Autism spectrum and obsessive-compulsive disorders: OC behaviors, phenotypes and genetics / Suma JACOB in Autism Research, 2-6 (December 2009)  

Public ISBD [article]  inAutism Research > 2-6 (December 2009) . - p.293-311 Titre : Autism spectrum and obsessive-compulsive disorders: OC behaviors, phenotypes and genetics Type de document : texte imprimé Auteurs : Suma JACOB, Auteur ; James F. LECKMAN, Auteur ; Angeli LANDEROS-WEISENBERGER, Auteur Année de publication : 2009 Article en page(s) : p.293-311 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASDs) are a phenotypically and etiologically heterogeneous set of disorders that include obsessive-compulsive behaviors (OCB) that partially overlap with symptoms associated with obsessive-compulsive disorder (OCD). The OCB seen in ASD vary depending on the individual's mental and chronological age as well as the etiology of their ASD. Although progress has been made in the measurement of the OCB associated with ASD, more work is needed including the potential identification of heritable endophenotypes. Likewise, important progress toward the understanding of genetic influences in ASD has been made by greater refinement of relevant phenotypes using a broad range of study designs, including twin and family-genetic studies, parametric and nonparametric linkage analyses, as well as candidate gene studies and the study of rare genetic variants. These genetic analyses could lead to the refinement of the OCB phenotypes as larger samples are studied and specific associations are replicated. Like ASD, OCB are likely to prove to be multidimensional and polygenic. Some of the vulnerability genes may prove to be generalist genes influencing the phenotypic expression of both ASD and OCD while others will be specific to subcomponents of the ASD phenotype. In order to discover molecular and genetic mechanisms, collaborative approaches need to generate shared samples, resources, novel genomic technologies, as well as more refined phenotypes and innovative statistical approaches. There is a growing need to identify the range of molecular pathways involved in OCB related to ASD in order to develop novel treatment interventions. En ligne : http://dx.doi.org/10.1002/aur.108 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=968 [article] Autism spectrum and obsessive-compulsive disorders: OC behaviors, phenotypes and genetics [texte imprimé] / Suma JACOB, Auteur ; James F. LECKMAN, Auteur ; Angeli LANDEROS-WEISENBERGER, Auteur . - 2009 . - p.293-311. Langues : Anglais (eng) in Autism Research > 2-6 (December 2009) . - p.293-311 Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASDs) are a phenotypically and etiologically heterogeneous set of disorders that include obsessive-compulsive behaviors (OCB) that partially overlap with symptoms associated with obsessive-compulsive disorder (OCD). The OCB seen in ASD vary depending on the individual's mental and chronological age as well as the etiology of their ASD. Although progress has been made in the measurement of the OCB associated with ASD, more work is needed including the potential identification of heritable endophenotypes. Likewise, important progress toward the understanding of genetic influences in ASD has been made by greater refinement of relevant phenotypes using a broad range of study designs, including twin and family-genetic studies, parametric and nonparametric linkage analyses, as well as candidate gene studies and the study of rare genetic variants. These genetic analyses could lead to the refinement of the OCB phenotypes as larger samples are studied and specific associations are replicated. Like ASD, OCB are likely to prove to be multidimensional and polygenic. Some of the vulnerability genes may prove to be generalist genes influencing the phenotypic expression of both ASD and OCD while others will be specific to subcomponents of the ASD phenotype. In order to discover molecular and genetic mechanisms, collaborative approaches need to generate shared samples, resources, novel genomic technologies, as well as more refined phenotypes and innovative statistical approaches. There is a growing need to identify the range of molecular pathways involved in OCB related to ASD in order to develop novel treatment interventions. En ligne : http://dx.doi.org/10.1002/aur.108 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=968

A Deletion Involving CD38 and BST1 Results in a Fusion Transcript in a Patient With Autism and Asthma / Fabiola CERONI in Autism Research, 7-2 (April 2014)  

Public ISBD [article]  inAutism Research > 7-2 (April 2014) . - p.254-263 Titre : A Deletion Involving CD38 and BST1 Results in a Fusion Transcript in a Patient With Autism and Asthma Type de document : texte imprimé Auteurs : Fabiola CERONI, Auteur ; Angela SAGAR, Auteur ; Nuala H. SIMPSON, Auteur ; Alex J.T. GAWTHROPE, Auteur ; Dianne F. NEWBURY, Auteur ; Dalila PINTO, Auteur ; Sunday M. FRANCIS, Auteur ; Dorothy C. TESSMAN, Auteur ; Edwin H. Jr COOK, Auteur ; Anthony P. MONACO, Auteur ; Elena MAESTRINI, Auteur ; Alistair T. PAGNAMENTA, Auteur ; Suma JACOB, Auteur Article en page(s) : p.254-263 Mots-clés : autism  CD38  oxytocin  CNV  fusion transcript Index. décimale : PER Périodiques Résumé : CD38 encodes a ligand in the oxytocin signaling pathway. Some single nucleotide polymorphisms in this gene have been associated with low serum oxytocin levels in autism spectrum disorder (ASD) patients. Oxytocin disruption has been hypothesized to account for features of ASD, including impaired communication and social behavior, based on animal studies. Recent human studies have shown administration of oxytocin improving emotion recognition, promoting social behavior, and improving auditory processing of social stimuli in ASD patients. In addition to its role in oxytocin signaling, CD38 is involved in the regulation of calcium concentration in airway smooth muscle with impairment of CD38 being implicated in airway diseases like asthma. While a number of studies have implicated rare chromosomal deletions and duplications in helping determine genetic risk for autism, there are to our knowledge no reports describing rearrangements involving CD38 or deletions in patients with ASD. Here, we present two sisters diagnosed with autism and with features of regression—previously acquired speech lost in the second year of life. The younger sister, who also had asthma, inherited a maternal deletion of 4p15.32 that results in a BST1-CD38 fusion transcript. Their mother's deletion was mosaic and she was not affected. Although further work is required to assess functional consequences of the fusion transcript, we hypothesize that the proband's deletion may have served as a risk factor for autism that, when combined with other susceptibility variants, resulted in a more severe presentation than her sister. En ligne : http://dx.doi.org/10.1002/aur.1365 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230 [article] A Deletion Involving CD38 and BST1 Results in a Fusion Transcript in a Patient With Autism and Asthma [texte imprimé] / Fabiola CERONI, Auteur ; Angela SAGAR, Auteur ; Nuala H. SIMPSON, Auteur ; Alex J.T. GAWTHROPE, Auteur ; Dianne F. NEWBURY, Auteur ; Dalila PINTO, Auteur ; Sunday M. FRANCIS, Auteur ; Dorothy C. TESSMAN, Auteur ; Edwin H. Jr COOK, Auteur ; Anthony P. MONACO, Auteur ; Elena MAESTRINI, Auteur ; Alistair T. PAGNAMENTA, Auteur ; Suma JACOB, Auteur . - p.254-263. in Autism Research > 7-2 (April 2014) . - p.254-263 Mots-clés : autism  CD38  oxytocin  CNV  fusion transcript Index. décimale : PER Périodiques Résumé : CD38 encodes a ligand in the oxytocin signaling pathway. Some single nucleotide polymorphisms in this gene have been associated with low serum oxytocin levels in autism spectrum disorder (ASD) patients. Oxytocin disruption has been hypothesized to account for features of ASD, including impaired communication and social behavior, based on animal studies. Recent human studies have shown administration of oxytocin improving emotion recognition, promoting social behavior, and improving auditory processing of social stimuli in ASD patients. In addition to its role in oxytocin signaling, CD38 is involved in the regulation of calcium concentration in airway smooth muscle with impairment of CD38 being implicated in airway diseases like asthma. While a number of studies have implicated rare chromosomal deletions and duplications in helping determine genetic risk for autism, there are to our knowledge no reports describing rearrangements involving CD38 or deletions in patients with ASD. Here, we present two sisters diagnosed with autism and with features of regression—previously acquired speech lost in the second year of life. The younger sister, who also had asthma, inherited a maternal deletion of 4p15.32 that results in a BST1-CD38 fusion transcript. Their mother's deletion was mosaic and she was not affected. Although further work is required to assess functional consequences of the fusion transcript, we hypothesize that the proband's deletion may have served as a risk factor for autism that, when combined with other susceptibility variants, resulted in a more severe presentation than her sister. En ligne : http://dx.doi.org/10.1002/aur.1365 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230

Insistence on sameness and broader autism phenotype in simplex families with autism spectrum disorder / Amy 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 Auteurs : Amy N. ESLER, Auteur ; Sheri T. STRONACH, Auteur ; Suma 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] / Amy N. ESLER, Auteur ; Sheri T. STRONACH, Auteur ; Suma 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

Interface between Autism Spectrum Disorders and Obsessive-Compulsive Behaviors: A Genetic and Developmental Perspective / Suma JACOB

Public ISBD in Autism Spectrum Disorders / David G. AMARAL Titre : Interface between Autism Spectrum Disorders and Obsessive-Compulsive Behaviors: A Genetic and Developmental Perspective Type de document : texte imprimé Auteurs : Suma JACOB, Auteur ; Angeli LANDEROS-WEISENBERGER, Auteur ; James F. LECKMAN, Auteur Année de publication : 2011 Importance : p.285-303 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=139 in Autism Spectrum Disorders / David G. AMARAL Interface between Autism Spectrum Disorders and Obsessive-Compulsive Behaviors: A Genetic and Developmental Perspective [texte imprimé] / Suma JACOB, Auteur ; Angeli LANDEROS-WEISENBERGER, Auteur ; James F. LECKMAN, Auteur . - 2011 . - p.285-303. Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=139

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

Public ISBD [article]  inAutism Research > 10-8 (August 2017) . - p.1417-1423 Titre : Is there sexual dimorphism of hyperserotonemia in autism spectrum disorder? Type de document : texte imprimé Auteurs : Lauren C. SHUFFREY, Auteur ; Stephen GUTER, Auteur ; Shannon DELANEY, Auteur ; Suma JACOB, Auteur ; George M. ANDERSON, Auteur ; James S. SUTCLIFFE, Auteur ; Edwin H. Jr COOK, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur Article en page(s) : p.1417-1423 Langues : Anglais (eng) Mots-clés : serotonin  5-HT  autism spectrum disorder  hyperserotonemia Index. décimale : PER Périodiques Résumé : Approximately 30% of individuals with autism spectrum disorder (ASD) have elevated whole blood serotonin (5-HT) levels. Genetic linkage and association studies of ASD and of whole blood 5-HT levels as a quantitative trait have revealed sexual dimorphism. Few studies have examined the presence of a sex difference on hyperserotonemia within ASD. To assess whether the rate of hyperserotonemia is different in males than in females with ASD, we measured whole blood 5-HT levels in 292 children and adolescents with ASD, the largest sample in which this biomarker has been assessed. Based upon previous work suggesting that hyperserotonemia is more common prior to puberty, we focused our analysis on the 182 pre-pubertal children with ASD. 42% of pre-pubertal participants were within the hyperserotonemia range. In this population, we found that males were significantly more likely to manifest hyperserotonemia than females (P = 0.03). As expected, no significant difference was found in the post-pubertal population. Additional work will be needed to replicate this intriguing finding and to understand whether it could potentially explain differences in patterns of ASD risk between males and females. En ligne : http://dx.doi.org/10.1002/aur.1791 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=310 [article] Is there sexual dimorphism of hyperserotonemia in autism spectrum disorder? [texte imprimé] / Lauren C. SHUFFREY, Auteur ; Stephen GUTER, Auteur ; Shannon DELANEY, Auteur ; Suma JACOB, Auteur ; George M. ANDERSON, Auteur ; James S. SUTCLIFFE, Auteur ; Edwin H. Jr COOK, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur . - p.1417-1423. Langues : Anglais (eng) in Autism Research > 10-8 (August 2017) . - p.1417-1423 Mots-clés : serotonin  5-HT  autism spectrum disorder  hyperserotonemia Index. décimale : PER Périodiques Résumé : Approximately 30% of individuals with autism spectrum disorder (ASD) have elevated whole blood serotonin (5-HT) levels. Genetic linkage and association studies of ASD and of whole blood 5-HT levels as a quantitative trait have revealed sexual dimorphism. Few studies have examined the presence of a sex difference on hyperserotonemia within ASD. To assess whether the rate of hyperserotonemia is different in males than in females with ASD, we measured whole blood 5-HT levels in 292 children and adolescents with ASD, the largest sample in which this biomarker has been assessed. Based upon previous work suggesting that hyperserotonemia is more common prior to puberty, we focused our analysis on the 182 pre-pubertal children with ASD. 42% of pre-pubertal participants were within the hyperserotonemia range. In this population, we found that males were significantly more likely to manifest hyperserotonemia than females (P = 0.03). As expected, no significant difference was found in the post-pubertal population. Additional work will be needed to replicate this intriguing finding and to understand whether it could potentially explain differences in patterns of ASD risk between males and females. En ligne : http://dx.doi.org/10.1002/aur.1791 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=310

Large multicenter randomized trials in autism: key insights gained from the balovaptan clinical development program / Suma JACOB in Molecular Autism, 13 (2022)  

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

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Neuropeptide and steroid hormones / Suma JACOB

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Oxytocin and vasopressin: Mechanisms for potential sex differences observed in ASD / C. Sue CARTER

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Parental Broader Autism Subphenotypes in ASD Affected Families: Relationship to Gender, Child's Symptoms, SSRI Treatment, and Platelet Serotonin / Tal LEVIN-DECANINI in Autism Research, 6-6 (December 2013)  

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

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A quantitative association study of SLC25A12 and restricted repetitive behavior traits in autism spectrum disorders / Soo-Jeong KIM in Molecular Autism, (May 2011)  

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

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The journey to autism: Insights from neuroimaging studies of infants and toddlers / Jason J. WOLFF in Development and Psychopathology, 30-2 (May 2018)  

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

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