Annual Research Review: Rare genotypes and childhood psychopathology – uncovering diverse developmental mechanisms of ADHD risk / Gaia SCERIF in Journal of Child Psychology and Psychiatry, 56-3 (March 2015)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 56-3 (March 2015) . - p.251-273 Titre : Annual Research Review: Rare genotypes and childhood psychopathology – uncovering diverse developmental mechanisms of ADHD risk Type de document : Texte imprimé et/ou numérique Auteurs : Gaia SCERIF, Auteur ; Kate BAKER, Auteur Article en page(s) : p.251-273 Langues : Anglais (eng) Mots-clés : Rare genotypes  causal pathways  developmental mechanisms  ADHD risk Index. décimale : PER Périodiques Résumé : Background Through the increased availability and sophistication of genetic testing, it is now possible to identify causal diagnoses in a growing proportion of children with neurodevelopmental disorders. In addition to developmental delay and intellectual disability, many genetic disorders are associated with high risks of psychopathology, which curtail the wellbeing of affected individuals and their families. Beyond the identification of significant clinical needs, understanding the diverse pathways from rare genetic mutations to cognitive dysfunction and emotional–behavioural disturbance has theoretical and practical utility. Methods We overview (based on a strategic search of the literature) the state-of-the-art on causal mechanisms leading to one of the most common childhood behavioural diagnoses – attention deficit hyperactivity disorder (ADHD) – in the context of specific genetic disorders. We focus on new insights emerging from the mapping of causal pathways from identified genetic differences to neuronal biology, brain abnormalities, cognitive processing differences and ultimately behavioural symptoms of ADHD. Findings First, ADHD research in the context of rare genotypes highlights the complexity of multilevel mechanisms contributing to psychopathology risk. Second, comparisons between genetic disorders associated with similar psychopathology risks can elucidate convergent or distinct mechanisms at each level of analysis, which may inform therapeutic interventions and prognosis. Third, genetic disorders provide an unparalleled opportunity to observe dynamic developmental interactions between neurocognitive risk and behavioural symptoms. Fourth, variation in expression of psychopathology risk within each genetic disorder points to putative moderating and protective factors within the genome and the environment. Conclusion A common imperative emerging within psychopathology research is the need to investigate mechanistically how developmental trajectories converge or diverge between and within genotype-defined groups. Crucially, as genetic predispositions modify interaction dynamics from the outset, longitudinal research is required to understand the multi-level developmental processes that mediate symptom evolution. En ligne : http://dx.doi.org/10.1111/jcpp.12374 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=259 [article] Annual Research Review: Rare genotypes and childhood psychopathology – uncovering diverse developmental mechanisms of ADHD risk [Texte imprimé et/ou numérique] / Gaia SCERIF, Auteur ; Kate BAKER, Auteur . - p.251-273. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 56-3 (March 2015) . - p.251-273 Mots-clés : Rare genotypes  causal pathways  developmental mechanisms  ADHD risk Index. décimale : PER Périodiques Résumé : Background Through the increased availability and sophistication of genetic testing, it is now possible to identify causal diagnoses in a growing proportion of children with neurodevelopmental disorders. In addition to developmental delay and intellectual disability, many genetic disorders are associated with high risks of psychopathology, which curtail the wellbeing of affected individuals and their families. Beyond the identification of significant clinical needs, understanding the diverse pathways from rare genetic mutations to cognitive dysfunction and emotional–behavioural disturbance has theoretical and practical utility. Methods We overview (based on a strategic search of the literature) the state-of-the-art on causal mechanisms leading to one of the most common childhood behavioural diagnoses – attention deficit hyperactivity disorder (ADHD) – in the context of specific genetic disorders. We focus on new insights emerging from the mapping of causal pathways from identified genetic differences to neuronal biology, brain abnormalities, cognitive processing differences and ultimately behavioural symptoms of ADHD. Findings First, ADHD research in the context of rare genotypes highlights the complexity of multilevel mechanisms contributing to psychopathology risk. Second, comparisons between genetic disorders associated with similar psychopathology risks can elucidate convergent or distinct mechanisms at each level of analysis, which may inform therapeutic interventions and prognosis. Third, genetic disorders provide an unparalleled opportunity to observe dynamic developmental interactions between neurocognitive risk and behavioural symptoms. Fourth, variation in expression of psychopathology risk within each genetic disorder points to putative moderating and protective factors within the genome and the environment. Conclusion A common imperative emerging within psychopathology research is the need to investigate mechanistically how developmental trajectories converge or diverge between and within genotype-defined groups. Crucially, as genetic predispositions modify interaction dynamics from the outset, longitudinal research is required to understand the multi-level developmental processes that mediate symptom evolution. En ligne : http://dx.doi.org/10.1111/jcpp.12374 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=259

Attention across modalities as a longitudinal predictor of early outcomes: the case of fragile X syndrome / Gaia SCERIF in Journal of Child Psychology and Psychiatry, 53-6 (June 2012)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 53-6 (June 2012) . - p.641–650 Titre : Attention across modalities as a longitudinal predictor of early outcomes: the case of fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Gaia SCERIF, Auteur ; Elena LONGHI, Auteur ; Victoria COLE, Auteur ; Annette KARMILOFF-SMITH, Auteur ; Kim CORNISH, Auteur Année de publication : 2012 Article en page(s) : p.641–650 Langues : Anglais (eng) Mots-clés : Fragile X syndrome  attention deficits  longitudinal predictors of outcomes Index. décimale : PER Périodiques Résumé : Background:  Fragile X syndrome (FXS) is an early diagnosed monogenic disorder, associated with a striking pattern of cognitive/attentional difficulties and a high risk of poor behavioural outcomes. FXS therefore represents an ideal model disorder to study prospectively the impact of early attention deficits on behaviour. Methods:  Thirty-seven boys with FXS aged 4–10 years and 74 typically developing (TD) boys took part. Study 1 was designed to assess visual and auditory attention at two time-points, 1 year apart. Study 2 investigated attention to multimodal information. Both tested attention markers as longitudinal predictors of risk for poor behaviour in FXS. Results:  Children with FXS attended less well than mental-age matched TD boys and experienced greater difficulties with auditory compared to visual stimuli. In addition, unlike TD children, they did not benefit from multimodal information. Attention markers were significant predictors of later behavioural difficulties in boys with FXS. Conclusions:  Findings demonstrate, for the first time, greater difficulties with auditory attention and atypical processing of multimodal information, in addition to pervasive global attentional difficulties in boys with FXS. Attention predicted outcomes longitudinally, underscoring the need to dissect what drives differing developmental trajectories for individual children within a seemingly homogeneous group. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2011.02515.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=157 [article] Attention across modalities as a longitudinal predictor of early outcomes: the case of fragile X syndrome [Texte imprimé et/ou numérique] / Gaia SCERIF, Auteur ; Elena LONGHI, Auteur ; Victoria COLE, Auteur ; Annette KARMILOFF-SMITH, Auteur ; Kim CORNISH, Auteur . - 2012 . - p.641–650. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 53-6 (June 2012) . - p.641–650 Mots-clés : Fragile X syndrome  attention deficits  longitudinal predictors of outcomes Index. décimale : PER Périodiques Résumé : Background:  Fragile X syndrome (FXS) is an early diagnosed monogenic disorder, associated with a striking pattern of cognitive/attentional difficulties and a high risk of poor behavioural outcomes. FXS therefore represents an ideal model disorder to study prospectively the impact of early attention deficits on behaviour. Methods:  Thirty-seven boys with FXS aged 4–10 years and 74 typically developing (TD) boys took part. Study 1 was designed to assess visual and auditory attention at two time-points, 1 year apart. Study 2 investigated attention to multimodal information. Both tested attention markers as longitudinal predictors of risk for poor behaviour in FXS. Results:  Children with FXS attended less well than mental-age matched TD boys and experienced greater difficulties with auditory compared to visual stimuli. In addition, unlike TD children, they did not benefit from multimodal information. Attention markers were significant predictors of later behavioural difficulties in boys with FXS. Conclusions:  Findings demonstrate, for the first time, greater difficulties with auditory attention and atypical processing of multimodal information, in addition to pervasive global attentional difficulties in boys with FXS. Attention predicted outcomes longitudinally, underscoring the need to dissect what drives differing developmental trajectories for individual children within a seemingly homogeneous group. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2011.02515.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=157

Gene functional networks and autism spectrum characteristics in young people with intellectual disability: a dimensional phenotyping study / Diandra BRKI? in Molecular Autism, 11 (2020)  

Public ISBD [article]  inMolecular Autism > 11 (2020) Titre : Gene functional networks and autism spectrum characteristics in young people with intellectual disability: a dimensional phenotyping study Type de document : Texte imprimé et/ou numérique Auteurs : Diandra BRKI?, Auteur ; Elise NG-CORDELL, Auteur ; Sinéad O'BRIEN, Auteur ; Gaia SCERIF, Auteur ; Duncan E. ASTLE, Auteur ; Kate BAKER, Auteur Langues : Anglais (eng) Mots-clés : Anxiety  Autism dimensions  Genetics  Hyperactivity  Intellectual disability Index. décimale : PER Périodiques Résumé : BACKGROUND: The relationships between specific genetic aetiology and phenotype in neurodevelopmental disorders are complex and hotly contested. Genes associated with intellectual disability (ID) can be grouped into networks according to gene function. This study explored whether individuals with ID show differences in autism spectrum characteristics (ASC), depending on the functional network membership of their rare, pathogenic de novo genetic variants. METHODS: Children and young people with ID of known genetic origin were allocated to two broad functional network groups: synaptic physiology (n?=?29) or chromatin regulation (n?=?23). We applied principle components analysis to the Social Responsiveness Scale to map the structure of ASC in this population and identified three components-Inflexibility, Social Understanding and Social Motivation. We then used Akaike information criterion to test the best fitting models for predicting ASC components, including demographic factors (age, gender), non-ASC behavioural factors (global adaptive function, anxiety, hyperactivity, inattention), and gene functional networks. RESULTS: We found that, when other factors are accounted for, the chromatin regulation group showed higher levels of Inflexibility. We also observed contrasting predictors of ASC within each network group. Within the chromatin regulation group, Social Understanding was associated with inattention, and Social Motivation was predicted by hyperactivity. Within the synaptic group, Social Understanding was associated with hyperactivity, and Social Motivation was linked to anxiety. LIMITATIONS: Functional network definitions were manually curated based on multiple sources of evidence, but a data-driven approach to classification may be more robust. Sample sizes for rare genetic diagnoses remain small, mitigated by our network-based approach to group comparisons. This is a cross-sectional study across a wide age range, and longitudinal data within focused age groups will be informative of developmental trajectories across network groups. CONCLUSION: We report that gene functional networks can predict Inflexibility, but not other ASC dimensions. Contrasting behavioural associations within each group suggest network-specific developmental pathways from genomic variation to autism. Simple classification of neurodevelopmental disorder genes as high risk or low risk for autism is unlikely to be valid or useful. En ligne : http://dx.doi.org/10.1186/s13229-020-00403-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=438 [article] Gene functional networks and autism spectrum characteristics in young people with intellectual disability: a dimensional phenotyping study [Texte imprimé et/ou numérique] / Diandra BRKI?, Auteur ; Elise NG-CORDELL, Auteur ; Sinéad O'BRIEN, Auteur ; Gaia SCERIF, Auteur ; Duncan E. ASTLE, Auteur ; Kate BAKER, Auteur. Langues : Anglais (eng) in Molecular Autism > 11 (2020) Mots-clés : Anxiety  Autism dimensions  Genetics  Hyperactivity  Intellectual disability Index. décimale : PER Périodiques Résumé : BACKGROUND: The relationships between specific genetic aetiology and phenotype in neurodevelopmental disorders are complex and hotly contested. Genes associated with intellectual disability (ID) can be grouped into networks according to gene function. This study explored whether individuals with ID show differences in autism spectrum characteristics (ASC), depending on the functional network membership of their rare, pathogenic de novo genetic variants. METHODS: Children and young people with ID of known genetic origin were allocated to two broad functional network groups: synaptic physiology (n?=?29) or chromatin regulation (n?=?23). We applied principle components analysis to the Social Responsiveness Scale to map the structure of ASC in this population and identified three components-Inflexibility, Social Understanding and Social Motivation. We then used Akaike information criterion to test the best fitting models for predicting ASC components, including demographic factors (age, gender), non-ASC behavioural factors (global adaptive function, anxiety, hyperactivity, inattention), and gene functional networks. RESULTS: We found that, when other factors are accounted for, the chromatin regulation group showed higher levels of Inflexibility. We also observed contrasting predictors of ASC within each network group. Within the chromatin regulation group, Social Understanding was associated with inattention, and Social Motivation was predicted by hyperactivity. Within the synaptic group, Social Understanding was associated with hyperactivity, and Social Motivation was linked to anxiety. LIMITATIONS: Functional network definitions were manually curated based on multiple sources of evidence, but a data-driven approach to classification may be more robust. Sample sizes for rare genetic diagnoses remain small, mitigated by our network-based approach to group comparisons. This is a cross-sectional study across a wide age range, and longitudinal data within focused age groups will be informative of developmental trajectories across network groups. CONCLUSION: We report that gene functional networks can predict Inflexibility, but not other ASC dimensions. Contrasting behavioural associations within each group suggest network-specific developmental pathways from genomic variation to autism. Simple classification of neurodevelopmental disorder genes as high risk or low risk for autism is unlikely to be valid or useful. En ligne : http://dx.doi.org/10.1186/s13229-020-00403-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=438

Learning to read in Williams syndrome and Down syndrome: syndrome-specific precursors and developmental trajectories / Ann STEELE in Journal of Child Psychology and Psychiatry, 54-7 (July 2013)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 54-7 (July 2013) . - p.754-762 Titre : Learning to read in Williams syndrome and Down syndrome: syndrome-specific precursors and developmental trajectories Type de document : Texte imprimé et/ou numérique Auteurs : Ann STEELE, Auteur ; Gaia SCERIF, Auteur ; Kim CORNISH, Auteur ; Annette KARMILOFF-SMITH, Auteur Article en page(s) : p.754-762 Langues : Anglais (eng) Mots-clés : Down syndrome  Williams syndrome  reading  phonological awareness  letter knowledge  longitudinal  predictors Index. décimale : PER Périodiques Résumé : Background In typical development, early reading is underpinned by language skills, like vocabulary and phonological awareness (PA), as well as taught skills like letter knowledge. Less is understood about how early reading develops in children with neurodevelopmental disorders who display specific profiles of linguistic strengths and weaknesses, such as Down syndrome (DS) and Williams syndrome (WS). Methods Early reading, letter knowledge, rhyme matching, phoneme matching and receptive vocabulary were assessed in 26 children with DS and 26 children with WS between 4 and 8 years, as well as in two groups of typically developing (TD) children matched on nonverbal mental age (NVMA controls) or reading (RA controls). Reading was also measured 1 year later in DS, WS and RA controls to assess reading growth and its longitudinal predictors. Results Despite poor PA and vocabulary, children with DS displayed good reading and letter knowledge, compared with NVMA controls. Performance of children with WS was equivalent to RA controls and superior to NVMA controls on all tasks. Longitudinal delays emerged in reading in both DS and WS compared with RA controls. Vocabulary was a significant longitudinal predictor of reading growth for all children, but, for both children with DS and WS, and unlike RA controls, letter knowledge and PA were not. Conclusions Children with DS and WS display atypical developmental patterns in the earliest stages of reading, further underlining the importance of cross-syndrome, longitudinal research, which tracks all levels of development in neurodevelopmental disorders. Identifying early syndrome-specific profiles of strengths and weaknesses underlying literacy development is critical for planning intervention programmes. En ligne : http://dx.doi.org/10.1111/jcpp.12070 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=203 [article] Learning to read in Williams syndrome and Down syndrome: syndrome-specific precursors and developmental trajectories [Texte imprimé et/ou numérique] / Ann STEELE, Auteur ; Gaia SCERIF, Auteur ; Kim CORNISH, Auteur ; Annette KARMILOFF-SMITH, Auteur . - p.754-762. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 54-7 (July 2013) . - p.754-762 Mots-clés : Down syndrome  Williams syndrome  reading  phonological awareness  letter knowledge  longitudinal  predictors Index. décimale : PER Périodiques Résumé : Background In typical development, early reading is underpinned by language skills, like vocabulary and phonological awareness (PA), as well as taught skills like letter knowledge. Less is understood about how early reading develops in children with neurodevelopmental disorders who display specific profiles of linguistic strengths and weaknesses, such as Down syndrome (DS) and Williams syndrome (WS). Methods Early reading, letter knowledge, rhyme matching, phoneme matching and receptive vocabulary were assessed in 26 children with DS and 26 children with WS between 4 and 8 years, as well as in two groups of typically developing (TD) children matched on nonverbal mental age (NVMA controls) or reading (RA controls). Reading was also measured 1 year later in DS, WS and RA controls to assess reading growth and its longitudinal predictors. Results Despite poor PA and vocabulary, children with DS displayed good reading and letter knowledge, compared with NVMA controls. Performance of children with WS was equivalent to RA controls and superior to NVMA controls on all tasks. Longitudinal delays emerged in reading in both DS and WS compared with RA controls. Vocabulary was a significant longitudinal predictor of reading growth for all children, but, for both children with DS and WS, and unlike RA controls, letter knowledge and PA were not. Conclusions Children with DS and WS display atypical developmental patterns in the earliest stages of reading, further underlining the importance of cross-syndrome, longitudinal research, which tracks all levels of development in neurodevelopmental disorders. Identifying early syndrome-specific profiles of strengths and weaknesses underlying literacy development is critical for planning intervention programmes. En ligne : http://dx.doi.org/10.1111/jcpp.12070 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=203

Mapping developmental trajectories of attention and working memory in fragile X syndrome: Developmental freeze or developmental change? / Kim CORNISH in Development and Psychopathology, 25-2 (May 2013)  

Public ISBD [article]  inDevelopment and Psychopathology > 25-2 (May 2013) . - p.365-376 Titre : Mapping developmental trajectories of attention and working memory in fragile X syndrome: Developmental freeze or developmental change? Type de document : Texte imprimé et/ou numérique Auteurs : Kim CORNISH, Auteur ; Victoria COLE, Auteur ; Elena LONGHI, Auteur ; Annette KARMILOFF-SMITH, Auteur ; Gaia SCERIF, Auteur Article en page(s) : p.365-376 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) has a characteristic cognitive “signature” that by late childhood includes core weaknesses in attention and working memory (WM), but their earlier developmental trajectories remain uncharted. Using a combined cross-sectional and prospective longitudinal design, we tested whether early profiles of attention and WM impairment in FXS indicate developmental freeze or developmental change. In Study 1, 26 young boys with FXS and 55 typically developing (TD) boys completed two experimental paradigms designed to assess cognitive aspects of attention and WM, in addition to behavioral indices of inattention and hyperactivity. Study 2 mapped longitudinal changes in 21 children with FXS and 21 TD children. In Study 1, significant weaknesses emerged for boys with FXS, with no substantial improvement over chronological age. Mapping performance against mental age level revealed delay, but it also yielded a similar attention and WM profile to TD boys. In Study 2, longitudinal improvements for boys with FXS paralleled those in TD children. In conclusion, cognitive attention and WM, although delayed in FXS, reveal developmental change, rather than “arrest.” Our findings underscore the need for going beyond cross-sectional group comparisons and gross behavioral indices to map cognitive changes longitudinally in developmental disorders. En ligne : http://dx.doi.org/10.1017/S0954579412001113 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=199 [article] Mapping developmental trajectories of attention and working memory in fragile X syndrome: Developmental freeze or developmental change? [Texte imprimé et/ou numérique] / Kim CORNISH, Auteur ; Victoria COLE, Auteur ; Elena LONGHI, Auteur ; Annette KARMILOFF-SMITH, Auteur ; Gaia SCERIF, Auteur . - p.365-376. Langues : Anglais (eng) in Development and Psychopathology > 25-2 (May 2013) . - p.365-376 Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) has a characteristic cognitive “signature” that by late childhood includes core weaknesses in attention and working memory (WM), but their earlier developmental trajectories remain uncharted. Using a combined cross-sectional and prospective longitudinal design, we tested whether early profiles of attention and WM impairment in FXS indicate developmental freeze or developmental change. In Study 1, 26 young boys with FXS and 55 typically developing (TD) boys completed two experimental paradigms designed to assess cognitive aspects of attention and WM, in addition to behavioral indices of inattention and hyperactivity. Study 2 mapped longitudinal changes in 21 children with FXS and 21 TD children. In Study 1, significant weaknesses emerged for boys with FXS, with no substantial improvement over chronological age. Mapping performance against mental age level revealed delay, but it also yielded a similar attention and WM profile to TD boys. In Study 2, longitudinal improvements for boys with FXS paralleled those in TD children. In conclusion, cognitive attention and WM, although delayed in FXS, reveal developmental change, rather than “arrest.” Our findings underscore the need for going beyond cross-sectional group comparisons and gross behavioral indices to map cognitive changes longitudinally in developmental disorders. En ligne : http://dx.doi.org/10.1017/S0954579412001113 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=199

Maternal perinatal mental health and offspring academic achievement at age 16: the mediating role of childhood executive function / Rebecca M. PEARSON in Journal of Child Psychology and Psychiatry, 57-4 (April 2016)  

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Motivational incentives and methylphenidate enhance electrophysiological correlates of error monitoring in children with attention deficit/hyperactivity disorder / Madeleine J. GROOM in Journal of Child Psychology and Psychiatry, 54-8 (August 2013)  

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Social and emotional characteristics of girls and young women with DDX3X-associated intellectual disability: a descriptive and comparative study / Elise NG-CORDELL in Journal of Autism and Developmental Disorders, 53-8 (August 2023)  

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Task-related default mode network modulation and inhibitory control in ADHD: effects of motivation and methylphenidate / Elizabeth B. LIDDLE in Journal of Child Psychology and Psychiatry, 52-7 (July 2011)  

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