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 et/ou numérique 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 : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=1182 [article] Absence of preference for social novelty and increased grooming in integrin β3 knockout mice: Initial studies and future directions [Texte imprimé et/ou numérique] / 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 : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=1182

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 et/ou numérique 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 : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=1535 [article] Accuracy of phenotyping children with autism based on parent report: what specifically do we gain phenotyping “rapidly”? [Texte imprimé et/ou numérique] / 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 : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=1535

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 et/ou numérique 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 : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=2288 [article] Antiepileptic Medications in Autism Spectrum Disorder: A Systematic Review and Meta-Analysis [Texte imprimé et/ou numérique] / 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 : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=2288

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

Public ISBD [article]  inAutism Research > 13-9 (September 2020) . - p.1430-1449 Titre : Approaches to Understanding Multisensory Dysfunction in Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Justin K. SIEMANN, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; Mark T. WALLACE, Auteur Article en page(s) : p.1430-1449 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Abnormal sensory responses are a DSM-5 symptom of autism spectrum disorder (ASD), and research findings demonstrate altered sensory processing in ASD. Beyond difficulties with processing information within single sensory domains, including both hypersensitivity and hyposensitivity, difficulties in multisensory processing are becoming a core issue of focus in ASD. These difficulties may be targeted by treatment approaches such as “sensory integration,” which is frequently applied in autism treatment but not yet based on clear evidence. Recently, psychophysical data have emerged to demonstrate multisensory deficits in some children with ASD. Unlike deficits in social communication, which are best understood in humans, sensory and multisensory changes offer a tractable marker of circuit dysfunction that is more easily translated into animal model systems to probe the underlying neurobiological mechanisms. Paralleling experimental paradigms that were previously applied in humans and larger mammals, we and others have demonstrated that multisensory function can also be examined behaviorally in rodents. Here, we review the sensory and multisensory difficulties commonly found in ASD, examining laboratory findings that relate these findings across species. Next, we discuss the known neurobiology of multisensory integration, drawing largely on experimental work in larger mammals, and extensions of these paradigms into rodents. Finally, we describe emerging investigations into multisensory processing in genetic mouse models related to autism risk. By detailing findings from humans to mice, we highlight the advantage of multisensory paradigms that can be easily translated across species, as well as the potential for rodent experimental systems to reveal opportunities for novel treatments. Lay Summary Sensory and multisensory deficits are commonly found in ASD and may result in cascading effects that impact social communication. By using similar experiments to those in humans, we discuss how studies in animal models may allow an understanding of the brain mechanisms that underlie difficulties in multisensory integration, with the ultimate goal of developing new treatments. Autism Res 2020, 13: 1430–1449. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.2375 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=4311 [article] Approaches to Understanding Multisensory Dysfunction in Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Justin K. SIEMANN, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; Mark T. WALLACE, Auteur . - p.1430-1449. Langues : Anglais (eng) in Autism Research > 13-9 (September 2020) . - p.1430-1449 Index. décimale : PER Périodiques Résumé : Abnormal sensory responses are a DSM-5 symptom of autism spectrum disorder (ASD), and research findings demonstrate altered sensory processing in ASD. Beyond difficulties with processing information within single sensory domains, including both hypersensitivity and hyposensitivity, difficulties in multisensory processing are becoming a core issue of focus in ASD. These difficulties may be targeted by treatment approaches such as “sensory integration,” which is frequently applied in autism treatment but not yet based on clear evidence. Recently, psychophysical data have emerged to demonstrate multisensory deficits in some children with ASD. Unlike deficits in social communication, which are best understood in humans, sensory and multisensory changes offer a tractable marker of circuit dysfunction that is more easily translated into animal model systems to probe the underlying neurobiological mechanisms. Paralleling experimental paradigms that were previously applied in humans and larger mammals, we and others have demonstrated that multisensory function can also be examined behaviorally in rodents. Here, we review the sensory and multisensory difficulties commonly found in ASD, examining laboratory findings that relate these findings across species. Next, we discuss the known neurobiology of multisensory integration, drawing largely on experimental work in larger mammals, and extensions of these paradigms into rodents. Finally, we describe emerging investigations into multisensory processing in genetic mouse models related to autism risk. By detailing findings from humans to mice, we highlight the advantage of multisensory paradigms that can be easily translated across species, as well as the potential for rodent experimental systems to reveal opportunities for novel treatments. Lay Summary Sensory and multisensory deficits are commonly found in ASD and may result in cascading effects that impact social communication. By using similar experiments to those in humans, we discuss how studies in animal models may allow an understanding of the brain mechanisms that underlie difficulties in multisensory integration, with the ultimate goal of developing new treatments. Autism Res 2020, 13: 1430–1449. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.2375 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=4311

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)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-6 (June 2017) . - p.1673-1681 Titre : Association of Rigid-Compulsive Behavior with Functional Constipation in Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Sarah MARLER, Auteur ; Bradley J. FERGUSON, Auteur ; Evon BATEY LEE, Auteur ; Brittany PETERS, Auteur ; Kent C. WILLIAMS, Auteur ; Erin MCDONNELL, Auteur ; Eric A. MACKLIN, Auteur ; Pat LEVITT, Auteur ; Kara GROSS MARGOLIS, Auteur ; David Q. BEVERSDORF, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur Article en page(s) : p.1673-1681 Langues : Anglais (eng) Mots-clés : Developmental  Gut  Enteric Medical comorbidity  Obsessive compulsive disorder  Serotonin  Microbiome Index. décimale : PER Périodiques Résumé : Based upon checklist data from the Autism Speaks Autism Treatment Network, we hypothesized that functional constipation (FC) would be associated with rigid-compulsive behavior in children with autism spectrum disorder (ASD). We used the Questionnaire on Pediatric Gastrointestinal Symptoms—Rome III to assess FC symptoms in 108 children with ASD. As hypothesized, FC was associated with parent ratings on the Repetitive Behavior Scales—Revised (RBS-R) Compulsive, Ritualistic, and Sameness subscales in the overall population. Of note, FC was less common in children who were not taking medications that target behavior or treat FC. In the medication-free children, rigid-compulsive behavior was not significantly associated with FC. More research is needed to understand the mechanisms underlying these associations. En ligne : http://dx.doi.org/10.1007/s10803-017-3084-6 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=3080 [article] Association of Rigid-Compulsive Behavior with Functional Constipation in Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Sarah MARLER, Auteur ; Bradley J. FERGUSON, Auteur ; Evon BATEY LEE, Auteur ; Brittany PETERS, Auteur ; Kent C. WILLIAMS, Auteur ; Erin MCDONNELL, Auteur ; Eric A. MACKLIN, Auteur ; Pat LEVITT, Auteur ; Kara GROSS MARGOLIS, Auteur ; David Q. BEVERSDORF, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur . - p.1673-1681. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-6 (June 2017) . - p.1673-1681 Mots-clés : Developmental  Gut  Enteric Medical comorbidity  Obsessive compulsive disorder  Serotonin  Microbiome Index. décimale : PER Périodiques Résumé : Based upon checklist data from the Autism Speaks Autism Treatment Network, we hypothesized that functional constipation (FC) would be associated with rigid-compulsive behavior in children with autism spectrum disorder (ASD). We used the Questionnaire on Pediatric Gastrointestinal Symptoms—Rome III to assess FC symptoms in 108 children with ASD. As hypothesized, FC was associated with parent ratings on the Repetitive Behavior Scales—Revised (RBS-R) Compulsive, Ritualistic, and Sameness subscales in the overall population. Of note, FC was less common in children who were not taking medications that target behavior or treat FC. In the medication-free children, rigid-compulsive behavior was not significantly associated with FC. More research is needed to understand the mechanisms underlying these associations. En ligne : http://dx.doi.org/10.1007/s10803-017-3084-6 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=3080

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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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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Erratum: Accuracy of Phenotyping Children With Autism Based on Parent Report: What Specifically Do We Gain Phenotyping “Rapidly”? / Zachary WARREN in Autism Research, 5-2 (April 2012)  

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Genetic and epigenetic signatures associated with plasma oxytocin levels in children and adolescents with autism spectrum disorder / Stephen K. SIECINSKI in Autism Research, 16-3 (March 2023)  

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Genetic background modulates phenotypes of serotonin transporter Ala56 knock-in mice / Travis KERR in Molecular Autism, (October 2013)  

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Genetic variation in serotonin transporter modulates tactile hyperresponsiveness in ASD / Kimberly B. SCHAUDER in Research in Autism Spectrum Disorders, 10 (February 2015)  

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Intestinal Predictors of Whole Blood Serotonin Levels in Children With or Without Autism / Miranda ZUNIGA-KENNEDY in Journal of Autism and Developmental Disorders, 52-9 (September 2022)  

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Is there sexual dimorphism of hyperserotonemia in autism spectrum disorder? / Lauren C. SHUFFREY in Autism Research, 10-8 (August 2017)  

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