Dynamic changes in amygdala activation and functional connectivity in children and adolescents with anxiety disorders / Johnna R. SWARTZ in Development and Psychopathology, 26-4 (Part 2) (November 2014)  

Public ISBD [article]  inDevelopment and Psychopathology > 26-4 (Part 2) (November 2014) . - p.1305-1319 Titre : Dynamic changes in amygdala activation and functional connectivity in children and adolescents with anxiety disorders Type de document : texte imprimé Auteurs : Johnna R. SWARTZ, Auteur ; K. Luan PHAN, Auteur ; Mike ANGSTADT, Auteur ; Kate D. FITZGERALD, Auteur ; Christopher S. MONK, Auteur Année de publication : 2014 Article en page(s) : p.1305-1319 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Anxiety disorders are associated with abnormalities in amygdala function and prefrontal cortex–amygdala connectivity. The majority of functional magnetic resonance imaging studies have examined mean group differences in amygdala activation or connectivity in children and adolescents with anxiety disorders relative to controls, but emerging evidence suggests that abnormalities in amygdala function are dependent on the timing of the task and may vary across the course of a scanning session. The goal of the present study was to extend our knowledge of the dynamics of amygdala dysfunction by examining whether changes in amygdala activation and connectivity over scanning differ in pediatric anxiety disorder patients relative to typically developing controls during an emotion processing task. Examining changes in activation over time allows for a comparison of how brain function differs during initial exposure to novel stimuli versus more prolonged exposure. Participants included 34 anxiety disorder patients and 19 controls 7 to 19 years old. Participants performed an emotional face-matching task during functional magnetic resonance imaging scanning, and the task was divided into thirds in order to examine change in activation over time. Results demonstrated that patients exhibited an abnormal pattern of amygdala activation characterized by an initially heightened amygdala response relative to controls at the beginning of scanning, followed by significant decreases in activation over time. In addition, controls evidenced greater context-modulated prefrontal cortex–amygdala connectivity during the beginning of scanning relative to patients. These results indicate that differences in emotion processing between the groups vary from initial exposure to novel stimuli relative to more prolonged exposure. Implications are discussed regarding how this pattern of neural activation may relate to altered early-occurring or anticipatory emotion-regulation strategies and maladaptive later-occurring strategies in children and adolescents with anxiety disorders. En ligne : http://dx.doi.org/10.1017/S0954579414001047 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=245 [article] Dynamic changes in amygdala activation and functional connectivity in children and adolescents with anxiety disorders [texte imprimé] / Johnna R. SWARTZ, Auteur ; K. Luan PHAN, Auteur ; Mike ANGSTADT, Auteur ; Kate D. FITZGERALD, Auteur ; Christopher S. MONK, Auteur . - 2014 . - p.1305-1319. Langues : Anglais (eng) in Development and Psychopathology > 26-4 (Part 2) (November 2014) . - p.1305-1319 Index. décimale : PER Périodiques Résumé : Anxiety disorders are associated with abnormalities in amygdala function and prefrontal cortex–amygdala connectivity. The majority of functional magnetic resonance imaging studies have examined mean group differences in amygdala activation or connectivity in children and adolescents with anxiety disorders relative to controls, but emerging evidence suggests that abnormalities in amygdala function are dependent on the timing of the task and may vary across the course of a scanning session. The goal of the present study was to extend our knowledge of the dynamics of amygdala dysfunction by examining whether changes in amygdala activation and connectivity over scanning differ in pediatric anxiety disorder patients relative to typically developing controls during an emotion processing task. Examining changes in activation over time allows for a comparison of how brain function differs during initial exposure to novel stimuli versus more prolonged exposure. Participants included 34 anxiety disorder patients and 19 controls 7 to 19 years old. Participants performed an emotional face-matching task during functional magnetic resonance imaging scanning, and the task was divided into thirds in order to examine change in activation over time. Results demonstrated that patients exhibited an abnormal pattern of amygdala activation characterized by an initially heightened amygdala response relative to controls at the beginning of scanning, followed by significant decreases in activation over time. In addition, controls evidenced greater context-modulated prefrontal cortex–amygdala connectivity during the beginning of scanning relative to patients. These results indicate that differences in emotion processing between the groups vary from initial exposure to novel stimuli relative to more prolonged exposure. Implications are discussed regarding how this pattern of neural activation may relate to altered early-occurring or anticipatory emotion-regulation strategies and maladaptive later-occurring strategies in children and adolescents with anxiety disorders. En ligne : http://dx.doi.org/10.1017/S0954579414001047 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=245

Neural correlates of explicit and implicit emotion processing in relation to treatment response in pediatric anxiety / Katie L. BURKHOUSE in Journal of Child Psychology and Psychiatry, 58-5 (May 2017)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 58-5 (May 2017) . - p.546-554 Titre : Neural correlates of explicit and implicit emotion processing in relation to treatment response in pediatric anxiety Type de document : texte imprimé Auteurs : Katie L. BURKHOUSE, Auteur ; Autumn KUJAWA, Auteur ; Heide KLUMPP, Auteur ; Kate D. FITZGERALD, Auteur ; Christopher S. MONK, Auteur ; K. Luan PHAN, Auteur Article en page(s) : p.546-554 Langues : Anglais (eng) Mots-clés : Pediatric anxiety  treatment response  neuroimaging  attention  emotion processing Index. décimale : PER Périodiques Résumé : Background Approximately 40%–45% of youth with anxiety disorders do not achieve remission (or a substantial reduction in symptoms) following treatment, highlighting the need to identify predictors of treatment response. Given the well-established link between attentional biases and anxiety disorders in youth and adults, this study examined the neural correlates of directing attention toward and away from emotional faces in relation to pediatric anxiety treatment response. Method Prior to beginning treatment with the selective serotonin reuptake inhibitor (SSRI) sertraline or cognitive behavior therapy (CBT), 37 youth (age 7–19 years) with generalized and/or social anxiety disorder completed a task with conditions that manipulated whether participants were instructed to match emotional faces (explicit emotion processing) or match shapes in the context of emotional face distractors (implicit emotion processing) during functional magnetic resonance imaging. Results Results revealed that reduced activation in superior frontal gyrus (SFG), encompassing the dorsal anterior cingulate cortex (ACC) and dorsomedial prefrontal cortex (PFC), during implicit processing of emotional faces predicted a greater reduction in anxiety severity pre-to-post treatment. Post hoc analyses indicated that effects were not significantly moderated by the type of treatment or anxiety type. Conclusions Findings suggest that less recruitment of SFG, including the dorsal ACC and dorsomedial PFC, during implicit emotion processing predicts a greater reduction in youth anxiety symptoms pre-to-post treatment. Youth who exhibit reduced activation in these areas while matching shapes in the context of emotional face distractors may have more to gain from CBT and SSRI treatment due to preexisting deficits in attentional control. These findings suggest that neuroimaging may be a useful tool for predicting which youth are most likely to benefit from anxiety treatment. En ligne : http://dx.doi.org/10.1111/jcpp.12658 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=306 [article] Neural correlates of explicit and implicit emotion processing in relation to treatment response in pediatric anxiety [texte imprimé] / Katie L. BURKHOUSE, Auteur ; Autumn KUJAWA, Auteur ; Heide KLUMPP, Auteur ; Kate D. FITZGERALD, Auteur ; Christopher S. MONK, Auteur ; K. Luan PHAN, Auteur . - p.546-554. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 58-5 (May 2017) . - p.546-554 Mots-clés : Pediatric anxiety  treatment response  neuroimaging  attention  emotion processing Index. décimale : PER Périodiques Résumé : Background Approximately 40%–45% of youth with anxiety disorders do not achieve remission (or a substantial reduction in symptoms) following treatment, highlighting the need to identify predictors of treatment response. Given the well-established link between attentional biases and anxiety disorders in youth and adults, this study examined the neural correlates of directing attention toward and away from emotional faces in relation to pediatric anxiety treatment response. Method Prior to beginning treatment with the selective serotonin reuptake inhibitor (SSRI) sertraline or cognitive behavior therapy (CBT), 37 youth (age 7–19 years) with generalized and/or social anxiety disorder completed a task with conditions that manipulated whether participants were instructed to match emotional faces (explicit emotion processing) or match shapes in the context of emotional face distractors (implicit emotion processing) during functional magnetic resonance imaging. Results Results revealed that reduced activation in superior frontal gyrus (SFG), encompassing the dorsal anterior cingulate cortex (ACC) and dorsomedial prefrontal cortex (PFC), during implicit processing of emotional faces predicted a greater reduction in anxiety severity pre-to-post treatment. Post hoc analyses indicated that effects were not significantly moderated by the type of treatment or anxiety type. Conclusions Findings suggest that less recruitment of SFG, including the dorsal ACC and dorsomedial PFC, during implicit emotion processing predicts a greater reduction in youth anxiety symptoms pre-to-post treatment. Youth who exhibit reduced activation in these areas while matching shapes in the context of emotional face distractors may have more to gain from CBT and SSRI treatment due to preexisting deficits in attentional control. These findings suggest that neuroimaging may be a useful tool for predicting which youth are most likely to benefit from anxiety treatment. En ligne : http://dx.doi.org/10.1111/jcpp.12658 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=306

Obsessive-compulsive disorder and attention-deficit/hyperactivity disorder: distinct associations with DNA methylation and genetic variation / Sarah J. GOODMAN in Journal of Neurodevelopmental Disorders, 12 (2020)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 12 (2020) Titre : Obsessive-compulsive disorder and attention-deficit/hyperactivity disorder: distinct associations with DNA methylation and genetic variation Type de document : texte imprimé Auteurs : Sarah J. GOODMAN, Auteur ; Christie L. BURTON, Auteur ; Darci T. BUTCHER, Auteur ; Michelle T. SIU, Auteur ; Mathieu LEMIRE, Auteur ; Eric CHATER-DIEHL, Auteur ; Andrei L. TURINSKY, Auteur ; Michael BRUDNO, Auteur ; Noam SORENI, Auteur ; David ROSENBERG, Auteur ; Kate D. FITZGERALD, Auteur ; Gregory L. HANNA, Auteur ; Evdokia ANAGNOSTOU, Auteur ; Paul D. ARNOLD, Auteur ; Jennifer CROSBIE, Auteur ; Russell SCHACHAR, Auteur ; Rosanna WEKSBERG, Auteur Langues : Anglais (eng) Mots-clés : Attention Deficit Disorder with Hyperactivity/genetics  DNA Methylation/genetics  Genetic Variation/genetics  Humans  Obsessive-Compulsive Disorder/genetics  Adhd  Biomarker  DNA methylation  Epigenetics  Ocd Index. décimale : PER Périodiques Résumé : BACKGROUND: A growing body of research has demonstrated associations between specific neurodevelopmental disorders and variation in DNA methylation (DNAm), implicating this molecular mark as a possible contributor to the molecular etiology of these disorders and/or as a novel disease biomarker. Furthermore, genetic risk variants of neurodevelopmental disorders have been found to be enriched at loci associated with DNAm patterns, referred to as methylation quantitative trait loci (mQTLs). METHODS: We conducted two epigenome-wide association studies in individuals with attention-deficit/hyperactivity disorder (ADHD) or obsessive-compulsive disorder (OCD) (aged 4-18 years) using DNA extracted from saliva. DNAm data generated on the Illumina Human Methylation 450 K array were used to examine the interaction between genetic variation and DNAm patterns associated with these disorders. RESULTS: Using linear regression followed by principal component analysis, individuals with the most endorsed symptoms of ADHD or OCD were found to have significantly more distinct DNAm patterns from controls, as compared to all cases. This suggested that the phenotypic heterogeneity of these disorders is reflected in altered DNAm at specific sites. Further investigations of the DNAm sites associated with each disorder revealed that despite little overlap of these DNAm sites across the two disorders, both disorders were significantly enriched for mQTLs within our sample. CONCLUSIONS: Our DNAm data provide insights into the regulatory changes associated with genetic variation, highlighting their potential utility both in directing GWAS and in elucidating the pathophysiology of neurodevelopmental disorders. En ligne : https://dx.doi.org/10.1186/s11689-020-09324-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Obsessive-compulsive disorder and attention-deficit/hyperactivity disorder: distinct associations with DNA methylation and genetic variation [texte imprimé] / Sarah J. GOODMAN, Auteur ; Christie L. BURTON, Auteur ; Darci T. BUTCHER, Auteur ; Michelle T. SIU, Auteur ; Mathieu LEMIRE, Auteur ; Eric CHATER-DIEHL, Auteur ; Andrei L. TURINSKY, Auteur ; Michael BRUDNO, Auteur ; Noam SORENI, Auteur ; David ROSENBERG, Auteur ; Kate D. FITZGERALD, Auteur ; Gregory L. HANNA, Auteur ; Evdokia ANAGNOSTOU, Auteur ; Paul D. ARNOLD, Auteur ; Jennifer CROSBIE, Auteur ; Russell SCHACHAR, Auteur ; Rosanna WEKSBERG, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 12 (2020) Mots-clés : Attention Deficit Disorder with Hyperactivity/genetics  DNA Methylation/genetics  Genetic Variation/genetics  Humans  Obsessive-Compulsive Disorder/genetics  Adhd  Biomarker  DNA methylation  Epigenetics  Ocd Index. décimale : PER Périodiques Résumé : BACKGROUND: A growing body of research has demonstrated associations between specific neurodevelopmental disorders and variation in DNA methylation (DNAm), implicating this molecular mark as a possible contributor to the molecular etiology of these disorders and/or as a novel disease biomarker. Furthermore, genetic risk variants of neurodevelopmental disorders have been found to be enriched at loci associated with DNAm patterns, referred to as methylation quantitative trait loci (mQTLs). METHODS: We conducted two epigenome-wide association studies in individuals with attention-deficit/hyperactivity disorder (ADHD) or obsessive-compulsive disorder (OCD) (aged 4-18 years) using DNA extracted from saliva. DNAm data generated on the Illumina Human Methylation 450 K array were used to examine the interaction between genetic variation and DNAm patterns associated with these disorders. RESULTS: Using linear regression followed by principal component analysis, individuals with the most endorsed symptoms of ADHD or OCD were found to have significantly more distinct DNAm patterns from controls, as compared to all cases. This suggested that the phenotypic heterogeneity of these disorders is reflected in altered DNAm at specific sites. Further investigations of the DNAm sites associated with each disorder revealed that despite little overlap of these DNAm sites across the two disorders, both disorders were significantly enriched for mQTLs within our sample. CONCLUSIONS: Our DNAm data provide insights into the regulatory changes associated with genetic variation, highlighting their potential utility both in directing GWAS and in elucidating the pathophysiology of neurodevelopmental disorders. En ligne : https://dx.doi.org/10.1186/s11689-020-09324-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

Pilot study of response inhibition and error processing in the posterior medial prefrontal cortex in healthy youth / Kate D. FITZGERALD in Journal of Child Psychology and Psychiatry, 49-9 (September 2008)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 49-9 (September 2008) . - p.986-994 Titre : Pilot study of response inhibition and error processing in the posterior medial prefrontal cortex in healthy youth Type de document : texte imprimé Auteurs : Kate D. FITZGERALD, Auteur ; Christopher D. ZBROZEK, Auteur ; Robert C. WELSH, Auteur ; Jennifer C. BRITTON, Auteur ; Israel LIBERZON, Auteur ; Stephan F. TAYLOR, Auteur Année de publication : 2008 Article en page(s) : p.986-994 Langues : Anglais (eng) Mots-clés : Antisaccade response-inhibition error-processing anterior-cingulate developmental-neuroimaging Index. décimale : PER Périodiques Résumé : Background: Recent neuroimaging work suggests that inhibitory and error processing in healthy adults share overlapping, but functionally distinct neural circuitries within the posterior medial frontal cortex (pMFC); however, it remains unknown whether the pMFC is differentially engaged by response inhibition compared to error commission in the developing brain. Developmental neuroimaging studies of response inhibition have found pMFC activation, but the possible contribution of error-related activation during inhibitory processing has not been well studied in youth. Method: To examine the processing of correct response inhibition compared to errors in the developing brain, we performed functional magnetic resonance imaging scans in 11 healthy subjects, ages 8–14 years, during an antisaccade task while performance was monitored. Results: Successful antisaccades activated the pre-supplementary motor area. In contrast, errors on the antisaccade task activated the dorsal anterior cingulate cortex. Conclusion: The findings suggest the functional sub-specialization of inhibitory and error processing within the pMFC in this pilot sample of children and adolescents. Future neuroimaging studies of developing inhibitory control should examine both between correct and error trials. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2008.01906.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558 [article] Pilot study of response inhibition and error processing in the posterior medial prefrontal cortex in healthy youth [texte imprimé] / Kate D. FITZGERALD, Auteur ; Christopher D. ZBROZEK, Auteur ; Robert C. WELSH, Auteur ; Jennifer C. BRITTON, Auteur ; Israel LIBERZON, Auteur ; Stephan F. TAYLOR, Auteur . - 2008 . - p.986-994. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 49-9 (September 2008) . - p.986-994 Mots-clés : Antisaccade response-inhibition error-processing anterior-cingulate developmental-neuroimaging Index. décimale : PER Périodiques Résumé : Background: Recent neuroimaging work suggests that inhibitory and error processing in healthy adults share overlapping, but functionally distinct neural circuitries within the posterior medial frontal cortex (pMFC); however, it remains unknown whether the pMFC is differentially engaged by response inhibition compared to error commission in the developing brain. Developmental neuroimaging studies of response inhibition have found pMFC activation, but the possible contribution of error-related activation during inhibitory processing has not been well studied in youth. Method: To examine the processing of correct response inhibition compared to errors in the developing brain, we performed functional magnetic resonance imaging scans in 11 healthy subjects, ages 8–14 years, during an antisaccade task while performance was monitored. Results: Successful antisaccades activated the pre-supplementary motor area. In contrast, errors on the antisaccade task activated the dorsal anterior cingulate cortex. Conclusion: The findings suggest the functional sub-specialization of inhibitory and error processing within the pMFC in this pilot sample of children and adolescents. Future neuroimaging studies of developing inhibitory control should examine both between correct and error trials. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2008.01906.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558

Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation / MatthewJ GAZZELLONE in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.36 Titre : Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation Type de document : texte imprimé Auteurs : MatthewJ GAZZELLONE, Auteur ; Mehdi ZARREI, Auteur ; Christie L. BURTON, Auteur ; Susan WALKER, Auteur ; Mohammed UDDIN, Auteur ; S.M. SHAHEEN, Auteur ; Julie COSTE, Auteur ; Rageen RAJENDRAM, Auteur ; Reva J. SCHACHTER, Auteur ; Marlena COLASANTO, Auteur ; Gregory L. HANNA, Auteur ; David R. ROSENBERG, Auteur ; Noam SORENI, Auteur ; Kate D. FITZGERALD, Auteur ; Christian R. MARSHALL, Auteur ; Janet A. BUCHANAN, Auteur ; Daniele MERICO, Auteur ; Paul D. ARNOLD, Auteur ; Stephen SCHERER, Auteur Article en page(s) : p.36 Langues : Anglais (eng) Mots-clés : Copy number variation  Obsessive-compulsive disorder  Pediatrics  Whole-exome sequencing Index. décimale : PER Périodiques Résumé : BACKGROUND: Obsessive-compulsive disorder (OCD) is a heterogeneous neuropsychiatric condition, thought to have a significant genetic component. When onset occurs in childhood, affected individuals generally exhibit different characteristics from adult-onset OCD, including higher prevalence in males and increased heritability. Since neuropsychiatric conditions are associated with copy number variations (CNVs), we considered their potential role in the etiology of OCD. METHODS: We genotyped 307 unrelated pediatric probands with idiopathic OCD (including 174 that were part of complete parent-child trios) and compared their genotypes with those of 3861 population controls, to identify rare CNVs (<0.5 % frequency) of at least 15 kb in size that might contribute to OCD. RESULTS: We uncovered de novo CNVs in 4/174 probands (2.3 %). Our case cohort was enriched for CNVs in genes that encode targets of the fragile X mental retardation protein (nominal p = 1.85 x 10(-03); FDR=0.09), similar to previous findings in autism and schizophrenia. These results also identified deletions or duplications of exons in genes involved in neuronal migration (ASTN2), synapse formation (NLGN1 and PTPRD), and postsynaptic scaffolding (DLGAP1 and DLGAP2), which may be relevant to the pathogenesis of OCD. Four cases had CNVs involving known genomic disorder loci (1q21.1-21.2, 15q11.2-q13.1, 16p13.11, and 17p12). Further, we identified BTBD9 as a candidate gene for OCD. We also sequenced exomes of ten "CNV positive" trios and identified in one an additional plausibly relevant mutation: a 13 bp exonic deletion in DRD4. CONCLUSIONS: Our findings suggest that rare CNVs may contribute to the etiology of OCD. En ligne : http://dx.doi.org/10.1186/s11689-016-9170-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349 [article] Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation [texte imprimé] / MatthewJ GAZZELLONE, Auteur ; Mehdi ZARREI, Auteur ; Christie L. BURTON, Auteur ; Susan WALKER, Auteur ; Mohammed UDDIN, Auteur ; S.M. SHAHEEN, Auteur ; Julie COSTE, Auteur ; Rageen RAJENDRAM, Auteur ; Reva J. SCHACHTER, Auteur ; Marlena COLASANTO, Auteur ; Gregory L. HANNA, Auteur ; David R. ROSENBERG, Auteur ; Noam SORENI, Auteur ; Kate D. FITZGERALD, Auteur ; Christian R. MARSHALL, Auteur ; Janet A. BUCHANAN, Auteur ; Daniele MERICO, Auteur ; Paul D. ARNOLD, Auteur ; Stephen SCHERER, Auteur . - p.36. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.36 Mots-clés : Copy number variation  Obsessive-compulsive disorder  Pediatrics  Whole-exome sequencing Index. décimale : PER Périodiques Résumé : BACKGROUND: Obsessive-compulsive disorder (OCD) is a heterogeneous neuropsychiatric condition, thought to have a significant genetic component. When onset occurs in childhood, affected individuals generally exhibit different characteristics from adult-onset OCD, including higher prevalence in males and increased heritability. Since neuropsychiatric conditions are associated with copy number variations (CNVs), we considered their potential role in the etiology of OCD. METHODS: We genotyped 307 unrelated pediatric probands with idiopathic OCD (including 174 that were part of complete parent-child trios) and compared their genotypes with those of 3861 population controls, to identify rare CNVs (<0.5 % frequency) of at least 15 kb in size that might contribute to OCD. RESULTS: We uncovered de novo CNVs in 4/174 probands (2.3 %). Our case cohort was enriched for CNVs in genes that encode targets of the fragile X mental retardation protein (nominal p = 1.85 x 10(-03); FDR=0.09), similar to previous findings in autism and schizophrenia. These results also identified deletions or duplications of exons in genes involved in neuronal migration (ASTN2), synapse formation (NLGN1 and PTPRD), and postsynaptic scaffolding (DLGAP1 and DLGAP2), which may be relevant to the pathogenesis of OCD. Four cases had CNVs involving known genomic disorder loci (1q21.1-21.2, 15q11.2-q13.1, 16p13.11, and 17p12). Further, we identified BTBD9 as a candidate gene for OCD. We also sequenced exomes of ten "CNV positive" trios and identified in one an additional plausibly relevant mutation: a 13 bp exonic deletion in DRD4. CONCLUSIONS: Our findings suggest that rare CNVs may contribute to the etiology of OCD. En ligne : http://dx.doi.org/10.1186/s11689-016-9170-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349

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