Insistence on sameness and broader autism phenotype in simplex families with autism spectrum disorder / A. N. ESLER in Autism Research, 11-9 (September 2018)  

Public ISBD [article]  inAutism Research > 11-9 (September 2018) . - p.1253-1263 Titre : Insistence on sameness and broader autism phenotype in simplex families with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : A. N. ESLER, Auteur ; Sheri T. STRONACH, Auteur ; S. JACOB, Auteur Article en page(s) : p.1253-1263 Langues : Anglais (eng) Mots-clés : broader autism phenotype  insistence on sameness  subphenotypes Index. décimale : PER Périodiques Résumé : Insistence on sameness (IS) in individuals with autism spectrum disorder (ASD) and their families may have utility in identifying meaningful subgroups for studying the pathophysiological and genetic pathways affected in ASD. The primary objectives of the current study were to (1) characterize features of IS in parents of children with ASD and (2) examine their relationships with child IS symptoms. Participants were 2760 families who participated in the Simons Simplex Collection. Levels of parent IS were measured using the Broader Autism Phenotype Questionnaire (BAPQ). A factor analysis generated a BAPQ-IS scale, consisting of a subset of 11 items from the original BAPQ-Rigid scale. Correlations were run to examine the relationship between parent BAP and child IS variables. Correlations were found between parent IS and measures of child IS. Although relationships between parent and child IS features were statistically significant in this large sample, effect sizes were small. Results may be reflective of sample design that only included simplex families, where ASD severity may be predominantly driven by spontaneous mutations and less by common inherited risk from parents. In addition, child and parent measures used may have differentially captured features and severity of IS. Further research is needed on how IS can be accurately measured throughout development and across individuals with ASD and their unaffected family members to facilitate future studies on IS as a possible endophenotype for ASD. Autism Res 2018, 11: 1253-1263. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Previous research has suggested that insistence on sameness (IS) may be a heritable trait in autism spectrum disorder (ASD). The study examined whether children with high levels of IS had parents with IS tendencies. A small relationship was found between parent and child measures of IS. Future research is needed on measurement of insistence on sameness across individuals with and without ASD to further examine this relationship and improve understanding of the genetics of ASD. En ligne : http://dx.doi.org/10.1002/aur.1975 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=369 [article] Insistence on sameness and broader autism phenotype in simplex families with autism spectrum disorder [Texte imprimé et/ou numérique] / A. N. ESLER, Auteur ; Sheri T. STRONACH, Auteur ; S. JACOB, Auteur . - p.1253-1263. Langues : Anglais (eng) in Autism Research > 11-9 (September 2018) . - p.1253-1263 Mots-clés : broader autism phenotype  insistence on sameness  subphenotypes Index. décimale : PER Périodiques Résumé : Insistence on sameness (IS) in individuals with autism spectrum disorder (ASD) and their families may have utility in identifying meaningful subgroups for studying the pathophysiological and genetic pathways affected in ASD. The primary objectives of the current study were to (1) characterize features of IS in parents of children with ASD and (2) examine their relationships with child IS symptoms. Participants were 2760 families who participated in the Simons Simplex Collection. Levels of parent IS were measured using the Broader Autism Phenotype Questionnaire (BAPQ). A factor analysis generated a BAPQ-IS scale, consisting of a subset of 11 items from the original BAPQ-Rigid scale. Correlations were run to examine the relationship between parent BAP and child IS variables. Correlations were found between parent IS and measures of child IS. Although relationships between parent and child IS features were statistically significant in this large sample, effect sizes were small. Results may be reflective of sample design that only included simplex families, where ASD severity may be predominantly driven by spontaneous mutations and less by common inherited risk from parents. In addition, child and parent measures used may have differentially captured features and severity of IS. Further research is needed on how IS can be accurately measured throughout development and across individuals with ASD and their unaffected family members to facilitate future studies on IS as a possible endophenotype for ASD. Autism Res 2018, 11: 1253-1263. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Previous research has suggested that insistence on sameness (IS) may be a heritable trait in autism spectrum disorder (ASD). The study examined whether children with high levels of IS had parents with IS tendencies. A small relationship was found between parent and child measures of IS. Future research is needed on measurement of insistence on sameness across individuals with and without ASD to further examine this relationship and improve understanding of the genetics of ASD. En ligne : http://dx.doi.org/10.1002/aur.1975 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=369

Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism / R. CHEN in Molecular Autism, 8 (2017)  

Public ISBD [article]  inMolecular Autism > 8 (2017) . - 14p. Titre : Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism Type de document : Texte imprimé et/ou numérique Auteurs : R. CHEN, Auteur ; L. K. DAVIS, Auteur ; S. GUTER, Auteur ; Q. WEI, Auteur ; S. JACOB, Auteur ; M. H. POTTER, Auteur ; Nancy J. COX, Auteur ; Edwin H. Jr COOK, Auteur ; J. S. SUTCLIFFE, Auteur ; B. LI, Auteur Article en page(s) : 14p. Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/*genetics/metabolism  Endophenotypes/blood  Exome  Female  Forkhead Transcription Factors/*genetics  Genetic Predisposition to Disease  Humans  Jumonji Domain-Containing Histone Demethylases/*genetics  Male  *Mutation  Nuclear Proteins/*genetics  Repressor Proteins/*genetics  Sequence Analysis, DNA/methods  Serotonin/*blood  Signal Transduction  Ubiquitin-Specific Proteases/*genetics  *5-ht  *Autism  *Autism spectrum disorder  *Compound heterozygotes  *De novo mutation  *Endophenotype  *Group-wise transmission/disequilibrium test  *Hyperserotonemia  *Rare variants  *Serotonin  *Whole exome sequencing Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is one of the most highly heritable neuropsychiatric disorders, but underlying molecular mechanisms are still unresolved due to extreme locus heterogeneity. Leveraging meaningful endophenotypes or biomarkers may be an effective strategy to reduce heterogeneity to identify novel ASD genes. Numerous lines of evidence suggest a link between hyperserotonemia, i.e., elevated serotonin (5-hydroxytryptamine or 5-HT) in whole blood, and ASD. However, the genetic determinants of blood 5-HT level and their relationship to ASD are largely unknown. METHODS: In this study, pursuing the hypothesis that de novo variants (DNVs) and rare risk alleles acting in a recessive mode may play an important role in predisposition of hyperserotonemia in people with ASD, we carried out whole exome sequencing (WES) in 116 ASD parent-proband trios with most (107) probands having 5-HT measurements. RESULTS: Combined with published ASD DNVs, we identified USP15 as having recurrent de novo loss of function mutations and discovered evidence supporting two other known genes with recurrent DNVs (FOXP1 and KDM5B). Genes harboring functional DNVs significantly overlap with functional/disease gene sets known to be involved in ASD etiology, including FMRP targets and synaptic formation and transcriptional regulation genes. We grouped the probands into High-5HT and Normal-5HT groups based on normalized serotonin levels, and used network-based gene set enrichment analysis (NGSEA) to identify novel hyperserotonemia-related ASD genes based on LoF and missense DNVs. We found enrichment in the High-5HT group for a gene network module (DAWN-1) previously implicated in ASD, and this points to the TGF-beta pathway and cell junction processes. Through analysis of rare recessively acting variants (RAVs), we also found that rare compound heterozygotes (CHs) in the High-5HT group were enriched for loci in an ASD-associated gene set. Finally, we carried out rare variant group-wise transmission disequilibrium tests (gTDT) and observed significant association of rare variants in genes encoding a subset of the serotonin pathway with ASD. CONCLUSIONS: Our study identified USP15 as a novel gene implicated in ASD based on recurrent DNVs. It also demonstrates the potential value of 5-HT as an effective endophenotype for gene discovery in ASD, and the effectiveness of this strategy needs to be further explored in studies of larger sample sizes. En ligne : http://dx.doi.org/10.1186/s13229-017-0130-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329 [article] Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism [Texte imprimé et/ou numérique] / R. CHEN, Auteur ; L. K. DAVIS, Auteur ; S. GUTER, Auteur ; Q. WEI, Auteur ; S. JACOB, Auteur ; M. H. POTTER, Auteur ; Nancy J. COX, Auteur ; Edwin H. Jr COOK, Auteur ; J. S. SUTCLIFFE, Auteur ; B. LI, Auteur . - 14p. Langues : Anglais (eng) in Molecular Autism > 8 (2017) . - 14p. Mots-clés : Autism Spectrum Disorder/*genetics/metabolism  Endophenotypes/blood  Exome  Female  Forkhead Transcription Factors/*genetics  Genetic Predisposition to Disease  Humans  Jumonji Domain-Containing Histone Demethylases/*genetics  Male  *Mutation  Nuclear Proteins/*genetics  Repressor Proteins/*genetics  Sequence Analysis, DNA/methods  Serotonin/*blood  Signal Transduction  Ubiquitin-Specific Proteases/*genetics  *5-ht  *Autism  *Autism spectrum disorder  *Compound heterozygotes  *De novo mutation  *Endophenotype  *Group-wise transmission/disequilibrium test  *Hyperserotonemia  *Rare variants  *Serotonin  *Whole exome sequencing Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is one of the most highly heritable neuropsychiatric disorders, but underlying molecular mechanisms are still unresolved due to extreme locus heterogeneity. Leveraging meaningful endophenotypes or biomarkers may be an effective strategy to reduce heterogeneity to identify novel ASD genes. Numerous lines of evidence suggest a link between hyperserotonemia, i.e., elevated serotonin (5-hydroxytryptamine or 5-HT) in whole blood, and ASD. However, the genetic determinants of blood 5-HT level and their relationship to ASD are largely unknown. METHODS: In this study, pursuing the hypothesis that de novo variants (DNVs) and rare risk alleles acting in a recessive mode may play an important role in predisposition of hyperserotonemia in people with ASD, we carried out whole exome sequencing (WES) in 116 ASD parent-proband trios with most (107) probands having 5-HT measurements. RESULTS: Combined with published ASD DNVs, we identified USP15 as having recurrent de novo loss of function mutations and discovered evidence supporting two other known genes with recurrent DNVs (FOXP1 and KDM5B). Genes harboring functional DNVs significantly overlap with functional/disease gene sets known to be involved in ASD etiology, including FMRP targets and synaptic formation and transcriptional regulation genes. We grouped the probands into High-5HT and Normal-5HT groups based on normalized serotonin levels, and used network-based gene set enrichment analysis (NGSEA) to identify novel hyperserotonemia-related ASD genes based on LoF and missense DNVs. We found enrichment in the High-5HT group for a gene network module (DAWN-1) previously implicated in ASD, and this points to the TGF-beta pathway and cell junction processes. Through analysis of rare recessively acting variants (RAVs), we also found that rare compound heterozygotes (CHs) in the High-5HT group were enriched for loci in an ASD-associated gene set. Finally, we carried out rare variant group-wise transmission disequilibrium tests (gTDT) and observed significant association of rare variants in genes encoding a subset of the serotonin pathway with ASD. CONCLUSIONS: Our study identified USP15 as a novel gene implicated in ASD based on recurrent DNVs. It also demonstrates the potential value of 5-HT as an effective endophenotype for gene discovery in ASD, and the effectiveness of this strategy needs to be further explored in studies of larger sample sizes. En ligne : http://dx.doi.org/10.1186/s13229-017-0130-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329

Phenoscreening: a developmental approach to research domain criteria-motivated sampling / C. M. DOYLE in Journal of Child Psychology and Psychiatry, 62-7 (July 2021)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 62-7 (July 2021) . - p.884-894 Titre : Phenoscreening: a developmental approach to research domain criteria-motivated sampling Type de document : Texte imprimé et/ou numérique Auteurs : C. M. DOYLE, Auteur ; C. LASCH, Auteur ; E. P. VOLLMAN, Auteur ; Christopher David DESJARDINS, Auteur ; N. E. HELWIG, Auteur ; S. JACOB, Auteur ; J. J. WOLFF, Auteur ; J. T. ELISON, Auteur Article en page(s) : p.884-894 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis  Child, Preschool  Humans  Infant  Phenotype  Development  autism spectrum disorder  communication  infancy  social behavior Index. décimale : PER Périodiques Résumé : BACKGROUND: To advance early identification efforts, we must detect and characterize neurodevelopmental sequelae of risk among population-based samples early in development. However, variability across the typical-to-atypical continuum and heterogeneity within and across early emerging psychiatric/neurodevelopmental disorders represent fundamental challenges to overcome. Identifying multidimensionally determined profiles of risk, agnostic to DSM categories, via data-driven computational approaches represents an avenue to improve early identification of risk. METHODS: Factor mixture modeling (FMM) was used to identify subgroups and characterize phenotypic risk profiles, derived from multiple parent-report measures of typical and atypical behaviors common to autism spectrum disorder, in a community-based sample of 17- to 25-month-old toddlers (n = 1,570). To examine the utility of risk profile classification, a subsample of toddlers (n = 107) was assessed on a distal, independent outcome examining internalizing, externalizing, and dysregulation at approximately 30 months. RESULTS: FMM results identified five asymmetrically sized subgroups. The putative high- and moderate-risk groups comprised 6% of the sample. Follow-up analyses corroborated the utility of the risk profile classification; the high-, moderate-, and low-risk groups were differentially stratified (i.e., HR > moderate-risk > LR) on outcome measures and comparison of high- and low-risk groups revealed large effect sizes for internalizing (d = 0.83), externalizing (d = 1.39), and dysregulation (d = 1.19). CONCLUSIONS: This data-driven approach yielded five subgroups of toddlers, the utility of which was corroborated by later outcomes. Data-driven approaches, leveraging multiple developmentally appropriate dimensional RDoC constructs, hold promise for future efforts aimed toward early identification of at-risk-phenotypes for a variety of early emerging neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1111/jcpp.13341 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 [article] Phenoscreening: a developmental approach to research domain criteria-motivated sampling [Texte imprimé et/ou numérique] / C. M. DOYLE, Auteur ; C. LASCH, Auteur ; E. P. VOLLMAN, Auteur ; Christopher David DESJARDINS, Auteur ; N. E. HELWIG, Auteur ; S. JACOB, Auteur ; J. J. WOLFF, Auteur ; J. T. ELISON, Auteur . - p.884-894. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 62-7 (July 2021) . - p.884-894 Mots-clés : Autism Spectrum Disorder/diagnosis  Child, Preschool  Humans  Infant  Phenotype  Development  autism spectrum disorder  communication  infancy  social behavior Index. décimale : PER Périodiques Résumé : BACKGROUND: To advance early identification efforts, we must detect and characterize neurodevelopmental sequelae of risk among population-based samples early in development. However, variability across the typical-to-atypical continuum and heterogeneity within and across early emerging psychiatric/neurodevelopmental disorders represent fundamental challenges to overcome. Identifying multidimensionally determined profiles of risk, agnostic to DSM categories, via data-driven computational approaches represents an avenue to improve early identification of risk. METHODS: Factor mixture modeling (FMM) was used to identify subgroups and characterize phenotypic risk profiles, derived from multiple parent-report measures of typical and atypical behaviors common to autism spectrum disorder, in a community-based sample of 17- to 25-month-old toddlers (n = 1,570). To examine the utility of risk profile classification, a subsample of toddlers (n = 107) was assessed on a distal, independent outcome examining internalizing, externalizing, and dysregulation at approximately 30 months. RESULTS: FMM results identified five asymmetrically sized subgroups. The putative high- and moderate-risk groups comprised 6% of the sample. Follow-up analyses corroborated the utility of the risk profile classification; the high-, moderate-, and low-risk groups were differentially stratified (i.e., HR > moderate-risk > LR) on outcome measures and comparison of high- and low-risk groups revealed large effect sizes for internalizing (d = 0.83), externalizing (d = 1.39), and dysregulation (d = 1.19). CONCLUSIONS: This data-driven approach yielded five subgroups of toddlers, the utility of which was corroborated by later outcomes. Data-driven approaches, leveraging multiple developmentally appropriate dimensional RDoC constructs, hold promise for future efforts aimed toward early identification of at-risk-phenotypes for a variety of early emerging neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1111/jcpp.13341 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456

Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome / C. G. FLORES in Journal of Neurodevelopmental Disorders, 3-4 (December 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.316-24 Titre : Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome Type de document : Texte imprimé et/ou numérique Auteurs : C. G. FLORES, Auteur ; G. VALCANTE, Auteur ; S. GUTER, Auteur ; A. ZAYTOUN, Auteur ; E. WRAY, Auteur ; L. BELL, Auteur ; S. JACOB, Auteur ; M. H. LEWIS, Auteur ; D. J. DRISCOLL, Auteur ; Edwin H. Jr COOK, Auteur ; S. J. KIM, Auteur Article en page(s) : p.316-24 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Restricted and repetitive behavior (RRB) is a group of heterogeneous maladaptive behaviors. RRB is one of the key diagnostic features of autism spectrum disorders (ASDs) and also commonly observed in Prader-Willi syndrome (PWS). In this study, we assessed RRB using the Repetitive Behavior Scale-Revised (RBS-R) in two ASD samples (University of Illinois at Chicago [UIC] and University of Florida [UF]) and one PWS sample. We compared the RBS-R item endorsements across three ASD cohorts (UIC, UF and an ASD sample from Lam, The Repetitive Behavior Scale-Revised: independent validation and the effect of subject variables, PhD thesis, 2004), and a PWS sample. We also compared the mean RBS-R subscale/sum scores across the UIC, UF and PWS samples; across the combined ASD (UIC + UF), PWS-deletion and PWS-disomy groups; and across the combined ASD sample, PWS subgroup with a Social Communication Questionnaire (SCQ) score >/=15, and PWS subgroup with a SCQ score <15. Despite the highly heterogeneous nature, the three ASD samples (UIC, UF and Lam's) showed a similar pattern of the RBS-R endorsements, and the mean RBS-R scores were not different between the UIC and UF samples. However, higher RRB was noted in the ASD sample compared with the PWS sample, as well as in the PWS subgroup with a SCQ score >/=15 compared with the PWS subgroup with a SCQ score <15. Study limitations include a small sample size, a wide age range of our participants, and not controlling for potential covariates. A future replication study using a larger sample and further investigation into the genetic bases of overlapping ASD and RRB phenomenology are needed, given the higher RRB in the PWS subgroup with a SCQ score >/=15. En ligne : http://dx.doi.org/10.1007/s11689-011-9094-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome [Texte imprimé et/ou numérique] / C. G. FLORES, Auteur ; G. VALCANTE, Auteur ; S. GUTER, Auteur ; A. ZAYTOUN, Auteur ; E. WRAY, Auteur ; L. BELL, Auteur ; S. JACOB, Auteur ; M. H. LEWIS, Auteur ; D. J. DRISCOLL, Auteur ; Edwin H. Jr COOK, Auteur ; S. J. KIM, Auteur . - p.316-24. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.316-24 Index. décimale : PER Périodiques Résumé : Restricted and repetitive behavior (RRB) is a group of heterogeneous maladaptive behaviors. RRB is one of the key diagnostic features of autism spectrum disorders (ASDs) and also commonly observed in Prader-Willi syndrome (PWS). In this study, we assessed RRB using the Repetitive Behavior Scale-Revised (RBS-R) in two ASD samples (University of Illinois at Chicago [UIC] and University of Florida [UF]) and one PWS sample. We compared the RBS-R item endorsements across three ASD cohorts (UIC, UF and an ASD sample from Lam, The Repetitive Behavior Scale-Revised: independent validation and the effect of subject variables, PhD thesis, 2004), and a PWS sample. We also compared the mean RBS-R subscale/sum scores across the UIC, UF and PWS samples; across the combined ASD (UIC + UF), PWS-deletion and PWS-disomy groups; and across the combined ASD sample, PWS subgroup with a Social Communication Questionnaire (SCQ) score >/=15, and PWS subgroup with a SCQ score <15. Despite the highly heterogeneous nature, the three ASD samples (UIC, UF and Lam's) showed a similar pattern of the RBS-R endorsements, and the mean RBS-R scores were not different between the UIC and UF samples. However, higher RRB was noted in the ASD sample compared with the PWS sample, as well as in the PWS subgroup with a SCQ score >/=15 compared with the PWS subgroup with a SCQ score <15. Study limitations include a small sample size, a wide age range of our participants, and not controlling for potential covariates. A future replication study using a larger sample and further investigation into the genetic bases of overlapping ASD and RRB phenomenology are needed, given the higher RRB in the PWS subgroup with a SCQ score >/=15. En ligne : http://dx.doi.org/10.1007/s11689-011-9094-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

Whole Blood Serotonin Levels and Platelet 5-HT2A Binding in Autism Spectrum Disorder / E. AARON in Journal of Autism and Developmental Disorders, 49-6 (June 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-6 (June 2019) . - p.2417-2425 Titre : Whole Blood Serotonin Levels and Platelet 5-HT2A Binding in Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : E. AARON, Auteur ; A. MONTGOMERY, Auteur ; X. REN, Auteur ; S. GUTER, Auteur ; George M. ANDERSON, Auteur ; Ana M.D. CARNEIRO, Auteur ; S. JACOB, Auteur ; M. MOSCONI, Auteur ; G. N. PANDEY, Auteur ; E. COOK, Auteur ; J. VEENSTRA-VANDERWEELE, Auteur Article en page(s) : p.2417-2425 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Biomarker  Hyperserotonemia  Receptor  Serotonin Index. décimale : PER Périodiques Résumé : Elevated whole blood serotonin (WB5-HT) is a well-replicated biomarker in autism spectrum disorder (ASD). Decreased platelet serotonin receptor 5-HT2A binding has been reported in ASD. WB5-HT levels and platelet 5-HT2A specific binding were obtained from 110 individuals with ASD and 18 controls. Individuals with ASD had significantly higher WB5-HT levels than controls. There was no difference in the platelet 5-HT2A specific binding between groups. Multiple regression analyses revealed that platelet 5-HT2A binding significantly predicted WB5-HT in the control sample but not in the ASD sample. These results indicate that the relationship between WB5-HT and platelet 5-HT2A binding differs depending on ASD diagnosis, suggesting differences in platelet 5-HT system regulation in ASD. En ligne : https://dx.doi.org/10.1007/s10803-019-03989-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400 [article] Whole Blood Serotonin Levels and Platelet 5-HT2A Binding in Autism Spectrum Disorder [Texte imprimé et/ou numérique] / E. AARON, Auteur ; A. MONTGOMERY, Auteur ; X. REN, Auteur ; S. GUTER, Auteur ; George M. ANDERSON, Auteur ; Ana M.D. CARNEIRO, Auteur ; S. JACOB, Auteur ; M. MOSCONI, Auteur ; G. N. PANDEY, Auteur ; E. COOK, Auteur ; J. VEENSTRA-VANDERWEELE, Auteur . - p.2417-2425. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-6 (June 2019) . - p.2417-2425 Mots-clés : Autism spectrum disorder  Biomarker  Hyperserotonemia  Receptor  Serotonin Index. décimale : PER Périodiques Résumé : Elevated whole blood serotonin (WB5-HT) is a well-replicated biomarker in autism spectrum disorder (ASD). Decreased platelet serotonin receptor 5-HT2A binding has been reported in ASD. WB5-HT levels and platelet 5-HT2A specific binding were obtained from 110 individuals with ASD and 18 controls. Individuals with ASD had significantly higher WB5-HT levels than controls. There was no difference in the platelet 5-HT2A specific binding between groups. Multiple regression analyses revealed that platelet 5-HT2A binding significantly predicted WB5-HT in the control sample but not in the ASD sample. These results indicate that the relationship between WB5-HT and platelet 5-HT2A binding differs depending on ASD diagnosis, suggesting differences in platelet 5-HT system regulation in ASD. En ligne : https://dx.doi.org/10.1007/s10803-019-03989-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400

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