Association of Autism Spectrum Disorders and Inflammatory Bowel Disease / M. LEE in Journal of Autism and Developmental Disorders, 48-5 (May 2018)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 48-5 (May 2018) . - p.1523-1529 Titre : Association of Autism Spectrum Disorders and Inflammatory Bowel Disease Type de document : Texte imprimé et/ou numérique Auteurs : M. LEE, Auteur ; J. KRISHNAMURTHY, Auteur ; A. SUSI, Auteur ; C. SULLIVAN, Auteur ; G. H. GORMAN, Auteur ; E. HISLE-GORMAN, Auteur ; C. R. ERDIE-LALENA, Auteur ; C. M. NYLUND, Auteur Article en page(s) : p.1523-1529 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders (ASD)  Crohn's disease (CD)  Inflammatory bowel disease (IBD)  Ulcerative colitis (UC) Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) and inflammatory bowel disease (IBD) both have multifactorial pathogenesis with an increasing number of studies demonstrating gut-brain associations. We aim to examine the association between ASD and IBD using strict classification criteria for IBD. We conducted a retrospective case-cohort study using records from the Military Health System database with IBD defined as having one encounter with an ICD-9-CM diagnostic code for IBD and at least one outpatient prescription dispensed for a medication to treat IBD. Children with ASD were more likely to meet criteria for Crohn's disease (CD) and Ulcerative colitis (UC) compared to controls. This higher prevalence of CD and UC in children with ASD compared to controls confirms the association of ASD with IBD. En ligne : http://dx.doi.org/10.1007/s10803-017-3409-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=355 [article] Association of Autism Spectrum Disorders and Inflammatory Bowel Disease [Texte imprimé et/ou numérique] / M. LEE, Auteur ; J. KRISHNAMURTHY, Auteur ; A. SUSI, Auteur ; C. SULLIVAN, Auteur ; G. H. GORMAN, Auteur ; E. HISLE-GORMAN, Auteur ; C. R. ERDIE-LALENA, Auteur ; C. M. NYLUND, Auteur . - p.1523-1529. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 48-5 (May 2018) . - p.1523-1529 Mots-clés : Autism spectrum disorders (ASD)  Crohn's disease (CD)  Inflammatory bowel disease (IBD)  Ulcerative colitis (UC) Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) and inflammatory bowel disease (IBD) both have multifactorial pathogenesis with an increasing number of studies demonstrating gut-brain associations. We aim to examine the association between ASD and IBD using strict classification criteria for IBD. We conducted a retrospective case-cohort study using records from the Military Health System database with IBD defined as having one encounter with an ICD-9-CM diagnostic code for IBD and at least one outpatient prescription dispensed for a medication to treat IBD. Children with ASD were more likely to meet criteria for Crohn's disease (CD) and Ulcerative colitis (UC) compared to controls. This higher prevalence of CD and UC in children with ASD compared to controls confirms the association of ASD with IBD. En ligne : http://dx.doi.org/10.1007/s10803-017-3409-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=355

A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome / M. LEE in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.47 Titre : A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : M. LEE, Auteur ; G. E. MARTIN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; M. LOSH, Auteur Article en page(s) : p.47 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Endophenotype  FMR1 gene  Fragile X syndrome  Language  Longitudinal  Pragmatics  Social behavior Index. décimale : PER Périodiques Résumé : BACKGROUND: Targeting overlapping behavioral phenotypes in neurogenetic disorders can help elucidate gene-behavior relationships. Fragile X syndrome (FXS) and autism spectrum disorder (ASD) have been studied as a model for this approach, and important areas of phenotypic overlap and divergence have been documented. However, few studies have examined how the manifestation of ASD-related phenotypes in FXS may change over development, a question which has important implications for conceptualizing shared etiologies of these disorders and their constituent phenotypes. The goal of this study was to characterize ASD phenotypes in boys and girls with FXS across development, as well as to compare individual component phenotypes among boys with FXS and boys with idiopathic ASD (ASD-O) over time. METHODS: Sixty-five boys and girls with FXS and 19 boys with ASD-O completed a battery of diagnostic, cognitive, and language assessments at two time points (mean 2.5 years apart). Nonparametric tests assessed changes in diagnostic classification in FXS over time, and hierarchical linear modeling and repeated measures assessed changes in individual ASD symptoms in FXS over time. Additionally, ANCOVAs compared ASD symptom severity and component phenotypes in boys with FXS-O, FXS-ASD, and ASD-O at both time points. RESULTS: Overall, ASD symptom manifestation for children with FXS significantly increased over time, and developmental predictors varied based on the domain of symptoms assessed. The greatest degree of overlap was observed between boys with FXS-ASD and ASD-O in the domain of reciprocal social communication across time points, whereas boys with ASD-O demonstrated greater impairment in restricted and repetitive behaviors at the later time point. CONCLUSIONS: ASD symptoms increased in FXS with age, and social language impairment emerged as a potential core shared feature of FXS and ASD that may help elucidate underlying molecular genetic variation related to phenotypic variance, and aid intervention planning for subgroups of children showing distinct phenotypes. Results highlight the value of a developmental perspective, and longitudinal data in particular, in evaluating shared behavioral phenotypes across genetic conditions, lending insight into underlying cognitive, neural, and genetic mechanisms associated with key developmental phenotypes in ASD and FXS. En ligne : http://dx.doi.org/10.1186/s11689-016-9179-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349 [article] A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome [Texte imprimé et/ou numérique] / M. LEE, Auteur ; G. E. MARTIN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; M. LOSH, Auteur . - p.47. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.47 Mots-clés : Autism spectrum disorder  Endophenotype  FMR1 gene  Fragile X syndrome  Language  Longitudinal  Pragmatics  Social behavior Index. décimale : PER Périodiques Résumé : BACKGROUND: Targeting overlapping behavioral phenotypes in neurogenetic disorders can help elucidate gene-behavior relationships. Fragile X syndrome (FXS) and autism spectrum disorder (ASD) have been studied as a model for this approach, and important areas of phenotypic overlap and divergence have been documented. However, few studies have examined how the manifestation of ASD-related phenotypes in FXS may change over development, a question which has important implications for conceptualizing shared etiologies of these disorders and their constituent phenotypes. The goal of this study was to characterize ASD phenotypes in boys and girls with FXS across development, as well as to compare individual component phenotypes among boys with FXS and boys with idiopathic ASD (ASD-O) over time. METHODS: Sixty-five boys and girls with FXS and 19 boys with ASD-O completed a battery of diagnostic, cognitive, and language assessments at two time points (mean 2.5 years apart). Nonparametric tests assessed changes in diagnostic classification in FXS over time, and hierarchical linear modeling and repeated measures assessed changes in individual ASD symptoms in FXS over time. Additionally, ANCOVAs compared ASD symptom severity and component phenotypes in boys with FXS-O, FXS-ASD, and ASD-O at both time points. RESULTS: Overall, ASD symptom manifestation for children with FXS significantly increased over time, and developmental predictors varied based on the domain of symptoms assessed. The greatest degree of overlap was observed between boys with FXS-ASD and ASD-O in the domain of reciprocal social communication across time points, whereas boys with ASD-O demonstrated greater impairment in restricted and repetitive behaviors at the later time point. CONCLUSIONS: ASD symptoms increased in FXS with age, and social language impairment emerged as a potential core shared feature of FXS and ASD that may help elucidate underlying molecular genetic variation related to phenotypic variance, and aid intervention planning for subgroups of children showing distinct phenotypes. Results highlight the value of a developmental perspective, and longitudinal data in particular, in evaluating shared behavioral phenotypes across genetic conditions, lending insight into underlying cognitive, neural, and genetic mechanisms associated with key developmental phenotypes in ASD and FXS. En ligne : http://dx.doi.org/10.1186/s11689-016-9179-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349

Erratum to: A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome / M. LEE in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.10 Titre : Erratum to: A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : M. LEE, Auteur ; G. E. MARTIN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; M. LOSH, Auteur Article en page(s) : p.10 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : [This corrects the article DOI: 10.1186/s11689-016-9179-0.]. En ligne : http://dx.doi.org/10.1186/s11689-017-9192-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 [article] Erratum to: A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome [Texte imprimé et/ou numérique] / M. LEE, Auteur ; G. E. MARTIN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; M. LOSH, Auteur . - p.10. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.10 Index. décimale : PER Périodiques Résumé : [This corrects the article DOI: 10.1186/s11689-016-9179-0.]. En ligne : http://dx.doi.org/10.1186/s11689-017-9192-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350

Interaction of Blood Manganese Concentrations with GSTT1 in Relation to Autism Spectrum Disorder in Jamaican Children / M. H. RAHBAR in Journal of Autism and Developmental Disorders, 51-6 (June 2021)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 51-6 (June 2021) . - p.1953-1965 Titre : Interaction of Blood Manganese Concentrations with GSTT1 in Relation to Autism Spectrum Disorder in Jamaican Children Type de document : Texte imprimé et/ou numérique Auteurs : M. H. RAHBAR, Auteur ; Maureen SAMMS-VAUGHAN, Auteur ; Sepideh SAROUKHANI, Auteur ; M. LEE, Auteur ; J. ZHANG, Auteur ; Jan BRESSLER, Auteur ; M. HESSABI, Auteur ; S. SHAKESPEARE-PELLINGTON, Auteur ; M. L. GROVE, Auteur ; K. A. LOVELAND, Auteur Article en page(s) : p.1953-1965 Langues : Anglais (eng) Mots-clés : African Americans  Autism Spectrum Disorder/blood/genetics  Case-Control Studies  Child  Child, Preschool  Genetic Predisposition to Disease  Genotype  Glutathione S-Transferase pi  Glutathione Transferase/genetics  Humans  Male  Manganese/blood  Polymorphism, Genetic  Autism spectrum disorder (ASD)  Blood manganese concentrations (BMC)  Conditional logistic regression (CLR)  Glutathione S-transferase (GST) genes  Interaction  Jamaica  interest. Maureen Samms-Vaughan declares that she has no conflict of interest.  Sepideh Saroukhani declares that she has no conflict of interest. MinJae Lee  declares that she has no conflict of interest. Jing Zhang declares that she has no  conflict of interest. Jan Bressler declares that she has no conflict of interest.  Manouchehr Hessabi declares that he has no conflict of interest. Sydonnie  Shakespeare-Pellington declares that she has no conflict of interest. Megan L. Grove  declares that she has no conflict of interest. Katherine A. Loveland declares that  she has no conflict of interest. Index. décimale : PER Périodiques Résumé : Using data from 266 age- and sex-matched pairs of Jamaican children with autism spectrum disorder (ASD) and typically developing (TD) controls (2-8 years), we investigated whether glutathione S-transferase theta 1 (GSTT1) modifies the association between blood manganese concentrations (BMC) and ASD. After adjusting conditional logistic regression models for socioeconomic status and the interaction between GSTT1 and GSTP1 (glutathione S-transferase pi 1), using a recessive genetic model for GSTT1 and either a co-dominant or dominant model for GSTP1, the interaction between GSTT1 and BMC was significant (P?=?0.02, P?=?0.01, respectively). Compared to controls, ASD cases with GSTT1-DD genotype had 4.33 and 4.34 times higher odds of BMC?>?12 vs.???8.3 ?g/L, respectively. Replication in other populations is warranted. En ligne : http://dx.doi.org/10.1007/s10803-020-04677-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452 [article] Interaction of Blood Manganese Concentrations with GSTT1 in Relation to Autism Spectrum Disorder in Jamaican Children [Texte imprimé et/ou numérique] / M. H. RAHBAR, Auteur ; Maureen SAMMS-VAUGHAN, Auteur ; Sepideh SAROUKHANI, Auteur ; M. LEE, Auteur ; J. ZHANG, Auteur ; Jan BRESSLER, Auteur ; M. HESSABI, Auteur ; S. SHAKESPEARE-PELLINGTON, Auteur ; M. L. GROVE, Auteur ; K. A. LOVELAND, Auteur . - p.1953-1965. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 51-6 (June 2021) . - p.1953-1965 Mots-clés : African Americans  Autism Spectrum Disorder/blood/genetics  Case-Control Studies  Child  Child, Preschool  Genetic Predisposition to Disease  Genotype  Glutathione S-Transferase pi  Glutathione Transferase/genetics  Humans  Male  Manganese/blood  Polymorphism, Genetic  Autism spectrum disorder (ASD)  Blood manganese concentrations (BMC)  Conditional logistic regression (CLR)  Glutathione S-transferase (GST) genes  Interaction  Jamaica  interest. Maureen Samms-Vaughan declares that she has no conflict of interest.  Sepideh Saroukhani declares that she has no conflict of interest. MinJae Lee  declares that she has no conflict of interest. Jing Zhang declares that she has no  conflict of interest. Jan Bressler declares that she has no conflict of interest.  Manouchehr Hessabi declares that he has no conflict of interest. Sydonnie  Shakespeare-Pellington declares that she has no conflict of interest. Megan L. Grove  declares that she has no conflict of interest. Katherine A. Loveland declares that  she has no conflict of interest. Index. décimale : PER Périodiques Résumé : Using data from 266 age- and sex-matched pairs of Jamaican children with autism spectrum disorder (ASD) and typically developing (TD) controls (2-8 years), we investigated whether glutathione S-transferase theta 1 (GSTT1) modifies the association between blood manganese concentrations (BMC) and ASD. After adjusting conditional logistic regression models for socioeconomic status and the interaction between GSTT1 and GSTP1 (glutathione S-transferase pi 1), using a recessive genetic model for GSTT1 and either a co-dominant or dominant model for GSTP1, the interaction between GSTT1 and BMC was significant (P?=?0.02, P?=?0.01, respectively). Compared to controls, ASD cases with GSTT1-DD genotype had 4.33 and 4.34 times higher odds of BMC?>?12 vs.???8.3 ?g/L, respectively. Replication in other populations is warranted. En ligne : http://dx.doi.org/10.1007/s10803-020-04677-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452

Links between looking and speaking in autism and first-degree relatives: insights into the expression of genetic liability to autism / K. NAYAR in Molecular Autism, 9 (2018)  

Public ISBD [article]  inMolecular Autism > 9 (2018) . - 51p. Titre : Links between looking and speaking in autism and first-degree relatives: insights into the expression of genetic liability to autism Type de document : Texte imprimé et/ou numérique Auteurs : K. NAYAR, Auteur ; P. C. GORDON, Auteur ; G. E. MARTIN, Auteur ; A. L. HOGAN, Auteur ; C. LA VALLE, Auteur ; W. MCKINNEY, Auteur ; M. LEE, Auteur ; E. S. NORTON, Auteur ; M. LOSH, Auteur Article en page(s) : 51p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Broad autism phenotype  Endophenotype  Eye movement  Eye-voice span  Gaze  Language  Rapid automatized naming  Restricted and repetitive behaviors  Social communication  standards of the institutional research committee and with the 1964 Helsinki  Declaration and its later amendments or comparable ethical standards. Informed  consent was obtained from all individual participants included in the study.Not  applicableThe authors declare that they have no competing interests.Springer  Nature remains neutral with regard to jurisdictional claims in published maps and  institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: Rapid automatized naming (RAN; naming of familiar items presented in an array) is a task that taps fundamental neurocognitive processes that are affected in a number of complex psychiatric conditions. Deficits in RAN have been repeatedly observed in autism spectrum disorder (ASD), and also among first-degree relatives, suggesting that RAN may tap features that index genetic liability to ASD. This study used eye tracking to examine neurocognitive mechanisms related to RAN performance in ASD and first-degree relatives, and investigated links to broader language and clinical-behavioral features. Methods: Fifty-one individuals with ASD, biological parents of individuals with ASD (n = 133), and respective control groups (n = 45 ASD controls; 58 parent controls) completed RAN on an eye tracker. Variables included naming time, frequency of errors, and measures of eye movement during RAN (eye-voice span, number of fixations and refixations). Results: Both the ASD and parent-ASD groups showed slower naming times, more errors, and atypical eye-movement patterns (e.g., increased fixations and refixations), relative to controls, with differences persisting after accounting for spousal resemblance. RAN ability and associated eye movement patterns were correlated with increased social-communicative impairment and increased repetitive behaviors in ASD. Longer RAN times and greater refixations in the parent-ASD group were driven by the subgroup who showed clinical-behavioral features of the broad autism phenotype (BAP). Finally, parent-child dyad correlations revealed associations between naming time and refixations in parents with the BAP and increased repetitive behaviors in their child with ASD. Conclusions: Differences in RAN performance and associated eye movement patterns detected in ASD and in parents, and links to broader social-communicative abilities, clinical features, and parent-child associations, suggest that RAN-related abilities might constitute genetically meaningful neurocognitive markers that can help bridge connections between underlying biology and ASD symptomatology. En ligne : https://dx.doi.org/10.1186/s13229-018-0233-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371 [article] Links between looking and speaking in autism and first-degree relatives: insights into the expression of genetic liability to autism [Texte imprimé et/ou numérique] / K. NAYAR, Auteur ; P. C. GORDON, Auteur ; G. E. MARTIN, Auteur ; A. L. HOGAN, Auteur ; C. LA VALLE, Auteur ; W. MCKINNEY, Auteur ; M. LEE, Auteur ; E. S. NORTON, Auteur ; M. LOSH, Auteur . - 51p. Langues : Anglais (eng) in Molecular Autism > 9 (2018) . - 51p. Mots-clés : Autism spectrum disorder  Broad autism phenotype  Endophenotype  Eye movement  Eye-voice span  Gaze  Language  Rapid automatized naming  Restricted and repetitive behaviors  Social communication  standards of the institutional research committee and with the 1964 Helsinki  Declaration and its later amendments or comparable ethical standards. Informed  consent was obtained from all individual participants included in the study.Not  applicableThe authors declare that they have no competing interests.Springer  Nature remains neutral with regard to jurisdictional claims in published maps and  institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: Rapid automatized naming (RAN; naming of familiar items presented in an array) is a task that taps fundamental neurocognitive processes that are affected in a number of complex psychiatric conditions. Deficits in RAN have been repeatedly observed in autism spectrum disorder (ASD), and also among first-degree relatives, suggesting that RAN may tap features that index genetic liability to ASD. This study used eye tracking to examine neurocognitive mechanisms related to RAN performance in ASD and first-degree relatives, and investigated links to broader language and clinical-behavioral features. Methods: Fifty-one individuals with ASD, biological parents of individuals with ASD (n = 133), and respective control groups (n = 45 ASD controls; 58 parent controls) completed RAN on an eye tracker. Variables included naming time, frequency of errors, and measures of eye movement during RAN (eye-voice span, number of fixations and refixations). Results: Both the ASD and parent-ASD groups showed slower naming times, more errors, and atypical eye-movement patterns (e.g., increased fixations and refixations), relative to controls, with differences persisting after accounting for spousal resemblance. RAN ability and associated eye movement patterns were correlated with increased social-communicative impairment and increased repetitive behaviors in ASD. Longer RAN times and greater refixations in the parent-ASD group were driven by the subgroup who showed clinical-behavioral features of the broad autism phenotype (BAP). Finally, parent-child dyad correlations revealed associations between naming time and refixations in parents with the BAP and increased repetitive behaviors in their child with ASD. Conclusions: Differences in RAN performance and associated eye movement patterns detected in ASD and in parents, and links to broader social-communicative abilities, clinical features, and parent-child associations, suggest that RAN-related abilities might constitute genetically meaningful neurocognitive markers that can help bridge connections between underlying biology and ASD symptomatology. En ligne : https://dx.doi.org/10.1186/s13229-018-0233-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371

Maternal Exposures Associated with Autism Spectrum Disorder in Jamaican Children / M. A. CHRISTIAN in Journal of Autism and Developmental Disorders, 48-8 (August 2018)  

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What's the story? A computational analysis of narrative competence in autism / M. LEE in Autism, 22-3 (April 2018)  

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