Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder / Daniel B. CAMPBELL in Journal of Neurodevelopmental Disorders, 3-2 (June 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.101-12 Titre : Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Daniel B. CAMPBELL, Auteur ; D. DATTA, Auteur ; S. T. JONES, Auteur ; Evon BATEY LEE, Auteur ; J. S. SUTCLIFFE, Auteur ; E. A. HAMMOCK, Auteur ; P. LEVITT, Auteur Article en page(s) : p.101-12 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is characterized by core deficits in social behavior, communication, and behavioral flexibility. Several lines of evidence indicate that oxytocin, signaling through its receptor (OXTR), is important in a wide range of social behaviors. In attempts to determine whether genetic variations in the oxytocin signaling system contribute to ASD susceptibility, seven recent reports indicated association of common genetic polymorphisms in the OXTR gene with ASD. Each involved relatively small sample sizes (57 to 436 families) and, where it was examined, failed to identify association of OXTR polymorphisms with measures of social behavior in individuals with ASD. We report genetic association analysis of 25 markers spanning the OXTR locus in 1,238 pedigrees including 2,333 individuals with ASD. Association of three markers previously implicated in ASD susceptibility, rs2268493 (P = 0.043), rs1042778 (P = 0.037), and rs7632287 (P = 0.016), was observed. Further, these genetic markers were associated with multiple core ASD phenotypes, including social domain dysfunction, measured by standardized instruments used to diagnose and describe ASD. The data suggest association of OXTR genetic polymorphisms with ASD, although the results should be interpreted with caution because none of the significant associations would survive appropriate correction for multiple comparisons. However, the current findings of association in a large independent cohort are consistent with previous results, and the biological plausibility of participation of the oxytocin signaling system in modulating social disruptions characteristic of ASD, suggest that functional polymorphisms of OXTR may contribute to ASD risk in a subset of families. En ligne : http://dx.doi.org/10.1007/s11689-010-9071-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder [Texte imprimé et/ou numérique] / Daniel B. CAMPBELL, Auteur ; D. DATTA, Auteur ; S. T. JONES, Auteur ; Evon BATEY LEE, Auteur ; J. S. SUTCLIFFE, Auteur ; E. A. HAMMOCK, Auteur ; P. LEVITT, Auteur . - p.101-12. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.101-12 Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is characterized by core deficits in social behavior, communication, and behavioral flexibility. Several lines of evidence indicate that oxytocin, signaling through its receptor (OXTR), is important in a wide range of social behaviors. In attempts to determine whether genetic variations in the oxytocin signaling system contribute to ASD susceptibility, seven recent reports indicated association of common genetic polymorphisms in the OXTR gene with ASD. Each involved relatively small sample sizes (57 to 436 families) and, where it was examined, failed to identify association of OXTR polymorphisms with measures of social behavior in individuals with ASD. We report genetic association analysis of 25 markers spanning the OXTR locus in 1,238 pedigrees including 2,333 individuals with ASD. Association of three markers previously implicated in ASD susceptibility, rs2268493 (P = 0.043), rs1042778 (P = 0.037), and rs7632287 (P = 0.016), was observed. Further, these genetic markers were associated with multiple core ASD phenotypes, including social domain dysfunction, measured by standardized instruments used to diagnose and describe ASD. The data suggest association of OXTR genetic polymorphisms with ASD, although the results should be interpreted with caution because none of the significant associations would survive appropriate correction for multiple comparisons. However, the current findings of association in a large independent cohort are consistent with previous results, and the biological plausibility of participation of the oxytocin signaling system in modulating social disruptions characteristic of ASD, suggest that functional polymorphisms of OXTR may contribute to ASD risk in a subset of families. En ligne : http://dx.doi.org/10.1007/s11689-010-9071-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

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 : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=308 [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 : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=308

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)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 46-3 (March 2016) . - p.1124-1130 Titre : Brief Report: Whole Blood Serotonin Levels and Gastrointestinal Symptoms 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 ; Catherine HAGAN GILLESPIE, Auteur ; George M. ANDERSON, Auteur ; Kara Gross MARGOLIS, Auteur ; David Q. BEVERSDORF, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur Article en page(s) : p.1124-1130 Langues : Anglais (eng) Mots-clés : Serotonin  5-HT  Gastrointestinal (GI)  IL-6  Medical comorbidities  Autism Treatment Network Index. décimale : PER Périodiques Résumé : Elevated whole blood serotonin levels are observed in more than 25 % of children with autism spectrum disorder (ASD). Co-occurring gastrointestinal (GI) symptoms are also common in ASD but have not previously been examined in relationship with hyperserotonemia, despite the synthesis of serotonin in the gut. In 82 children and adolescents with ASD, we observed a correlation between a quantitative measure of lower GI symptoms and whole blood serotonin levels. No significant association was seen between functional constipation diagnosis and serotonin levels in the hyperserotonemia range, suggesting that this correlation is not driven by a single subgroup. More specific assessment of gut function, including the microbiome, will be necessary to evaluate the contribution of gut physiology to serotonin levels in ASD. En ligne : http://dx.doi.org/10.1007/s10803-015-2646-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=282 [article] Brief Report: Whole Blood Serotonin Levels and Gastrointestinal Symptoms 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 ; Catherine HAGAN GILLESPIE, Auteur ; George M. ANDERSON, Auteur ; Kara Gross MARGOLIS, Auteur ; David Q. BEVERSDORF, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur . - p.1124-1130. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 46-3 (March 2016) . - p.1124-1130 Mots-clés : Serotonin  5-HT  Gastrointestinal (GI)  IL-6  Medical comorbidities  Autism Treatment Network Index. décimale : PER Périodiques Résumé : Elevated whole blood serotonin levels are observed in more than 25 % of children with autism spectrum disorder (ASD). Co-occurring gastrointestinal (GI) symptoms are also common in ASD but have not previously been examined in relationship with hyperserotonemia, despite the synthesis of serotonin in the gut. In 82 children and adolescents with ASD, we observed a correlation between a quantitative measure of lower GI symptoms and whole blood serotonin levels. No significant association was seen between functional constipation diagnosis and serotonin levels in the hyperserotonemia range, suggesting that this correlation is not driven by a single subgroup. More specific assessment of gut function, including the microbiome, will be necessary to evaluate the contribution of gut physiology to serotonin levels in ASD. En ligne : http://dx.doi.org/10.1007/s10803-015-2646-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=282

Psychophysiological Associations with Gastrointestinal Symptomatology in Autism Spectrum Disorder / Bradley J. FERGUSON in Autism Research, 10-2 (February 2017)  

Public ISBD [article]  inAutism Research > 10-2 (February 2017) . - p.276-288 Titre : Psychophysiological Associations with Gastrointestinal Symptomatology in Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Bradley J. FERGUSON, Auteur ; Sarah MARLER, Auteur ; Lily L. ALTSTEIN, Auteur ; Evon BATEY LEE, Auteur ; Jill AKERS, Auteur ; Kristin SOHL, Auteur ; Aaron MCLAUGHLIN, Auteur ; Kaitlyn HARTNETT, Auteur ; Briana KILLE, Auteur ; Micah MAZUREK, Auteur ; Eric A. MACKLIN, Auteur ; Erin MCDONNELL, Auteur ; Mariah BARSTOW, Auteur ; Margaret L. BAUMAN, Auteur ; Kara Gross MARGOLIS, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; David Q. BEVERSDORF, Auteur Article en page(s) : p.276-288 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  gastrointestinal  autonomic nervous system  sympathetic  parasympathetic  anxiety  constipation Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is often accompanied by gastrointestinal disturbances, which also may impact behavior. Alterations in autonomic nervous system functioning are also frequently observed in ASD. The relationship between these findings in ASD is not known. We examined the relationship between gastrointestinal symptomatology, examining upper and lower gastrointestinal tract symptomatology separately, and autonomic nervous system functioning, as assessed by heart rate variability and skin conductance level, in a sample of 120 individuals with ASD. Relationships with co-occurring medical and psychiatric symptoms were also examined. While the number of participants with significant upper gastrointestinal tract problems was small in this sample, 42.5% of participants met criteria for functional constipation, a disorder of the lower gastrointestinal tract. Heart rate variability, a measure of parasympathetic modulation of cardiac activity, was found to be positively associated with lower gastrointestinal tract symptomatology at baseline. This relationship was particularly strong for participants with co-occurring diagnoses of anxiety disorder and for those with a history of regressive ASD or loss of previously acquired skills. These findings suggest that autonomic function and gastrointestinal problems are intertwined in children with ASD; although it is not possible to assess causality in this data set. Future work should examine the impact of treatment of gastrointestinal problems on autonomic function and anxiety, as well as the impact of anxiety treatment on gastrointestinal problems. Clinicians should be aware that gastrointestinal problems, anxiety, and autonomic dysfunction may cluster in children with ASD and should be addressed in a multidisciplinary treatment plan. En ligne : http://dx.doi.org/10.1002/aur.1646 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=303 [article] Psychophysiological Associations with Gastrointestinal Symptomatology in Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Bradley J. FERGUSON, Auteur ; Sarah MARLER, Auteur ; Lily L. ALTSTEIN, Auteur ; Evon BATEY LEE, Auteur ; Jill AKERS, Auteur ; Kristin SOHL, Auteur ; Aaron MCLAUGHLIN, Auteur ; Kaitlyn HARTNETT, Auteur ; Briana KILLE, Auteur ; Micah MAZUREK, Auteur ; Eric A. MACKLIN, Auteur ; Erin MCDONNELL, Auteur ; Mariah BARSTOW, Auteur ; Margaret L. BAUMAN, Auteur ; Kara Gross MARGOLIS, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; David Q. BEVERSDORF, Auteur . - p.276-288. Langues : Anglais (eng) in Autism Research > 10-2 (February 2017) . - p.276-288 Mots-clés : autism spectrum disorder  gastrointestinal  autonomic nervous system  sympathetic  parasympathetic  anxiety  constipation Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is often accompanied by gastrointestinal disturbances, which also may impact behavior. Alterations in autonomic nervous system functioning are also frequently observed in ASD. The relationship between these findings in ASD is not known. We examined the relationship between gastrointestinal symptomatology, examining upper and lower gastrointestinal tract symptomatology separately, and autonomic nervous system functioning, as assessed by heart rate variability and skin conductance level, in a sample of 120 individuals with ASD. Relationships with co-occurring medical and psychiatric symptoms were also examined. While the number of participants with significant upper gastrointestinal tract problems was small in this sample, 42.5% of participants met criteria for functional constipation, a disorder of the lower gastrointestinal tract. Heart rate variability, a measure of parasympathetic modulation of cardiac activity, was found to be positively associated with lower gastrointestinal tract symptomatology at baseline. This relationship was particularly strong for participants with co-occurring diagnoses of anxiety disorder and for those with a history of regressive ASD or loss of previously acquired skills. These findings suggest that autonomic function and gastrointestinal problems are intertwined in children with ASD; although it is not possible to assess causality in this data set. Future work should examine the impact of treatment of gastrointestinal problems on autonomic function and anxiety, as well as the impact of anxiety treatment on gastrointestinal problems. Clinicians should be aware that gastrointestinal problems, anxiety, and autonomic dysfunction may cluster in children with ASD and should be addressed in a multidisciplinary treatment plan. En ligne : http://dx.doi.org/10.1002/aur.1646 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=303

Rigid–Compulsive Behaviors are Associated with Mixed Bowel Symptoms in Autism Spectrum Disorder / Brittany PETERS in Journal of Autism and Developmental Disorders, 44-6 (June 2014)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 44-6 (June 2014) . - p.1425-1432 Titre : Rigid–Compulsive Behaviors are Associated with Mixed Bowel Symptoms in Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Brittany PETERS, Auteur ; Kent C. WILLIAMS, Auteur ; Phillip GORRINDO, Auteur ; Daniel ROSENBERG, Auteur ; Evon BATEY LEE, Auteur ; Pat LEVITT, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur Article en page(s) : p.1425-1432 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Repetitive behavior  Constipation  Encopresis Index. décimale : PER Périodiques Résumé : Based on clinical experience, we hypothesized that rigid–compulsive behaviors are associated with severe constipation and co-occurring diarrhea or underwear staining in children with autism spectrum disorder. Using data from the Autism Treatment Network, we evaluated the association between these gastrointestinal symptoms and measures of rigid compulsive behavior in children ages 2–17. Following statistical correction, four of five primary measures were significantly associated with constipation and diarrhea or underwear staining, including parental report of repetitive behavior, parental report of compulsive behavior, clinician diagnosis of obsessive–compulsive disorder, and report of rituals observed on the autism diagnostic observation schedule. This association could point to a causal connection between these symptoms or to a common biological pathway that impacts both gut and brain. En ligne : http://dx.doi.org/10.1007/s10803-013-2009-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=233 [article] Rigid–Compulsive Behaviors are Associated with Mixed Bowel Symptoms in Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Brittany PETERS, Auteur ; Kent C. WILLIAMS, Auteur ; Phillip GORRINDO, Auteur ; Daniel ROSENBERG, Auteur ; Evon BATEY LEE, Auteur ; Pat LEVITT, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur . - p.1425-1432. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 44-6 (June 2014) . - p.1425-1432 Mots-clés : Autism spectrum disorder  Repetitive behavior  Constipation  Encopresis Index. décimale : PER Périodiques Résumé : Based on clinical experience, we hypothesized that rigid–compulsive behaviors are associated with severe constipation and co-occurring diarrhea or underwear staining in children with autism spectrum disorder. Using data from the Autism Treatment Network, we evaluated the association between these gastrointestinal symptoms and measures of rigid compulsive behavior in children ages 2–17. Following statistical correction, four of five primary measures were significantly associated with constipation and diarrhea or underwear staining, including parental report of repetitive behavior, parental report of compulsive behavior, clinician diagnosis of obsessive–compulsive disorder, and report of rituals observed on the autism diagnostic observation schedule. This association could point to a causal connection between these symptoms or to a common biological pathway that impacts both gut and brain. En ligne : http://dx.doi.org/10.1007/s10803-013-2009-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=233

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