Dépouillements

Cover essay / F. MONROE in Journal of Neurodevelopmental Disorders, 2-1 (March 2010)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 2-1 (March 2010) . - p.1 Titre : Cover essay Type de document : Texte imprimé et/ou numérique Auteurs : F. MONROE, Auteur Article en page(s) : p.1 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s11689-010-9042-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342 [article] Cover essay [Texte imprimé et/ou numérique] / F. MONROE, Auteur . - p.1. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 2-1 (March 2010) . - p.1 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s11689-010-9042-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342

Event-based prospective memory performance in autism spectrum disorder / Mareike ALTGASSEN in Journal of Neurodevelopmental Disorders, 2-1 (March 2010)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 2-1 (March 2010) . - p.2-8 Titre : Event-based prospective memory performance in autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Mareike ALTGASSEN, Auteur ; M. SCHMITZ-HUBSCH, Auteur ; M. KLIEGEL, Auteur Article en page(s) : p.2-8 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The purpose of the present study was to investigate event-based prospective memory performance in individuals with autism spectrum disorder and to explore possible relations between laboratory-based prospective memory performance and everyday performance. Nineteen children and adolescents with autism spectrum disorder and 19 matched neurotypical controls participated. The laboratory-based prospective memory test was embedded in a visuo-spatial working memory test and required participants to remember to respond to a cue-event. Everyday planning performance was assessed with proxy ratings. Although parents of the autism group rated their children's everyday performance as significantly poorer than controls' parents, no group differences were found in event-based prospective memory. Nevertheless, individual differences in laboratory-based and everyday performances were related. Clinical implications of these findings are discussed. En ligne : http://dx.doi.org/10.1007/s11689-009-9030-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342 [article] Event-based prospective memory performance in autism spectrum disorder [Texte imprimé et/ou numérique] / Mareike ALTGASSEN, Auteur ; M. SCHMITZ-HUBSCH, Auteur ; M. KLIEGEL, Auteur . - p.2-8. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 2-1 (March 2010) . - p.2-8 Index. décimale : PER Périodiques Résumé : The purpose of the present study was to investigate event-based prospective memory performance in individuals with autism spectrum disorder and to explore possible relations between laboratory-based prospective memory performance and everyday performance. Nineteen children and adolescents with autism spectrum disorder and 19 matched neurotypical controls participated. The laboratory-based prospective memory test was embedded in a visuo-spatial working memory test and required participants to remember to respond to a cue-event. Everyday planning performance was assessed with proxy ratings. Although parents of the autism group rated their children's everyday performance as significantly poorer than controls' parents, no group differences were found in event-based prospective memory. Nevertheless, individual differences in laboratory-based and everyday performances were related. Clinical implications of these findings are discussed. En ligne : http://dx.doi.org/10.1007/s11689-009-9030-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342

Verbal short-term memory deficits in Down syndrome: phonological, semantic, or both? / N. RAITANO LEE in Journal of Neurodevelopmental Disorders, 2-1 (March 2010)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 2-1 (March 2010) . - p.9-25 Titre : Verbal short-term memory deficits in Down syndrome: phonological, semantic, or both? Type de document : Texte imprimé et/ou numérique Auteurs : N. RAITANO LEE, Auteur ; B. F. PENNINGTON, Auteur ; J. M. KEENAN, Auteur Article en page(s) : p.9-25 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The current study examined the phonological and semantic contributions to the verbal short-term memory (VSTM) deficit in Down syndrome (DS) by experimentally manipulating the phonological and semantic demands of VSTM tasks. The performance of 18 individuals with DS (ages 11-25) and 18 typically developing children (ages 3-10) matched pairwise on receptive vocabulary and gender was compared on four VSTM tasks, two tapping phonological VSTM (phonological similarity, nonword discrimination) and two tapping semantic VSTM (semantic category, semantic proactive interference). Group by condition interactions were found on the two phonological VSTM tasks (suggesting less sensitivity to the phonological qualities of words in DS), but not on the two semantic VSTM tasks. These findings suggest that a phonological weakness contributes to the VSTM deficit in DS. These results are discussed in relation to the DS neuropsychological and neuroanatomical phenotype. En ligne : http://dx.doi.org/10.1007/s11689-009-9029-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342 [article] Verbal short-term memory deficits in Down syndrome: phonological, semantic, or both? [Texte imprimé et/ou numérique] / N. RAITANO LEE, Auteur ; B. F. PENNINGTON, Auteur ; J. M. KEENAN, Auteur . - p.9-25. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 2-1 (March 2010) . - p.9-25 Index. décimale : PER Périodiques Résumé : The current study examined the phonological and semantic contributions to the verbal short-term memory (VSTM) deficit in Down syndrome (DS) by experimentally manipulating the phonological and semantic demands of VSTM tasks. The performance of 18 individuals with DS (ages 11-25) and 18 typically developing children (ages 3-10) matched pairwise on receptive vocabulary and gender was compared on four VSTM tasks, two tapping phonological VSTM (phonological similarity, nonword discrimination) and two tapping semantic VSTM (semantic category, semantic proactive interference). Group by condition interactions were found on the two phonological VSTM tasks (suggesting less sensitivity to the phonological qualities of words in DS), but not on the two semantic VSTM tasks. These findings suggest that a phonological weakness contributes to the VSTM deficit in DS. These results are discussed in relation to the DS neuropsychological and neuroanatomical phenotype. En ligne : http://dx.doi.org/10.1007/s11689-009-9029-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications / J. A. ROSENFELD in Journal of Neurodevelopmental Disorders, 2-1 (March 2010)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 2-1 (March 2010) . - p.26-38 Titre : Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications Type de document : Texte imprimé et/ou numérique Auteurs : J. A. ROSENFELD, Auteur ; J. COPPINGER, Auteur ; B. A. BEJJANI, Auteur ; S. GIRIRAJAN, Auteur ; E. E. EICHLER, Auteur ; L. G. SHAFFER, Auteur ; B. C. BALLIF, Auteur Article en page(s) : p.26-38 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Microdeletions and microduplications encompassing a ~593-kb region of 16p11.2 have been implicated as one of the most common genetic causes of susceptibility to autism/autism spectrum disorder (ASD). We report 45 microdeletions and 32 microduplications of 16p11.2, representing 0.78% of 9,773 individuals referred to our laboratory for microarray-based comparative genomic hybridization (aCGH) testing for neurodevelopmental and congenital anomalies. The microdeletion was de novo in 17 individuals and maternally inherited in five individuals for whom parental testing was available. Detailed histories of 18 individuals with 16p11.2 microdeletions were reviewed; all had developmental delays with below-average intelligence, and a majority had speech or language problems or delays and various behavioral problems. Of the 16 individuals old enough to be evaluated for autism, the speech/behavior profiles of seven did not suggest the need for ASD evaluation. Of the remaining nine individuals who had speech/behavior profiles that aroused clinical suspicion of ASD, five had formal evaluations, and three had PDD-NOS. Of the 19 microduplications with parental testing, five were de novo, nine were maternally inherited, and five were paternally inherited. A majority with the microduplication had delayed development and/or specific deficits in speech or language, though these features were not as consistent as seen with the microdeletions. This study, which is the largest cohort of individuals with 16p11.2 alterations reported to date, suggests that 16p11.2 microdeletions and microduplications are associated with a high frequency of cognitive, developmental, and speech delay and behavior abnormalities. Furthermore, although features associated with these alterations can be found in individuals with ASD, additional factors are likely required to lead to the development of ASD. En ligne : http://dx.doi.org/10.1007/s11689-009-9037-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342 [article] Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications [Texte imprimé et/ou numérique] / J. A. ROSENFELD, Auteur ; J. COPPINGER, Auteur ; B. A. BEJJANI, Auteur ; S. GIRIRAJAN, Auteur ; E. E. EICHLER, Auteur ; L. G. SHAFFER, Auteur ; B. C. BALLIF, Auteur . - p.26-38. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 2-1 (March 2010) . - p.26-38 Index. décimale : PER Périodiques Résumé : Microdeletions and microduplications encompassing a ~593-kb region of 16p11.2 have been implicated as one of the most common genetic causes of susceptibility to autism/autism spectrum disorder (ASD). We report 45 microdeletions and 32 microduplications of 16p11.2, representing 0.78% of 9,773 individuals referred to our laboratory for microarray-based comparative genomic hybridization (aCGH) testing for neurodevelopmental and congenital anomalies. The microdeletion was de novo in 17 individuals and maternally inherited in five individuals for whom parental testing was available. Detailed histories of 18 individuals with 16p11.2 microdeletions were reviewed; all had developmental delays with below-average intelligence, and a majority had speech or language problems or delays and various behavioral problems. Of the 16 individuals old enough to be evaluated for autism, the speech/behavior profiles of seven did not suggest the need for ASD evaluation. Of the remaining nine individuals who had speech/behavior profiles that aroused clinical suspicion of ASD, five had formal evaluations, and three had PDD-NOS. Of the 19 microduplications with parental testing, five were de novo, nine were maternally inherited, and five were paternally inherited. A majority with the microduplication had delayed development and/or specific deficits in speech or language, though these features were not as consistent as seen with the microdeletions. This study, which is the largest cohort of individuals with 16p11.2 alterations reported to date, suggests that 16p11.2 microdeletions and microduplications are associated with a high frequency of cognitive, developmental, and speech delay and behavior abnormalities. Furthermore, although features associated with these alterations can be found in individuals with ASD, additional factors are likely required to lead to the development of ASD. En ligne : http://dx.doi.org/10.1007/s11689-009-9037-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342

Infant head growth in male siblings of children with and without autism spectrum disorders / John N. CONSTANTINO in Journal of Neurodevelopmental Disorders, 2-1 (March 2010)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 2-1 (March 2010) . - p.39-46 Titre : Infant head growth in male siblings of children with and without autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : John N. CONSTANTINO, Auteur ; P. MAJMUDAR, Auteur ; A. BOTTINI, Auteur ; M. ARVIN, Auteur ; Y. VIRKUD, Auteur ; P. SIMONS, Auteur ; E. SPITZNAGEL, Auteur Article en page(s) : p.39-46 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : PURPOSE: Previous research has indicated that children with autism exhibit accelerated head growth (HG) in infancy, although the timing of acceleration varies between studies. We examined infant HG trajectory as a candidate autism endophenotype by studying sibling pairs. METHODS: We retrospectively obtained serial head orbitofrontal circumference measurements of: a) 48 sibling pairs in which one (n=28) or both (n=20) sibs were affected by an autism spectrum disorder (ASD); and b) 85 control male sibling pairs. RESULTS: Rate of HG of ASD subjects was slightly accelerated compared to controls, but the magnitude of difference was below the limit of reliability of standard measurement methods. Sibling intra class correlation for rate of HG was highly statistically significant; the magnitude was significantly stronger among autism-affected families (ICC=.63) than among controls (ICC=.26), p<.01. CONCLUSION: Infant HG trajectory appears familial-possibly endophenotypic-but was not a reliable marker of autism risk among siblings of ASD probands in this sample. En ligne : http://dx.doi.org/10.1007/s11689-009-9036-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342 [article] Infant head growth in male siblings of children with and without autism spectrum disorders [Texte imprimé et/ou numérique] / John N. CONSTANTINO, Auteur ; P. MAJMUDAR, Auteur ; A. BOTTINI, Auteur ; M. ARVIN, Auteur ; Y. VIRKUD, Auteur ; P. SIMONS, Auteur ; E. SPITZNAGEL, Auteur . - p.39-46. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 2-1 (March 2010) . - p.39-46 Index. décimale : PER Périodiques Résumé : PURPOSE: Previous research has indicated that children with autism exhibit accelerated head growth (HG) in infancy, although the timing of acceleration varies between studies. We examined infant HG trajectory as a candidate autism endophenotype by studying sibling pairs. METHODS: We retrospectively obtained serial head orbitofrontal circumference measurements of: a) 48 sibling pairs in which one (n=28) or both (n=20) sibs were affected by an autism spectrum disorder (ASD); and b) 85 control male sibling pairs. RESULTS: Rate of HG of ASD subjects was slightly accelerated compared to controls, but the magnitude of difference was below the limit of reliability of standard measurement methods. Sibling intra class correlation for rate of HG was highly statistically significant; the magnitude was significantly stronger among autism-affected families (ICC=.63) than among controls (ICC=.26), p<.01. CONCLUSION: Infant HG trajectory appears familial-possibly endophenotypic-but was not a reliable marker of autism risk among siblings of ASD probands in this sample. En ligne : http://dx.doi.org/10.1007/s11689-009-9036-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342

Erratum to: Role for TGF-beta superfamily signaling in telencephalic GABAergic neuron development / M. MAIRA in Journal of Neurodevelopmental Disorders, 2-1 (March 2010)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 2-1 (March 2010) . - p.47 Titre : Erratum to: Role for TGF-beta superfamily signaling in telencephalic GABAergic neuron development Type de document : Texte imprimé et/ou numérique Auteurs : M. MAIRA, Auteur ; J. E. LONG, Auteur ; A. Y. LEE, Auteur ; J. L. RUBENSTEIN, Auteur ; S. STIFANI, Auteur Article en page(s) : p.47 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s11689-009-9040-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342 [article] Erratum to: Role for TGF-beta superfamily signaling in telencephalic GABAergic neuron development [Texte imprimé et/ou numérique] / M. MAIRA, Auteur ; J. E. LONG, Auteur ; A. Y. LEE, Auteur ; J. L. RUBENSTEIN, Auteur ; S. STIFANI, Auteur . - p.47. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 2-1 (March 2010) . - p.47 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s11689-009-9040-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342

Role for TGF-beta superfamily signaling in telencephalic GABAergic neuron development / M. MAIRA in Journal of Neurodevelopmental Disorders, 2-1 (March 2010)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 2-1 (March 2010) . - p.48-60 Titre : Role for TGF-beta superfamily signaling in telencephalic GABAergic neuron development Type de document : Texte imprimé et/ou numérique Auteurs : M. MAIRA, Auteur ; J. E. LONG, Auteur ; A. Y. LEE, Auteur ; J. L. RUBENSTEIN, Auteur ; S. STIFANI, Auteur Article en page(s) : p.48-60 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Signaling mechanisms mediated by the Transforming Growth Factor-beta (TGF-beta) superfamily regulate a variety of developmental processes. Here we show that components of both bone morphogenetic protein/growth differentiation factor and TGF-beta/activin/Nodal branches of TGF-beta superfamily signaling are expressed in the developing subpallium. Furthermore, Smad proteins, transcriptional effectors of TGF-beta signaling, are co-expressed and physically interact in the basal ganglia with Dlx homeodomain transcription factors, which are critical regulators of the differentiation, migration and survival of telencephalic GABAergic neurons. We also show that Dlx and Smad proteins localize to promoters/enhancers of a number of common telencephalic genes in vivo and that Smad proteins co-activate transcription with Dlx family members, except with certain mutated human DLX proteins identified in autistic individuals. In agreement with these observations, expression of dominant-negative Smads in the developing basal ganglia phenocopies the cell migration defects observed in Dlx1/2-deficient mice. Together, these results suggest that TGF-beta superfamily signaling plays a role in telencephalic GABAergic neuron development through functional interactions with Dlx transcription factors. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s11689-009-9035-6) contains supplementary material, which is available to authorized users. En ligne : http://dx.doi.org/10.1007/s11689-009-9035-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342 [article] Role for TGF-beta superfamily signaling in telencephalic GABAergic neuron development [Texte imprimé et/ou numérique] / M. MAIRA, Auteur ; J. E. LONG, Auteur ; A. Y. LEE, Auteur ; J. L. RUBENSTEIN, Auteur ; S. STIFANI, Auteur . - p.48-60. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 2-1 (March 2010) . - p.48-60 Index. décimale : PER Périodiques Résumé : Signaling mechanisms mediated by the Transforming Growth Factor-beta (TGF-beta) superfamily regulate a variety of developmental processes. Here we show that components of both bone morphogenetic protein/growth differentiation factor and TGF-beta/activin/Nodal branches of TGF-beta superfamily signaling are expressed in the developing subpallium. Furthermore, Smad proteins, transcriptional effectors of TGF-beta signaling, are co-expressed and physically interact in the basal ganglia with Dlx homeodomain transcription factors, which are critical regulators of the differentiation, migration and survival of telencephalic GABAergic neurons. We also show that Dlx and Smad proteins localize to promoters/enhancers of a number of common telencephalic genes in vivo and that Smad proteins co-activate transcription with Dlx family members, except with certain mutated human DLX proteins identified in autistic individuals. In agreement with these observations, expression of dominant-negative Smads in the developing basal ganglia phenocopies the cell migration defects observed in Dlx1/2-deficient mice. Together, these results suggest that TGF-beta superfamily signaling plays a role in telencephalic GABAergic neuron development through functional interactions with Dlx transcription factors. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s11689-009-9035-6) contains supplementary material, which is available to authorized users. En ligne : http://dx.doi.org/10.1007/s11689-009-9035-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342