Annual Research Review: Impact of advances in genetics in understanding developmental psychopathology / Anjene M. ADDINGTON in Journal of Child Psychology and Psychiatry, 53-5 (May 2012)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 53-5 (May 2012) . - p.510-518 Titre : Annual Research Review: Impact of advances in genetics in understanding developmental psychopathology Type de document : Texte imprimé et/ou numérique Auteurs : Anjene M. ADDINGTON, Auteur ; Judith RAPOPORT, Auteur Année de publication : 2012 Article en page(s) : p.510-518 Langues : Anglais (eng) Mots-clés : Developmental psychopathology  genetics  copy number variantspre-natal diagnosis  nosology  prevention Index. décimale : PER Périodiques Résumé : It was hoped that diagnostic guidelines for, and treatment of, child psychiatric disorders in DSM-5 would be informed by the wealth of clinical genetic research related to neurodevelopmental disorders. In spite of remarkable advances in genetic technology, this has not been the case. Candidate gene, genome-wide association, and rare copy number variant (CNV) studies have been carried out for attention-deficit/hyperactivity disorder (ADHD), Autism, Tourette’s Syndrome, and schizophrenia, with intriguing results, but environmental factors, incomplete penetrance, pleiotropy, and genetic heterogeneity, underlying any given phenotype have limited clinical translation. One promising approach may be the use of developmental brain imaging measures as more relevant phenotypes. This is particularly important, as subtle abnormalities in timing and expression of gene pathways underlying brain development may well link these disorders and be the ultimate target of treatments. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2011.02478.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=154 [article] Annual Research Review: Impact of advances in genetics in understanding developmental psychopathology [Texte imprimé et/ou numérique] / Anjene M. ADDINGTON, Auteur ; Judith RAPOPORT, Auteur . - 2012 . - p.510-518. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 53-5 (May 2012) . - p.510-518 Mots-clés : Developmental psychopathology  genetics  copy number variantspre-natal diagnosis  nosology  prevention Index. décimale : PER Périodiques Résumé : It was hoped that diagnostic guidelines for, and treatment of, child psychiatric disorders in DSM-5 would be informed by the wealth of clinical genetic research related to neurodevelopmental disorders. In spite of remarkable advances in genetic technology, this has not been the case. Candidate gene, genome-wide association, and rare copy number variant (CNV) studies have been carried out for attention-deficit/hyperactivity disorder (ADHD), Autism, Tourette’s Syndrome, and schizophrenia, with intriguing results, but environmental factors, incomplete penetrance, pleiotropy, and genetic heterogeneity, underlying any given phenotype have limited clinical translation. One promising approach may be the use of developmental brain imaging measures as more relevant phenotypes. This is particularly important, as subtle abnormalities in timing and expression of gene pathways underlying brain development may well link these disorders and be the ultimate target of treatments. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2011.02478.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=154

Childhood onset schizophrenia: cortical brain abnormalities as young adults / Deanna GREENSTEIN in Journal of Child Psychology and Psychiatry, 47-10 (October 2006)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 47-10 (October 2006) . - p.1003–1012 Titre : Childhood onset schizophrenia: cortical brain abnormalities as young adults Type de document : Texte imprimé et/ou numérique Auteurs : Deanna GREENSTEIN, Auteur ; Liv S. CLASEN, Auteur ; Jay N. GIEDD, Auteur ; Jason LERCH, Auteur ; Philip SHAW, Auteur ; Peter GOCHMAN, Auteur ; Judith RAPOPORT, Auteur ; Nitin GOGTAY, Auteur Année de publication : 2007 Article en page(s) : p.1003–1012 Langues : Anglais (eng) Mots-clés : Childhood-onset-schizophrenia MRI cortical-thickness development neurodevelopment schizophrenia Index. décimale : PER Périodiques Résumé : Background: Childhood onset schizophrenia (COS) is a rare but severe form of the adult onset disorder. While structural brain imaging studies show robust, widespread, and progressive gray matter loss in COS during adolescence, there have been no longitudinal studies of sufficient duration to examine comparability with the more common adult onset illness. Methods: Neuro-anatomic magnetic resonance scans were obtained prospectively from ages 7 through 26 in 70 children diagnosed with COS and age and sex matched healthy controls. Cortical thickness was measured at 40,962 points across the cerebral hemispheres using a novel, fully automated, validated method. Patterns of patient–control differences in cortical development were compared over a 19-year period. Results: Throughout the age range, the COS group had significantly smaller mean cortical thickness compared to controls. However, the COS brain developmental trajectory appeared to normalize in posterior (parietal) regions, and remained divergent in the anterior regions (frontal and temporal) regions, and the pattern of loss became more like that seen in adults. Conclusions: Cortical thickness loss in COS appears to localize with age to prefrontal and temporal regions that are seen for both medication naïve and medicated adult onset patients. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2006.01658.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=790 [article] Childhood onset schizophrenia: cortical brain abnormalities as young adults [Texte imprimé et/ou numérique] / Deanna GREENSTEIN, Auteur ; Liv S. CLASEN, Auteur ; Jay N. GIEDD, Auteur ; Jason LERCH, Auteur ; Philip SHAW, Auteur ; Peter GOCHMAN, Auteur ; Judith RAPOPORT, Auteur ; Nitin GOGTAY, Auteur . - 2007 . - p.1003–1012. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 47-10 (October 2006) . - p.1003–1012 Mots-clés : Childhood-onset-schizophrenia MRI cortical-thickness development neurodevelopment schizophrenia Index. décimale : PER Périodiques Résumé : Background: Childhood onset schizophrenia (COS) is a rare but severe form of the adult onset disorder. While structural brain imaging studies show robust, widespread, and progressive gray matter loss in COS during adolescence, there have been no longitudinal studies of sufficient duration to examine comparability with the more common adult onset illness. Methods: Neuro-anatomic magnetic resonance scans were obtained prospectively from ages 7 through 26 in 70 children diagnosed with COS and age and sex matched healthy controls. Cortical thickness was measured at 40,962 points across the cerebral hemispheres using a novel, fully automated, validated method. Patterns of patient–control differences in cortical development were compared over a 19-year period. Results: Throughout the age range, the COS group had significantly smaller mean cortical thickness compared to controls. However, the COS brain developmental trajectory appeared to normalize in posterior (parietal) regions, and remained divergent in the anterior regions (frontal and temporal) regions, and the pattern of loss became more like that seen in adults. Conclusions: Cortical thickness loss in COS appears to localize with age to prefrontal and temporal regions that are seen for both medication naïve and medicated adult onset patients. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2006.01658.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=790

Dynamic mapping of cortical development before and after the onset of pediatric bipolar illness / Nitin GOGTAY in Journal of Child Psychology and Psychiatry, 48-9 (September 2007)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 48-9 (September 2007) . - p.852–862 Titre : Dynamic mapping of cortical development before and after the onset of pediatric bipolar illness Type de document : Texte imprimé et/ou numérique Auteurs : Nitin GOGTAY, Auteur ; Liv S. CLASEN, Auteur ; Paul M. THOMPSON, Auteur ; Arthur W. TOGA, Auteur ; Tom F. III NUGENT, Auteur ; David JUNG, Auteur ; Wendy SHARP, Auteur ; Marge LENANE, Auteur ; Kiralee M. HAYASHI, Auteur ; David H. HERMAN, Auteur ; Anna ORDONEZ, Auteur ; Ellen LEIBENLUFT, Auteur ; Judith RAPOPORT, Auteur ; Deanna GREENSTEIN, Auteur ; Jay N. GIEDD, Auteur ; Catherine VAITUZIS, Auteur Année de publication : 2007 Article en page(s) : p.852–862 Langues : Anglais (eng) Mots-clés : Pediatric bipolar MRI mapping gray matter Index. décimale : PER Périodiques Résumé : Background: There are, to date, no pre-post onset longitudinal imaging studies of bipolar disorder at any age. We report the first prospective study of cortical brain development in pediatric bipolar illness for 9 male children, visualized before and after illness onset. Method: We contrast this pattern with that observed in a matched group of healthy children as well as in a matched group of 8 children with ‘atypical psychosis’ who had similar initial presentation marked by mood dysregulation and transient psychosis (labeled as ‘multi-dimensionally impaired’ (MDI)) as in the bipolar group, but have not, to date, developed bipolar illness. Results: Dynamic maps, reconstructed by applying novel cortical pattern matching algorithms, for the children who became bipolar I showed subtle, regionally specific, bilaterally asymmetrical cortical changes. Cortical GM increased over the left temporal cortex and decreased bilaterally in the anterior (and sub genual) cingulate cortex. This was seen most strikingly after the illness onset, and showed a pattern distinct from that seen in childhood onset schizophrenia. The bipolar neurodevelopmental trajectory was generally shared by the children who remained with MDI diagnosis without converting to bipolar I, suggesting that this pattern of cortical development may reflect affective dysregulation (lability) in general. Conclusions: These dynamic trajectories of cortical development may explain age-related disparate findings from cross-sectional studies of bipolar illness, and suggest the importance of mood disordered non-bipolar control group in future studies. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2007.01747.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=422 [article] Dynamic mapping of cortical development before and after the onset of pediatric bipolar illness [Texte imprimé et/ou numérique] / Nitin GOGTAY, Auteur ; Liv S. CLASEN, Auteur ; Paul M. THOMPSON, Auteur ; Arthur W. TOGA, Auteur ; Tom F. III NUGENT, Auteur ; David JUNG, Auteur ; Wendy SHARP, Auteur ; Marge LENANE, Auteur ; Kiralee M. HAYASHI, Auteur ; David H. HERMAN, Auteur ; Anna ORDONEZ, Auteur ; Ellen LEIBENLUFT, Auteur ; Judith RAPOPORT, Auteur ; Deanna GREENSTEIN, Auteur ; Jay N. GIEDD, Auteur ; Catherine VAITUZIS, Auteur . - 2007 . - p.852–862. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 48-9 (September 2007) . - p.852–862 Mots-clés : Pediatric bipolar MRI mapping gray matter Index. décimale : PER Périodiques Résumé : Background: There are, to date, no pre-post onset longitudinal imaging studies of bipolar disorder at any age. We report the first prospective study of cortical brain development in pediatric bipolar illness for 9 male children, visualized before and after illness onset. Method: We contrast this pattern with that observed in a matched group of healthy children as well as in a matched group of 8 children with ‘atypical psychosis’ who had similar initial presentation marked by mood dysregulation and transient psychosis (labeled as ‘multi-dimensionally impaired’ (MDI)) as in the bipolar group, but have not, to date, developed bipolar illness. Results: Dynamic maps, reconstructed by applying novel cortical pattern matching algorithms, for the children who became bipolar I showed subtle, regionally specific, bilaterally asymmetrical cortical changes. Cortical GM increased over the left temporal cortex and decreased bilaterally in the anterior (and sub genual) cingulate cortex. This was seen most strikingly after the illness onset, and showed a pattern distinct from that seen in childhood onset schizophrenia. The bipolar neurodevelopmental trajectory was generally shared by the children who remained with MDI diagnosis without converting to bipolar I, suggesting that this pattern of cortical development may reflect affective dysregulation (lability) in general. Conclusions: These dynamic trajectories of cortical development may explain age-related disparate findings from cross-sectional studies of bipolar illness, and suggest the importance of mood disordered non-bipolar control group in future studies. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2007.01747.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=422

Personal reflections on observational and experimental research approaches to childhood psychopathology / Judith RAPOPORT in Journal of Child Psychology and Psychiatry, 50-1-2 (January/February 2009)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 50-1-2 (January/February 2009) . - p.36-43 Titre : Personal reflections on observational and experimental research approaches to childhood psychopathology Type de document : Texte imprimé et/ou numérique Auteurs : Judith RAPOPORT, Auteur Année de publication : 2009 Article en page(s) : p.36-43 Langues : Anglais (eng) Mots-clés : Attention-deficit-hyperactivity-disorder child-psychiatry childhood-onset-schizophrenia epidemiology experimental-research follow-up-studies observational-research obsessive-compulsive-disorder pervasive-developmental-disorder stimulants Index. décimale : PER Périodiques Résumé : The past 50 years have seen dramatic changes in childhood psychopathology research. The goal of this overview is to contrast observational and experimental research approaches; both have grown more complex such that the boundary between these approaches may be blurred. Both are essential. Landmark observational studies with long-term follow-up (Robins, 1966; Yarrow, Campbell, & Burton, 1970) have had – and continue to have – unique impact on clinical research and practice. Epidemiological studies showed high rates of psychological disorder and their close tie to neurological impairment (Rutter, Tizard, & Whitemore, 1970). These studies have current impact with respect to brain imaging correlates of clinical outcome. Pharmacological studies, particularly those on stimulants and on treatment of pediatric obsessive compulsive disorder (OCD), have propelled experimental methodology and inspired translational approaches. Predicted future trends are: more informed subgrouping of our heterogeneous phenotypes, reliance on multicenter trials, and documentation of non-conventional methods of care delivery. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2008.01975.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=693 [article] Personal reflections on observational and experimental research approaches to childhood psychopathology [Texte imprimé et/ou numérique] / Judith RAPOPORT, Auteur . - 2009 . - p.36-43. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 50-1-2 (January/February 2009) . - p.36-43 Mots-clés : Attention-deficit-hyperactivity-disorder child-psychiatry childhood-onset-schizophrenia epidemiology experimental-research follow-up-studies observational-research obsessive-compulsive-disorder pervasive-developmental-disorder stimulants Index. décimale : PER Périodiques Résumé : The past 50 years have seen dramatic changes in childhood psychopathology research. The goal of this overview is to contrast observational and experimental research approaches; both have grown more complex such that the boundary between these approaches may be blurred. Both are essential. Landmark observational studies with long-term follow-up (Robins, 1966; Yarrow, Campbell, & Burton, 1970) have had – and continue to have – unique impact on clinical research and practice. Epidemiological studies showed high rates of psychological disorder and their close tie to neurological impairment (Rutter, Tizard, & Whitemore, 1970). These studies have current impact with respect to brain imaging correlates of clinical outcome. Pharmacological studies, particularly those on stimulants and on treatment of pediatric obsessive compulsive disorder (OCD), have propelled experimental methodology and inspired translational approaches. Predicted future trends are: more informed subgrouping of our heterogeneous phenotypes, reliance on multicenter trials, and documentation of non-conventional methods of care delivery. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2008.01975.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=693

Sequencing and Analyzing the t (1;7) Reciprocal Translocation Breakpoints Associated with a Case of Childhood-onset Schizophrenia/Autistic Disorder / Jacquelyn R. IDOL in Journal of Autism and Developmental Disorders, 38-4 (April 2008)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 38-4 (April 2008) . - p.668-677 Titre : Sequencing and Analyzing the t (1;7) Reciprocal Translocation Breakpoints Associated with a Case of Childhood-onset Schizophrenia/Autistic Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Jacquelyn R. IDOL, Auteur ; Judith RAPOPORT, Auteur ; Anjene M. ADDINGTON, Auteur ; Robert T. LONG, Auteur ; Eric D. GREEN, Auteur Année de publication : 2008 Article en page(s) : p.668-677 Langues : Anglais (eng) Mots-clés : Schizophrenia Autism Translocation Genetics Genome-analysis Cytogenetics Index. décimale : PER Périodiques Résumé : We characterized a t(1;7)(p22;q21) reciprocal translocation in a patient with childhood-onset schizophrenia (COS) and autism using genome mapping and sequencing methods. Based on genomic maps of human chromosome 7 and fluorescence in situ hybridization (FISH) studies, we delimited the region of 7q21 harboring the translocation breakpoint to a ∼16-kb interval. A cosmid containing the translocation-associated 1:7 junction on der(1) was isolated and sequenced, revealing the positions on chromosomes 1 and 7, respectively, where the translocation occurred. PCR-based studies enabled the isolation and sequencing of the reciprocal 7:1 junction on der(7). No currently recognized gene on either chromosome appears to be disrupted by the translocation. We further found no evidence for copy-number differences in the genomic regions flanking the translocation junctions in the patient. Our efforts provide sequence-based information about a schizophrenia/autism-associated translocation, and may facilitate future studies investigating the genetic bases of these disorders. En ligne : http://dx.doi.org/10.1007/s10803-007-0435-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=340 [article] Sequencing and Analyzing the t (1;7) Reciprocal Translocation Breakpoints Associated with a Case of Childhood-onset Schizophrenia/Autistic Disorder [Texte imprimé et/ou numérique] / Jacquelyn R. IDOL, Auteur ; Judith RAPOPORT, Auteur ; Anjene M. ADDINGTON, Auteur ; Robert T. LONG, Auteur ; Eric D. GREEN, Auteur . - 2008 . - p.668-677. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 38-4 (April 2008) . - p.668-677 Mots-clés : Schizophrenia Autism Translocation Genetics Genome-analysis Cytogenetics Index. décimale : PER Périodiques Résumé : We characterized a t(1;7)(p22;q21) reciprocal translocation in a patient with childhood-onset schizophrenia (COS) and autism using genome mapping and sequencing methods. Based on genomic maps of human chromosome 7 and fluorescence in situ hybridization (FISH) studies, we delimited the region of 7q21 harboring the translocation breakpoint to a ∼16-kb interval. A cosmid containing the translocation-associated 1:7 junction on der(1) was isolated and sequenced, revealing the positions on chromosomes 1 and 7, respectively, where the translocation occurred. PCR-based studies enabled the isolation and sequencing of the reciprocal 7:1 junction on der(7). No currently recognized gene on either chromosome appears to be disrupted by the translocation. We further found no evidence for copy-number differences in the genomic regions flanking the translocation junctions in the patient. Our efforts provide sequence-based information about a schizophrenia/autism-associated translocation, and may facilitate future studies investigating the genetic bases of these disorders. En ligne : http://dx.doi.org/10.1007/s10803-007-0435-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=340

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