Behavioral Phenotype of ASD Preschoolers with Gastrointestinal Symptoms or Food Selectivity / M. PROSPERI in Journal of Autism and Developmental Disorders, 47-11 (November 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-11 (November 2017) . - p.3574-3588 Titre : Behavioral Phenotype of ASD Preschoolers with Gastrointestinal Symptoms or Food Selectivity Type de document : Texte imprimé et/ou numérique Auteurs : M. PROSPERI, Auteur ; E. SANTOCCHI, Auteur ; Giulia BALBONI, Auteur ; A. NARZISI, Auteur ; M. BOZZA, Auteur ; F. FULCERI, Auteur ; Fabio APICELLA, Auteur ; R. IGLIOZZI, Auteur ; A. COSENZA, Auteur ; Raffaella TANCREDI, Auteur ; Sara CALDERONI, Auteur ; F. MURATORI, Auteur Article en page(s) : p.3574-3588 Langues : Anglais (eng) Mots-clés : Anxiety Problems  Child Behavior Checklist 1(1/2)-5  Externalizing Problems  Restrictive and repetitive behaviours  Sleep Problems  Young Children Index. décimale : PER Périodiques Résumé : This study investigated the prevalence and type of gastrointestinal (GI) and food selectivity (FS) symptoms in 163 preschoolers with ASD, and their possible links with core ASD features and emotional/behavioural problems. 40.5% of children with ASD had at least one severe GI symptom or FS. Preschoolers with and without GI symptoms and with and without FS were significantly different on several emotional/behavioural problems and restrictive/repetitive behaviours, whereas they did not differ significantly on performance IQ and autistic severity. The GI plus FS group presented with Sleep Problems, Self-injurious Behaviors and Anxiety Problems. Results indicated the need for early identification of GI disturbances and FS in order to design tailored intervention for these symptoms frequently associated to challenging behaviours in ASD. En ligne : http://dx.doi.org/10.1007/s10803-017-3271-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=325 [article] Behavioral Phenotype of ASD Preschoolers with Gastrointestinal Symptoms or Food Selectivity [Texte imprimé et/ou numérique] / M. PROSPERI, Auteur ; E. SANTOCCHI, Auteur ; Giulia BALBONI, Auteur ; A. NARZISI, Auteur ; M. BOZZA, Auteur ; F. FULCERI, Auteur ; Fabio APICELLA, Auteur ; R. IGLIOZZI, Auteur ; A. COSENZA, Auteur ; Raffaella TANCREDI, Auteur ; Sara CALDERONI, Auteur ; F. MURATORI, Auteur . - p.3574-3588. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-11 (November 2017) . - p.3574-3588 Mots-clés : Anxiety Problems  Child Behavior Checklist 1(1/2)-5  Externalizing Problems  Restrictive and repetitive behaviours  Sleep Problems  Young Children Index. décimale : PER Périodiques Résumé : This study investigated the prevalence and type of gastrointestinal (GI) and food selectivity (FS) symptoms in 163 preschoolers with ASD, and their possible links with core ASD features and emotional/behavioural problems. 40.5% of children with ASD had at least one severe GI symptom or FS. Preschoolers with and without GI symptoms and with and without FS were significantly different on several emotional/behavioural problems and restrictive/repetitive behaviours, whereas they did not differ significantly on performance IQ and autistic severity. The GI plus FS group presented with Sleep Problems, Self-injurious Behaviors and Anxiety Problems. Results indicated the need for early identification of GI disturbances and FS in order to design tailored intervention for these symptoms frequently associated to challenging behaviours in ASD. En ligne : http://dx.doi.org/10.1007/s10803-017-3271-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=325

A Combined Study on the Use of the Child Behavior Checklist 1½-5 for Identifying Autism Spectrum Disorders at 18 Months / Natasha CHERICONI in Journal of Autism and Developmental Disorders, 51-11 (November 2021)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 51-11 (November 2021) . - p.3829-3842 Titre : A Combined Study on the Use of the Child Behavior Checklist 1½-5 for Identifying Autism Spectrum Disorders at 18 Months Type de document : Texte imprimé et/ou numérique Auteurs : Natasha CHERICONI, Auteur ; Giulia BALBONI, Auteur ; V. COSTANZO, Auteur ; A. MANCINI, Auteur ; M. PROSPERI, Auteur ; R. LASALA, Auteur ; Raffaella TANCREDI, Auteur ; M. L. SCATTONI, Auteur ; F. MURATORI, Auteur ; Fabio APICELLA, Auteur Article en page(s) : p.3829-3842 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis  Checklist  Child  Child Behavior  Humans  Male  Siblings  Autism spectrum disorder screening  Baby sibling paradigm  Cbcl 1½-5  Familial high-risk Index. décimale : PER Périodiques Résumé : The capacity of the Child Behavior Checklist 1½-5 (CBCL 1½-5) to identify children with autism spectrum disorder (ASD) at 18 months was tested on 37 children clinically referred for ASD and 46 children at elevated likelihood of developing ASD due to having an affected brother/sister. At 30 months the clinically referred children all received a confirmatory diagnosis, and 10 out of 46 siblings received a diagnosis of ASD. CBCL 1½-5 profiles were compared with a group of matched children with typical development (effect of cognitive level controlled for). The capacity of the CBCL 1½-5 DSM Oriented-Pervasive Developmental Problems scale to differentiate correctly between children diagnosed with ASD and children with typical development appeared dependent on group ascertainment methodology. En ligne : http://dx.doi.org/10.1007/s10803-020-04838-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453 [article] A Combined Study on the Use of the Child Behavior Checklist 1½-5 for Identifying Autism Spectrum Disorders at 18 Months [Texte imprimé et/ou numérique] / Natasha CHERICONI, Auteur ; Giulia BALBONI, Auteur ; V. COSTANZO, Auteur ; A. MANCINI, Auteur ; M. PROSPERI, Auteur ; R. LASALA, Auteur ; Raffaella TANCREDI, Auteur ; M. L. SCATTONI, Auteur ; F. MURATORI, Auteur ; Fabio APICELLA, Auteur . - p.3829-3842. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 51-11 (November 2021) . - p.3829-3842 Mots-clés : Autism Spectrum Disorder/diagnosis  Checklist  Child  Child Behavior  Humans  Male  Siblings  Autism spectrum disorder screening  Baby sibling paradigm  Cbcl 1½-5  Familial high-risk Index. décimale : PER Périodiques Résumé : The capacity of the Child Behavior Checklist 1½-5 (CBCL 1½-5) to identify children with autism spectrum disorder (ASD) at 18 months was tested on 37 children clinically referred for ASD and 46 children at elevated likelihood of developing ASD due to having an affected brother/sister. At 30 months the clinically referred children all received a confirmatory diagnosis, and 10 out of 46 siblings received a diagnosis of ASD. CBCL 1½-5 profiles were compared with a group of matched children with typical development (effect of cognitive level controlled for). The capacity of the CBCL 1½-5 DSM Oriented-Pervasive Developmental Problems scale to differentiate correctly between children diagnosed with ASD and children with typical development appeared dependent on group ascertainment methodology. En ligne : http://dx.doi.org/10.1007/s10803-020-04838-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453

Construction of Past and Future Events in Children and Adolescents with ASD: Role of Self-relatedness and Relevance to Decision-Making / E. CIARAMELLI in Journal of Autism and Developmental Disorders, 48-9 (September 2018)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 48-9 (September 2018) . - p.2995-3009 Titre : Construction of Past and Future Events in Children and Adolescents with ASD: Role of Self-relatedness and Relevance to Decision-Making Type de document : Texte imprimé et/ou numérique Auteurs : E. CIARAMELLI, Auteur ; S. SPOGLIANTI, Auteur ; E. BERTOSSI, Auteur ; N. GENERALI, Auteur ; F. TELARUCCI, Auteur ; Raffaella TANCREDI, Auteur ; F. MURATORI, Auteur ; R. IGLIOZZI, Auteur Article en page(s) : p.2995-3009 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Delay discounting  Episodic memory  Future thinking  Theory of mind Index. décimale : PER Périodiques Résumé : We studied episodic memory and future thinking for self-relevant and other-relevant events at different levels of retrieval support, theory of mind, and delay discounting in ASD children and adolescents (ASDs). Compared to typically developing controls, ASDs produced fewer internal (episodic) but a similar number of external (semantic) details while remembering past events, imagining future events, and imagining future events happening to others, indicating a general impairment of event construction. This deficit was driven by group differences under high retrieval support, and therefore unlikely to depend on self-initiated retrieval/construction deficits. ASDs' event construction impairment related to the severity of ASD symptoms, and to theory of mind deficits. ASDs, however, showed normal delay discounting, highlighting preserved forms of future-based decision-making in ASD. En ligne : http://dx.doi.org/10.1007/s10803-018-3577-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=367 [article] Construction of Past and Future Events in Children and Adolescents with ASD: Role of Self-relatedness and Relevance to Decision-Making [Texte imprimé et/ou numérique] / E. CIARAMELLI, Auteur ; S. SPOGLIANTI, Auteur ; E. BERTOSSI, Auteur ; N. GENERALI, Auteur ; F. TELARUCCI, Auteur ; Raffaella TANCREDI, Auteur ; F. MURATORI, Auteur ; R. IGLIOZZI, Auteur . - p.2995-3009. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 48-9 (September 2018) . - p.2995-3009 Mots-clés : Autism spectrum disorder  Delay discounting  Episodic memory  Future thinking  Theory of mind Index. décimale : PER Périodiques Résumé : We studied episodic memory and future thinking for self-relevant and other-relevant events at different levels of retrieval support, theory of mind, and delay discounting in ASD children and adolescents (ASDs). Compared to typically developing controls, ASDs produced fewer internal (episodic) but a similar number of external (semantic) details while remembering past events, imagining future events, and imagining future events happening to others, indicating a general impairment of event construction. This deficit was driven by group differences under high retrieval support, and therefore unlikely to depend on self-initiated retrieval/construction deficits. ASDs' event construction impairment related to the severity of ASD symptoms, and to theory of mind deficits. ASDs, however, showed normal delay discounting, highlighting preserved forms of future-based decision-making in ASD. En ligne : http://dx.doi.org/10.1007/s10803-018-3577-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=367

CRISIS AFAR: an international collaborative study of the impact of the COVID-19 pandemic on mental health and service access in youth with autism and neurodevelopmental conditions / Patricia SEGURA ; Louise GALLAGHER ; Stelios GEORGIADES ; Panagiota PERVANIDOU ; Audrey THURM ; Lindsay ALEXANDER ; Evdokia ANAGNOSTOU ; Yuta AOKI ; Catherine S. BIRKEN ; Somer L. BISHOP ; Jessica BOI ; Carmela BRAVACCIO ; Helena BRENTANI ; Paola CANEVINI ; Alessandra CARTA ; Alice CHARACH ; Antonella COSTANTINO ; Katherine T. COST ; Elaine A. CRAVO ; Jennifer CROSBIE ; Chiara DAVICO ; Federica DONNO ; Junya FUJINO ; Alessandra GABELLONE ; Cristiane T. GEYER ; Tomoya HIROTA ; Stephen KANNE ; Makiko KAWASHIMA ; Elizabeth KELLEY ; Hosanna KIM ; Young Shin KIM ; So Hyun KIM ; Daphne J. KORCZAK ; Meng-Chuan LAI ; Lucia MARGARI ; Lucia MARZULLI ; Gabriele MASI ; Luigi MAZZONE ; Jane MCGRATH ; Suneeta MONGA ; Paola MOROSINI ; Shinichiro NAKAJIMA ; Antonio NARZISI ; Rob NICOLSON ; Aki NIKOLAIDIS ; Yoshihiro NODA ; Kerri NOWELL ; Miriam POLIZZI ; Joana PORTOLESE ; Maria Pia RICCIO ; Manabu SAITO ; Ida SCHWARTZ ; Anish K. SIMHAL ; Martina SIRACUSANO ; Stefano SOTGIU ; Jacob STROUD ; Fernando SUMIYA ; Yoshiyuki TACHIBANA ; Nicole TAKAHASHI ; Riina TAKAHASHI ; Hiroki TAMON ; Raffaella TANCREDI ; Benedetto VITIELLO ; Alessandro ZUDDAS ; Bennett LEVENTHAL ; Kathleen MERIKANGAS ; Michael P. MILHAM ; Adriana DI MARTINO in Molecular Autism, 14 (2023)  

Public ISBD [article]  inMolecular Autism > 14 (2023) . - 7 p. Titre : CRISIS AFAR: an international collaborative study of the impact of the COVID-19 pandemic on mental health and service access in youth with autism and neurodevelopmental conditions Type de document : Texte imprimé et/ou numérique Auteurs : Patricia SEGURA, Auteur ; Louise GALLAGHER, Auteur ; Stelios GEORGIADES, Auteur ; Panagiota PERVANIDOU, Auteur ; Audrey THURM, Auteur ; Lindsay ALEXANDER, Auteur ; Evdokia ANAGNOSTOU, Auteur ; Yuta AOKI, Auteur ; Catherine S. BIRKEN, Auteur ; Somer L. BISHOP, Auteur ; Jessica BOI, Auteur ; Carmela BRAVACCIO, Auteur ; Helena BRENTANI, Auteur ; Paola CANEVINI, Auteur ; Alessandra CARTA, Auteur ; Alice CHARACH, Auteur ; Antonella COSTANTINO, Auteur ; Katherine T. COST, Auteur ; Elaine A. CRAVO, Auteur ; Jennifer CROSBIE, Auteur ; Chiara DAVICO, Auteur ; Federica DONNO, Auteur ; Junya FUJINO, Auteur ; Alessandra GABELLONE, Auteur ; Cristiane T. GEYER, Auteur ; Tomoya HIROTA, Auteur ; Stephen KANNE, Auteur ; Makiko KAWASHIMA, Auteur ; Elizabeth KELLEY, Auteur ; Hosanna KIM, Auteur ; Young Shin KIM, Auteur ; So Hyun KIM, Auteur ; Daphne J. KORCZAK, Auteur ; Meng-Chuan LAI, Auteur ; Lucia MARGARI, Auteur ; Lucia MARZULLI, Auteur ; Gabriele MASI, Auteur ; Luigi MAZZONE, Auteur ; Jane MCGRATH, Auteur ; Suneeta MONGA, Auteur ; Paola MOROSINI, Auteur ; Shinichiro NAKAJIMA, Auteur ; Antonio NARZISI, Auteur ; Rob NICOLSON, Auteur ; Aki NIKOLAIDIS, Auteur ; Yoshihiro NODA, Auteur ; Kerri NOWELL, Auteur ; Miriam POLIZZI, Auteur ; Joana PORTOLESE, Auteur ; Maria Pia RICCIO, Auteur ; Manabu SAITO, Auteur ; Ida SCHWARTZ, Auteur ; Anish K. SIMHAL, Auteur ; Martina SIRACUSANO, Auteur ; Stefano SOTGIU, Auteur ; Jacob STROUD, Auteur ; Fernando SUMIYA, Auteur ; Yoshiyuki TACHIBANA, Auteur ; Nicole TAKAHASHI, Auteur ; Riina TAKAHASHI, Auteur ; Hiroki TAMON, Auteur ; Raffaella TANCREDI, Auteur ; Benedetto VITIELLO, Auteur ; Alessandro ZUDDAS, Auteur ; Bennett LEVENTHAL, Auteur ; Kathleen MERIKANGAS, Auteur ; Michael P. MILHAM, Auteur ; Adriana DI MARTINO, Auteur Article en page(s) : 7 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: Heterogeneous mental health outcomes during the COVID-19 pandemic are documented in the general population. Such heterogeneity has not been systematically assessed in youth with autism spectrum disorder (ASD) and related neurodevelopmental disorders (NDD). To identify distinct patterns of the pandemic impact and their predictors in ASD/NDD youth, we focused on pandemic-related changes in symptoms and access to services. METHODS: Using a naturalistic observational design, we assessed parent responses on the Coronavirus Health and Impact Survey Initiative (CRISIS) Adapted For Autism and Related neurodevelopmental conditions (AFAR). Cross-sectional AFAR data were aggregated across 14 European and North American sites yielding a clinically well-characterized sample of N=1275 individuals with ASD/NDD (age=11.0?+?3.6 years; n females=277). To identify subgroups with differential outcomes, we applied hierarchical clustering across eleven variables measuring changes in symptoms and access to services. Then, random forest classification assessed the importance of socio-demographics, pre-pandemic service rates, clinical severity of ASD-associated symptoms, and COVID-19 pandemic experiences/environments in predicting the outcome subgroups. RESULTS: Clustering revealed four subgroups. One subgroup-broad symptom worsening only (20%)-included youth with worsening across a range of symptoms but with service disruptions similar to the average of the aggregate sample. The other three subgroups were, relatively, clinically stable but differed in service access: primarily modified services (23%), primarily lost services (6%), and average services/symptom changes (53%). Distinct combinations of a set of pre-pandemic services, pandemic environment (e.g., COVID-19 new cases, restrictions), experiences (e.g., COVID-19 Worries), and age predicted each outcome subgroup. LIMITATIONS: Notable limitations of the study are its cross-sectional nature and focus on the first six months of the pandemic. CONCLUSIONS: Concomitantly assessing variation in changes of symptoms and service access during the first phase of the pandemic revealed differential outcome profiles in ASD/NDD youth. Subgroups were characterized by distinct prediction patterns across a set of pre- and pandemic-related experiences/contexts. Results may inform recovery efforts and preparedness in future crises; they also underscore the critical value of international data-sharing and collaborations to address the needs of those most vulnerable in times of crisis. En ligne : http://dx.doi.org/10.1186/s13229-022-00536-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513 [article] CRISIS AFAR: an international collaborative study of the impact of the COVID-19 pandemic on mental health and service access in youth with autism and neurodevelopmental conditions [Texte imprimé et/ou numérique] / Patricia SEGURA, Auteur ; Louise GALLAGHER, Auteur ; Stelios GEORGIADES, Auteur ; Panagiota PERVANIDOU, Auteur ; Audrey THURM, Auteur ; Lindsay ALEXANDER, Auteur ; Evdokia ANAGNOSTOU, Auteur ; Yuta AOKI, Auteur ; Catherine S. BIRKEN, Auteur ; Somer L. BISHOP, Auteur ; Jessica BOI, Auteur ; Carmela BRAVACCIO, Auteur ; Helena BRENTANI, Auteur ; Paola CANEVINI, Auteur ; Alessandra CARTA, Auteur ; Alice CHARACH, Auteur ; Antonella COSTANTINO, Auteur ; Katherine T. COST, Auteur ; Elaine A. CRAVO, Auteur ; Jennifer CROSBIE, Auteur ; Chiara DAVICO, Auteur ; Federica DONNO, Auteur ; Junya FUJINO, Auteur ; Alessandra GABELLONE, Auteur ; Cristiane T. GEYER, Auteur ; Tomoya HIROTA, Auteur ; Stephen KANNE, Auteur ; Makiko KAWASHIMA, Auteur ; Elizabeth KELLEY, Auteur ; Hosanna KIM, Auteur ; Young Shin KIM, Auteur ; So Hyun KIM, Auteur ; Daphne J. KORCZAK, Auteur ; Meng-Chuan LAI, Auteur ; Lucia MARGARI, Auteur ; Lucia MARZULLI, Auteur ; Gabriele MASI, Auteur ; Luigi MAZZONE, Auteur ; Jane MCGRATH, Auteur ; Suneeta MONGA, Auteur ; Paola MOROSINI, Auteur ; Shinichiro NAKAJIMA, Auteur ; Antonio NARZISI, Auteur ; Rob NICOLSON, Auteur ; Aki NIKOLAIDIS, Auteur ; Yoshihiro NODA, Auteur ; Kerri NOWELL, Auteur ; Miriam POLIZZI, Auteur ; Joana PORTOLESE, Auteur ; Maria Pia RICCIO, Auteur ; Manabu SAITO, Auteur ; Ida SCHWARTZ, Auteur ; Anish K. SIMHAL, Auteur ; Martina SIRACUSANO, Auteur ; Stefano SOTGIU, Auteur ; Jacob STROUD, Auteur ; Fernando SUMIYA, Auteur ; Yoshiyuki TACHIBANA, Auteur ; Nicole TAKAHASHI, Auteur ; Riina TAKAHASHI, Auteur ; Hiroki TAMON, Auteur ; Raffaella TANCREDI, Auteur ; Benedetto VITIELLO, Auteur ; Alessandro ZUDDAS, Auteur ; Bennett LEVENTHAL, Auteur ; Kathleen MERIKANGAS, Auteur ; Michael P. MILHAM, Auteur ; Adriana DI MARTINO, Auteur . - 7 p. Langues : Anglais (eng) in Molecular Autism > 14 (2023) . - 7 p. Index. décimale : PER Périodiques Résumé : BACKGROUND: Heterogeneous mental health outcomes during the COVID-19 pandemic are documented in the general population. Such heterogeneity has not been systematically assessed in youth with autism spectrum disorder (ASD) and related neurodevelopmental disorders (NDD). To identify distinct patterns of the pandemic impact and their predictors in ASD/NDD youth, we focused on pandemic-related changes in symptoms and access to services. METHODS: Using a naturalistic observational design, we assessed parent responses on the Coronavirus Health and Impact Survey Initiative (CRISIS) Adapted For Autism and Related neurodevelopmental conditions (AFAR). Cross-sectional AFAR data were aggregated across 14 European and North American sites yielding a clinically well-characterized sample of N=1275 individuals with ASD/NDD (age=11.0?+?3.6 years; n females=277). To identify subgroups with differential outcomes, we applied hierarchical clustering across eleven variables measuring changes in symptoms and access to services. Then, random forest classification assessed the importance of socio-demographics, pre-pandemic service rates, clinical severity of ASD-associated symptoms, and COVID-19 pandemic experiences/environments in predicting the outcome subgroups. RESULTS: Clustering revealed four subgroups. One subgroup-broad symptom worsening only (20%)-included youth with worsening across a range of symptoms but with service disruptions similar to the average of the aggregate sample. The other three subgroups were, relatively, clinically stable but differed in service access: primarily modified services (23%), primarily lost services (6%), and average services/symptom changes (53%). Distinct combinations of a set of pre-pandemic services, pandemic environment (e.g., COVID-19 new cases, restrictions), experiences (e.g., COVID-19 Worries), and age predicted each outcome subgroup. LIMITATIONS: Notable limitations of the study are its cross-sectional nature and focus on the first six months of the pandemic. CONCLUSIONS: Concomitantly assessing variation in changes of symptoms and service access during the first phase of the pandemic revealed differential outcome profiles in ASD/NDD youth. Subgroups were characterized by distinct prediction patterns across a set of pre- and pandemic-related experiences/contexts. Results may inform recovery efforts and preparedness in future crises; they also underscore the critical value of international data-sharing and collaborations to address the needs of those most vulnerable in times of crisis. En ligne : http://dx.doi.org/10.1186/s13229-022-00536-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513

A CTNNA3 compound heterozygous deletion implicates a role for alphaT-catenin in susceptibility to autism spectrum disorder / Elena BACCHELLI in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.17 Titre : A CTNNA3 compound heterozygous deletion implicates a role for alphaT-catenin in susceptibility to autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Elena BACCHELLI, Auteur ; Fabiola CERONI, Auteur ; D. PINTO, Auteur ; S. LOMARTIRE, Auteur ; M. GIANNANDREA, Auteur ; P. D'ADAMO, Auteur ; Elena BONORA, Auteur ; P. PARCHI, Auteur ; Raffaella TANCREDI, Auteur ; A. BATTAGLIA, Auteur ; E. MAESTRINI, Auteur Article en page(s) : p.17 Langues : Anglais (eng) Mots-clés : Alpha T-catenin  Autism spectrum disorder (ASD)  Ctnna3  Cell adhesion  DNA copy number variants  alphaT-catenin Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is a highly heritable, neurodevelopmental condition showing extreme genetic heterogeneity. While it is well established that rare genetic variation, both de novo and inherited, plays an important role in ASD risk, recent studies also support a rare recessive contribution. METHODS: We identified a compound heterozygous deletion intersecting the CTNNA3 gene, encoding alphaT-catenin, in a proband with ASD and moderate intellectual disability. The deletion breakpoints were mapped at base-pair resolution, and segregation analysis was performed. We compared the frequency of CTNNA3 exonic deletions in 2,147 ASD cases from the Autism Genome Project (AGP) study versus the frequency in 6,639 controls. Western blot analysis was performed to get a quantitative characterisation of Ctnna3 expression during early brain development in mouse. RESULTS: The CTNNA3 compound heterozygous deletion includes a coding exon, leading to a putative frameshift and premature stop codon. Segregation analysis in the family showed that the unaffected sister is heterozygote for the deletion, having only inherited the paternal deletion. While the frequency of CTNNA3 exonic deletions is not significantly different between ASD cases and controls, no homozygous or compound heterozygous exonic deletions were found in a sample of over 6,000 controls. Expression analysis of Ctnna3 in the mouse cortex and hippocampus (P0-P90) provided support for its role in the early stage of brain development. CONCLUSION: The finding of a rare compound heterozygous CTNNA3 exonic deletion segregating with ASD, the absence of CTNNA3 homozygous exonic deletions in controls and the high expression of Ctnna3 in both brain areas analysed implicate CTNNA3 in ASD susceptibility. En ligne : http://dx.doi.org/10.1186/1866-1955-6-17 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] A CTNNA3 compound heterozygous deletion implicates a role for alphaT-catenin in susceptibility to autism spectrum disorder [Texte imprimé et/ou numérique] / Elena BACCHELLI, Auteur ; Fabiola CERONI, Auteur ; D. PINTO, Auteur ; S. LOMARTIRE, Auteur ; M. GIANNANDREA, Auteur ; P. D'ADAMO, Auteur ; Elena BONORA, Auteur ; P. PARCHI, Auteur ; Raffaella TANCREDI, Auteur ; A. BATTAGLIA, Auteur ; E. MAESTRINI, Auteur . - p.17. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.17 Mots-clés : Alpha T-catenin  Autism spectrum disorder (ASD)  Ctnna3  Cell adhesion  DNA copy number variants  alphaT-catenin Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is a highly heritable, neurodevelopmental condition showing extreme genetic heterogeneity. While it is well established that rare genetic variation, both de novo and inherited, plays an important role in ASD risk, recent studies also support a rare recessive contribution. METHODS: We identified a compound heterozygous deletion intersecting the CTNNA3 gene, encoding alphaT-catenin, in a proband with ASD and moderate intellectual disability. The deletion breakpoints were mapped at base-pair resolution, and segregation analysis was performed. We compared the frequency of CTNNA3 exonic deletions in 2,147 ASD cases from the Autism Genome Project (AGP) study versus the frequency in 6,639 controls. Western blot analysis was performed to get a quantitative characterisation of Ctnna3 expression during early brain development in mouse. RESULTS: The CTNNA3 compound heterozygous deletion includes a coding exon, leading to a putative frameshift and premature stop codon. Segregation analysis in the family showed that the unaffected sister is heterozygote for the deletion, having only inherited the paternal deletion. While the frequency of CTNNA3 exonic deletions is not significantly different between ASD cases and controls, no homozygous or compound heterozygous exonic deletions were found in a sample of over 6,000 controls. Expression analysis of Ctnna3 in the mouse cortex and hippocampus (P0-P90) provided support for its role in the early stage of brain development. CONCLUSION: The finding of a rare compound heterozygous CTNNA3 exonic deletion segregating with ASD, the absence of CTNNA3 homozygous exonic deletions in controls and the high expression of Ctnna3 in both brain areas analysed implicate CTNNA3 in ASD susceptibility. En ligne : http://dx.doi.org/10.1186/1866-1955-6-17 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

Individual and Environmental Factors Affecting Adaptive Behavior of Toddlers with Autism Spectrum Disorder: Role of Parents' Socio-cultural Level / Giulia BALBONI in Journal of Autism and Developmental Disorders, 51-10 (October 2021)  

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Procesus d'inhibition chez les enfants avec autisme / Roberta IGLIOZZI in Bulletin Scientifique de l'arapi (Le), 12 (2003-2004)

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The effect of gender on the neuroanatomy of children with autism spectrum disorders: a support vector machine case-control study / A. RETICO in Molecular Autism, 7 (2016)  

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Tracing back to the onset of abnormal head circumference growth in Italian children with autism spectrum disorder / Filippo MURATORI in Research in Autism Spectrum Disorders, 6-1 (January-March 2012)  

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