Immune System Type de document : Texte imprimé et/ou numérique Auteurs : Antonio M. PERSICO, Auteur ; Judy VAN DE WATER, Auteur ; Carlos A. PARDO, Auteur Année de publication : 2012 Article en page(s) : 2 p. Langues : Anglais (eng) Mots-clés : Immunologie Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1155/2012/486359 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=181 [article] Autism: Where Genetics Meets the Immune System [Texte imprimé et/ou numérique] / Antonio M. PERSICO, Auteur ; Judy VAN DE WATER, Auteur ; Carlos A. PARDO, Auteur . - 2012 . - 2 p. Langues : Anglais (eng) in Autism Research and Treatment > (July 2012) . - 2 p. Mots-clés : Immunologie Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1155/2012/486359 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=181

Candidate gene study of HOXB1 in autism spectrum disorder / Lucia A. MUSCARELLA in Molecular Autism, (May 2010)  

Public ISBD [article]  inMolecular Autism > (May 2010) . - 39 p. Titre : Candidate gene study of HOXB1 in autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Lucia A. MUSCARELLA, Auteur ; Carmela BRAVACCIO, Auteur ; Cindy SCHNEIDER, Auteur ; Monica SACCANI, Auteur ; Carlo LENTI, Auteur ; Roberto MILITERNI, Auteur ; Grazia GIANA, Auteur ; Riccardo ALESSANDRELLI, Auteur ; Barbara MANZI, Auteur ; Roberto SACCO, Auteur ; Vito GUARNIERI, Auteur ; Raun D. MELMED, Auteur ; Paolo CURATOLO, Auteur ; Antonio M. PERSICO, Auteur ; Leonardo D'AGRUMA, Auteur Année de publication : 2010 Article en page(s) : 39 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Background HOXB1 plays a major role in brainstem morphogenesis and could partly determine the cranial circumference in conjunction with HOXA1. In our sample, HOXA1 alleles significantly influence head growth rates both in autistic patients and in population controls. An initial report, suggesting that HOXB1 could confer autism vulnerability in interaction with HOXA1, was not confirmed by five small association studies. Methods Our sample includes 269 autistic individuals, belonging to 219 simplex and 28 multiplex families. A mutational analysis of the two exons and flanking intronic sequences of the HOXB1 gene was carried out in 84 autistic patients by denaturing high performance liquid chromatography, followed by DNA sequencing. Identified rare variants were then searched by a restriction analysis in 236 autistic patients and 325-345 controls. Case-control and family-based association studies were performed on two common variants in 169 Italian patients versus 184 Italian controls and in 247 trios. Results We identified three common polymorphisms, rs72338773 [c.82insACAGCGCCC (INS/nINS)], rs12939811 [c.309A>T (Q103H)], and rs7207109 [c.450G>A (A150A)] and three rare variants, namely IVS1+63G>A, rs35115415 [c.702G>A (V234V)] and c.872_873delinsAA (S291N). SNPs rs72338773 and rs12939811 were not associated with autism, using either a case-control (alleles, exact P=0.13) or a family-based design [transmission/disequilibrium test (TDT)x2=1.774, P=0.183]. The rare variants, all inherited from one of the parents, were present in two Italian and in two Caucasian-American families. Autistic probands in two families surprisingly inherited a distinct rare variant from each parent. The IVS1+63A allele was present in 3/690 control chromosomes, whereas rare alleles at rs35115415 and c.872_873delinsAA (S291N) were not found in 662 and 650 control chromosomes, respectively. The INS-T309 allele influenced head size, but its effect appears more modest and shows no interaction with HOXA1 alleles. The INS-T309 allele is also associated with more severe stereotypic behaviours, according to ADI-R scores (N= 60 patients, P<0.01). Conclusions HOXB1 mutations do not represent a common cause of autism, nor do HOXB1 common variants play important roles in autism vulnerability. HOXB1 provides minor, albeit detectable contributions to head circumference in autistic patients, with HOXA1 displaying more prominent effects. HOXB1 variants may modulate the clinical phenotype, especially in the area of stereotypic behaviours. En ligne : http://dx.doi.org/10.1186/2040-2392-1-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=103 [article] Candidate gene study of HOXB1 in autism spectrum disorder [Texte imprimé et/ou numérique] / Lucia A. MUSCARELLA, Auteur ; Carmela BRAVACCIO, Auteur ; Cindy SCHNEIDER, Auteur ; Monica SACCANI, Auteur ; Carlo LENTI, Auteur ; Roberto MILITERNI, Auteur ; Grazia GIANA, Auteur ; Riccardo ALESSANDRELLI, Auteur ; Barbara MANZI, Auteur ; Roberto SACCO, Auteur ; Vito GUARNIERI, Auteur ; Raun D. MELMED, Auteur ; Paolo CURATOLO, Auteur ; Antonio M. PERSICO, Auteur ; Leonardo D'AGRUMA, Auteur . - 2010 . - 39 p. Langues : Anglais (eng) in Molecular Autism > (May 2010) . - 39 p. Index. décimale : PER Périodiques Résumé : Background HOXB1 plays a major role in brainstem morphogenesis and could partly determine the cranial circumference in conjunction with HOXA1. In our sample, HOXA1 alleles significantly influence head growth rates both in autistic patients and in population controls. An initial report, suggesting that HOXB1 could confer autism vulnerability in interaction with HOXA1, was not confirmed by five small association studies. Methods Our sample includes 269 autistic individuals, belonging to 219 simplex and 28 multiplex families. A mutational analysis of the two exons and flanking intronic sequences of the HOXB1 gene was carried out in 84 autistic patients by denaturing high performance liquid chromatography, followed by DNA sequencing. Identified rare variants were then searched by a restriction analysis in 236 autistic patients and 325-345 controls. Case-control and family-based association studies were performed on two common variants in 169 Italian patients versus 184 Italian controls and in 247 trios. Results We identified three common polymorphisms, rs72338773 [c.82insACAGCGCCC (INS/nINS)], rs12939811 [c.309A>T (Q103H)], and rs7207109 [c.450G>A (A150A)] and three rare variants, namely IVS1+63G>A, rs35115415 [c.702G>A (V234V)] and c.872_873delinsAA (S291N). SNPs rs72338773 and rs12939811 were not associated with autism, using either a case-control (alleles, exact P=0.13) or a family-based design [transmission/disequilibrium test (TDT)x2=1.774, P=0.183]. The rare variants, all inherited from one of the parents, were present in two Italian and in two Caucasian-American families. Autistic probands in two families surprisingly inherited a distinct rare variant from each parent. The IVS1+63A allele was present in 3/690 control chromosomes, whereas rare alleles at rs35115415 and c.872_873delinsAA (S291N) were not found in 662 and 650 control chromosomes, respectively. The INS-T309 allele influenced head size, but its effect appears more modest and shows no interaction with HOXA1 alleles. The INS-T309 allele is also associated with more severe stereotypic behaviours, according to ADI-R scores (N= 60 patients, P<0.01). Conclusions HOXB1 mutations do not represent a common cause of autism, nor do HOXB1 common variants play important roles in autism vulnerability. HOXB1 provides minor, albeit detectable contributions to head circumference in autistic patients, with HOXA1 displaying more prominent effects. HOXB1 variants may modulate the clinical phenotype, especially in the area of stereotypic behaviours. En ligne : http://dx.doi.org/10.1186/2040-2392-1-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=103

Cluster Analysis of Autistic Patients Based on Principal Pathogenetic Components / Roberto SACCO in Autism Research, 5-2 (April 2012)  

Public ISBD [article]  inAutism Research > 5-2 (April 2012) . - p.137-147 Titre : Cluster Analysis of Autistic Patients Based on Principal Pathogenetic Components Type de document : Texte imprimé et/ou numérique Auteurs : Roberto SACCO, Auteur ; Carlo LENTI, Auteur ; Monica SACCANI, Auteur ; Paolo CURATOLO, Auteur ; Barbara MANZI, Auteur ; Carmela BRAVACCIO, Auteur ; Antonio M. PERSICO, Auteur Année de publication : 2012 Article en page(s) : p.137-147 Langues : Anglais (eng) Mots-clés : pervasive developmental disorders  cluster analysis  immune system  neurodevelopment  principal component analysis Index. décimale : PER Périodiques Résumé : We have recently described four principal pathogenetic components in autism: (I) circadian and sensory dysfunction, (II) immune abnormalities, (III) neurodevelopmental delay, and (IV) stereotypic behaviors. Using hierarchical and k-means clustering, the same 245 patients assessed in our principal component analysis can be partitioned into four clusters: (a) 43 (17.6%) have prominent immune abnormalities accompanied by some circadian and sensory issues; (b) 44 (18.0%) display major circadian and sensory dysfunction, with little or no immune symptoms; (c) stereotypies predominate in 75 (31.0%); and (d) 83 (33.9%) show a mixture of all four components, with greater disruptive behaviors and mental retardation. The “immune” component provides the largest contributions to phenotypic variance (P = 2.7 x 10–45), followed by “stereotypic behaviors.” These patient clusters may likely differ in genetic and immune underpinnings, developmental trajectories, and response to treatment. En ligne : http://dx.doi.org/10.1002/aur.1226 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155 [article] Cluster Analysis of Autistic Patients Based on Principal Pathogenetic Components [Texte imprimé et/ou numérique] / Roberto SACCO, Auteur ; Carlo LENTI, Auteur ; Monica SACCANI, Auteur ; Paolo CURATOLO, Auteur ; Barbara MANZI, Auteur ; Carmela BRAVACCIO, Auteur ; Antonio M. PERSICO, Auteur . - 2012 . - p.137-147. Langues : Anglais (eng) in Autism Research > 5-2 (April 2012) . - p.137-147 Mots-clés : pervasive developmental disorders  cluster analysis  immune system  neurodevelopment  principal component analysis Index. décimale : PER Périodiques Résumé : We have recently described four principal pathogenetic components in autism: (I) circadian and sensory dysfunction, (II) immune abnormalities, (III) neurodevelopmental delay, and (IV) stereotypic behaviors. Using hierarchical and k-means clustering, the same 245 patients assessed in our principal component analysis can be partitioned into four clusters: (a) 43 (17.6%) have prominent immune abnormalities accompanied by some circadian and sensory issues; (b) 44 (18.0%) display major circadian and sensory dysfunction, with little or no immune symptoms; (c) stereotypies predominate in 75 (31.0%); and (d) 83 (33.9%) show a mixture of all four components, with greater disruptive behaviors and mental retardation. The “immune” component provides the largest contributions to phenotypic variance (P = 2.7 x 10–45), followed by “stereotypic behaviors.” These patient clusters may likely differ in genetic and immune underpinnings, developmental trajectories, and response to treatment. En ligne : http://dx.doi.org/10.1002/aur.1226 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155

Environmental Factors and Autism Spectrum Disorder / Antonio M. PERSICO in Key Issues in Mental Health, 180 (2015)

Public ISBD [article]  inKey Issues in Mental Health > 180 (2015) . - p.113-134 Titre : Environmental Factors and Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Antonio M. PERSICO, Auteur ; Sara MERELLI, Auteur Article en page(s) : p.113-134 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : Multiple observations indicate that environmental and epigenetic factors play an important role in the emergence of autism spectrum disorders (ASD). Growing ASD incidence rates, the incomplete penetrance of many rare variants linked to autism, and increased exposure to environmental contaminants all strongly support the role of gene × environment interactions in a substantial fraction of autistic patients. Within this framework, genetically susceptible individuals exposed to detrimental environmental factors at critical times during neurodevelopment might undergo disrupted brain morphogenesis, neuronal connectivity, and synaptic functioning consequently yielding ASD. Several teratogenic drugs and prenatal viral infections are able to cause autism in humans, as supported by case reports, cohort studies, and animal models. Moreover, recent studies have shown that some newly identified potential neurotoxicants may negatively affect developmental trajectories, leading to altered cognitive, attentive, behavioral, and motor performances, as well as to systemic abnormalities frequently seen in autistic individuals. A variety of mechanisms are potentially involved, ranging from oxidative and inflammatory brain damage to altered gene expression and impaired signal transduction. More research is needed to thoroughly investigate the effects of these compounds on neurodevelopment, to validate their involvement specifically in ASD, to study gene × environment interactions in potentially susceptible individuals, and to plan targeted prevention strategies. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271 [article] Environmental Factors and Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Antonio M. PERSICO, Auteur ; Sara MERELLI, Auteur . - p.113-134. Langues : Anglais (eng) in Key Issues in Mental Health > 180 (2015) . - p.113-134 Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : Multiple observations indicate that environmental and epigenetic factors play an important role in the emergence of autism spectrum disorders (ASD). Growing ASD incidence rates, the incomplete penetrance of many rare variants linked to autism, and increased exposure to environmental contaminants all strongly support the role of gene × environment interactions in a substantial fraction of autistic patients. Within this framework, genetically susceptible individuals exposed to detrimental environmental factors at critical times during neurodevelopment might undergo disrupted brain morphogenesis, neuronal connectivity, and synaptic functioning consequently yielding ASD. Several teratogenic drugs and prenatal viral infections are able to cause autism in humans, as supported by case reports, cohort studies, and animal models. Moreover, recent studies have shown that some newly identified potential neurotoxicants may negatively affect developmental trajectories, leading to altered cognitive, attentive, behavioral, and motor performances, as well as to systemic abnormalities frequently seen in autistic individuals. A variety of mechanisms are potentially involved, ranging from oxidative and inflammatory brain damage to altered gene expression and impaired signal transduction. More research is needed to thoroughly investigate the effects of these compounds on neurodevelopment, to validate their involvement specifically in ASD, to study gene × environment interactions in potentially susceptible individuals, and to plan targeted prevention strategies. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271

Gene–environment interactions in autism spectrum disorder / Antonio M. PERSICO

Public ISBD in Neurobiology, diagnosis and treatment in autism / Daria RIVA Titre : Gene–environment interactions in autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Antonio M. PERSICO, Auteur Année de publication : 2013 Importance : p.43-49 Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=217 in Neurobiology, diagnosis and treatment in autism / Daria RIVA Gene–environment interactions in autism spectrum disorder [Texte imprimé et/ou numérique] / Antonio M. PERSICO, Auteur . - 2013 . - p.43-49. Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=217

Exemplaires

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Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder / Daniel B. CAMPBELL in Autism Research, 1-3 (June 2008)  

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Interactions gènes-environnement dans la pathogénie / Marcello D’AMELIO

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Principal pathogenetic components and biological endophenotypes in autism spectrum disorders / Roberto SACCO in Autism Research, 3-5 (October 2010)  

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Resting state EEG power spectrum and functional connectivity in autism: a cross-sectional analysis / Pilar GARCES in Molecular Autism, 13 (2022)  

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Slow intestinal transit contributes to elevate urinary p-cresol level in Italian autistic children / Stefano GABRIELE in Autism Research, 9-7 (July 2016)  

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Toe walking in children and adolescents with Autism Spectrum Disorder: Relationship with sensory and motor functions,language, cognition, and autism severity / Roberto SACCO ; Maria BONCODDO ; Fabiana BELLOMO ; Francesca CUCINOTTA ; Arianna RICCIARDELLO ; Laura TURRIZIANI ; Pasquale TOMAIUOLO ; Riccardo Cuoghi COSTANTINI ; Roberto D'AMICO ; Antonio M. PERSICO in Research in Autism Spectrum Disorders, 117 (September 2024)  

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