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Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes / M. SONZOGNI in Molecular Autism, 10 (2019)
[article]
Titre : Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes Type de document : Texte imprimé et/ou numérique Auteurs : M. SONZOGNI, Auteur ; J. HAKONEN, Auteur ; M. BERNABE KLEIJN, Auteur ; S. SILVA-SANTOS, Auteur ; M. C. JUDSON, Auteur ; B. D. PHILPOT, Auteur ; G. M. VAN WOERDEN, Auteur ; Y. ELGERSMA, Auteur Article en page(s) : 23p. Langues : Anglais (eng) Mots-clés : Angelman syndrome Autism spectrum disorder Mouse model Phenotype Seizure Ube3a Index. décimale : PER Périodiques Résumé : Background: Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by mutations affecting UBE3A gene expression. Previous studies in mice revealed distinct critical periods during neurodevelopment in which reactivation of Ube3a gene expression can prevent the onset of behavioral deficits. Whether UBE3A is required for brain function throughout life is unknown. Here, we address the importance of maintaining UBE3A expression after normal brain development. Findings: Using a conditional mouse, we deleted the Ube3a gene at three ages spanning brain maturation. We assessed the consequences of Ube3a gene deletion by testing the mice in behavioral tasks previously shown to produce robust phenotypes in AS model mice. Early embryonic deletion of Ube3a recapitulated all behavioral deficits of AS mice. In contrast, Ube3a gene deletion at 3 or 12 weeks of age did not have a significant effect on most behavioral tasks and did not increase seizure sensitivity. Conclusions: Taken together, these results emphasize that UBE3A critically impacts early brain development, but plays a more limited role in adulthood. Our findings provide important considerations for upcoming clinical trials in which UBE3A gene expression is reactivated and suggest that even transient UBE3A reinstatement during a critical window of early development is likely to prevent most adverse Angelman syndrome phenotypes. However, sustained UBE3A expression into adulthood is probably needed for optimal clinical benefit. En ligne : http://dx.doi.org/10.1186/s13229-019-0277-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402
in Molecular Autism > 10 (2019) . - 23p.[article] Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes [Texte imprimé et/ou numérique] / M. SONZOGNI, Auteur ; J. HAKONEN, Auteur ; M. BERNABE KLEIJN, Auteur ; S. SILVA-SANTOS, Auteur ; M. C. JUDSON, Auteur ; B. D. PHILPOT, Auteur ; G. M. VAN WOERDEN, Auteur ; Y. ELGERSMA, Auteur . - 23p.
Langues : Anglais (eng)
in Molecular Autism > 10 (2019) . - 23p.
Mots-clés : Angelman syndrome Autism spectrum disorder Mouse model Phenotype Seizure Ube3a Index. décimale : PER Périodiques Résumé : Background: Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by mutations affecting UBE3A gene expression. Previous studies in mice revealed distinct critical periods during neurodevelopment in which reactivation of Ube3a gene expression can prevent the onset of behavioral deficits. Whether UBE3A is required for brain function throughout life is unknown. Here, we address the importance of maintaining UBE3A expression after normal brain development. Findings: Using a conditional mouse, we deleted the Ube3a gene at three ages spanning brain maturation. We assessed the consequences of Ube3a gene deletion by testing the mice in behavioral tasks previously shown to produce robust phenotypes in AS model mice. Early embryonic deletion of Ube3a recapitulated all behavioral deficits of AS mice. In contrast, Ube3a gene deletion at 3 or 12 weeks of age did not have a significant effect on most behavioral tasks and did not increase seizure sensitivity. Conclusions: Taken together, these results emphasize that UBE3A critically impacts early brain development, but plays a more limited role in adulthood. Our findings provide important considerations for upcoming clinical trials in which UBE3A gene expression is reactivated and suggest that even transient UBE3A reinstatement during a critical window of early development is likely to prevent most adverse Angelman syndrome phenotypes. However, sustained UBE3A expression into adulthood is probably needed for optimal clinical benefit. En ligne : http://dx.doi.org/10.1186/s13229-019-0277-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402 Patterns of Risk for Multiple Co-Occurring Medical Conditions Replicate Across Distinct Cohorts of Children with Autism Spectrum Disorder / Kimberly A. ALDINGER in Autism Research, 8-6 (December 2015)
[article]
Titre : Patterns of Risk for Multiple Co-Occurring Medical Conditions Replicate Across Distinct Cohorts of Children with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Kimberly A. ALDINGER, Auteur ; Christianne J. LANE, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; Pat LEVITT, Auteur Article en page(s) : p.771-781 Langues : Anglais (eng) Mots-clés : gastrointestinal disturbances sleep seizure medical symptoms Index. décimale : PER Périodiques Résumé : Children with autism spectrum disorder (ASD) may present with multiple medical conditions in addition to ASD symptoms. This study investigated whether there are predictive patterns of medical conditions that co-occur with ASD, which could inform medical evaluation and treatment in ASD, as well as potentially identify etiologically meaningful subgroups. Medical history data were queried in the multiplex family Autism Genetic Resource Exchange (AGRE). Fourteen medical conditions were analyzed. Replication in the Simons Simplex Collection (SSC) was attempted using available medical condition data on gastrointestinal disturbances (GID), sleep problems, allergy and epilepsy. In the AGRE cohort, no discrete clusters emerged among 14 medical conditions. GID and seizures were enriched in unaffected family members, and together with sleep problems, were represented in both AGRE and SSC. Further analysis of these medical conditions identified predictive co-occurring patterns in both samples. For a child with ASD, the presence of GID predicts sleep problems and vice versa, with an approximately 2-fold odds ratio in each direction. These risk patterns were replicated in the SSC sample, and in addition, there was increased risk for seizures and sleep problems to co-occur with GID. In these cohorts, seizure alone was not predictive of the other conditions co-occurring, but behavioral impairments were more severe as the number of co-occurring medical symptoms increased. These findings indicate that interdisciplinary clinical care for children with ASD will benefit from evaluation for specific patterns of medical conditions in the affected child and their family members. Autism Res 2015, 8: 771–781. © 015 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research. En ligne : http://dx.doi.org/10.1002/aur.1492 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=278
in Autism Research > 8-6 (December 2015) . - p.771-781[article] Patterns of Risk for Multiple Co-Occurring Medical Conditions Replicate Across Distinct Cohorts of Children with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Kimberly A. ALDINGER, Auteur ; Christianne J. LANE, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; Pat LEVITT, Auteur . - p.771-781.
Langues : Anglais (eng)
in Autism Research > 8-6 (December 2015) . - p.771-781
Mots-clés : gastrointestinal disturbances sleep seizure medical symptoms Index. décimale : PER Périodiques Résumé : Children with autism spectrum disorder (ASD) may present with multiple medical conditions in addition to ASD symptoms. This study investigated whether there are predictive patterns of medical conditions that co-occur with ASD, which could inform medical evaluation and treatment in ASD, as well as potentially identify etiologically meaningful subgroups. Medical history data were queried in the multiplex family Autism Genetic Resource Exchange (AGRE). Fourteen medical conditions were analyzed. Replication in the Simons Simplex Collection (SSC) was attempted using available medical condition data on gastrointestinal disturbances (GID), sleep problems, allergy and epilepsy. In the AGRE cohort, no discrete clusters emerged among 14 medical conditions. GID and seizures were enriched in unaffected family members, and together with sleep problems, were represented in both AGRE and SSC. Further analysis of these medical conditions identified predictive co-occurring patterns in both samples. For a child with ASD, the presence of GID predicts sleep problems and vice versa, with an approximately 2-fold odds ratio in each direction. These risk patterns were replicated in the SSC sample, and in addition, there was increased risk for seizures and sleep problems to co-occur with GID. In these cohorts, seizure alone was not predictive of the other conditions co-occurring, but behavioral impairments were more severe as the number of co-occurring medical symptoms increased. These findings indicate that interdisciplinary clinical care for children with ASD will benefit from evaluation for specific patterns of medical conditions in the affected child and their family members. Autism Res 2015, 8: 771–781. © 015 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research. En ligne : http://dx.doi.org/10.1002/aur.1492 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=278 Brief Report: Emergency Department Utilization by Individuals with Autism / Dorothea A. IANNUZZI in Journal of Autism and Developmental Disorders, 45-4 (April 2015)
[article]
Titre : Brief Report: Emergency Department Utilization by Individuals with Autism Type de document : Texte imprimé et/ou numérique Auteurs : Dorothea A. IANNUZZI, Auteur ; Erika R. CHENG, Auteur ; Sarabeth BRODER-FINGERT, Auteur ; Margaret L. BAUMAN, Auteur Article en page(s) : p.1096-1102 Langues : Anglais (eng) Mots-clés : Emergency department (ED) Autism (ASD) Seizure Epilepsy Psychiatric Self-injurious behavior Index. décimale : PER Périodiques Résumé : To identify medical problems most commonly presenting to emergency departments among individuals with autism as compared to non-autistic persons across age groups. Data was obtained from the 2010 National Emergency Department database and was analyzed by age categories: 3–5, 6–11, 12–15, 16–18 and 19 years and older. Epilepsy emerged as the leading presenting diagnosis among those with Autism spectrum disorder (ASD), ages 16–19 years and 19 over. Psychiatric conditions were primary among ASD individuals aged 12–15 years, accounting for more than 11 % of all visits. In this sample, age-related differences were noted in medical diagnoses among autistic individuals as compared to non-autistic persons. En ligne : http://dx.doi.org/10.1007/s10803-014-2251-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=258
in Journal of Autism and Developmental Disorders > 45-4 (April 2015) . - p.1096-1102[article] Brief Report: Emergency Department Utilization by Individuals with Autism [Texte imprimé et/ou numérique] / Dorothea A. IANNUZZI, Auteur ; Erika R. CHENG, Auteur ; Sarabeth BRODER-FINGERT, Auteur ; Margaret L. BAUMAN, Auteur . - p.1096-1102.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 45-4 (April 2015) . - p.1096-1102
Mots-clés : Emergency department (ED) Autism (ASD) Seizure Epilepsy Psychiatric Self-injurious behavior Index. décimale : PER Périodiques Résumé : To identify medical problems most commonly presenting to emergency departments among individuals with autism as compared to non-autistic persons across age groups. Data was obtained from the 2010 National Emergency Department database and was analyzed by age categories: 3–5, 6–11, 12–15, 16–18 and 19 years and older. Epilepsy emerged as the leading presenting diagnosis among those with Autism spectrum disorder (ASD), ages 16–19 years and 19 over. Psychiatric conditions were primary among ASD individuals aged 12–15 years, accounting for more than 11 % of all visits. In this sample, age-related differences were noted in medical diagnoses among autistic individuals as compared to non-autistic persons. En ligne : http://dx.doi.org/10.1007/s10803-014-2251-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=258 Mice with Impaired Met Tyrosine Kinase Signaling Demonstrate Characteristics Relevant to Autism / Jacob M. SMITH in Autism - Open Access, 2-S ([01/12/2012])
[article]
Titre : Mice with Impaired Met Tyrosine Kinase Signaling Demonstrate Characteristics Relevant to Autism Type de document : Texte imprimé et/ou numérique Auteurs : Jacob M. SMITH, Auteur ; Elizabeth M. POWELL, Auteur Article en page(s) : 8 p. Langues : Anglais (eng) Mots-clés : HGF MET Interneuron Forebrain Attentional set-shifting Reversal learning Seizure Plaur Index. décimale : PER Périodiques Résumé : Variants of MET, a receptor tyrosine kinase which binds the ligand Hepatocyte growth factor (HGF), have been linked to elevated risk for developing autism spectrum disorders (ASD) in humans. Though best known as a proto-oncogene, MET also plays important roles during normal development, including the development of the central nervous system. Recent studies in several mouse lines have shown that mice with reduced HGF-Met signaling have altered profiles of interneurons in the cortex, striatum, and hippocampus. Alterations in neuronal development, particularly in the cerebral cortex, may contribute to the pathology of developmental disorders, including autism. Other studies have shown changes in excitatory signaling in the Met-deficient cortex. Interestingly, mice with deficient Met signaling also show behavioral alterations characteristic of autism. Here we review anatomical and behavioral findings in mice with altered HGF - Met signaling. En ligne : https://dx.doi.org/10.4172/2165-7890.S1-002 ER - Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409
in Autism - Open Access > 2-S [01/12/2012] . - 8 p.[article] Mice with Impaired Met Tyrosine Kinase Signaling Demonstrate Characteristics Relevant to Autism [Texte imprimé et/ou numérique] / Jacob M. SMITH, Auteur ; Elizabeth M. POWELL, Auteur . - 8 p.
Langues : Anglais (eng)
in Autism - Open Access > 2-S [01/12/2012] . - 8 p.
Mots-clés : HGF MET Interneuron Forebrain Attentional set-shifting Reversal learning Seizure Plaur Index. décimale : PER Périodiques Résumé : Variants of MET, a receptor tyrosine kinase which binds the ligand Hepatocyte growth factor (HGF), have been linked to elevated risk for developing autism spectrum disorders (ASD) in humans. Though best known as a proto-oncogene, MET also plays important roles during normal development, including the development of the central nervous system. Recent studies in several mouse lines have shown that mice with reduced HGF-Met signaling have altered profiles of interneurons in the cortex, striatum, and hippocampus. Alterations in neuronal development, particularly in the cerebral cortex, may contribute to the pathology of developmental disorders, including autism. Other studies have shown changes in excitatory signaling in the Met-deficient cortex. Interestingly, mice with deficient Met signaling also show behavioral alterations characteristic of autism. Here we review anatomical and behavioral findings in mice with altered HGF - Met signaling. En ligne : https://dx.doi.org/10.4172/2165-7890.S1-002 ER - Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409