Absence of preference for social novelty and increased grooming in integrin β3 knockout mice: Initial studies and future directions / Michelle D. CARTER in Autism Research, 4-1 (February 2011)  

Public ISBD [article]  inAutism Research > 4-1 (February 2011) . - p.57-67 Titre : Absence of preference for social novelty and increased grooming in integrin β3 knockout mice: Initial studies and future directions Type de document : texte imprimé Auteurs : Michelle D. CARTER, Auteur ; Charisma R. SHAH, Auteur ; Christopher L. MULLER, Auteur ; Jacqueline N. CRAWLEY, Auteur ; Ana M.D. CARNEIRO, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur Année de publication : 2011 Article en page(s) : p.57-67 Langues : Anglais (eng) Mots-clés : autism  genetic  integrin  cell adhesion  serotonin  social memory  grooming  obsessive–compulsive disorder Index. décimale : PER Périodiques Résumé : Elevated whole blood serotonin 5-HT, or hyperserotonemia, is a common biomarker in autism spectrum disorder (ASD). The integrin β3 receptor subunit gene (ITGB3) is a quantitative trait locus for whole blood 5-HT levels. Recent work shows that integrin β3 interacts with the serotonin transporter (SERT) in both platelets and in the midbrain. Furthermore, multiple studies have now reported gene–gene interaction between the integrin β3 and SERT genes in association with ASD. Given the lack of previous data on the impact of integrin β3 on brain or behavioral phenotypes, we sought to compare mice with decreased or absent expression of the integrin β3 receptor subunit (Itgb3 + / − and −/ −) with wildtype littermate controls in behavioral tasks relevant to ASD. These mice did not show deficits in activity level in the open field or anxiety-like behavior on the elevated plus maze, two potential confounds in the evaluation of mouse social behavior. In the three-chamber social test, mice lacking integrin β3 were shown to have normal sociability but did not show a preference for social novelty. Importantly, the absence of integrin β3 did not impair olfaction or the ability to recall familiar social odors. Additionally, mice lacking integrin β3 showed increased grooming behavior in novel environments. These preliminary studies reveal altered social and repetitive behavior in these mice, which suggests that the integrin β3 subunit may be involved in brain systems relevant to ASD. Further work is needed to fully characterize these behavioral changes and the underlying brain mechanisms. En ligne : http://dx.doi.org/10.1002/aur.180 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=118 [article] Absence of preference for social novelty and increased grooming in integrin β3 knockout mice: Initial studies and future directions [texte imprimé] / Michelle D. CARTER, Auteur ; Charisma R. SHAH, Auteur ; Christopher L. MULLER, Auteur ; Jacqueline N. CRAWLEY, Auteur ; Ana M.D. CARNEIRO, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur . - 2011 . - p.57-67. Langues : Anglais (eng) in Autism Research > 4-1 (February 2011) . - p.57-67 Mots-clés : autism  genetic  integrin  cell adhesion  serotonin  social memory  grooming  obsessive–compulsive disorder Index. décimale : PER Périodiques Résumé : Elevated whole blood serotonin 5-HT, or hyperserotonemia, is a common biomarker in autism spectrum disorder (ASD). The integrin β3 receptor subunit gene (ITGB3) is a quantitative trait locus for whole blood 5-HT levels. Recent work shows that integrin β3 interacts with the serotonin transporter (SERT) in both platelets and in the midbrain. Furthermore, multiple studies have now reported gene–gene interaction between the integrin β3 and SERT genes in association with ASD. Given the lack of previous data on the impact of integrin β3 on brain or behavioral phenotypes, we sought to compare mice with decreased or absent expression of the integrin β3 receptor subunit (Itgb3 + / − and −/ −) with wildtype littermate controls in behavioral tasks relevant to ASD. These mice did not show deficits in activity level in the open field or anxiety-like behavior on the elevated plus maze, two potential confounds in the evaluation of mouse social behavior. In the three-chamber social test, mice lacking integrin β3 were shown to have normal sociability but did not show a preference for social novelty. Importantly, the absence of integrin β3 did not impair olfaction or the ability to recall familiar social odors. Additionally, mice lacking integrin β3 showed increased grooming behavior in novel environments. These preliminary studies reveal altered social and repetitive behavior in these mice, which suggests that the integrin β3 subunit may be involved in brain systems relevant to ASD. Further work is needed to fully characterize these behavioral changes and the underlying brain mechanisms. En ligne : http://dx.doi.org/10.1002/aur.180 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=118

Accuracy of phenotyping children with autism based on parent report: what specifically do we gain phenotyping “rapidly”? / Zachary WARREN in Autism Research, 5-1 (February 2012)  

Public ISBD [article]  inAutism Research > 5-1 (February 2012) . - p.31-38 Titre : Accuracy of phenotyping children with autism based on parent report: what specifically do we gain phenotyping “rapidly”? Type de document : texte imprimé Auteurs : Zachary WARREN, Auteur ; Alison VEHORN, Auteur ; Elizabeth DOHRMANN, Auteur ; Amy NICHOLSON, Auteur ; James S. SUTCLIFFE, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur Année de publication : 2012 Article en page(s) : p.31-38 Langues : Anglais (eng) Mots-clés : Autism  ASD  genetic studies  rapid phenotyping Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is considered among the most heritable of all neurodevelopmental and psychiatric disorders, but identification of etiologically significant genetic markers and risk variants has been hampered by a lack of sufficiently large samples. Rapid phenotyping procedures, where self-report measures are used instead of extensive clinical assessment, have been proposed as methods for amassing large genetic databases due to their hypothesized time-efficiency and affordability. We assessed the diagnostic accuracy of potential rapid phenotyping procedures using the Social Communication Questionnaire and the Social Responsiveness Scale in a sample of 333 children who also received extensive phenotypic assessments. While the rapid phenotyping measures were able to accurately identify a large number of children with ASD, they also frequently failed to differentiate children with ASD from children with other complex neurobehavioral profiles. These data support the continued need of expert clinical validation in combination with rapid phenotyping procedures in order to accurately amass large-scale genetic collections of children with ASD. En ligne : http://dx.doi.org/10.1002/aur.230 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=153 [article] Accuracy of phenotyping children with autism based on parent report: what specifically do we gain phenotyping “rapidly”? [texte imprimé] / Zachary WARREN, Auteur ; Alison VEHORN, Auteur ; Elizabeth DOHRMANN, Auteur ; Amy NICHOLSON, Auteur ; James S. SUTCLIFFE, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur . - 2012 . - p.31-38. Langues : Anglais (eng) in Autism Research > 5-1 (February 2012) . - p.31-38 Mots-clés : Autism  ASD  genetic studies  rapid phenotyping Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is considered among the most heritable of all neurodevelopmental and psychiatric disorders, but identification of etiologically significant genetic markers and risk variants has been hampered by a lack of sufficiently large samples. Rapid phenotyping procedures, where self-report measures are used instead of extensive clinical assessment, have been proposed as methods for amassing large genetic databases due to their hypothesized time-efficiency and affordability. We assessed the diagnostic accuracy of potential rapid phenotyping procedures using the Social Communication Questionnaire and the Social Responsiveness Scale in a sample of 333 children who also received extensive phenotypic assessments. While the rapid phenotyping measures were able to accurately identify a large number of children with ASD, they also frequently failed to differentiate children with ASD from children with other complex neurobehavioral profiles. These data support the continued need of expert clinical validation in combination with rapid phenotyping procedures in order to accurately amass large-scale genetic collections of children with ASD. En ligne : http://dx.doi.org/10.1002/aur.230 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=153

Adaptive Behavior in Young Autistic Children: Associations with Irritability and ADHD Symptoms / Naomi O. DAVIS ; Marina SPANOS ; Maura SABATOS-DEVITO ; Rachel AIELLO ; Grace T. BARANEK ; Scott N. COMPTON ; Helen Link EGGER ; Lauren FRANZ ; Soo-Jeong KIM ; Bryan H. KING ; Alexander KOLEVZON ; Christopher J. MCDOUGLE ; Kevin B. SANDERS ; Jeremy VEENSTRA-VANDERWEELE ; Linmarie SIKICH ; Scott H KOLLINS ; Geraldine DAWSON in Journal of Autism and Developmental Disorders, 54-9 (September 2024)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 54-9 (September 2024) . - p.3559-3566 Titre : Adaptive Behavior in Young Autistic Children: Associations with Irritability and ADHD Symptoms Type de document : texte imprimé Auteurs : Naomi O. DAVIS, Auteur ; Marina SPANOS, Auteur ; Maura SABATOS-DEVITO, Auteur ; Rachel AIELLO, Auteur ; Grace T. BARANEK, Auteur ; Scott N. COMPTON, Auteur ; Helen Link EGGER, Auteur ; Lauren FRANZ, Auteur ; Soo-Jeong KIM, Auteur ; Bryan H. KING, Auteur ; Alexander KOLEVZON, Auteur ; Christopher J. MCDOUGLE, Auteur ; Kevin B. SANDERS, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; Linmarie SIKICH, Auteur ; Scott H KOLLINS, Auteur ; Geraldine DAWSON, Auteur Article en page(s) : p.3559-3566 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Attention-deficit/hyperactivity disorder (ADHD) symptoms affect 40-60% of autistic children and have been linked to differences in adaptive behavior. It is unclear whether adaptive behavior in autistic youth is directly impacted by co-occurring ADHD symptoms or by another associated feature of both autism and ADHD, such as increased irritability. The current study examined relationships between irritability, ADHD symptoms, and adaptive behavior in 3- to 7-year-old autistic children. Results suggest that, after adjusting for co-occurring ADHD symptoms, higher levels of irritability are associated with differences in social adaptive behavior specifically. Understanding relationships between irritability, ADHD, and adaptive behavior in autistic children is critical because measures of adaptive behavior, such as the Vineland Scales of Adaptive Functioning, are often used as a proxy for global functioning, as well as for developing intervention plans and measuring outcomes as primary endpoints in clinical trials. En ligne : https://doi.org/10.1007/s10803-022-05753-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=534 [article] Adaptive Behavior in Young Autistic Children: Associations with Irritability and ADHD Symptoms [texte imprimé] / Naomi O. DAVIS, Auteur ; Marina SPANOS, Auteur ; Maura SABATOS-DEVITO, Auteur ; Rachel AIELLO, Auteur ; Grace T. BARANEK, Auteur ; Scott N. COMPTON, Auteur ; Helen Link EGGER, Auteur ; Lauren FRANZ, Auteur ; Soo-Jeong KIM, Auteur ; Bryan H. KING, Auteur ; Alexander KOLEVZON, Auteur ; Christopher J. MCDOUGLE, Auteur ; Kevin B. SANDERS, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; Linmarie SIKICH, Auteur ; Scott H KOLLINS, Auteur ; Geraldine DAWSON, Auteur . - p.3559-3566. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 54-9 (September 2024) . - p.3559-3566 Index. décimale : PER Périodiques Résumé : Attention-deficit/hyperactivity disorder (ADHD) symptoms affect 40-60% of autistic children and have been linked to differences in adaptive behavior. It is unclear whether adaptive behavior in autistic youth is directly impacted by co-occurring ADHD symptoms or by another associated feature of both autism and ADHD, such as increased irritability. The current study examined relationships between irritability, ADHD symptoms, and adaptive behavior in 3- to 7-year-old autistic children. Results suggest that, after adjusting for co-occurring ADHD symptoms, higher levels of irritability are associated with differences in social adaptive behavior specifically. Understanding relationships between irritability, ADHD, and adaptive behavior in autistic children is critical because measures of adaptive behavior, such as the Vineland Scales of Adaptive Functioning, are often used as a proxy for global functioning, as well as for developing intervention plans and measuring outcomes as primary endpoints in clinical trials. En ligne : https://doi.org/10.1007/s10803-022-05753-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=534

Analysis of neuroanatomical differences in mice with genetically modified serotonin transporters assessed by structural magnetic resonance imaging / J. ELLEGOOD in Molecular Autism, 9 (2018)  

Public ISBD [article]  inMolecular Autism > 9 (2018) . - 24p. Titre : Analysis of neuroanatomical differences in mice with genetically modified serotonin transporters assessed by structural magnetic resonance imaging Type de document : texte imprimé Auteurs : J. ELLEGOOD, Auteur ; Y. YEE, Auteur ; Travis KERR, Auteur ; Christopher L. MULLER, Auteur ; R.D. BLAKELY, Auteur ; R. Mark HENKELMAN, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; Jason P. LERCH, Auteur Article en page(s) : 24p. Langues : Anglais (eng) Mots-clés : Animals  Brain/diagnostic imaging/metabolism  Female  Magnetic Resonance Imaging  Male  Mice  Mice, Inbred C57BL  Mutation  Neurons/metabolism  Serotonin/metabolism  Serotonin Plasma Membrane Transport Proteins/genetics/metabolism  5-ht  5htt  Brain  Dorsal raphe  Magnetic resonance imaging  Neurodevelopment  Serotonin  Slc6a4 Index. décimale : PER Périodiques Résumé : Background: The serotonin (5-HT) system has long been implicated in autism spectrum disorder (ASD) as indicated by elevated whole blood and platelet 5-HT, altered platelet and brain receptor and transporter binding, and genetic linkage and association findings. Based upon work in genetically modified mice, 5-HT is known to influence several aspects of brain development, but systematic neuroimaging studies have not previously been reported. In particular, the 5-HT transporter (serotonin transporter, SERT; 5-HTT) gene, Slc6a4, has been extensively studied. Methods: Using a 7-T MRI and deformation-based morphometry, we assessed neuroanatomical differences in an Slc6a4 knockout mouse on a C57BL/6 genetic background, along with an Slc6a4 Ala56 knockin mouse on two different genetic backgrounds (129S and C57BL/6). Results: Individually (same sex, same background, same genotype), the only differences found were in the female Slc6a4 knockout mouse; all the others had no significant differences. However, an analysis of variance across the whole study sample revealed a significant effect of Slc6a4 on the amygdala, thalamus, dorsal raphe nucleus, and lateral and frontal cortices. Conclusions: This work shows that an increase or decrease in SERT function has a significant effect on the neuroanatomy in 5-HT relevant regions, particularly the raphe nuclei. Notably, the Slc6a4 Ala56 knockin alone appears to have an insignificant, but suggestive, effect compared to the KO, which is consistent with Slc6a4 function. Despite the small number of 5-HT neurons and their localization to the brainstem, it is clear that 5-HT plays an important role in neuroanatomical organization. En ligne : https://dx.doi.org/10.1186/s13229-018-0210-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371 [article] Analysis of neuroanatomical differences in mice with genetically modified serotonin transporters assessed by structural magnetic resonance imaging [texte imprimé] / J. ELLEGOOD, Auteur ; Y. YEE, Auteur ; Travis KERR, Auteur ; Christopher L. MULLER, Auteur ; R.D. BLAKELY, Auteur ; R. Mark HENKELMAN, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; Jason P. LERCH, Auteur . - 24p. Langues : Anglais (eng) in Molecular Autism > 9 (2018) . - 24p. Mots-clés : Animals  Brain/diagnostic imaging/metabolism  Female  Magnetic Resonance Imaging  Male  Mice  Mice, Inbred C57BL  Mutation  Neurons/metabolism  Serotonin/metabolism  Serotonin Plasma Membrane Transport Proteins/genetics/metabolism  5-ht  5htt  Brain  Dorsal raphe  Magnetic resonance imaging  Neurodevelopment  Serotonin  Slc6a4 Index. décimale : PER Périodiques Résumé : Background: The serotonin (5-HT) system has long been implicated in autism spectrum disorder (ASD) as indicated by elevated whole blood and platelet 5-HT, altered platelet and brain receptor and transporter binding, and genetic linkage and association findings. Based upon work in genetically modified mice, 5-HT is known to influence several aspects of brain development, but systematic neuroimaging studies have not previously been reported. In particular, the 5-HT transporter (serotonin transporter, SERT; 5-HTT) gene, Slc6a4, has been extensively studied. Methods: Using a 7-T MRI and deformation-based morphometry, we assessed neuroanatomical differences in an Slc6a4 knockout mouse on a C57BL/6 genetic background, along with an Slc6a4 Ala56 knockin mouse on two different genetic backgrounds (129S and C57BL/6). Results: Individually (same sex, same background, same genotype), the only differences found were in the female Slc6a4 knockout mouse; all the others had no significant differences. However, an analysis of variance across the whole study sample revealed a significant effect of Slc6a4 on the amygdala, thalamus, dorsal raphe nucleus, and lateral and frontal cortices. Conclusions: This work shows that an increase or decrease in SERT function has a significant effect on the neuroanatomy in 5-HT relevant regions, particularly the raphe nuclei. Notably, the Slc6a4 Ala56 knockin alone appears to have an insignificant, but suggestive, effect compared to the KO, which is consistent with Slc6a4 function. Despite the small number of 5-HT neurons and their localization to the brainstem, it is clear that 5-HT plays an important role in neuroanatomical organization. En ligne : https://dx.doi.org/10.1186/s13229-018-0210-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371

Antiepileptic Medications in Autism Spectrum Disorder: A Systematic Review and Meta-Analysis / Tomoya HIROTA in Journal of Autism and Developmental Disorders, 44-4 (April 2014)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 44-4 (April 2014) . - p.948-957 Titre : Antiepileptic Medications in Autism Spectrum Disorder: A Systematic Review and Meta-Analysis Type de document : texte imprimé Auteurs : Tomoya HIROTA, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; Eric HOLLANDER, Auteur ; Taro KISHI, Auteur Année de publication : 2014 Article en page(s) : p.948-957 Langues : Anglais (eng) Mots-clés : Antiepileptic  Mood stabilizer  Anticonvulsant  Autism  Pervasive developmental disorder Index. décimale : PER Périodiques Résumé : Electroencephalogram-recorded epileptiform activity is common in children with autism spectrum disorder (ASD), even without clinical seizures. A systematic literature search identified 7 randomized, placebo-controlled trials of antiepileptic drugs (AEDs) in ASD (total n = 171), including three of valproate, and one each of lamotrigine, levetiracetam, and topiramate. Meta-analysis revealed no significant difference between medication and placebo in four studies targeting irritability/agitation and three studies investigating global improvement, although limitations include lack of power and different medications with diverse actions. Across all seven studies, there was no significant difference in discontinuation rate between two groups. AEDs do not appear to have a large effect size to treat behavioral symptoms in ASD, but further research is needed, particularly in the subgroup of patients with epileptiform abnormalities. En ligne : http://dx.doi.org/10.1007/s10803-013-1952-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=228 [article] Antiepileptic Medications in Autism Spectrum Disorder: A Systematic Review and Meta-Analysis [texte imprimé] / Tomoya HIROTA, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; Eric HOLLANDER, Auteur ; Taro KISHI, Auteur . - 2014 . - p.948-957. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 44-4 (April 2014) . - p.948-957 Mots-clés : Antiepileptic  Mood stabilizer  Anticonvulsant  Autism  Pervasive developmental disorder Index. décimale : PER Périodiques Résumé : Electroencephalogram-recorded epileptiform activity is common in children with autism spectrum disorder (ASD), even without clinical seizures. A systematic literature search identified 7 randomized, placebo-controlled trials of antiepileptic drugs (AEDs) in ASD (total n = 171), including three of valproate, and one each of lamotrigine, levetiracetam, and topiramate. Meta-analysis revealed no significant difference between medication and placebo in four studies targeting irritability/agitation and three studies investigating global improvement, although limitations include lack of power and different medications with diverse actions. Across all seven studies, there was no significant difference in discontinuation rate between two groups. AEDs do not appear to have a large effect size to treat behavioral symptoms in ASD, but further research is needed, particularly in the subgroup of patients with epileptiform abnormalities. En ligne : http://dx.doi.org/10.1007/s10803-013-1952-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=228

Approaches to Understanding Multisensory Dysfunction in Autism Spectrum Disorder / Justin K. SIEMANN in Autism Research, 13-9 (September 2020)  

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Association of Rigid-Compulsive Behavior with Functional Constipation in Autism Spectrum Disorder / Sarah MARLER in Journal of Autism and Developmental Disorders, 47-6 (June 2017)  

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Autism spectrum disorder and schizophrenia: An updated conceptual review / Amandeep JUTLA in Autism Research, 15-3 (March 2022)  

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Brief Report: Retrospective Case Series of Oxcarbazepine for Irritability/Agitation Symptoms in Autism Spectrum Disorder / Jessica F. DOUGLAS in Journal of Autism and Developmental Disorders, 43-5 (May 2013)  

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Brief Report: Whole Blood Serotonin Levels and Gastrointestinal Symptoms in Autism Spectrum Disorder / Sarah MARLER in Journal of Autism and Developmental Disorders, 46-3 (March 2016)  

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Circuits underlying social function and dysfunction / Ziwen WANG in Autism Research, 16-7 (July 2023)  

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Development of a Brief Parent-Report Screen for Common Gastrointestinal Disorders in Autism Spectrum Disorder / Kara Gross MARGOLIS in Journal of Autism and Developmental Disorders, 49-1 (January 2019)  

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Diagnostic Yield of Chromosomal Microarray Analysis in an Autism Primary Care Practice: Which Guidelines to Implement? / Susan G. MCGREW in Journal of Autism and Developmental Disorders, 42-8 (August 2012)  

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Effects of a social stimulus on gene expression in a mouse model of fragile X syndrome / Tiffany D. ROGERS in Molecular Autism, 8 (2017)  

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Enhanced Social Dominance and Altered Neuronal Excitability in the Prefrontal Cortex of Male KCC2b Mutant Mice / A.M.J. ANACKER in Autism Research, 12-5 (May 2019)  

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