Behavioral Evaluation of Genetic Mouse Models of Autism / Mu YANG

Public ISBD in Autism Spectrum Disorders / David G. AMARAL Titre : Behavioral Evaluation of Genetic Mouse Models of Autism Type de document : texte imprimé Auteurs : Mu YANG, Auteur ; Maria Luisa SCATTONI, Auteur ; Kathryn K. CHADMAN, Auteur ; Jill L. SILVERMAN, Auteur ; Jacqueline N. CRAWLEY, Auteur Année de publication : 2011 Importance : p.906-934 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=140 in Autism Spectrum Disorders / David G. AMARAL Behavioral Evaluation of Genetic Mouse Models of Autism [texte imprimé] / Mu YANG, Auteur ; Maria Luisa SCATTONI, Auteur ; Kathryn K. CHADMAN, Auteur ; Jill L. SILVERMAN, Auteur ; Jacqueline N. CRAWLEY, Auteur . - 2011 . - p.906-934. Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=140

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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 Auteurs : Natasha CHERICONI, Auteur ; Giulia BALBONI, Auteur ; V. COSTANZO, Auteur ; A. MANCINI, Auteur ; M. PROSPERI, Auteur ; R. LASALA, Auteur ; Raffaella TANCREDI, Auteur ; Maria Luisa 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] / Natasha CHERICONI, Auteur ; Giulia BALBONI, Auteur ; V. COSTANZO, Auteur ; A. MANCINI, Auteur ; M. PROSPERI, Auteur ; R. LASALA, Auteur ; Raffaella TANCREDI, Auteur ; Maria Luisa 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

Correction to: Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives / Álvaro BEJARANO-MARTÍN in Journal of Autism and Developmental Disorders, 50-9 (September 2020)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 50-9 (September 2020) . - p.3395-3396 Titre : Correction to: Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives Type de document : texte imprimé Auteurs : Álvaro BEJARANO-MARTÍN, Auteur ; Ricardo CANAL-BEDIA, Auteur ; María MAGÁN-MAGANTO, Auteur ; Clara FERNÁNDEZ-ÁLVAREZ, Auteur ; Maria V. MARTÍN-CILLEROS, Auteur ; María Cruz SÁNCHEZ-GÓMEZ, Auteur ; Patricia GARCÍA PRIMO, Auteur ; Mary ROSE-SWEENEY, Auteur ; Andrew Martin BOILSON, Auteur ; Renata LINERTOVÁ, Auteur ; Herbert ROEYERS, Auteur ; Sara VAN DER PAELT, Auteur ; Diana SCHENDEL, Auteur ; Christine WARBERG, Auteur ; Susanne CRAMER, Auteur ; Antonio NARZISI, Auteur ; Filippo MURATORI, Auteur ; Maria Luisa SCATTONI, Auteur ; Irma MOILANEN, Auteur ; Anneli YLIHERVA, Auteur ; Evald SAEMUNDSEN, Auteur ; Sigríður LOA JÓNSDÓTTIR, Auteur ; Magdalena EFRIM-BUDISTEANU, Auteur ; Aurora ARGHIR, Auteur ; Sorina Mihaela PAPUC, Auteur ; Astrid VICENTE, Auteur ; Célia RASGA, Auteur ; Bernadette ROGE, Auteur ; Quentin GUILLON, Auteur ; Sophie BADUEL, Auteur ; Johanna Xenia KAFKA, Auteur ; Luise POUSTKA, Auteur ; Oswald D. KOTHGASSNER, Auteur ; Rafal KAWA, Auteur ; Ewa PISULA, Auteur ; Tracey SELLERS, Auteur ; Manuel POSADA DE LA PAZ, Auteur Article en page(s) : p.3395-3396 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The original version of this article unfortunately contained a mistake in one of the co-author's family name. The correct name should be María Victoria Martín-Cilleros instead of María Victoria Cilleros-Martín. En ligne : http://dx.doi.org/10.1007/s10803-019-04303-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430 [article] Correction to: Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives [texte imprimé] / Álvaro BEJARANO-MARTÍN, Auteur ; Ricardo CANAL-BEDIA, Auteur ; María MAGÁN-MAGANTO, Auteur ; Clara FERNÁNDEZ-ÁLVAREZ, Auteur ; Maria V. MARTÍN-CILLEROS, Auteur ; María Cruz SÁNCHEZ-GÓMEZ, Auteur ; Patricia GARCÍA PRIMO, Auteur ; Mary ROSE-SWEENEY, Auteur ; Andrew Martin BOILSON, Auteur ; Renata LINERTOVÁ, Auteur ; Herbert ROEYERS, Auteur ; Sara VAN DER PAELT, Auteur ; Diana SCHENDEL, Auteur ; Christine WARBERG, Auteur ; Susanne CRAMER, Auteur ; Antonio NARZISI, Auteur ; Filippo MURATORI, Auteur ; Maria Luisa SCATTONI, Auteur ; Irma MOILANEN, Auteur ; Anneli YLIHERVA, Auteur ; Evald SAEMUNDSEN, Auteur ; Sigríður LOA JÓNSDÓTTIR, Auteur ; Magdalena EFRIM-BUDISTEANU, Auteur ; Aurora ARGHIR, Auteur ; Sorina Mihaela PAPUC, Auteur ; Astrid VICENTE, Auteur ; Célia RASGA, Auteur ; Bernadette ROGE, Auteur ; Quentin GUILLON, Auteur ; Sophie BADUEL, Auteur ; Johanna Xenia KAFKA, Auteur ; Luise POUSTKA, Auteur ; Oswald D. KOTHGASSNER, Auteur ; Rafal KAWA, Auteur ; Ewa PISULA, Auteur ; Tracey SELLERS, Auteur ; Manuel POSADA DE LA PAZ, Auteur . - p.3395-3396. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 50-9 (September 2020) . - p.3395-3396 Index. décimale : PER Périodiques Résumé : The original version of this article unfortunately contained a mistake in one of the co-author's family name. The correct name should be María Victoria Martín-Cilleros instead of María Victoria Cilleros-Martín. En ligne : http://dx.doi.org/10.1007/s10803-019-04303-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430

Determinants of satisfaction with the detection process of autism in Europe: Results from the ASDEU study / Quentin GUILLON in Autism, 26-8 (November 2022)  

Public ISBD [article]  inAutism > 26-8 (November 2022) . - p.2136-2150 Titre : Determinants of satisfaction with the detection process of autism in Europe: Results from the ASDEU study Type de document : texte imprimé Auteurs : Quentin GUILLON, Auteur ; Sophie BADUEL, Auteur ; Álvaro BEJARANO-MARTÍN, Auteur ; Ricardo CANAL-BEDIA, Auteur ; Maria MAGAN-MAGANTO, Auteur ; Clara FERNÁNDEZ-ÁLVAREZ, Auteur ; Maria Victoria MARTAN-CILLEROS, Auteur ; María Cruz SÁNCHEZ-GÓMEZ, Auteur ; Patricia GARCÍA PRIMO, Auteur ; Mary ROSE-SWEENEY, Auteur ; Andrew Martin BOILSON, Auteur ; Renata LINERTOVÁ, Auteur ; Herbert ROEYERS, Auteur ; Sara VAN DER PAELT, Auteur ; Diana SCHENDEL, Auteur ; Christine Kloster WARBERG, Auteur ; Susanne CRAMER, Auteur ; Antonio NARZISI, Auteur ; Filippo MURATORI, Auteur ; Maria Luisa SCATTONI, Auteur ; Irma MOILANEN, Auteur ; Anneli YLIHERVA, Auteur ; Evald SAEMUNDSEN, Auteur ; Sigrídur Lóa JONSDOTTIR, Auteur ; Magdalena EFRIM-BUDISTEANU, Auteur ; Aurora ARGHIR, Auteur ; Sorina Mihaela PAPUC, Auteur ; Astrid VICENTE, Auteur ; Célia RASGA, Auteur ; Johanna XENIA KAFKA, Auteur ; Luise POUSTKA, Auteur ; Oswald D. KOTHGASSNER, Auteur ; Rafal KAWA, Auteur ; Ewa PISULA, Auteur ; Tracey SELLERS, Auteur ; Manuel POSADA DE LA PAZ, Auteur ; Bernadette ROGE, Auteur Article en page(s) : p.2136-2150 Langues : Anglais (eng) Mots-clés : Child  Humans  Child, Preschool  Autistic Disorder/diagnosis/psychology  Personal Satisfaction  Autism Spectrum Disorder/diagnosis/psychology  Parents/psychology  Family  autism  early detection  parents’ experiences  satisfaction Index. décimale : PER Périodiques Résumé : Professional guidance and support in response to first concerns appears to be an important predictor of the level of satisfaction with the detection process of autism in young children. In this study, we analyzed the views of 1342 family members, including 1278 parents, who completed an online survey form collecting information about their experience and satisfaction with the early detection of autism in their child. Specifically, we were interested in how specific experiences with the detection process relate to the satisfaction with it and whether we could identify important predictors of satisfaction. The detection process is an emotionally charged period for parents, often described as painful, chaotic, and lengthy. A better understanding of their experiences is important to take appropriate action to improve the detection process. In our sample, the level of satisfaction with the detection process varied greatly from one respondent to another. Among the different experiences we considered, whether or not respondents received professional guidance and support in response to first concerns explained most of this variation. We also found that difficulty finding information about detection services, lack of professional guidance and support in response to first concerns, having to find a diagnostic service on one's own, and longer delays between confirmation of concerns and first appointment with a specialist were experiences associated with a greater likelihood of being unsatisfied. The findings of this study highlight the importance of the parent-professional relationship in the detection process and have important practical implications for health administrations to improve the detection process. En ligne : http://dx.doi.org/10.1177/13623613221080318 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=488 [article] Determinants of satisfaction with the detection process of autism in Europe: Results from the ASDEU study [texte imprimé] / Quentin GUILLON, Auteur ; Sophie BADUEL, Auteur ; Álvaro BEJARANO-MARTÍN, Auteur ; Ricardo CANAL-BEDIA, Auteur ; Maria MAGAN-MAGANTO, Auteur ; Clara FERNÁNDEZ-ÁLVAREZ, Auteur ; Maria Victoria MARTAN-CILLEROS, Auteur ; María Cruz SÁNCHEZ-GÓMEZ, Auteur ; Patricia GARCÍA PRIMO, Auteur ; Mary ROSE-SWEENEY, Auteur ; Andrew Martin BOILSON, Auteur ; Renata LINERTOVÁ, Auteur ; Herbert ROEYERS, Auteur ; Sara VAN DER PAELT, Auteur ; Diana SCHENDEL, Auteur ; Christine Kloster WARBERG, Auteur ; Susanne CRAMER, Auteur ; Antonio NARZISI, Auteur ; Filippo MURATORI, Auteur ; Maria Luisa SCATTONI, Auteur ; Irma MOILANEN, Auteur ; Anneli YLIHERVA, Auteur ; Evald SAEMUNDSEN, Auteur ; Sigrídur Lóa JONSDOTTIR, Auteur ; Magdalena EFRIM-BUDISTEANU, Auteur ; Aurora ARGHIR, Auteur ; Sorina Mihaela PAPUC, Auteur ; Astrid VICENTE, Auteur ; Célia RASGA, Auteur ; Johanna XENIA KAFKA, Auteur ; Luise POUSTKA, Auteur ; Oswald D. KOTHGASSNER, Auteur ; Rafal KAWA, Auteur ; Ewa PISULA, Auteur ; Tracey SELLERS, Auteur ; Manuel POSADA DE LA PAZ, Auteur ; Bernadette ROGE, Auteur . - p.2136-2150. Langues : Anglais (eng) in Autism > 26-8 (November 2022) . - p.2136-2150 Mots-clés : Child  Humans  Child, Preschool  Autistic Disorder/diagnosis/psychology  Personal Satisfaction  Autism Spectrum Disorder/diagnosis/psychology  Parents/psychology  Family  autism  early detection  parents’ experiences  satisfaction Index. décimale : PER Périodiques Résumé : Professional guidance and support in response to first concerns appears to be an important predictor of the level of satisfaction with the detection process of autism in young children. In this study, we analyzed the views of 1342 family members, including 1278 parents, who completed an online survey form collecting information about their experience and satisfaction with the early detection of autism in their child. Specifically, we were interested in how specific experiences with the detection process relate to the satisfaction with it and whether we could identify important predictors of satisfaction. The detection process is an emotionally charged period for parents, often described as painful, chaotic, and lengthy. A better understanding of their experiences is important to take appropriate action to improve the detection process. In our sample, the level of satisfaction with the detection process varied greatly from one respondent to another. Among the different experiences we considered, whether or not respondents received professional guidance and support in response to first concerns explained most of this variation. We also found that difficulty finding information about detection services, lack of professional guidance and support in response to first concerns, having to find a diagnostic service on one's own, and longer delays between confirmation of concerns and first appointment with a specialist were experiences associated with a greater likelihood of being unsatisfied. The findings of this study highlight the importance of the parent-professional relationship in the detection process and have important practical implications for health administrations to improve the detection process. En ligne : http://dx.doi.org/10.1177/13623613221080318 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=488

Distinct, dosage-sensitive requirements for the autism-associated factor CHD8 during cortical development / S. HURLEY in Molecular Autism, 12 (2021)  

Public ISBD [article]  inMolecular Autism > 12 (2021) . - 16 p. Titre : Distinct, dosage-sensitive requirements for the autism-associated factor CHD8 during cortical development Type de document : texte imprimé Auteurs : S. HURLEY, Auteur ; C. MOHAN, Auteur ; P. SUETTERLIN, Auteur ; R. ELLINGFORD, Auteur ; K.L.H. RIEGMAN, Auteur ; J. ELLEGOOD, Auteur ; A. CARUSO, Auteur ; C. MICHETTI, Auteur ; O. BROCK, Auteur ; R. EVANS, Auteur ; F. RUDARI, Auteur ; A. DELOGU, Auteur ; Maria Luisa SCATTONI, Auteur ; Jason P. LERCH, Auteur ; C. FERNANDES, Auteur ; M.A. BASSON, Auteur Article en page(s) : 16 p. Langues : Anglais (eng) Mots-clés : Animals  Animals, Newborn  Autistic Disorder/genetics  Behavior, Animal  Brain/diagnostic imaging/embryology/growth & development  Cell Proliferation  DNA-Binding Proteins/deficiency/genetics  Disease Models, Animal  Female  Gene Expression Regulation, Developmental  Mice, Transgenic  Phenotype  Pregnancy  Stem Cells  Tumor Suppressor Protein p53/genetics  Apoptosis  Autism  Chd8  Chromatin  Conditional knockout  Cortex  Gene expression  Hypomorph  Intermediate progenitor  Mouse  Neural progenitor  Proliferation  Tbr2  p53  Pathways plc. This work is unrelated to COMPASS Pathways plc. No other competing  interests to declare. Index. décimale : PER Périodiques Résumé : BACKGROUND: CHD8 haploinsufficiency causes autism and macrocephaly with high penetrance in the human population. Chd8 heterozygous mice exhibit relatively subtle brain overgrowth and little gene expression changes in the embryonic neocortex. The purpose of this study was to generate new, sub-haploinsufficient Chd8 mouse models to allow us to identify and study the functions of CHD8 during embryonic cortical development. METHODS: To examine the possibility that certain phenotypes may only appear at sub-heterozygous Chd8 levels in the mouse, we created an allelic series of Chd8-deficient mice to reduce CHD8 protein levels to approximately 35% (mild hypomorph), 10% (severe hypomorph) and 0% (neural-specific conditional knockout) of wildtype levels. We used RNA sequencing to compare transcriptional dysregulation, structural MRI and brain weight to investigate effects on brain size, and cell proliferation, differentiation and apoptosis markers in immunostaining assays to quantify changes in neural progenitor fate. RESULTS: Mild Chd8 hypomorphs displayed significant postnatal lethality, with surviving animals exhibiting more pronounced brain hyperplasia than heterozygotes. Over 2000 genes were dysregulated in mild hypomorphs, including autism-associated neurodevelopmental and cell cycle genes. We identify increased proliferation of non-ventricular zone TBR2+ intermediate progenitors as one potential cause of brain hyperplasia in these mutants. Severe Chd8 hypomorphs displayed even greater transcriptional dysregulation, including evidence for p53 pathway upregulation. In contrast to mild hypomorphs, these mice displayed reduced brain size and increased apoptosis in the embryonic neocortex. Homozygous, conditional deletion of Chd8 in early neuronal progenitors resulted in pronounced brain hypoplasia, partly caused by p53 target gene derepression and apoptosis in the embryonic neocortex. Limitations Our findings identify an important role for the autism-associated factor CHD8 in controlling the proliferation of intermediate progenitors in the mouse neocortex. We propose that CHD8 has a similar function in human brain development, but studies on human cells are required to confirm this. Because many of our mouse mutants with reduced CHD8 function die shortly after birth, it is not possible to fully determine to what extent reduced CHD8 function results in autism-associated behaviours in mice. CONCLUSIONS: Together, these findings identify important, dosage-sensitive functions for CHD8 in p53 pathway repression, neurodevelopmental gene expression and neural progenitor fate in the embryonic neocortex. We conclude that brain development is acutely sensitive to reduced CHD8 expression and that the varying sensitivities of different progenitor populations and cellular processes to CHD8 dosage result in non-linear effects on gene transcription and brain growth. Shaun Hurley, Conor Mohan and Philipp Suetterlin have contributed equally to this work. En ligne : http://dx.doi.org/10.1186/s13229-020-00409-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459 [article] Distinct, dosage-sensitive requirements for the autism-associated factor CHD8 during cortical development [texte imprimé] / S. HURLEY, Auteur ; C. MOHAN, Auteur ; P. SUETTERLIN, Auteur ; R. ELLINGFORD, Auteur ; K.L.H. RIEGMAN, Auteur ; J. ELLEGOOD, Auteur ; A. CARUSO, Auteur ; C. MICHETTI, Auteur ; O. BROCK, Auteur ; R. EVANS, Auteur ; F. RUDARI, Auteur ; A. DELOGU, Auteur ; Maria Luisa SCATTONI, Auteur ; Jason P. LERCH, Auteur ; C. FERNANDES, Auteur ; M.A. BASSON, Auteur . - 16 p. Langues : Anglais (eng) in Molecular Autism > 12 (2021) . - 16 p. Mots-clés : Animals  Animals, Newborn  Autistic Disorder/genetics  Behavior, Animal  Brain/diagnostic imaging/embryology/growth & development  Cell Proliferation  DNA-Binding Proteins/deficiency/genetics  Disease Models, Animal  Female  Gene Expression Regulation, Developmental  Mice, Transgenic  Phenotype  Pregnancy  Stem Cells  Tumor Suppressor Protein p53/genetics  Apoptosis  Autism  Chd8  Chromatin  Conditional knockout  Cortex  Gene expression  Hypomorph  Intermediate progenitor  Mouse  Neural progenitor  Proliferation  Tbr2  p53  Pathways plc. This work is unrelated to COMPASS Pathways plc. No other competing  interests to declare. Index. décimale : PER Périodiques Résumé : BACKGROUND: CHD8 haploinsufficiency causes autism and macrocephaly with high penetrance in the human population. Chd8 heterozygous mice exhibit relatively subtle brain overgrowth and little gene expression changes in the embryonic neocortex. The purpose of this study was to generate new, sub-haploinsufficient Chd8 mouse models to allow us to identify and study the functions of CHD8 during embryonic cortical development. METHODS: To examine the possibility that certain phenotypes may only appear at sub-heterozygous Chd8 levels in the mouse, we created an allelic series of Chd8-deficient mice to reduce CHD8 protein levels to approximately 35% (mild hypomorph), 10% (severe hypomorph) and 0% (neural-specific conditional knockout) of wildtype levels. We used RNA sequencing to compare transcriptional dysregulation, structural MRI and brain weight to investigate effects on brain size, and cell proliferation, differentiation and apoptosis markers in immunostaining assays to quantify changes in neural progenitor fate. RESULTS: Mild Chd8 hypomorphs displayed significant postnatal lethality, with surviving animals exhibiting more pronounced brain hyperplasia than heterozygotes. Over 2000 genes were dysregulated in mild hypomorphs, including autism-associated neurodevelopmental and cell cycle genes. We identify increased proliferation of non-ventricular zone TBR2+ intermediate progenitors as one potential cause of brain hyperplasia in these mutants. Severe Chd8 hypomorphs displayed even greater transcriptional dysregulation, including evidence for p53 pathway upregulation. In contrast to mild hypomorphs, these mice displayed reduced brain size and increased apoptosis in the embryonic neocortex. Homozygous, conditional deletion of Chd8 in early neuronal progenitors resulted in pronounced brain hypoplasia, partly caused by p53 target gene derepression and apoptosis in the embryonic neocortex. Limitations Our findings identify an important role for the autism-associated factor CHD8 in controlling the proliferation of intermediate progenitors in the mouse neocortex. We propose that CHD8 has a similar function in human brain development, but studies on human cells are required to confirm this. Because many of our mouse mutants with reduced CHD8 function die shortly after birth, it is not possible to fully determine to what extent reduced CHD8 function results in autism-associated behaviours in mice. CONCLUSIONS: Together, these findings identify important, dosage-sensitive functions for CHD8 in p53 pathway repression, neurodevelopmental gene expression and neural progenitor fate in the embryonic neocortex. We conclude that brain development is acutely sensitive to reduced CHD8 expression and that the varying sensitivities of different progenitor populations and cellular processes to CHD8 dosage result in non-linear effects on gene transcription and brain growth. Shaun Hurley, Conor Mohan and Philipp Suetterlin have contributed equally to this work. En ligne : http://dx.doi.org/10.1186/s13229-020-00409-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459

Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives / Álvaro BEJARANO-MARTÍN in Journal of Autism and Developmental Disorders, 50-9 (September 2020)  

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Early developmental trajectories of expressive vocabulary and gesture production in a longitudinal cohort of Italian infants at high-risk for Autism Spectrum Disorder / V. RIVA in Autism Research, 14-7 (July 2021)  

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Feedback-Driven Learning Through Eye Movements in Autism Spectrum Disorder / David SALDANA ; Mila VULCHANOVA ; Maria Luisa SCATTONI ; Martina MICAI in Autism Research, 18-7 (July 2025)  

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Gut mobilization improves behavioral symptoms and modulates urinary p-cresol in chronically constipated autistic children: A prospective study / L. TURRIZIANI in Autism Research, 15-1 (January 2022)  

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Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication / Ozlem BOZDAGI in Molecular Autism, (December 2010)  

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Intervention Services for Autistic Adults: An ASDEU Study of Autistic Adults, Carers, and Professionals' Experiences / Martina MICAI in Journal of Autism and Developmental Disorders, 52-4 (April 2022)  

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Minimal aberrant behavioral phenotypes of neuroligin-3 R451C knockin mice / Kathryn K. CHADMAN in Autism Research, 1-3 (June 2008)  

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Modeling Social Communication Deficits in Mouse Models of Autism / Caterina MICHETTI in Autism - Open Access, 2-S ([01/12/2012])  

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Mouse Behavior and Models for Autism Spectrum Disorders / Laura RICCERI  

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Program for the Education and Enrichment of Relational Skills (PEERS®) for Italy: A Randomized Controlled Trial of a Social Skills Intervention for Autistic Adolescents / Laura Maria FATTA ; Elizabeth A. LAUGESON ; Dora BIANCHI ; Fiorenzo LAGHI ; Maria Luisa SCATTONI ; ITALIAN PEERS® TEAM SUPPORT GROUP in Journal of Autism and Developmental Disorders, 55-1 (January 2025)  

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