
- <Centre d'Information et de documentation du CRA Rhône-Alpes
- CRA
- Informations pratiques
-
Adresse
Centre d'information et de documentation
Horaires
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexLundi au Vendredi
Contact
9h00-12h00 13h30-16h00Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Adresse
Auteur Roberto SACCO
|
|
Documents disponibles écrits par cet auteur (9)
Faire une suggestion Affiner la rechercheCandidate gene study of HOXB1 in autism spectrum disorder / Lucia A. MUSCARELLA in Molecular Autism, (May 2010)
![]()
[article]
Titre : Candidate gene study of HOXB1 in autism spectrum disorder Type de document : texte imprimé 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
in Molecular Autism > (May 2010) . - 39 p.[article] Candidate gene study of HOXB1 in autism spectrum disorder [texte imprimé] / 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)
![]()
[article]
Titre : Cluster Analysis of Autistic Patients Based on Principal Pathogenetic Components Type de document : texte imprimé 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
in Autism Research > 5-2 (April 2012) . - p.137-147[article] Cluster Analysis of Autistic Patients Based on Principal Pathogenetic Components [texte imprimé] / 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 Differential methylation at the RELN gene promoter in temporal cortex from autistic and typically developing post-puberal subjects / Carla LINTAS in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)
![]()
[article]
Titre : Differential methylation at the RELN gene promoter in temporal cortex from autistic and typically developing post-puberal subjects Type de document : texte imprimé Auteurs : Carla LINTAS, Auteur ; Roberto SACCO, Auteur ; Antonio M. PERSICO, Auteur Article en page(s) : p.18 Langues : Anglais (eng) Mots-clés : Autism DNA methylation Epigenetics Post-mortem brains Reelin Index. décimale : PER Périodiques Résumé : BACKGROUND: Reelin plays a pivotal role in neurodevelopment and in post-natal synaptic plasticity and has been implicated in the pathogenesis of autism spectrum disorder (ASD). The reelin (RELN) gene expression is significantly decreased in ASD, both in the brain and peripherally. Methylation at the RELN gene promoter is largely triggered at puberty, and hypermethylation has been found in post-mortem brains of schizophrenic and bipolar patients. METHODS: In this study, we assessed RELN gene methylation status in post-mortem temporocortical tissue samples (BA41/42 or 22) of six pairs of post-puberal individuals with ASD and typically developing subjects, matched for sex (male:female, M:F = 5:1), age, and post-mortem interval. RESULTS: ASD patients display a significantly higher number of methylated CpG islands and heavier methylation in the 5' region of the RELN gene promoter, spanning from -458 to -223 bp, whereas controls have more methylated CpG positions and greater extent of methylation at the 3' promoter region, spanning from -222 to +1 bp. The most upstream promoter region (-458 to -364 bp) is methylated only in ASD brains, while the most downstream region (-131 to +1 bp) is methylated exclusively in control brains. Within this general framework, three different methylation patterns are discernible, each correlated with different extents of reduction in reelin gene expression among ASD individuals compared to controls. CONCLUSIONS: The methylation pattern is different in ASD and control post-mortem brains. ASD-specific CpG positions, located in the most upstream gene promoter region, may exert a functional role potentially conferring ASD risk by blunting RELN gene expression. En ligne : http://dx.doi.org/10.1186/s11689-016-9151-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348
in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.18[article] Differential methylation at the RELN gene promoter in temporal cortex from autistic and typically developing post-puberal subjects [texte imprimé] / Carla LINTAS, Auteur ; Roberto SACCO, Auteur ; Antonio M. PERSICO, Auteur . - p.18.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.18
Mots-clés : Autism DNA methylation Epigenetics Post-mortem brains Reelin Index. décimale : PER Périodiques Résumé : BACKGROUND: Reelin plays a pivotal role in neurodevelopment and in post-natal synaptic plasticity and has been implicated in the pathogenesis of autism spectrum disorder (ASD). The reelin (RELN) gene expression is significantly decreased in ASD, both in the brain and peripherally. Methylation at the RELN gene promoter is largely triggered at puberty, and hypermethylation has been found in post-mortem brains of schizophrenic and bipolar patients. METHODS: In this study, we assessed RELN gene methylation status in post-mortem temporocortical tissue samples (BA41/42 or 22) of six pairs of post-puberal individuals with ASD and typically developing subjects, matched for sex (male:female, M:F = 5:1), age, and post-mortem interval. RESULTS: ASD patients display a significantly higher number of methylated CpG islands and heavier methylation in the 5' region of the RELN gene promoter, spanning from -458 to -223 bp, whereas controls have more methylated CpG positions and greater extent of methylation at the 3' promoter region, spanning from -222 to +1 bp. The most upstream promoter region (-458 to -364 bp) is methylated only in ASD brains, while the most downstream region (-131 to +1 bp) is methylated exclusively in control brains. Within this general framework, three different methylation patterns are discernible, each correlated with different extents of reduction in reelin gene expression among ASD individuals compared to controls. CONCLUSIONS: The methylation pattern is different in ASD and control post-mortem brains. ASD-specific CpG positions, located in the most upstream gene promoter region, may exert a functional role potentially conferring ASD risk by blunting RELN gene expression. En ligne : http://dx.doi.org/10.1186/s11689-016-9151-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 Evaluating Sex and Age Differences in ADI-R and ADOS Scores in a Large European Multi-site Sample of Individuals with Autism Spectrum Disorder / Julian TILLMANN in Journal of Autism and Developmental Disorders, 48-7 (July 2018)
![]()
[article]
Titre : Evaluating Sex and Age Differences in ADI-R and ADOS Scores in a Large European Multi-site Sample of Individuals with Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Julian TILLMANN, Auteur ; Karen L. ASHWOOD, Auteur ; Michael ABSOUD, Auteur ; Sven BÖLTE, Auteur ; Frédérique BONNET-BRILHAULT, Auteur ; Jan K. BUITELAAR, Auteur ; Sara CALDERONI, Auteur ; Rosa CALVO, Auteur ; Ricardo CANAL-BEDIA, Auteur ; Roberto CANITANO, Auteur ; Annelies A. DE BILDT, Auteur ; Marie GOMOT, Auteur ; Pieter J. HOEKSTRA, Auteur ; Anett KAALE, Auteur ; Helen MCCONACHIE, Auteur ; Declan G.M. MURPHY, Auteur ; Antonio NARZISI, Auteur ; Iris J. OOSTERLING, Auteur ; M. PEJOVIC-MILOVANCEVIC, Auteur ; Antonio M. PERSICO, Auteur ; Olga PUIG, Auteur ; Herbert ROEYERS, Auteur ; Nanda N. ROMMELSE, Auteur ; Roberto SACCO, Auteur ; Valeria SCANDURRA, Auteur ; Andrew C. STANFIELD, Auteur ; E. ZANDER, Auteur ; Tony CHARMAN, Auteur Article en page(s) : p.2490-2505 Langues : Anglais (eng) Mots-clés : Age Autism Spectrum Disorder Phenotype Sex Symptom severity Index. décimale : PER Périodiques Résumé : Research on sex-related differences in Autism Spectrum Disorder (ASD) has been impeded by small samples. We pooled 28 datasets from 18 sites across nine European countries to examine sex differences in the ASD phenotype on the ADI-R (376 females, 1763 males) and ADOS (233 females, 1187 males). On the ADI-R, early childhood restricted and repetitive behaviours were lower in females than males, alongside comparable levels of social interaction and communication difficulties in females and males. Current ADI-R and ADOS scores showed no sex differences for ASD severity. There were lower socio-communicative symptoms in older compared to younger individuals. This large European ASD sample adds to the literature on sex and age variations of ASD symptomatology. En ligne : http://dx.doi.org/10.1007/s10803-018-3510-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=367
in Journal of Autism and Developmental Disorders > 48-7 (July 2018) . - p.2490-2505[article] Evaluating Sex and Age Differences in ADI-R and ADOS Scores in a Large European Multi-site Sample of Individuals with Autism Spectrum Disorder [texte imprimé] / Julian TILLMANN, Auteur ; Karen L. ASHWOOD, Auteur ; Michael ABSOUD, Auteur ; Sven BÖLTE, Auteur ; Frédérique BONNET-BRILHAULT, Auteur ; Jan K. BUITELAAR, Auteur ; Sara CALDERONI, Auteur ; Rosa CALVO, Auteur ; Ricardo CANAL-BEDIA, Auteur ; Roberto CANITANO, Auteur ; Annelies A. DE BILDT, Auteur ; Marie GOMOT, Auteur ; Pieter J. HOEKSTRA, Auteur ; Anett KAALE, Auteur ; Helen MCCONACHIE, Auteur ; Declan G.M. MURPHY, Auteur ; Antonio NARZISI, Auteur ; Iris J. OOSTERLING, Auteur ; M. PEJOVIC-MILOVANCEVIC, Auteur ; Antonio M. PERSICO, Auteur ; Olga PUIG, Auteur ; Herbert ROEYERS, Auteur ; Nanda N. ROMMELSE, Auteur ; Roberto SACCO, Auteur ; Valeria SCANDURRA, Auteur ; Andrew C. STANFIELD, Auteur ; E. ZANDER, Auteur ; Tony CHARMAN, Auteur . - p.2490-2505.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 48-7 (July 2018) . - p.2490-2505
Mots-clés : Age Autism Spectrum Disorder Phenotype Sex Symptom severity Index. décimale : PER Périodiques Résumé : Research on sex-related differences in Autism Spectrum Disorder (ASD) has been impeded by small samples. We pooled 28 datasets from 18 sites across nine European countries to examine sex differences in the ASD phenotype on the ADI-R (376 females, 1763 males) and ADOS (233 females, 1187 males). On the ADI-R, early childhood restricted and repetitive behaviours were lower in females than males, alongside comparable levels of social interaction and communication difficulties in females and males. Current ADI-R and ADOS scores showed no sex differences for ASD severity. There were lower socio-communicative symptoms in older compared to younger individuals. This large European ASD sample adds to the literature on sex and age variations of ASD symptomatology. En ligne : http://dx.doi.org/10.1007/s10803-018-3510-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=367 Principal pathogenetic components and biological endophenotypes in autism spectrum disorders / Roberto SACCO in Autism Research, 3-5 (October 2010)
![]()
[article]
Titre : Principal pathogenetic components and biological endophenotypes in autism spectrum disorders Type de document : texte imprimé Auteurs : Roberto SACCO, Auteur ; Paolo CURATOLO, Auteur ; Barbara MANZI, Auteur ; Roberto MILITERNI, Auteur ; Carmela BRAVACCIO, Auteur ; Alessandro FROLLI, Auteur ; Carlo LENTI, Auteur ; Monica SACCANI, Auteur ; Maurizio ELIA, Auteur ; Karl-Ludvig REICHELT, Auteur ; Tiziana PASCUCCI, Auteur ; Stefano PUGLISI-ALLEGRA, Auteur ; Antonio M. PERSICO, Auteur Année de publication : 2010 Article en page(s) : p.237-252 Langues : Anglais (eng) Mots-clés : autistic disorder macrocephaly neurodevelopment pervasive developmental disorders principal component analysis serotonin Index. décimale : PER Périodiques Résumé : Autism is a complex neurodevelopmental disorder, likely encompassing multiple pathogenetic components. The aim of this study is to begin identifying at least some of these components and to assess their association with biological endophenotypes. To address this issue, we recruited 245 Italian patients with idiopathic autism spectrum disorders and their first-degree relatives. Using a stepwise approach, patient and family history variables were analyzed using principal component analysis (“exploratory phase”), followed by intra- and inter-component cross-correlation analyses (“follow-up phase”), and by testing for association between each component and biological endophenotypes, namely head circumference, serotonin blood levels, and global urinary peptide excretion rates (“biological correlation phase”). Four independent components were identified, namely “circadian & sensory dysfunction,” “immune dysfunction,” “neurodevelopmental delay,” and “stereotypic behavior,” together representing 74.5% of phenotypic variance in our sample. Marker variables in the latter three components are positively associated with macrocephaly, global peptiduria, and serotonin blood levels, respectively. These four components point toward at least four processes associated with autism, namely (I) a disruption of the circadian cycle associated with behavioral and sensory abnormalities, (II) dysreactive immune processes, surprisingly linked both to prenatal obstetric complications and to excessive postnatal body growth rates, (III) a generalized developmental delay, and (IV) an abnormal neural circuitry underlying stereotypies and early social behaviors. En ligne : http://dx.doi.org/10.1002/aur.151 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115
in Autism Research > 3-5 (October 2010) . - p.237-252[article] Principal pathogenetic components and biological endophenotypes in autism spectrum disorders [texte imprimé] / Roberto SACCO, Auteur ; Paolo CURATOLO, Auteur ; Barbara MANZI, Auteur ; Roberto MILITERNI, Auteur ; Carmela BRAVACCIO, Auteur ; Alessandro FROLLI, Auteur ; Carlo LENTI, Auteur ; Monica SACCANI, Auteur ; Maurizio ELIA, Auteur ; Karl-Ludvig REICHELT, Auteur ; Tiziana PASCUCCI, Auteur ; Stefano PUGLISI-ALLEGRA, Auteur ; Antonio M. PERSICO, Auteur . - 2010 . - p.237-252.
Langues : Anglais (eng)
in Autism Research > 3-5 (October 2010) . - p.237-252
Mots-clés : autistic disorder macrocephaly neurodevelopment pervasive developmental disorders principal component analysis serotonin Index. décimale : PER Périodiques Résumé : Autism is a complex neurodevelopmental disorder, likely encompassing multiple pathogenetic components. The aim of this study is to begin identifying at least some of these components and to assess their association with biological endophenotypes. To address this issue, we recruited 245 Italian patients with idiopathic autism spectrum disorders and their first-degree relatives. Using a stepwise approach, patient and family history variables were analyzed using principal component analysis (“exploratory phase”), followed by intra- and inter-component cross-correlation analyses (“follow-up phase”), and by testing for association between each component and biological endophenotypes, namely head circumference, serotonin blood levels, and global urinary peptide excretion rates (“biological correlation phase”). Four independent components were identified, namely “circadian & sensory dysfunction,” “immune dysfunction,” “neurodevelopmental delay,” and “stereotypic behavior,” together representing 74.5% of phenotypic variance in our sample. Marker variables in the latter three components are positively associated with macrocephaly, global peptiduria, and serotonin blood levels, respectively. These four components point toward at least four processes associated with autism, namely (I) a disruption of the circadian cycle associated with behavioral and sensory abnormalities, (II) dysreactive immune processes, surprisingly linked both to prenatal obstetric complications and to excessive postnatal body growth rates, (III) a generalized developmental delay, and (IV) an abnormal neural circuitry underlying stereotypies and early social behaviors. En ligne : http://dx.doi.org/10.1002/aur.151 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115 Slow intestinal transit contributes to elevate urinary p-cresol level in Italian autistic children / Stefano GABRIELE in Autism Research, 9-7 (July 2016)
![]()
PermalinkThe EU-AIMS Longitudinal European Autism Project (LEAP): clinical characterisation / Tony CHARMAN in Molecular Autism, 8 (2017)
![]()
PermalinkThe EU-AIMS Longitudinal European Autism Project (LEAP): design and methodologies to identify and validate stratification biomarkers for autism spectrum disorders / Eva LOTH in Molecular Autism, 8 (2017)
![]()
PermalinkToe 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)
![]()
Permalink

