Across the continuum of attention skills: a twin study of the SWAN ADHD rating scale / Tinca J. C. POLDERMAN in Journal of Child Psychology and Psychiatry, 48-11 (November 2007)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 48-11 (November 2007) . - p.1080–1087 Titre : Across the continuum of attention skills: a twin study of the SWAN ADHD rating scale Type de document : Texte imprimé et/ou numérique Auteurs : Tinca J. C. POLDERMAN, Auteur ; James J. HUDZIAK, Auteur ; Dorret I. BOOMSMA, Auteur ; Frank C. VERHULST, Auteur ; Eske M. DERKS, Auteur ; Daniëlle POSTHUMA, Auteur Année de publication : 2007 Article en page(s) : p.1080–1087 Langues : Anglais (eng) Mots-clés : Attention-deficit hyperactivity heritability twin study Index. décimale : PER Périodiques Résumé : Most behavior checklists for attention problems or attention deficit/hyperactivity disorder (ADHD) such as the Child Behavior Checklist (CBCL) have a narrow range of scores, focusing on the extent to which problems are present. It has been proposed that measuring attention on a continuum, from positive attention skills to attention problems, will add value to our understanding of ADHD and related problems. The Strengths and Weaknesses of ADHD symptoms and Normal behavior scale (SWAN) is such a scale. Items of the SWAN are scored on a seven-point scale, with in the middle ‘average behavior’ and on the extremes ‘far below average’ and ‘far above average’. Method: The SWAN and the CBCL were completed by mothers of respectively 560 and 469 12-year-old twin pairs. The SWAN consists of nine DSM-IV items for Attention Deficit (AD) and nine DSM-IV items for Hyperactivity/Impulsivity (HI). The CBCL Attention Problem (AP) scale consists of 11 items, which are rated on a three-point scale. Results: Children who had a score of zero on the CBCL AP scale can be further differentiated using the SWAN, with variation seen between the average behavior and far above average range. In addition, SWAN scores were normally distributed, rather than kurtotic or skewed as is often seen with other behavioral checklists. The CBCL AP scale and the SWAN-HI and AD scale were strongly influenced by genetic factors (73%, 90% and 82%, respectively). However, there were striking differences in genetic architecture: variation in CBCL AP scores is in large part explained by non-additive genetic influences. Variation in SWAN scores is explained by additive genetic influences only. Conclusion: Ratings on the SWAN cover the continuum from positive attention skills to attention and hyperactivity problems that define ADHD. Instruments such as the SWAN offer clinicians and researchers the opportunity to examine variation in both strengths and weaknesses in attention skills. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2007.01783.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=297 [article] Across the continuum of attention skills: a twin study of the SWAN ADHD rating scale [Texte imprimé et/ou numérique] / Tinca J. C. POLDERMAN, Auteur ; James J. HUDZIAK, Auteur ; Dorret I. BOOMSMA, Auteur ; Frank C. VERHULST, Auteur ; Eske M. DERKS, Auteur ; Daniëlle POSTHUMA, Auteur . - 2007 . - p.1080–1087. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 48-11 (November 2007) . - p.1080–1087 Mots-clés : Attention-deficit hyperactivity heritability twin study Index. décimale : PER Périodiques Résumé : Most behavior checklists for attention problems or attention deficit/hyperactivity disorder (ADHD) such as the Child Behavior Checklist (CBCL) have a narrow range of scores, focusing on the extent to which problems are present. It has been proposed that measuring attention on a continuum, from positive attention skills to attention problems, will add value to our understanding of ADHD and related problems. The Strengths and Weaknesses of ADHD symptoms and Normal behavior scale (SWAN) is such a scale. Items of the SWAN are scored on a seven-point scale, with in the middle ‘average behavior’ and on the extremes ‘far below average’ and ‘far above average’. Method: The SWAN and the CBCL were completed by mothers of respectively 560 and 469 12-year-old twin pairs. The SWAN consists of nine DSM-IV items for Attention Deficit (AD) and nine DSM-IV items for Hyperactivity/Impulsivity (HI). The CBCL Attention Problem (AP) scale consists of 11 items, which are rated on a three-point scale. Results: Children who had a score of zero on the CBCL AP scale can be further differentiated using the SWAN, with variation seen between the average behavior and far above average range. In addition, SWAN scores were normally distributed, rather than kurtotic or skewed as is often seen with other behavioral checklists. The CBCL AP scale and the SWAN-HI and AD scale were strongly influenced by genetic factors (73%, 90% and 82%, respectively). However, there were striking differences in genetic architecture: variation in CBCL AP scores is in large part explained by non-additive genetic influences. Variation in SWAN scores is explained by additive genetic influences only. Conclusion: Ratings on the SWAN cover the continuum from positive attention skills to attention and hyperactivity problems that define ADHD. Instruments such as the SWAN offer clinicians and researchers the opportunity to examine variation in both strengths and weaknesses in attention skills. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2007.01783.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=297

Polygenic scores for schizophrenia and educational attainment are associated with behavioural problems in early childhood in the general population / Philip R. JANSEN in Journal of Child Psychology and Psychiatry, 59-1 (January 2018)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 59-1 (January 2018) . - p.39-47 Titre : Polygenic scores for schizophrenia and educational attainment are associated with behavioural problems in early childhood in the general population Type de document : Texte imprimé et/ou numérique Auteurs : Philip R. JANSEN, Auteur ; Tinca J. C. POLDERMAN, Auteur ; Koen BOLHUIS, Auteur ; Jan VAN DER ENDE, Auteur ; Vincent W.V. JADDOE, Auteur ; Frank C. VERHULST, Auteur ; Tonya WHITE, Auteur ; Daniëlle POSTHUMA, Auteur ; Henning TIEMEIER, Auteur Article en page(s) : p.39-47 Langues : Anglais (eng) Mots-clés : Polygenic scores  psychiatric disorders  educational attainment  childhood behaviour Index. décimale : PER Périodiques Résumé : Background Genome-wide association studies in adults have identified numerous genetic variants related to psychiatric disorders and related traits, such as schizophrenia and educational attainment. However, the effects of these genetic variants on behaviour in the general population remain to be fully understood, particularly in younger populations. We investigated whether polygenic scores of five psychiatric disorders and educational attainment are related to emotional and behaviour problems during early childhood. Methods From the Generation R Study, we included participants with available genotype data and behavioural problems measured with the Child Behavior Checklist (CBCL) at the age of 3 (n = 1,902), 6 (n = 2,202) and 10 years old (n = 1,843). Polygenic scores were calculated for five psychiatric disorders and educational attainment. These polygenic scores were tested for an association with the broadband internalizing and externalizing problem scales and the specific CBCL syndrome scale scores. Results Analysis of the CBCL broadband scales showed that the schizophrenia polygenic score was associated with significantly higher internalizing scores at 3, 6 and 10 years and higher externalizing scores at age 3 and 6. The educational attainment polygenic score was associated with lower externalizing scores at all time points and lower internalizing scores at age 3. No associations were observed for the polygenic scores of bipolar disorder, major depressive disorder and autism spectrum disorder. Secondary analyses of specific syndrome scores showed that the schizophrenia polygenic score was strongly related to the Thought Problems scores. A negative association was observed between the educational attainment polygenic score and Attention Problems scores across all age groups. Conclusions Polygenic scores for adult psychiatric disorders and educational attainment are associated with variation in emotional and behavioural problems already at a very early age. En ligne : http://dx.doi.org/10.1111/jcpp.12759 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=327 [article] Polygenic scores for schizophrenia and educational attainment are associated with behavioural problems in early childhood in the general population [Texte imprimé et/ou numérique] / Philip R. JANSEN, Auteur ; Tinca J. C. POLDERMAN, Auteur ; Koen BOLHUIS, Auteur ; Jan VAN DER ENDE, Auteur ; Vincent W.V. JADDOE, Auteur ; Frank C. VERHULST, Auteur ; Tonya WHITE, Auteur ; Daniëlle POSTHUMA, Auteur ; Henning TIEMEIER, Auteur . - p.39-47. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 59-1 (January 2018) . - p.39-47 Mots-clés : Polygenic scores  psychiatric disorders  educational attainment  childhood behaviour Index. décimale : PER Périodiques Résumé : Background Genome-wide association studies in adults have identified numerous genetic variants related to psychiatric disorders and related traits, such as schizophrenia and educational attainment. However, the effects of these genetic variants on behaviour in the general population remain to be fully understood, particularly in younger populations. We investigated whether polygenic scores of five psychiatric disorders and educational attainment are related to emotional and behaviour problems during early childhood. Methods From the Generation R Study, we included participants with available genotype data and behavioural problems measured with the Child Behavior Checklist (CBCL) at the age of 3 (n = 1,902), 6 (n = 2,202) and 10 years old (n = 1,843). Polygenic scores were calculated for five psychiatric disorders and educational attainment. These polygenic scores were tested for an association with the broadband internalizing and externalizing problem scales and the specific CBCL syndrome scale scores. Results Analysis of the CBCL broadband scales showed that the schizophrenia polygenic score was associated with significantly higher internalizing scores at 3, 6 and 10 years and higher externalizing scores at age 3 and 6. The educational attainment polygenic score was associated with lower externalizing scores at all time points and lower internalizing scores at age 3. No associations were observed for the polygenic scores of bipolar disorder, major depressive disorder and autism spectrum disorder. Secondary analyses of specific syndrome scores showed that the schizophrenia polygenic score was strongly related to the Thought Problems scores. A negative association was observed between the educational attainment polygenic score and Attention Problems scores across all age groups. Conclusions Polygenic scores for adult psychiatric disorders and educational attainment are associated with variation in emotional and behavioural problems already at a very early age. En ligne : http://dx.doi.org/10.1111/jcpp.12759 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=327

Quantitative proteomic analysis of Rett iPSC-derived neuronal progenitors / Suzy VARDERIDOU-MINASIAN in Molecular Autism, 11 (2020)  

Public ISBD [article]  inMolecular Autism > 11 (2020) . - 38 p. Titre : Quantitative proteomic analysis of Rett iPSC-derived neuronal progenitors Type de document : Texte imprimé et/ou numérique Auteurs : Suzy VARDERIDOU-MINASIAN, Auteur ; Lisa HINZ, Auteur ; Dominique HAGEMANS, Auteur ; Daniëlle POSTHUMA, Auteur ; Maarten ALTELAAR, Auteur ; Vivi M. HEINE, Auteur Article en page(s) : 38 p. Langues : Anglais (eng) Mots-clés : Neuron differentiation  Quantitative mass spectrometry  Rett syndrome  TMT-10plex  iPSC Index. décimale : PER Périodiques Résumé : BACKGROUND: Rett syndrome (RTT) is a progressive neurodevelopmental disease that is characterized by abnormalities in cognitive, social, and motor skills. RTT is often caused by mutations in the X-linked gene encoding methyl-CpG binding protein 2 (MeCP2). The mechanism by which impaired MeCP2 induces the pathological abnormalities in the brain is not understood. Both patients and mouse models have shown abnormalities at molecular and cellular level before typical RTT-associated symptoms appear. This implies that underlying mechanisms are already affected during neurodevelopmental stages. METHODS: To understand the molecular mechanisms involved in disease onset, we used an RTT patient induced pluripotent stem cell (iPSC)-based model with isogenic controls and performed time-series of proteomic analysis using in-depth high-resolution quantitative mass spectrometry during early stages of neuronal development. RESULTS: We provide mass spectrometry-based quantitative proteomic data, depth of about 7000 proteins, at neuronal progenitor developmental stages of RTT patient cells and isogenic controls. Our data gives evidence of proteomic alteration at early neurodevelopmental stages, suggesting alterations long before the phase that symptoms of RTT syndrome become apparent. Significant changes are associated with the GO enrichment analysis in biological processes cell-cell adhesion, actin cytoskeleton organization, neuronal stem cell population maintenance, and pituitary gland development, next to protein changes previously associated with RTT, i.e., dendrite morphology and synaptic deficits. Differential expression increased from early to late neural stem cell phases, although proteins involved in immunity, metabolic processes, and calcium signaling were affected throughout all stages analyzed. LIMITATIONS: The limitation of our study is the number of RTT patients analyzed. As the aim of our study was to investigate a large number of proteins, only one patient was considered, of which 3 different RTT iPSC clones and 3 isogenic control iPSC clones were included. Even though this approach allowed the study of mutation-induced alterations due to the usage of isogenic controls, results should be validated on different RTT patients to suggest common disease mechanisms. CONCLUSIONS: During early neuronal differentiation, there are consistent and time-point specific proteomic alterations in RTT patient cells carrying exons 3-4 deletion in MECP2. We found changes in proteins involved in pathway associated with RTT phenotypes, including dendrite morphology and synaptogenesis. Our results provide a valuable resource of proteins and pathways for follow-up studies, investigating common mechanisms involved during early disease stages of RTT syndrome. En ligne : http://dx.doi.org/10.1186/s13229-020-00344-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427 [article] Quantitative proteomic analysis of Rett iPSC-derived neuronal progenitors [Texte imprimé et/ou numérique] / Suzy VARDERIDOU-MINASIAN, Auteur ; Lisa HINZ, Auteur ; Dominique HAGEMANS, Auteur ; Daniëlle POSTHUMA, Auteur ; Maarten ALTELAAR, Auteur ; Vivi M. HEINE, Auteur . - 38 p. Langues : Anglais (eng) in Molecular Autism > 11 (2020) . - 38 p. Mots-clés : Neuron differentiation  Quantitative mass spectrometry  Rett syndrome  TMT-10plex  iPSC Index. décimale : PER Périodiques Résumé : BACKGROUND: Rett syndrome (RTT) is a progressive neurodevelopmental disease that is characterized by abnormalities in cognitive, social, and motor skills. RTT is often caused by mutations in the X-linked gene encoding methyl-CpG binding protein 2 (MeCP2). The mechanism by which impaired MeCP2 induces the pathological abnormalities in the brain is not understood. Both patients and mouse models have shown abnormalities at molecular and cellular level before typical RTT-associated symptoms appear. This implies that underlying mechanisms are already affected during neurodevelopmental stages. METHODS: To understand the molecular mechanisms involved in disease onset, we used an RTT patient induced pluripotent stem cell (iPSC)-based model with isogenic controls and performed time-series of proteomic analysis using in-depth high-resolution quantitative mass spectrometry during early stages of neuronal development. RESULTS: We provide mass spectrometry-based quantitative proteomic data, depth of about 7000 proteins, at neuronal progenitor developmental stages of RTT patient cells and isogenic controls. Our data gives evidence of proteomic alteration at early neurodevelopmental stages, suggesting alterations long before the phase that symptoms of RTT syndrome become apparent. Significant changes are associated with the GO enrichment analysis in biological processes cell-cell adhesion, actin cytoskeleton organization, neuronal stem cell population maintenance, and pituitary gland development, next to protein changes previously associated with RTT, i.e., dendrite morphology and synaptic deficits. Differential expression increased from early to late neural stem cell phases, although proteins involved in immunity, metabolic processes, and calcium signaling were affected throughout all stages analyzed. LIMITATIONS: The limitation of our study is the number of RTT patients analyzed. As the aim of our study was to investigate a large number of proteins, only one patient was considered, of which 3 different RTT iPSC clones and 3 isogenic control iPSC clones were included. Even though this approach allowed the study of mutation-induced alterations due to the usage of isogenic controls, results should be validated on different RTT patients to suggest common disease mechanisms. CONCLUSIONS: During early neuronal differentiation, there are consistent and time-point specific proteomic alterations in RTT patient cells carrying exons 3-4 deletion in MECP2. We found changes in proteins involved in pathway associated with RTT phenotypes, including dendrite morphology and synaptogenesis. Our results provide a valuable resource of proteins and pathways for follow-up studies, investigating common mechanisms involved during early disease stages of RTT syndrome. En ligne : http://dx.doi.org/10.1186/s13229-020-00344-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427

The Construction and Validation of an Abridged Version of the Autism-Spectrum Quotient (AQ-Short) / Rosa A. HOEKSTRA in Journal of Autism and Developmental Disorders, 41-5 (May 2011)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 41-5 (May 2011) . - p.589-596 Titre : The Construction and Validation of an Abridged Version of the Autism-Spectrum Quotient (AQ-Short) Type de document : Texte imprimé et/ou numérique Auteurs : Rosa A. HOEKSTRA, Auteur ; Anna A. E. VINKHUYZEN, Auteur ; Sally WHEELWRIGHT, Auteur ; Meike BARTELS, Auteur ; Dorret I. BOOMSMA, Auteur ; Simon BARON-COHEN, Auteur ; Daniëlle POSTHUMA, Auteur ; Sophie VAN DER SLUIS, Auteur Année de publication : 2011 Article en page(s) : p.589-596 Langues : Anglais (eng) Mots-clés : Autism  Factor analysis  Validity  Reliability  Autism phenotype  Autism-spectrum quotient Index. décimale : PER Périodiques Résumé : This study reports on the development and validation of an abridged version of the 50-item Autism-Spectrum Quotient (AQ), a self-report measure of autistic traits. We aimed to reduce the number of items whilst retaining high validity and a meaningful factor structure. The item reduction procedure was performed on data from 1,263 Dutch students and general population adults. The resulting 28-item AQ-Short was subsequently validated in 3 independent samples, both clinical and controls, from the Netherlands and the UK. The AQ-Short comprises two higher-order factors assessing ‘social behavioral difficulties’ and ‘a fascination for numbers/patterns’. The clear factor structure of the AQ-Short and its high sensitivity and specificity make the AQ-Short a useful alternative to the full 50-item version. En ligne : http://dx.doi.org/10.1007/s10803-010-1073-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=121 [article] The Construction and Validation of an Abridged Version of the Autism-Spectrum Quotient (AQ-Short) [Texte imprimé et/ou numérique] / Rosa A. HOEKSTRA, Auteur ; Anna A. E. VINKHUYZEN, Auteur ; Sally WHEELWRIGHT, Auteur ; Meike BARTELS, Auteur ; Dorret I. BOOMSMA, Auteur ; Simon BARON-COHEN, Auteur ; Daniëlle POSTHUMA, Auteur ; Sophie VAN DER SLUIS, Auteur . - 2011 . - p.589-596. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 41-5 (May 2011) . - p.589-596 Mots-clés : Autism  Factor analysis  Validity  Reliability  Autism phenotype  Autism-spectrum quotient Index. décimale : PER Périodiques Résumé : This study reports on the development and validation of an abridged version of the 50-item Autism-Spectrum Quotient (AQ), a self-report measure of autistic traits. We aimed to reduce the number of items whilst retaining high validity and a meaningful factor structure. The item reduction procedure was performed on data from 1,263 Dutch students and general population adults. The resulting 28-item AQ-Short was subsequently validated in 3 independent samples, both clinical and controls, from the Netherlands and the UK. The AQ-Short comprises two higher-order factors assessing ‘social behavioral difficulties’ and ‘a fascination for numbers/patterns’. The clear factor structure of the AQ-Short and its high sensitivity and specificity make the AQ-Short a useful alternative to the full 50-item version. En ligne : http://dx.doi.org/10.1007/s10803-010-1073-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=121

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