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

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

Public ISBD [article]  inAutism Research > 3-5 (October 2010) . - p.237-252 Titre : Principal pathogenetic components and biological endophenotypes in autism spectrum disorders Type de document : Texte imprimé et/ou numérique 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 [article] Principal pathogenetic components and biological endophenotypes in autism spectrum disorders [Texte imprimé et/ou numérique] / 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)  

Public ISBD [article]  inAutism Research > 9-7 (July 2016) . - p.752-759 Titre : Slow intestinal transit contributes to elevate urinary p-cresol level in Italian autistic children Type de document : Texte imprimé et/ou numérique Auteurs : Stefano GABRIELE, Auteur ; Roberto SACCO, Auteur ; Laura ALTIERI, Auteur ; Cristina NERI, Auteur ; Andrea URBANI, Auteur ; Carmela BRAVACCIO, Auteur ; Maria Pia RICCIO, Auteur ; Maria Rosaria IOVENE, Auteur ; Francesca BOMBACE, Auteur ; Laura DE MAGISTRIS, Auteur ; Antonio M. PERSICO, Auteur Article en page(s) : p.752-759 Langues : Anglais (eng) Mots-clés : autism  autism spectrum disorder  biomarker  constipation  gut  intestinal transit  organic contaminants  neurotoxicity Index. décimale : PER Périodiques Résumé : The uremic toxin p-cresol (4-methylphenol) is either of environmental origin or can be synthetized from tyrosine by cresol-producing bacteria present in the gut lumen. Elevated p-cresol amounts have been previously found in the urines of Italian and French autism spectrum disorder (ASD) children up until 8 years of age, and may be associated with autism severity or with the intensity of abnormal behaviors. This study aims to investigate the mechanism producing elevated urinary p-cresol in ASD. Urinary p-cresol levels were thus measured by High Performance Liquid Chromatography in a sample of 53 Italian ASD children assessed for (a) presence of Clostridium spp. strains in the gut by means of an in vitro fecal stool test and of Clostridium difficile-derived toxin A/B in the feces, (b) intestinal permeability using the lactulose/mannitol (LA/MA) test, (c) frequent use of antibiotics due to recurrent infections during the first 2 years of postnatal life, and (d) stool habits with the Bristol Stool Form Scale. Chronic constipation was the only variable significantly associated with total urinary p-cresol concentration (P < 0.05). No association was found with presence of Clostridium spp. in the gut flora (P?=?0.92), augmented intestinal permeability (P?=?0.18), or frequent use of antibiotics in early infancy (P?=?0.47). No ASD child was found to carry C. difficile in the gut or to release toxin A/B in the feces. In conclusion, urinary p-cresol levels are elevated in young ASD children with increased intestinal transit time and chronic constipation. Autism Res 2016, 9: 752–759. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1571 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=292 [article] Slow intestinal transit contributes to elevate urinary p-cresol level in Italian autistic children [Texte imprimé et/ou numérique] / Stefano GABRIELE, Auteur ; Roberto SACCO, Auteur ; Laura ALTIERI, Auteur ; Cristina NERI, Auteur ; Andrea URBANI, Auteur ; Carmela BRAVACCIO, Auteur ; Maria Pia RICCIO, Auteur ; Maria Rosaria IOVENE, Auteur ; Francesca BOMBACE, Auteur ; Laura DE MAGISTRIS, Auteur ; Antonio M. PERSICO, Auteur . - p.752-759. Langues : Anglais (eng) in Autism Research > 9-7 (July 2016) . - p.752-759 Mots-clés : autism  autism spectrum disorder  biomarker  constipation  gut  intestinal transit  organic contaminants  neurotoxicity Index. décimale : PER Périodiques Résumé : The uremic toxin p-cresol (4-methylphenol) is either of environmental origin or can be synthetized from tyrosine by cresol-producing bacteria present in the gut lumen. Elevated p-cresol amounts have been previously found in the urines of Italian and French autism spectrum disorder (ASD) children up until 8 years of age, and may be associated with autism severity or with the intensity of abnormal behaviors. This study aims to investigate the mechanism producing elevated urinary p-cresol in ASD. Urinary p-cresol levels were thus measured by High Performance Liquid Chromatography in a sample of 53 Italian ASD children assessed for (a) presence of Clostridium spp. strains in the gut by means of an in vitro fecal stool test and of Clostridium difficile-derived toxin A/B in the feces, (b) intestinal permeability using the lactulose/mannitol (LA/MA) test, (c) frequent use of antibiotics due to recurrent infections during the first 2 years of postnatal life, and (d) stool habits with the Bristol Stool Form Scale. Chronic constipation was the only variable significantly associated with total urinary p-cresol concentration (P < 0.05). No association was found with presence of Clostridium spp. in the gut flora (P?=?0.92), augmented intestinal permeability (P?=?0.18), or frequent use of antibiotics in early infancy (P?=?0.47). No ASD child was found to carry C. difficile in the gut or to release toxin A/B in the feces. In conclusion, urinary p-cresol levels are elevated in young ASD children with increased intestinal transit time and chronic constipation. Autism Res 2016, 9: 752–759. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1571 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=292

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)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 117 (September 2024) . - p.102457 Titre : Toe walking in children and adolescents with Autism Spectrum Disorder: Relationship with sensory and motor functions,language, cognition, and autism severity Type de document : Texte imprimé et/ou numérique Auteurs : Roberto SACCO, Auteur ; Maria BONCODDO, Auteur ; Fabiana BELLOMO, Auteur ; Francesca CUCINOTTA, Auteur ; Arianna RICCIARDELLO, Auteur ; Laura TURRIZIANI, Auteur ; Pasquale TOMAIUOLO, Auteur ; Riccardo Cuoghi COSTANTINI, Auteur ; Roberto D'AMICO, Auteur ; Antonio M. PERSICO, Auteur Article en page(s) : p.102457 Langues : Anglais (eng) Mots-clés : Autism  Autism Spectrum Disorder  Intellectual Disability  Primitive reflex  Sensory profile  Toe walking Index. décimale : PER Périodiques Résumé : Background Children and adolescents with Autism Spectrum Disorder (ASD) often present motor signs and symptoms, including toe walking (TW). The pathophysiology of TW in ASD is not fully understood. In particular, it is debated whether it may represent a persistent primitive walking pattern or the result of abnormal processing of sensory input from the lower limbs and feet. The present study is aimed at assessing the association between TW and cognitive, sensory, motor and language functions, as well as autism severity. Method We enrolled 112 children and adolescents with ASD, 61 with TW and 51 without TW. A complete psychodiagnostic assessment was performed, including ADOS-2, ADI-R, PEP-3, IQ testing or Griffiths Mental Developmental Scales, and Short Sensory Profile. Results Children and adolescents with TW have significantly lower cognitive level, greater language and motor impairment, as well as greater autism severity. Instead, no difference in severity of sensory abnormalities or in sensory profile emerges between cases with and without TW. Conclusions the present data are most compatible with a model interpreting TW as a behavioral pattern resulting from the persistence of a primitive walking pattern (i.e. lack of heel strike, prior to the acquisition of plantar walking) or possibly of archaic tonic reflexes, rather than as a consequence primarily of abnormal sensory processing. Health practitioners should monitor the gait of autistic children and plan appropriate interventions, aimed at promoting the adoption of more mature plantar walking patterns. En ligne : https://doi.org/10.1016/j.rasd.2024.102457 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=534 [article] Toe walking in children and adolescents with Autism Spectrum Disorder: Relationship with sensory and motor functions,language, cognition, and autism severity [Texte imprimé et/ou numérique] / Roberto SACCO, Auteur ; Maria BONCODDO, Auteur ; Fabiana BELLOMO, Auteur ; Francesca CUCINOTTA, Auteur ; Arianna RICCIARDELLO, Auteur ; Laura TURRIZIANI, Auteur ; Pasquale TOMAIUOLO, Auteur ; Riccardo Cuoghi COSTANTINI, Auteur ; Roberto D'AMICO, Auteur ; Antonio M. PERSICO, Auteur . - p.102457. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 117 (September 2024) . - p.102457 Mots-clés : Autism  Autism Spectrum Disorder  Intellectual Disability  Primitive reflex  Sensory profile  Toe walking Index. décimale : PER Périodiques Résumé : Background Children and adolescents with Autism Spectrum Disorder (ASD) often present motor signs and symptoms, including toe walking (TW). The pathophysiology of TW in ASD is not fully understood. In particular, it is debated whether it may represent a persistent primitive walking pattern or the result of abnormal processing of sensory input from the lower limbs and feet. The present study is aimed at assessing the association between TW and cognitive, sensory, motor and language functions, as well as autism severity. Method We enrolled 112 children and adolescents with ASD, 61 with TW and 51 without TW. A complete psychodiagnostic assessment was performed, including ADOS-2, ADI-R, PEP-3, IQ testing or Griffiths Mental Developmental Scales, and Short Sensory Profile. Results Children and adolescents with TW have significantly lower cognitive level, greater language and motor impairment, as well as greater autism severity. Instead, no difference in severity of sensory abnormalities or in sensory profile emerges between cases with and without TW. Conclusions the present data are most compatible with a model interpreting TW as a behavioral pattern resulting from the persistence of a primitive walking pattern (i.e. lack of heel strike, prior to the acquisition of plantar walking) or possibly of archaic tonic reflexes, rather than as a consequence primarily of abnormal sensory processing. Health practitioners should monitor the gait of autistic children and plan appropriate interventions, aimed at promoting the adoption of more mature plantar walking patterns. En ligne : https://doi.org/10.1016/j.rasd.2024.102457 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=534

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