83 recherche sur le mot-clé 'Phenotype'

Exploring the Relationship Between Autism Spectrum Disorder and Epilepsy Using Latent Class Cluster Analysis / Michael L. CUCCARO in Journal of Autism and Developmental Disorders, 42-8 (August 2012)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 42-8 (August 2012) . - p.1630-1641 Titre : Exploring the Relationship Between Autism Spectrum Disorder and Epilepsy Using Latent Class Cluster Analysis Type de document : Texte imprimé et/ou numérique Auteurs : Michael L. CUCCARO, Auteur ; Roberto TUCHMAN, Auteur ; Kara L. HAMILTON-NELSON, Auteur ; Harry H. WRIGHT, Auteur ; Ruth K. ABRAMSON, Auteur ; Jonathan L. HAINES, Auteur ; John R. GILBERT, Auteur ; Margaret A. O. PERICAK-VANCE, Auteur Année de publication : 2012 Article en page(s) : p.1630-1641 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders  Epilepsy  Latent class cluster analysis  Phenotype Index. décimale : PER Périodiques Résumé : Epilepsy co-occurs frequently in autism spectrum disorders (ASD). Understanding this co-occurrence requires a better understanding of the ASD-epilepsy phenotype (or phenotypes). To address this, we conducted latent class cluster analysis (LCCA) on an ASD dataset (N = 577) which included 64 individuals with epilepsy. We identified a 5-cluster solution with one cluster showing a high rate of epilepsy (29%), earlier age at first recognition, and high rates of repetitive object use and unusual sensory interests. We also conducted LCCA on an ASD-epilepsy subset from the overall dataset (N = 64) which yielded three clusters, the largest of which had impairments in language and motor development; the remaining clusters, while not as developmentally impaired were characterized by different levels of repetitive and sensory behaviors. En ligne : http://dx.doi.org/10.1007/s10803-011-1402-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178 [article] Exploring the Relationship Between Autism Spectrum Disorder and Epilepsy Using Latent Class Cluster Analysis [Texte imprimé et/ou numérique] / Michael L. CUCCARO, Auteur ; Roberto TUCHMAN, Auteur ; Kara L. HAMILTON-NELSON, Auteur ; Harry H. WRIGHT, Auteur ; Ruth K. ABRAMSON, Auteur ; Jonathan L. HAINES, Auteur ; John R. GILBERT, Auteur ; Margaret A. O. PERICAK-VANCE, Auteur . - 2012 . - p.1630-1641. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 42-8 (August 2012) . - p.1630-1641 Mots-clés : Autism spectrum disorders  Epilepsy  Latent class cluster analysis  Phenotype Index. décimale : PER Périodiques Résumé : Epilepsy co-occurs frequently in autism spectrum disorders (ASD). Understanding this co-occurrence requires a better understanding of the ASD-epilepsy phenotype (or phenotypes). To address this, we conducted latent class cluster analysis (LCCA) on an ASD dataset (N = 577) which included 64 individuals with epilepsy. We identified a 5-cluster solution with one cluster showing a high rate of epilepsy (29%), earlier age at first recognition, and high rates of repetitive object use and unusual sensory interests. We also conducted LCCA on an ASD-epilepsy subset from the overall dataset (N = 64) which yielded three clusters, the largest of which had impairments in language and motor development; the remaining clusters, while not as developmentally impaired were characterized by different levels of repetitive and sensory behaviors. En ligne : http://dx.doi.org/10.1007/s10803-011-1402-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178

The Study to Explore Early Development (SEED): A Multisite Epidemiologic Study of Autism by the Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) Network / Diana SCHENDEL in Journal of Autism and Developmental Disorders, 42-10 (October 2012)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 42-10 (October 2012) . - p.2121-2140 Titre : The Study to Explore Early Development (SEED): A Multisite Epidemiologic Study of Autism by the Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) Network Type de document : Texte imprimé et/ou numérique Auteurs : Diana SCHENDEL, Auteur ; Carolyn G. DIGUISEPPI, Auteur ; Lisa A. CROEN, Auteur ; M. Daniele FALLIN, Auteur ; Phil REED, Auteur ; Laura A. SCHIEVE, Auteur ; Lisa D. WIGGINS, Auteur ; Julie L. DANIELS, Auteur ; Judith K. GRETHER, Auteur ; Susan E. LEVY, Auteur ; Lisa MILLER, Auteur ; Craig J. NEWSCHAFFER, Auteur ; Jennifer A. PINTO-MARTIN, Auteur ; Cordelia ROBINSON, Auteur ; Gayle C. WINDHAM, Auteur ; Aimee A. ALEXANDER, Auteur ; Arthur S. AYLSWORTH, Auteur ; Pilar BERNAL, Auteur ; Joseph D. BONNER, Auteur ; Lisa BLASKEY, Auteur ; Chyrise BRADLEY, Auteur ; Jack COLLINS, Auteur ; Casara J. FERRETTI, Auteur ; Homayoon FARZADEGAN, Auteur ; Ellen GIARELLI, Auteur ; Marques HARVEY, Auteur ; Susan HEPBURN, Auteur ; Matthew HERR, Auteur ; Kristina KAPARICH, Auteur ; Rebecca LANDA, Auteur ; Li-Ching LEE, Auteur ; Brooke LEVENSELLER, Auteur ; Stacey MEYERER, Auteur ; Mohammad Hossein RAHBAR, Auteur ; Andria RATCHFORD, Auteur ; Ann REYNOLDS, Auteur ; Steven ROSENBERG, Auteur ; Julie RUSYNIAK, Auteur ; Stuart K. SHAPIRA, Auteur ; Karen S. SMITH, Auteur ; Margaret SOUDERS, Auteur ; Patrick Aaron THOMPSON, Auteur ; Lisa YOUNG, Auteur ; Marshalyn YEARGIN-ALLSOPP, Auteur Année de publication : 2012 Article en page(s) : p.2121-2140 Langues : Anglais (eng) Mots-clés : Autism  Epidemiology  Study methods  Risk factors  Phenotype Index. décimale : PER Périodiques Résumé : The Study to Explore Early Development (SEED), a multisite investigation addressing knowledge gaps in autism phenotype and etiology, aims to: (1) characterize the autism behavioral phenotype and associated developmental, medical, and behavioral conditions and (2) investigate genetic and environmental risks with emphasis on immunologic, hormonal, gastrointestinal, and sociodemographic characteristics. SEED uses a case–control design with population-based ascertainment of children aged 2–5 years with an autism spectrum disorder (ASD) and children in two control groups—one from the general population and one with non-ASD developmental problems. Data from parent-completed questionnaires, interviews, clinical evaluations, biospecimen sampling, and medical record abstraction focus on the prenatal and early postnatal periods. SEED is a valuable resource for testing hypotheses regarding ASD characteristics and causes. En ligne : http://dx.doi.org/10.1007/s10803-012-1461-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=180 [article] The Study to Explore Early Development (SEED): A Multisite Epidemiologic Study of Autism by the Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) Network [Texte imprimé et/ou numérique] / Diana SCHENDEL, Auteur ; Carolyn G. DIGUISEPPI, Auteur ; Lisa A. CROEN, Auteur ; M. Daniele FALLIN, Auteur ; Phil REED, Auteur ; Laura A. SCHIEVE, Auteur ; Lisa D. WIGGINS, Auteur ; Julie L. DANIELS, Auteur ; Judith K. GRETHER, Auteur ; Susan E. LEVY, Auteur ; Lisa MILLER, Auteur ; Craig J. NEWSCHAFFER, Auteur ; Jennifer A. PINTO-MARTIN, Auteur ; Cordelia ROBINSON, Auteur ; Gayle C. WINDHAM, Auteur ; Aimee A. ALEXANDER, Auteur ; Arthur S. AYLSWORTH, Auteur ; Pilar BERNAL, Auteur ; Joseph D. BONNER, Auteur ; Lisa BLASKEY, Auteur ; Chyrise BRADLEY, Auteur ; Jack COLLINS, Auteur ; Casara J. FERRETTI, Auteur ; Homayoon FARZADEGAN, Auteur ; Ellen GIARELLI, Auteur ; Marques HARVEY, Auteur ; Susan HEPBURN, Auteur ; Matthew HERR, Auteur ; Kristina KAPARICH, Auteur ; Rebecca LANDA, Auteur ; Li-Ching LEE, Auteur ; Brooke LEVENSELLER, Auteur ; Stacey MEYERER, Auteur ; Mohammad Hossein RAHBAR, Auteur ; Andria RATCHFORD, Auteur ; Ann REYNOLDS, Auteur ; Steven ROSENBERG, Auteur ; Julie RUSYNIAK, Auteur ; Stuart K. SHAPIRA, Auteur ; Karen S. SMITH, Auteur ; Margaret SOUDERS, Auteur ; Patrick Aaron THOMPSON, Auteur ; Lisa YOUNG, Auteur ; Marshalyn YEARGIN-ALLSOPP, Auteur . - 2012 . - p.2121-2140. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 42-10 (October 2012) . - p.2121-2140 Mots-clés : Autism  Epidemiology  Study methods  Risk factors  Phenotype Index. décimale : PER Périodiques Résumé : The Study to Explore Early Development (SEED), a multisite investigation addressing knowledge gaps in autism phenotype and etiology, aims to: (1) characterize the autism behavioral phenotype and associated developmental, medical, and behavioral conditions and (2) investigate genetic and environmental risks with emphasis on immunologic, hormonal, gastrointestinal, and sociodemographic characteristics. SEED uses a case–control design with population-based ascertainment of children aged 2–5 years with an autism spectrum disorder (ASD) and children in two control groups—one from the general population and one with non-ASD developmental problems. Data from parent-completed questionnaires, interviews, clinical evaluations, biospecimen sampling, and medical record abstraction focus on the prenatal and early postnatal periods. SEED is a valuable resource for testing hypotheses regarding ASD characteristics and causes. En ligne : http://dx.doi.org/10.1007/s10803-012-1461-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=180

Age differences in broader autism phenotype traits from young adulthood to older adulthood / W. J. CHOPIK in Autism Research, 14-7 (July 2021)  

Public ISBD [article]  inAutism Research > 14-7 (July 2021) . - p.1456-1471 Titre : Age differences in broader autism phenotype traits from young adulthood to older adulthood Type de document : Texte imprimé et/ou numérique Auteurs : W. J. CHOPIK, Auteur ; J. OH, Auteur ; A. K. NUTTALL, Auteur ; K. N. THAKKAR, Auteur ; Brooke R. INGERSOLL, Auteur Article en page(s) : p.1456-1471 Langues : Anglais (eng) Mots-clés : Adult  Aged  Autism Spectrum Disorder  Autistic Disorder  Cross-Sectional Studies  Female  Humans  Male  Middle Aged  Phenotype  Surveys and Questionnaires  Young Adult  age differences  autism spectrum disorders  broader autism phenotype  lifespan development  personality Index. décimale : PER Périodiques Résumé : Much of past research has been dedicated to refining the operationalization and correlates of the broader autism phenotype (BAP) and less on how the BAP differs by socio-demographic characteristics, like age-particularly after midlife. This gap is important because other nonclinical trait-like characteristics (e.g., personality) have shown considerable age differences, leading to work assessing the malleability of psychological characteristics and improving outcomes for individuals and their significant others. In the current study, we examined cross-sectional age differences in the BAP in a large sample of adults ranging in age from 18 to 85. We recruited a sample of 2966 adults ranging in age from 18 to 85 (M(age) = 36.53, SD = 12.61; 58.9% Female; 1.1% with an ASD diagnosis) recruited from an online survey service. We found that total BAP scores were higher in younger adults and lower among older adults. These differences were particularly true for pragmatic language difficulties, with this component of the BAP showing the most dramatic age differences. Aloofness showed similar negative associations with age, albeit much smaller. Rigidity was not significantly associated with age. The results are consistent with other research showing an abatement of symptoms among individuals with autism spectrum disorders (ASDs) across early life and theories predicting changes in other psychological characteristics (e.g., personality). The results are discussed in the context of the malleability of ASD and BAP traits across life, the clinical implications of these changes, and the origins and consequences for lifespan differences in BAP. LAY SUMMARY: Little is known about how subclinical autistic-like traits among middle-aged and older adults compare to younger adults. We found that these subclinical traits were highest in young adults and lowest in older adults. Knowing how these traits differ by age can provide researchers and clinicians with a sense of how much these traits might change across life, if the traits might be sensitive to interventions, and when in development it might be best to intervene. En ligne : http://dx.doi.org/10.1002/aur.2504 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449 [article] Age differences in broader autism phenotype traits from young adulthood to older adulthood [Texte imprimé et/ou numérique] / W. J. CHOPIK, Auteur ; J. OH, Auteur ; A. K. NUTTALL, Auteur ; K. N. THAKKAR, Auteur ; Brooke R. INGERSOLL, Auteur . - p.1456-1471. Langues : Anglais (eng) in Autism Research > 14-7 (July 2021) . - p.1456-1471 Mots-clés : Adult  Aged  Autism Spectrum Disorder  Autistic Disorder  Cross-Sectional Studies  Female  Humans  Male  Middle Aged  Phenotype  Surveys and Questionnaires  Young Adult  age differences  autism spectrum disorders  broader autism phenotype  lifespan development  personality Index. décimale : PER Périodiques Résumé : Much of past research has been dedicated to refining the operationalization and correlates of the broader autism phenotype (BAP) and less on how the BAP differs by socio-demographic characteristics, like age-particularly after midlife. This gap is important because other nonclinical trait-like characteristics (e.g., personality) have shown considerable age differences, leading to work assessing the malleability of psychological characteristics and improving outcomes for individuals and their significant others. In the current study, we examined cross-sectional age differences in the BAP in a large sample of adults ranging in age from 18 to 85. We recruited a sample of 2966 adults ranging in age from 18 to 85 (M(age) = 36.53, SD = 12.61; 58.9% Female; 1.1% with an ASD diagnosis) recruited from an online survey service. We found that total BAP scores were higher in younger adults and lower among older adults. These differences were particularly true for pragmatic language difficulties, with this component of the BAP showing the most dramatic age differences. Aloofness showed similar negative associations with age, albeit much smaller. Rigidity was not significantly associated with age. The results are consistent with other research showing an abatement of symptoms among individuals with autism spectrum disorders (ASDs) across early life and theories predicting changes in other psychological characteristics (e.g., personality). The results are discussed in the context of the malleability of ASD and BAP traits across life, the clinical implications of these changes, and the origins and consequences for lifespan differences in BAP. LAY SUMMARY: Little is known about how subclinical autistic-like traits among middle-aged and older adults compare to younger adults. We found that these subclinical traits were highest in young adults and lowest in older adults. Knowing how these traits differ by age can provide researchers and clinicians with a sense of how much these traits might change across life, if the traits might be sensitive to interventions, and when in development it might be best to intervene. En ligne : http://dx.doi.org/10.1002/aur.2504 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449

Brief Report: Macrocephaly Phenotype and Psychiatric Comorbidity in a Clinical Sample of Mexican Children and Adolescents with Autism Spectrum Disorders / Lilia ALBORES-GALLO in Journal of Autism and Developmental Disorders, 47-9 (September 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-9 (September 2017) . - p.2911-2917 Titre : Brief Report: Macrocephaly Phenotype and Psychiatric Comorbidity in a Clinical Sample of Mexican Children and Adolescents with Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Lilia ALBORES-GALLO, Auteur ; Laura FRITSCHE-GARCÍA, Auteur ; Arturo Pabel MIRANDA-AGUIRRE, Auteur ; Montserrat AVILA-ACOSTA, Auteur Article en page(s) : p.2911-2917 Langues : Anglais (eng) Mots-clés : Macrocephaly  Microcephaly  Phenotype  Autism spectrum disorders  Comorbidity Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) may present with macrocephaly. Few studies have analyzed the association with psychiatric comorbidity. Participants were 94 children with any ASD with an age range from 2 to 16 years (Mdn 6 years), 82% were boys. It was found that 20% of the sample had macrocephaly and 1% microcephaly. There was no association between the presence of macrocephaly and subtype of ASD. The most associated comorbidity was attention-deficit/hyperactivity disorder (ADHD) 54.2%, followed by specific phobia 34%, dysthimia 29.7%, oppositional defiant disorder 13.83% motor tics 11.7%, separation anxiety 9.5% and Gilles de la Tourette 8.5%. In conclusion, macrocephaly and psychiatric comorbidity in this clinical sample of children with ASD is similar to the international literature results. En ligne : https://doi.org/10.1007/s10803-017-3175-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=316 [article] Brief Report: Macrocephaly Phenotype and Psychiatric Comorbidity in a Clinical Sample of Mexican Children and Adolescents with Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Lilia ALBORES-GALLO, Auteur ; Laura FRITSCHE-GARCÍA, Auteur ; Arturo Pabel MIRANDA-AGUIRRE, Auteur ; Montserrat AVILA-ACOSTA, Auteur . - p.2911-2917. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-9 (September 2017) . - p.2911-2917 Mots-clés : Macrocephaly  Microcephaly  Phenotype  Autism spectrum disorders  Comorbidity Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) may present with macrocephaly. Few studies have analyzed the association with psychiatric comorbidity. Participants were 94 children with any ASD with an age range from 2 to 16 years (Mdn 6 years), 82% were boys. It was found that 20% of the sample had macrocephaly and 1% microcephaly. There was no association between the presence of macrocephaly and subtype of ASD. The most associated comorbidity was attention-deficit/hyperactivity disorder (ADHD) 54.2%, followed by specific phobia 34%, dysthimia 29.7%, oppositional defiant disorder 13.83% motor tics 11.7%, separation anxiety 9.5% and Gilles de la Tourette 8.5%. In conclusion, macrocephaly and psychiatric comorbidity in this clinical sample of children with ASD is similar to the international literature results. En ligne : https://doi.org/10.1007/s10803-017-3175-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=316

Cerebellar demyelination and neurodegeneration associated with mTORC1 hyperactivity may contribute to the developmental onset of autism-like neurobehavioral phenotype in a rat model / Viera KUTNA in Autism Research, 15-5 (May 2022)  

Public ISBD [article]  inAutism Research > 15-5 (May 2022) . - p.791-805 Titre : Cerebellar demyelination and neurodegeneration associated with mTORC1 hyperactivity may contribute to the developmental onset of autism-like neurobehavioral phenotype in a rat model Type de document : Texte imprimé et/ou numérique Auteurs : Viera KUTNA, Auteur ; Valerie BRID O'LEARY, Auteur ; Cyril HOSCHL, Auteur ; Saak V. OVSEPIAN, Auteur Article en page(s) : p.791-805 Langues : Anglais (eng) Mots-clés : Animals  Autism Spectrum Disorder  Autistic Disorder  Cerebellum/metabolism  Demyelinating Diseases/complications/metabolism  Epilepsy/complications  Humans  Mechanistic Target of Rapamycin Complex 1/genetics/metabolism  Phenotype  Rats  Tuberous Sclerosis  Purkinje neurons  cerebellum  demyelination  mTORC1 signaling  microglia activation  synaptophysin Index. décimale : PER Périodiques Résumé : The cerebellum hosts more than half of all neurons of the human brain, with their organized activity playing a key role in coordinating motor functions. Cerebellar activity has also been implicated in the control of speech, communication, and social behavior, which are compromised in autism spectrum disorders (ASD). Despite major research advances, there is a shortage of mechanistic data relating cellular and molecular changes in the cerebellum to autistic behavior. We studied the impact of tuberous sclerosis complex 2 haploinsufficiency (Tsc2+/-) with downstream mTORC1 hyperactivity on cerebellar morphology and cellular organization in 1, 9, and 18?m.o. Eker rats, to determine possible structural correlates of an autism-like behavioural phenotype in this model. We report a greater developmental expansion of the cerebellar vermis, owing to enlarged white matter and thickened molecular layer. Histochemical and immunofluorescence data suggest age-related demyelination of central tract of the vermis, as evident from reduced level of myelin-basic protein in the arbora vitae. We also observed a higher number of astrocytes in Tsc2+/- rats of older age while the number of Purkinje cells (PCs) in these animals was lower than in wild-type controls. Unlike astrocytes and PCs, Bergmann glia remained unaltered at all ages in both genotypes, while the number of microglia was higher in Tsc2+/- rats of older age. The convergent evidence for a variety of age-dependent cellular changes in the cerebellum of rats associated with mTORC1 hyperactivity, thus, predicts an array of functional impairments, which may contribute to the developmental onset of an autism-like behavioral phenotype in this model. LAY SUMMARY: This study elucidates the impact of constitutive mTORC1 hyperactivity on cerebellar morphology and cellular organization in a rat model of autism and epilepsy. It describes age-dependent degeneration of Purkinje neurons, with demyelination of central tract as well as activation of microglia, and discusses the implications of these changes for neuro-behavioral phenotypes. The described changes provide new indications for the putative mechanisms underlying cerebellar impairments with their age-related onset, which may contribute to the pathobiology of autism, epilepsy, and related disorders. En ligne : http://dx.doi.org/10.1002/aur.2688 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473 [article] Cerebellar demyelination and neurodegeneration associated with mTORC1 hyperactivity may contribute to the developmental onset of autism-like neurobehavioral phenotype in a rat model [Texte imprimé et/ou numérique] / Viera KUTNA, Auteur ; Valerie BRID O'LEARY, Auteur ; Cyril HOSCHL, Auteur ; Saak V. OVSEPIAN, Auteur . - p.791-805. Langues : Anglais (eng) in Autism Research > 15-5 (May 2022) . - p.791-805 Mots-clés : Animals  Autism Spectrum Disorder  Autistic Disorder  Cerebellum/metabolism  Demyelinating Diseases/complications/metabolism  Epilepsy/complications  Humans  Mechanistic Target of Rapamycin Complex 1/genetics/metabolism  Phenotype  Rats  Tuberous Sclerosis  Purkinje neurons  cerebellum  demyelination  mTORC1 signaling  microglia activation  synaptophysin Index. décimale : PER Périodiques Résumé : The cerebellum hosts more than half of all neurons of the human brain, with their organized activity playing a key role in coordinating motor functions. Cerebellar activity has also been implicated in the control of speech, communication, and social behavior, which are compromised in autism spectrum disorders (ASD). Despite major research advances, there is a shortage of mechanistic data relating cellular and molecular changes in the cerebellum to autistic behavior. We studied the impact of tuberous sclerosis complex 2 haploinsufficiency (Tsc2+/-) with downstream mTORC1 hyperactivity on cerebellar morphology and cellular organization in 1, 9, and 18?m.o. Eker rats, to determine possible structural correlates of an autism-like behavioural phenotype in this model. We report a greater developmental expansion of the cerebellar vermis, owing to enlarged white matter and thickened molecular layer. Histochemical and immunofluorescence data suggest age-related demyelination of central tract of the vermis, as evident from reduced level of myelin-basic protein in the arbora vitae. We also observed a higher number of astrocytes in Tsc2+/- rats of older age while the number of Purkinje cells (PCs) in these animals was lower than in wild-type controls. Unlike astrocytes and PCs, Bergmann glia remained unaltered at all ages in both genotypes, while the number of microglia was higher in Tsc2+/- rats of older age. The convergent evidence for a variety of age-dependent cellular changes in the cerebellum of rats associated with mTORC1 hyperactivity, thus, predicts an array of functional impairments, which may contribute to the developmental onset of an autism-like behavioral phenotype in this model. LAY SUMMARY: This study elucidates the impact of constitutive mTORC1 hyperactivity on cerebellar morphology and cellular organization in a rat model of autism and epilepsy. It describes age-dependent degeneration of Purkinje neurons, with demyelination of central tract as well as activation of microglia, and discusses the implications of these changes for neuro-behavioral phenotypes. The described changes provide new indications for the putative mechanisms underlying cerebellar impairments with their age-related onset, which may contribute to the pathobiology of autism, epilepsy, and related disorders. En ligne : http://dx.doi.org/10.1002/aur.2688 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473

Characterizing the ASD-ADHD phenotype: measurement structure and invariance in a clinical sample / Aneta D. KRAKOWSKI in Journal of Child Psychology and Psychiatry, 63-12 (December 2022)  

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A constellation of eye-tracking measures reveals social attention differences in ASD and the broad autism phenotype / Kritika NAYAR in Molecular Autism, 13 (2022)  

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Is it Possible to Assess the Two-Domain Definition of the Broad Autism Phenotype Using the Available Measurement Tools? / M. GODOY-GIMENEZ in Journal of Autism and Developmental Disorders, 52-7 (July 2022)  

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Maternal Pragmatic Language Difficulties in the FMR1 Premutation and the Broad Autism Phenotype: Associations with Individual and Family Outcomes / J. KLUSEK in Journal of Autism and Developmental Disorders, 52-2 (February 2022)  

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Mediating Effect of Emotional and Social Competences on Interrelations Between Gender, Age and the Broad Autism Phenotype / K. MARKIEWICZ in Journal of Autism and Developmental Disorders, 51-9 (September 2021)  

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