Dépouillements

Turner syndrome and sexual differentiation of the brain: implications for understanding male-biased neurodevelopmental disorders / R. C. KNICKMEYER in Journal of Neurodevelopmental Disorders, 3-4 (December 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.293-306 Titre : Turner syndrome and sexual differentiation of the brain: implications for understanding male-biased neurodevelopmental disorders Type de document : Texte imprimé et/ou numérique Auteurs : R. C. KNICKMEYER, Auteur ; M. DAVENPORT, Auteur Article en page(s) : p.293-306 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Turner syndrome (TS) is one of the most common sex chromosome abnormalities. Affected individuals often show a unique pattern of cognitive strengths and weaknesses and are at increased risk for a number of other neurodevelopmental conditions, many of which are more common in typical males than typical females (e.g., autism and attention-deficit hyperactivity disorder). This phenotype may reflect gonadal steroid deficiency, haploinsufficiency of X chromosome genes, failure to express parentally imprinted genes, and the uncovering of X chromosome mutations. Understanding the contribution of these different mechanisms to outcome has the potential to improve clinical care for individuals with TS and to better our understanding of the differential vulnerability to and expression of neurodevelopmental disorders in males and females. In this paper, we review what is currently known about cognition and brain development in individuals with TS, discuss underlying mechanisms and their relevance to understanding male-biased neurodevelopmental conditions, and suggest directions for future research. En ligne : http://dx.doi.org/10.1007/s11689-011-9089-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Turner syndrome and sexual differentiation of the brain: implications for understanding male-biased neurodevelopmental disorders [Texte imprimé et/ou numérique] / R. C. KNICKMEYER, Auteur ; M. DAVENPORT, Auteur . - p.293-306. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.293-306 Index. décimale : PER Périodiques Résumé : Turner syndrome (TS) is one of the most common sex chromosome abnormalities. Affected individuals often show a unique pattern of cognitive strengths and weaknesses and are at increased risk for a number of other neurodevelopmental conditions, many of which are more common in typical males than typical females (e.g., autism and attention-deficit hyperactivity disorder). This phenotype may reflect gonadal steroid deficiency, haploinsufficiency of X chromosome genes, failure to express parentally imprinted genes, and the uncovering of X chromosome mutations. Understanding the contribution of these different mechanisms to outcome has the potential to improve clinical care for individuals with TS and to better our understanding of the differential vulnerability to and expression of neurodevelopmental disorders in males and females. In this paper, we review what is currently known about cognition and brain development in individuals with TS, discuss underlying mechanisms and their relevance to understanding male-biased neurodevelopmental conditions, and suggest directions for future research. En ligne : http://dx.doi.org/10.1007/s11689-011-9089-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

Prenatal exposure to beta2-adrenergic receptor agonists and risk of autism spectrum disorders / Lisa A. CROEN in Journal of Neurodevelopmental Disorders, 3-4 (December 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.307-15 Titre : Prenatal exposure to beta2-adrenergic receptor agonists and risk of autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Lisa A. CROEN, Auteur ; S. L. CONNORS, Auteur ; M. MATEVIA, Auteur ; Y. QIAN, Auteur ; C. NEWSCHAFFER, Auteur ; Andrew W. ZIMMERMAN, Auteur Article en page(s) : p.307-15 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : This study aims to investigate the association between prenatal exposure to terbutaline and other beta2 adrenergic receptor (B2AR) agonists and autism spectrum disorders (ASDs). The methodology used is a case-control study among children born from 1995 to 1999 at Kaiser Permanente Northern California hospitals. Cases (n = 291) were children with an ASD diagnosis; controls (n = 284) were children without ASDs, randomly sampled and frequency-matched to cases on sex, birth year, and delivery hospital. Exposure to B2AR agonists during 30 days prior to conception and each trimester of pregnancy was ascertained from prenatal medical records and health plan databases. The frequency of exposure to any B2AR agonist during pregnancy was similar for mothers of children with ASD and mothers of controls (18.9% vs. 14.8%, P = 0.19). Exposure to B2AR agonists other than terbutaline was not associated with an increased risk for ASDs. However, terbutaline exposure for >2 days during the third trimester was associated with more than a fourfold increased risk for ASDs independent of indication although the limited sample size resulted in an imprecise and nonsignificant effect estimate (OR(adj) = 4.4; 95% confidence interval, 0.8-24.6). This analysis does not offer evidence linking B2AR exposure in pregnancy with autism risk. However, exposure to terbutaline during the third trimester for >2 days may be associated with an increased risk of autism. Should this result be confirmed in larger samples, it would point to late pregnancy as an etiologic window of interest in autism risk factor research. En ligne : http://dx.doi.org/10.1007/s11689-011-9093-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Prenatal exposure to beta2-adrenergic receptor agonists and risk of autism spectrum disorders [Texte imprimé et/ou numérique] / Lisa A. CROEN, Auteur ; S. L. CONNORS, Auteur ; M. MATEVIA, Auteur ; Y. QIAN, Auteur ; C. NEWSCHAFFER, Auteur ; Andrew W. ZIMMERMAN, Auteur . - p.307-15. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.307-15 Index. décimale : PER Périodiques Résumé : This study aims to investigate the association between prenatal exposure to terbutaline and other beta2 adrenergic receptor (B2AR) agonists and autism spectrum disorders (ASDs). The methodology used is a case-control study among children born from 1995 to 1999 at Kaiser Permanente Northern California hospitals. Cases (n = 291) were children with an ASD diagnosis; controls (n = 284) were children without ASDs, randomly sampled and frequency-matched to cases on sex, birth year, and delivery hospital. Exposure to B2AR agonists during 30 days prior to conception and each trimester of pregnancy was ascertained from prenatal medical records and health plan databases. The frequency of exposure to any B2AR agonist during pregnancy was similar for mothers of children with ASD and mothers of controls (18.9% vs. 14.8%, P = 0.19). Exposure to B2AR agonists other than terbutaline was not associated with an increased risk for ASDs. However, terbutaline exposure for >2 days during the third trimester was associated with more than a fourfold increased risk for ASDs independent of indication although the limited sample size resulted in an imprecise and nonsignificant effect estimate (OR(adj) = 4.4; 95% confidence interval, 0.8-24.6). This analysis does not offer evidence linking B2AR exposure in pregnancy with autism risk. However, exposure to terbutaline during the third trimester for >2 days may be associated with an increased risk of autism. Should this result be confirmed in larger samples, it would point to late pregnancy as an etiologic window of interest in autism risk factor research. En ligne : http://dx.doi.org/10.1007/s11689-011-9093-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

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

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.316-24 Titre : Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome Type de document : Texte imprimé et/ou numérique Auteurs : C. G. FLORES, Auteur ; G. VALCANTE, Auteur ; S. GUTER, Auteur ; A. ZAYTOUN, Auteur ; E. WRAY, Auteur ; L. BELL, Auteur ; S. JACOB, Auteur ; M. H. LEWIS, Auteur ; D. J. DRISCOLL, Auteur ; Edwin H. Jr COOK, Auteur ; S. J. KIM, Auteur Article en page(s) : p.316-24 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Restricted and repetitive behavior (RRB) is a group of heterogeneous maladaptive behaviors. RRB is one of the key diagnostic features of autism spectrum disorders (ASDs) and also commonly observed in Prader-Willi syndrome (PWS). In this study, we assessed RRB using the Repetitive Behavior Scale-Revised (RBS-R) in two ASD samples (University of Illinois at Chicago [UIC] and University of Florida [UF]) and one PWS sample. We compared the RBS-R item endorsements across three ASD cohorts (UIC, UF and an ASD sample from Lam, The Repetitive Behavior Scale-Revised: independent validation and the effect of subject variables, PhD thesis, 2004), and a PWS sample. We also compared the mean RBS-R subscale/sum scores across the UIC, UF and PWS samples; across the combined ASD (UIC + UF), PWS-deletion and PWS-disomy groups; and across the combined ASD sample, PWS subgroup with a Social Communication Questionnaire (SCQ) score >/=15, and PWS subgroup with a SCQ score <15. Despite the highly heterogeneous nature, the three ASD samples (UIC, UF and Lam's) showed a similar pattern of the RBS-R endorsements, and the mean RBS-R scores were not different between the UIC and UF samples. However, higher RRB was noted in the ASD sample compared with the PWS sample, as well as in the PWS subgroup with a SCQ score >/=15 compared with the PWS subgroup with a SCQ score <15. Study limitations include a small sample size, a wide age range of our participants, and not controlling for potential covariates. A future replication study using a larger sample and further investigation into the genetic bases of overlapping ASD and RRB phenomenology are needed, given the higher RRB in the PWS subgroup with a SCQ score >/=15. En ligne : http://dx.doi.org/10.1007/s11689-011-9094-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome [Texte imprimé et/ou numérique] / C. G. FLORES, Auteur ; G. VALCANTE, Auteur ; S. GUTER, Auteur ; A. ZAYTOUN, Auteur ; E. WRAY, Auteur ; L. BELL, Auteur ; S. JACOB, Auteur ; M. H. LEWIS, Auteur ; D. J. DRISCOLL, Auteur ; Edwin H. Jr COOK, Auteur ; S. J. KIM, Auteur . - p.316-24. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.316-24 Index. décimale : PER Périodiques Résumé : Restricted and repetitive behavior (RRB) is a group of heterogeneous maladaptive behaviors. RRB is one of the key diagnostic features of autism spectrum disorders (ASDs) and also commonly observed in Prader-Willi syndrome (PWS). In this study, we assessed RRB using the Repetitive Behavior Scale-Revised (RBS-R) in two ASD samples (University of Illinois at Chicago [UIC] and University of Florida [UF]) and one PWS sample. We compared the RBS-R item endorsements across three ASD cohorts (UIC, UF and an ASD sample from Lam, The Repetitive Behavior Scale-Revised: independent validation and the effect of subject variables, PhD thesis, 2004), and a PWS sample. We also compared the mean RBS-R subscale/sum scores across the UIC, UF and PWS samples; across the combined ASD (UIC + UF), PWS-deletion and PWS-disomy groups; and across the combined ASD sample, PWS subgroup with a Social Communication Questionnaire (SCQ) score >/=15, and PWS subgroup with a SCQ score <15. Despite the highly heterogeneous nature, the three ASD samples (UIC, UF and Lam's) showed a similar pattern of the RBS-R endorsements, and the mean RBS-R scores were not different between the UIC and UF samples. However, higher RRB was noted in the ASD sample compared with the PWS sample, as well as in the PWS subgroup with a SCQ score >/=15 compared with the PWS subgroup with a SCQ score <15. Study limitations include a small sample size, a wide age range of our participants, and not controlling for potential covariates. A future replication study using a larger sample and further investigation into the genetic bases of overlapping ASD and RRB phenomenology are needed, given the higher RRB in the PWS subgroup with a SCQ score >/=15. En ligne : http://dx.doi.org/10.1007/s11689-011-9094-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

A multimeasure approach to investigating affective appraisal of social information in Williams syndrome / D. PLESA SKWERER in Journal of Neurodevelopmental Disorders, 3-4 (December 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.325-34 Titre : A multimeasure approach to investigating affective appraisal of social information in Williams syndrome Type de document : Texte imprimé et/ou numérique Auteurs : D. PLESA SKWERER, Auteur ; E. AMMERMAN, Auteur ; M. C. ANDRE, Auteur ; L. CICIOLLA, Auteur ; A. B. FINE, Auteur ; Helen TAGER-FLUSBERG, Auteur Article en page(s) : p.325-34 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : People with Williams syndrome (WS) have been consistently described as showing heightened sociability, gregariousness, and interest in people, in conjunction with an uneven cognitive profile and mild to moderate intellectual or learning disability. To explore the mechanisms underlying this unusual social-behavioral phenotype, we investigated whether individuals with WS show an atypical appraisal style and autonomic responsiveness to emotionally laden images with social or nonsocial content. Adolescents and adults with WS were compared to chronological age-matched and nonverbal mental age-matched groups in their responses to positive and negative images with or without social content, using measures of self-selected viewing time (SSVT), autonomic arousal reflected in pupil dilation measures, and likeability ratings. The participants with WS looked significantly longer at the social images compared to images without social content and had reduced arousal to the negative social images compared to the control groups. In contrast to the comparison groups, the explicit ratings of likeability in the WS group did not correlate with their SSVT; instead, they reflected an appraisal style of more extreme ratings. This distinctive pattern of viewing interest, likeability ratings, and autonomic arousal to images with social content in the WS group suggests that their heightened social drive may be related to atypical functioning of reward-related brain systems reflected in SSVT and autonomic reactivity measures, but not in explicit ratings. En ligne : http://dx.doi.org/10.1007/s11689-011-9100-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] A multimeasure approach to investigating affective appraisal of social information in Williams syndrome [Texte imprimé et/ou numérique] / D. PLESA SKWERER, Auteur ; E. AMMERMAN, Auteur ; M. C. ANDRE, Auteur ; L. CICIOLLA, Auteur ; A. B. FINE, Auteur ; Helen TAGER-FLUSBERG, Auteur . - p.325-34. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.325-34 Index. décimale : PER Périodiques Résumé : People with Williams syndrome (WS) have been consistently described as showing heightened sociability, gregariousness, and interest in people, in conjunction with an uneven cognitive profile and mild to moderate intellectual or learning disability. To explore the mechanisms underlying this unusual social-behavioral phenotype, we investigated whether individuals with WS show an atypical appraisal style and autonomic responsiveness to emotionally laden images with social or nonsocial content. Adolescents and adults with WS were compared to chronological age-matched and nonverbal mental age-matched groups in their responses to positive and negative images with or without social content, using measures of self-selected viewing time (SSVT), autonomic arousal reflected in pupil dilation measures, and likeability ratings. The participants with WS looked significantly longer at the social images compared to images without social content and had reduced arousal to the negative social images compared to the control groups. In contrast to the comparison groups, the explicit ratings of likeability in the WS group did not correlate with their SSVT; instead, they reflected an appraisal style of more extreme ratings. This distinctive pattern of viewing interest, likeability ratings, and autonomic arousal to images with social content in the WS group suggests that their heightened social drive may be related to atypical functioning of reward-related brain systems reflected in SSVT and autonomic reactivity measures, but not in explicit ratings. En ligne : http://dx.doi.org/10.1007/s11689-011-9100-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

Contributions of phonological and verbal working memory to language development in adolescents with fragile X syndrome / E. I. PIERPONT in Journal of Neurodevelopmental Disorders, 3-4 (December 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.335-47 Titre : Contributions of phonological and verbal working memory to language development in adolescents with fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : E. I. PIERPONT, Auteur ; E. K. RICHMOND, Auteur ; Leonard ABBEDUTO, Auteur ; S. T. KOVER, Auteur ; W. Ted BROWN, Auteur Article en page(s) : p.335-47 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. Although language delays are frequently observed in FXS, neither the longitudinal course of language development nor its cognitive predictors are well understood. The present study investigated whether phonological and working memory skills are predictive of growth in vocabulary and syntax in individuals with FXS during adolescence. Forty-four individuals with FXS (mean age = 12.61 years) completed assessments of phonological memory (nonword repetition and forward digit recall), verbal working memory (backward digit recall), vocabulary, syntax, and nonverbal cognition. Vocabulary and syntax skills were reassessed at a 2-year follow-up. In a series of analyses that controlled for nonverbal cognitive ability and severity of autism symptoms, the relative contributions of phonological and working memory to language change over time were investigated. These relationships were examined separately for boys and girls. In boys with FXS, phonological memory significantly predicted gains in vocabulary and syntax skills. Further, verbal working memory was uniquely associated with vocabulary gains among boys. In girls with FXS, phonological and working memory skills showed no relationship with language change across the 2-year time period. Our findings indicate that, for adolescent boys with FXS, acquisition of vocabulary and syntax may be constrained by the ability to maintain and manipulate phonological representations online. Implications for the identification and treatment of language disorders in this population are discussed. The present study is the first to identify specific cognitive mechanisms contributing to language growth over time in individuals with FXS. En ligne : http://dx.doi.org/10.1007/s11689-011-9095-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Contributions of phonological and verbal working memory to language development in adolescents with fragile X syndrome [Texte imprimé et/ou numérique] / E. I. PIERPONT, Auteur ; E. K. RICHMOND, Auteur ; Leonard ABBEDUTO, Auteur ; S. T. KOVER, Auteur ; W. Ted BROWN, Auteur . - p.335-47. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.335-47 Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. Although language delays are frequently observed in FXS, neither the longitudinal course of language development nor its cognitive predictors are well understood. The present study investigated whether phonological and working memory skills are predictive of growth in vocabulary and syntax in individuals with FXS during adolescence. Forty-four individuals with FXS (mean age = 12.61 years) completed assessments of phonological memory (nonword repetition and forward digit recall), verbal working memory (backward digit recall), vocabulary, syntax, and nonverbal cognition. Vocabulary and syntax skills were reassessed at a 2-year follow-up. In a series of analyses that controlled for nonverbal cognitive ability and severity of autism symptoms, the relative contributions of phonological and working memory to language change over time were investigated. These relationships were examined separately for boys and girls. In boys with FXS, phonological memory significantly predicted gains in vocabulary and syntax skills. Further, verbal working memory was uniquely associated with vocabulary gains among boys. In girls with FXS, phonological and working memory skills showed no relationship with language change across the 2-year time period. Our findings indicate that, for adolescent boys with FXS, acquisition of vocabulary and syntax may be constrained by the ability to maintain and manipulate phonological representations online. Implications for the identification and treatment of language disorders in this population are discussed. The present study is the first to identify specific cognitive mechanisms contributing to language growth over time in individuals with FXS. En ligne : http://dx.doi.org/10.1007/s11689-011-9095-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

Epigenetic modifications may play a role in the developmental consequences of early life events / F. H. BLOOMFIELD in Journal of Neurodevelopmental Disorders, 3-4 (December 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.348-55 Titre : Epigenetic modifications may play a role in the developmental consequences of early life events Type de document : Texte imprimé et/ou numérique Auteurs : F. H. BLOOMFIELD, Auteur Article en page(s) : p.348-55 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Many aspects of postnatal development are influenced by events before birth, including cognitive and language development. An adverse intrauterine environment, for example secondary to poor maternal nutritional status, multiple pregnancy, or late preterm birth, is associated with increased risks of delayed or impaired childhood development and altered physiology in adulthood that may predispose to increased risk of adult disease. Maternal periconceptional undernutrition and twin conception can both result in late preterm birth, but it is less clear whether cases of late preterm birth not following a recognized early pregnancy event may still have their origin in the periconceptional period. Thus, the very earliest periods of pregnancy, and perhaps even the pre-pregnancy period, may be an important period determining the developmental trajectory of the fetus, and thus both pregnancy and later health outcomes. Profound epigenetic modifications to the genome occur in the early embryo as a normal part of development. Recent evidence suggests that environmental signals acting during early development may also result in epigenetic changes which may play a role in mediating the association between early life exposures and later phenotype. En ligne : http://dx.doi.org/10.1007/s11689-011-9096-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Epigenetic modifications may play a role in the developmental consequences of early life events [Texte imprimé et/ou numérique] / F. H. BLOOMFIELD, Auteur . - p.348-55. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.348-55 Index. décimale : PER Périodiques Résumé : Many aspects of postnatal development are influenced by events before birth, including cognitive and language development. An adverse intrauterine environment, for example secondary to poor maternal nutritional status, multiple pregnancy, or late preterm birth, is associated with increased risks of delayed or impaired childhood development and altered physiology in adulthood that may predispose to increased risk of adult disease. Maternal periconceptional undernutrition and twin conception can both result in late preterm birth, but it is less clear whether cases of late preterm birth not following a recognized early pregnancy event may still have their origin in the periconceptional period. Thus, the very earliest periods of pregnancy, and perhaps even the pre-pregnancy period, may be an important period determining the developmental trajectory of the fetus, and thus both pregnancy and later health outcomes. Profound epigenetic modifications to the genome occur in the early embryo as a normal part of development. Recent evidence suggests that environmental signals acting during early development may also result in epigenetic changes which may play a role in mediating the association between early life exposures and later phenotype. En ligne : http://dx.doi.org/10.1007/s11689-011-9096-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

Approach to epigenetic analysis in language disorders / S. D. SMITH in Journal of Neurodevelopmental Disorders, 3-4 (December 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.356-64 Titre : Approach to epigenetic analysis in language disorders Type de document : Texte imprimé et/ou numérique Auteurs : S. D. SMITH, Auteur Article en page(s) : p.356-64 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Language and learning disorders such as reading disability and language impairment are recognized to be subject to substantial genetic influences, but few causal mutations have been identified in the coding regions of candidate genes. Association analyses of single nucleotide polymorphisms have suggested the involvement of regulatory regions of these genes, and a few mutations affecting gene expression levels have been identified, indicating that the quantity rather than the quality of the gene product may be most relevant for these disorders. In addition, several of the candidate genes appear to be involved in neuronal migration, confirming the importance of early developmental processes. Accordingly, alterations in epigenetic processes such as DNA methylation and histone modification are likely to be important in the causes of language and learning disorders based on their functions in gene regulation. Epigenetic processes direct the differentiation of cells in early development when neurological pathways are set down, and mutations in genes involved in epigenetic regulation are known to cause cognitive disorders in humans. Epigenetic processes also regulate the changes in gene expression in response to learning, and alterations in histone modification are associated with learning and memory deficits in animals. Genetic defects in histone modification have been reversed in animals through therapeutic interventions resulting in rescue of these deficits, making it particularly important to investigate their potential contribution to learning disorders in humans. En ligne : http://dx.doi.org/10.1007/s11689-011-9099-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Approach to epigenetic analysis in language disorders [Texte imprimé et/ou numérique] / S. D. SMITH, Auteur . - p.356-64. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.356-64 Index. décimale : PER Périodiques Résumé : Language and learning disorders such as reading disability and language impairment are recognized to be subject to substantial genetic influences, but few causal mutations have been identified in the coding regions of candidate genes. Association analyses of single nucleotide polymorphisms have suggested the involvement of regulatory regions of these genes, and a few mutations affecting gene expression levels have been identified, indicating that the quantity rather than the quality of the gene product may be most relevant for these disorders. In addition, several of the candidate genes appear to be involved in neuronal migration, confirming the importance of early developmental processes. Accordingly, alterations in epigenetic processes such as DNA methylation and histone modification are likely to be important in the causes of language and learning disorders based on their functions in gene regulation. Epigenetic processes direct the differentiation of cells in early development when neurological pathways are set down, and mutations in genes involved in epigenetic regulation are known to cause cognitive disorders in humans. Epigenetic processes also regulate the changes in gene expression in response to learning, and alterations in histone modification are associated with learning and memory deficits in animals. Genetic defects in histone modification have been reversed in animals through therapeutic interventions resulting in rescue of these deficits, making it particularly important to investigate their potential contribution to learning disorders in humans. En ligne : http://dx.doi.org/10.1007/s11689-011-9099-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

Dissection of genetic associations with language-related traits in population-based cohorts / S. PARACCHINI in Journal of Neurodevelopmental Disorders, 3-4 (December 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.365-73 Titre : Dissection of genetic associations with language-related traits in population-based cohorts Type de document : Texte imprimé et/ou numérique Auteurs : S. PARACCHINI, Auteur Article en page(s) : p.365-73 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Recent advances in the field of language-related disorders have led to the identification of candidate genes for specific language impairment (SLI) and dyslexia. Replication studies have been conducted in independent samples including population-based cohorts, which can be characterised for a large number of relevant cognitive measures. The availability of a wide range of phenotypes allows us to not only identify the most suitable traits for replication of genetic association but also to refine the associated cognitive trait. In addition, it is possible to test for pleiotropic effects across multiple phenotypes which could explain the extensive comorbidity observed across SLI, dyslexia and other neurodevelopmental disorders. The availability of genome-wide genotype data for such cohorts will facilitate this kind of analysis but important issues, such as multiple test corrections, have to be taken into account considering that small effect sizes are expected to underlie such associations. En ligne : http://dx.doi.org/10.1007/s11689-011-9091-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=344 [article] Dissection of genetic associations with language-related traits in population-based cohorts [Texte imprimé et/ou numérique] / S. PARACCHINI, Auteur . - p.365-73. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.365-73 Index. décimale : PER Périodiques Résumé : Recent advances in the field of language-related disorders have led to the identification of candidate genes for specific language impairment (SLI) and dyslexia. Replication studies have been conducted in independent samples including population-based cohorts, which can be characterised for a large number of relevant cognitive measures. The availability of a wide range of phenotypes allows us to not only identify the most suitable traits for replication of genetic association but also to refine the associated cognitive trait. In addition, it is possible to test for pleiotropic effects across multiple phenotypes which could explain the extensive comorbidity observed across SLI, dyslexia and other neurodevelopmental disorders. The availability of genome-wide genotype data for such cohorts will facilitate this kind of analysis but important issues, such as multiple test corrections, have to be taken into account considering that small effect sizes are expected to underlie such associations. En ligne : http://dx.doi.org/10.1007/s11689-011-9091-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=344

Genetic approaches to understanding the causes of stuttering / D. DRAYNA in Journal of Neurodevelopmental Disorders, 3-4 (December 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.374-80 Titre : Genetic approaches to understanding the causes of stuttering Type de document : Texte imprimé et/ou numérique Auteurs : D. DRAYNA, Auteur ; C. KANG, Auteur Article en page(s) : p.374-80 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Stuttering is a common but poorly understood speech disorder. Evidence accumulated over the past several decades has indicated that genetic factors are involved, and genetic linkage studies have begun to identify specific chromosomal loci at which causative genes are likely to reside. A detailed investigation of one such region on chromosome 12 has identified mutations in the GNPTAB gene that are associated with stuttering in large families and in the general population. Subsequent studies identified mutations in the functionally related GNPTG and NAGPA genes. Mutations in these genes disrupt the lysosomal targeting pathway that generates the Mannose 6-phosphate signal, which directs a diverse group of enzymes to their target location in the lysosome of the cell. While mutations in these three genes can be identified in less than 10% of cases of familial stuttering, this knowledge allows a variety of new studies that can help identify the neuropathology that underlies this disorder. En ligne : http://dx.doi.org/10.1007/s11689-011-9090-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=344 [article] Genetic approaches to understanding the causes of stuttering [Texte imprimé et/ou numérique] / D. DRAYNA, Auteur ; C. KANG, Auteur . - p.374-80. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.374-80 Index. décimale : PER Périodiques Résumé : Stuttering is a common but poorly understood speech disorder. Evidence accumulated over the past several decades has indicated that genetic factors are involved, and genetic linkage studies have begun to identify specific chromosomal loci at which causative genes are likely to reside. A detailed investigation of one such region on chromosome 12 has identified mutations in the GNPTAB gene that are associated with stuttering in large families and in the general population. Subsequent studies identified mutations in the functionally related GNPTG and NAGPA genes. Mutations in these genes disrupt the lysosomal targeting pathway that generates the Mannose 6-phosphate signal, which directs a diverse group of enzymes to their target location in the lysosome of the cell. While mutations in these three genes can be identified in less than 10% of cases of familial stuttering, this knowledge allows a variety of new studies that can help identify the neuropathology that underlies this disorder. En ligne : http://dx.doi.org/10.1007/s11689-011-9090-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=344

Genetics and language: a neurobiological perspective on the missing link (-ing hypotheses) / D. POEPPEL in Journal of Neurodevelopmental Disorders, 3-4 (December 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.381-7 Titre : Genetics and language: a neurobiological perspective on the missing link (-ing hypotheses) Type de document : Texte imprimé et/ou numérique Auteurs : D. POEPPEL, Auteur Article en page(s) : p.381-7 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The paper argues that both evolutionary and genetic approaches to studying the biological foundations of speech and language could benefit from fractionating the problem at a finer grain, aiming not to map genetics to "language"-or even subdomains of language such as "phonology" or "syntax"-but rather to link genetic results to component formal operations that underlie processing the comprehension and production of linguistic representations. Neuroanatomic and neurophysiological research suggests that language processing is broken down in space (distributed functional anatomy along concurrent pathways) and time (concurrent processing on multiple time scales). These parallel neuronal pathways and their local circuits form the infrastructure of speech and language and are the actual targets of evolution/genetics. Therefore, investigating the mapping from gene to brain circuit to linguistic phenotype at the level of generic computational operations (subroutines actually executable in these circuits) stands to provide a new perspective on the biological foundations in the healthy and challenged brain. En ligne : http://dx.doi.org/10.1007/s11689-011-9097-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=344 [article] Genetics and language: a neurobiological perspective on the missing link (-ing hypotheses) [Texte imprimé et/ou numérique] / D. POEPPEL, Auteur . - p.381-7. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.381-7 Index. décimale : PER Périodiques Résumé : The paper argues that both evolutionary and genetic approaches to studying the biological foundations of speech and language could benefit from fractionating the problem at a finer grain, aiming not to map genetics to "language"-or even subdomains of language such as "phonology" or "syntax"-but rather to link genetic results to component formal operations that underlie processing the comprehension and production of linguistic representations. Neuroanatomic and neurophysiological research suggests that language processing is broken down in space (distributed functional anatomy along concurrent pathways) and time (concurrent processing on multiple time scales). These parallel neuronal pathways and their local circuits form the infrastructure of speech and language and are the actual targets of evolution/genetics. Therefore, investigating the mapping from gene to brain circuit to linguistic phenotype at the level of generic computational operations (subroutines actually executable in these circuits) stands to provide a new perspective on the biological foundations in the healthy and challenged brain. En ligne : http://dx.doi.org/10.1007/s11689-011-9097-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=344

Language development after cochlear implantation: an epigenetic model / T. M. MARKMAN in Journal of Neurodevelopmental Disorders, 3-4 (December 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.388-404 Titre : Language development after cochlear implantation: an epigenetic model Type de document : Texte imprimé et/ou numérique Auteurs : T. M. MARKMAN, Auteur ; A. L. QUITTNER, Auteur ; L. S. EISENBERG, Auteur ; E. A. TOBEY, Auteur ; D. THAL, Auteur ; J. K. NIPARKO, Auteur ; N. Y. WANG, Auteur Article en page(s) : p.388-404 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Growing evidence supports the notion that dynamic gene expression, subject to epigenetic control, organizes multiple influences to enable a child to learn to listen and to talk. Here, we review neurobiological and genetic influences on spoken language development in the context of results of a longitudinal trial of cochlear implantation of young children with severe to profound sensorineural hearing loss in the Childhood Development after Cochlear Implantation study. We specifically examine the results of cochlear implantation in participants who were congenitally deaf (N = 116). Prior to intervention, these participants were subject to naturally imposed constraints in sensory (acoustic-phonologic) inputs during critical phases of development when spoken language skills are typically achieved rapidly. Their candidacy for a cochlear implant was prompted by delays (n = 20) or an essential absence of spoken language acquisition (n = 96). Observations thus present an opportunity to evaluate the impact of factors that influence the emergence of spoken language, particularly in the context of hearing restoration in sensitive periods for language acquisition. Outcomes demonstrate considerable variation in spoken language learning, although significant advantages exist for the congenitally deaf children implanted prior to 18 months of age. While age at implantation carries high predictive value in forecasting performance on measures of spoken language, several factors show significant association, particularly those related to parent-child interactions. Importantly, the significance of environmental variables in their predictive value for language development varies with age at implantation. These observations are considered in the context of an epigenetic model in which dynamic genomic expression can modulate aspects of auditory learning, offering insights into factors that can influence a child's acquisition of spoken language after cochlear implantation. Increased understanding of these interactions could lead to targeted interventions that interact with the epigenome to influence language outcomes with intervention, particularly in periods in which development is subject to time-sensitive experience. En ligne : http://dx.doi.org/10.1007/s11689-011-9098-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=344 [article] Language development after cochlear implantation: an epigenetic model [Texte imprimé et/ou numérique] / T. M. MARKMAN, Auteur ; A. L. QUITTNER, Auteur ; L. S. EISENBERG, Auteur ; E. A. TOBEY, Auteur ; D. THAL, Auteur ; J. K. NIPARKO, Auteur ; N. Y. WANG, Auteur . - p.388-404. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.388-404 Index. décimale : PER Périodiques Résumé : Growing evidence supports the notion that dynamic gene expression, subject to epigenetic control, organizes multiple influences to enable a child to learn to listen and to talk. Here, we review neurobiological and genetic influences on spoken language development in the context of results of a longitudinal trial of cochlear implantation of young children with severe to profound sensorineural hearing loss in the Childhood Development after Cochlear Implantation study. We specifically examine the results of cochlear implantation in participants who were congenitally deaf (N = 116). Prior to intervention, these participants were subject to naturally imposed constraints in sensory (acoustic-phonologic) inputs during critical phases of development when spoken language skills are typically achieved rapidly. Their candidacy for a cochlear implant was prompted by delays (n = 20) or an essential absence of spoken language acquisition (n = 96). Observations thus present an opportunity to evaluate the impact of factors that influence the emergence of spoken language, particularly in the context of hearing restoration in sensitive periods for language acquisition. Outcomes demonstrate considerable variation in spoken language learning, although significant advantages exist for the congenitally deaf children implanted prior to 18 months of age. While age at implantation carries high predictive value in forecasting performance on measures of spoken language, several factors show significant association, particularly those related to parent-child interactions. Importantly, the significance of environmental variables in their predictive value for language development varies with age at implantation. These observations are considered in the context of an epigenetic model in which dynamic genomic expression can modulate aspects of auditory learning, offering insights into factors that can influence a child's acquisition of spoken language after cochlear implantation. Increased understanding of these interactions could lead to targeted interventions that interact with the epigenome to influence language outcomes with intervention, particularly in periods in which development is subject to time-sensitive experience. En ligne : http://dx.doi.org/10.1007/s11689-011-9098-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=344