Advancing paternal age and simplex autism / Connor M. PULEO in Autism, 16-4 (July 2012)  

Public ISBD [article]  inAutism > 16-4 (July 2012) . - p.367-380 Titre : Advancing paternal age and simplex autism Type de document : Texte imprimé et/ou numérique Auteurs : Connor M. PULEO, Auteur ; James SCHMEIDLER, Auteur ; Abraham REICHENBERG, Auteur ; Alexander KOLEVZON, Auteur ; Latha V. SOORYA, Auteur ; Joseph D. BUXBAUM, Auteur Année de publication : 2012 Article en page(s) : p.367-380 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  de novo  multiplex  paternal age  sex differences  simplex Index. décimale : PER Périodiques Résumé : De novo events appear more common in female and simplex autism spectrum disorder (ASD) cases and may underlie greater ASD risk in older fathers’ offspring. This study examined whether advancing paternal age predicts an increase in simplex (n = 90) versus multiplex ASD cases (n = 587) in 677 participants (340 families). Whether or not controlling for maternal age, results support a significant interaction of linear paternal age and sex of the child on simplex family type. Female ASD cases were significantly more likely to be simplex as paternal age increased, but the increase for males was not significant. Findings suggest that ASD arising from non-familial, de novo events may be far less prominent in males than in females, even if more prevalent in males, due to the substantially larger number of male cases attributable to other, more strongly male-biased risk factors. En ligne : http://dx.doi.org/10.1177/1362361311427154 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178 [article] Advancing paternal age and simplex autism [Texte imprimé et/ou numérique] / Connor M. PULEO, Auteur ; James SCHMEIDLER, Auteur ; Abraham REICHENBERG, Auteur ; Alexander KOLEVZON, Auteur ; Latha V. SOORYA, Auteur ; Joseph D. BUXBAUM, Auteur . - 2012 . - p.367-380. Langues : Anglais (eng) in Autism > 16-4 (July 2012) . - p.367-380 Mots-clés : autism spectrum disorder  de novo  multiplex  paternal age  sex differences  simplex Index. décimale : PER Périodiques Résumé : De novo events appear more common in female and simplex autism spectrum disorder (ASD) cases and may underlie greater ASD risk in older fathers’ offspring. This study examined whether advancing paternal age predicts an increase in simplex (n = 90) versus multiplex ASD cases (n = 587) in 677 participants (340 families). Whether or not controlling for maternal age, results support a significant interaction of linear paternal age and sex of the child on simplex family type. Female ASD cases were significantly more likely to be simplex as paternal age increased, but the increase for males was not significant. Findings suggest that ASD arising from non-familial, de novo events may be far less prominent in males than in females, even if more prevalent in males, due to the substantially larger number of male cases attributable to other, more strongly male-biased risk factors. En ligne : http://dx.doi.org/10.1177/1362361311427154 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178

Age-related changes of gene expression in the neocortex: Preliminary data on RNA-Seq of the transcriptome in three functionally distinct cortical areas / Oksana Yu NAUMOVA in Development and Psychopathology, 24-4 (November 2012)  

Public ISBD [article]  inDevelopment and Psychopathology > 24-4 (November 2012) . - p.1427-1442 Titre : Age-related changes of gene expression in the neocortex: Preliminary data on RNA-Seq of the transcriptome in three functionally distinct cortical areas Type de document : Texte imprimé et/ou numérique Auteurs : Oksana Yu NAUMOVA, Auteur ; Dean PALEJEV, Auteur ; Natalia V. VLASOVA, Auteur ; Maria LEE, Auteur ; Sergei Yu RYCHKOV, Auteur ; Olga N. BABICH, Auteur ; Flora M. VACCARINO, Auteur ; Elena L. GRIGORENKO, Auteur Année de publication : 2012 Article en page(s) : p.1427-1442 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The study of gene expression (i.e., the study of the transcriptome) in different cells and tissues allows us to understand the molecular mechanisms of their differentiation, development and functioning. In this article, we describe some studies of gene-expression profiling for the purposes of understanding developmental (age-related) changes in the brain using different technologies (e.g., DNA-Microarray) and the new and increasingly popular RNA-Seq. We focus on advancements in studies of gene expression in the human brain, which have provided data on the structure and age-related variability of the transcriptome in the brain. We present data on RNA-Seq of the transcriptome in three distinct areas of the neocortex from different ages: mature and elderly individuals. We report that most age-related transcriptional changes affect cellular signaling systems, and, as a result, the transmission of nerve impulses. In general, the results demonstrate the high potential of RNA-Seq for the study of distinctive features of gene expression among cortical areas and the changes in expression through normal and atypical development of the central nervous system. En ligne : http://dx.doi.org/10.1017/S0954579412000818 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=182 [article] Age-related changes of gene expression in the neocortex: Preliminary data on RNA-Seq of the transcriptome in three functionally distinct cortical areas [Texte imprimé et/ou numérique] / Oksana Yu NAUMOVA, Auteur ; Dean PALEJEV, Auteur ; Natalia V. VLASOVA, Auteur ; Maria LEE, Auteur ; Sergei Yu RYCHKOV, Auteur ; Olga N. BABICH, Auteur ; Flora M. VACCARINO, Auteur ; Elena L. GRIGORENKO, Auteur . - 2012 . - p.1427-1442. Langues : Anglais (eng) in Development and Psychopathology > 24-4 (November 2012) . - p.1427-1442 Index. décimale : PER Périodiques Résumé : The study of gene expression (i.e., the study of the transcriptome) in different cells and tissues allows us to understand the molecular mechanisms of their differentiation, development and functioning. In this article, we describe some studies of gene-expression profiling for the purposes of understanding developmental (age-related) changes in the brain using different technologies (e.g., DNA-Microarray) and the new and increasingly popular RNA-Seq. We focus on advancements in studies of gene expression in the human brain, which have provided data on the structure and age-related variability of the transcriptome in the brain. We present data on RNA-Seq of the transcriptome in three distinct areas of the neocortex from different ages: mature and elderly individuals. We report that most age-related transcriptional changes affect cellular signaling systems, and, as a result, the transmission of nerve impulses. In general, the results demonstrate the high potential of RNA-Seq for the study of distinctive features of gene expression among cortical areas and the changes in expression through normal and atypical development of the central nervous system. En ligne : http://dx.doi.org/10.1017/S0954579412000818 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=182

Allelic Variation Within the Putative Autism Spectrum Disorder Risk Gene Homeobox A1 and Cerebellar Maturation in Typically Developing Children and Adolescents / Armin RAZNAHAN in Autism Research, 5-2 (April 2012)  

Public ISBD [article]  inAutism Research > 5-2 (April 2012) . - p.93-100 Titre : Allelic Variation Within the Putative Autism Spectrum Disorder Risk Gene Homeobox A1 and Cerebellar Maturation in Typically Developing Children and Adolescents Type de document : Texte imprimé et/ou numérique Auteurs : Armin RAZNAHAN, Auteur ; Yohan LEE, Auteur ; Catherine VAITUZIS, Auteur ; Lan TRAN, Auteur ; Susan MACKIE, Auteur ; Henning TIEMEIER, Auteur ; Liv S. CLASEN, Auteur ; Francois LALONDE, Auteur ; Deanna GREENSTEIN, Auteur ; Ron PIERSON, Auteur ; Jay N. GIEDD, Auteur Année de publication : 2012 Article en page(s) : p.93-100 Langues : Anglais (eng) Mots-clés : autism  HOXA1  cerebellum  gene  brain  MRI Index. décimale : PER Périodiques Résumé : Homeobox A1 (HOXA1) has been proposed as a candidate gene for autism spectrum disorder (ASD) as it regulates embryological patterning of hind-brain structures implicated in autism neurobiology. In line with this notion, a nonsynonymous single nucleotide polymorphism within a highly conserved domain of HOXA1—A218G (rs10951154)—has been linked to both ASD risk, and cross-sectional differences in superior posterior lobar cerebellar anatomy in late adulthood. Despite evidence for early onset and developmentally dynamic cerebellar involvement in ASD, little is known of the relationship between A218G genotype and maturation of the cerebellum over early development. We addressed this issue using 296 longitudinally acquired structural magnetic resonance imaging brain scans from 116 healthy individuals between 5 and 23 years of age. Mixed models were used to compare the relationship between age and semi-automated measures of cerebellar volume in A-homozygotes (AA) and carriers of the G allele (Gcar). Total cerebellar volume increased between ages of 5 and 23 years in both groups. However, this was accelerated in the Gcar relative to the AA group (Genotype-by-age interaction term, P = 0.03), and driven by genotype-dependent differences in the rate of bilateral superior posterior lobar volume change with age (P = 0.002). Resultantly, although superior posterior lobar volume did not differ significantly between genotype groups at age 5 (P = 0.9), by age 23 it was 12% greater in Gcar than AA (P = 0.002). Our results suggest that common genetic variation within this putative ASD risk gene has the capacity to modify the development of cerebellar systems implicated in ASD neurobiology. En ligne : http://dx.doi.org/10.1002/aur.238 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155 [article] Allelic Variation Within the Putative Autism Spectrum Disorder Risk Gene Homeobox A1 and Cerebellar Maturation in Typically Developing Children and Adolescents [Texte imprimé et/ou numérique] / Armin RAZNAHAN, Auteur ; Yohan LEE, Auteur ; Catherine VAITUZIS, Auteur ; Lan TRAN, Auteur ; Susan MACKIE, Auteur ; Henning TIEMEIER, Auteur ; Liv S. CLASEN, Auteur ; Francois LALONDE, Auteur ; Deanna GREENSTEIN, Auteur ; Ron PIERSON, Auteur ; Jay N. GIEDD, Auteur . - 2012 . - p.93-100. Langues : Anglais (eng) in Autism Research > 5-2 (April 2012) . - p.93-100 Mots-clés : autism  HOXA1  cerebellum  gene  brain  MRI Index. décimale : PER Périodiques Résumé : Homeobox A1 (HOXA1) has been proposed as a candidate gene for autism spectrum disorder (ASD) as it regulates embryological patterning of hind-brain structures implicated in autism neurobiology. In line with this notion, a nonsynonymous single nucleotide polymorphism within a highly conserved domain of HOXA1—A218G (rs10951154)—has been linked to both ASD risk, and cross-sectional differences in superior posterior lobar cerebellar anatomy in late adulthood. Despite evidence for early onset and developmentally dynamic cerebellar involvement in ASD, little is known of the relationship between A218G genotype and maturation of the cerebellum over early development. We addressed this issue using 296 longitudinally acquired structural magnetic resonance imaging brain scans from 116 healthy individuals between 5 and 23 years of age. Mixed models were used to compare the relationship between age and semi-automated measures of cerebellar volume in A-homozygotes (AA) and carriers of the G allele (Gcar). Total cerebellar volume increased between ages of 5 and 23 years in both groups. However, this was accelerated in the Gcar relative to the AA group (Genotype-by-age interaction term, P = 0.03), and driven by genotype-dependent differences in the rate of bilateral superior posterior lobar volume change with age (P = 0.002). Resultantly, although superior posterior lobar volume did not differ significantly between genotype groups at age 5 (P = 0.9), by age 23 it was 12% greater in Gcar than AA (P = 0.002). Our results suggest that common genetic variation within this putative ASD risk gene has the capacity to modify the development of cerebellar systems implicated in ASD neurobiology. En ligne : http://dx.doi.org/10.1002/aur.238 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155

An A-Z of Genetic Factors in Autism / Kenneth J. AITKEN

Public ISBD Titre : An A-Z of Genetic Factors in Autism : A Handbook for Professionals Type de document : Texte imprimé et/ou numérique Auteurs : Kenneth J. AITKEN, Auteur Editeur : Londres [Angleterre] : Jessica Kingsley Publishers Année de publication : 2010 Importance : 542 p. Format : 19,2cm x 26cm x 4cm ISBN/ISSN/EAN : 978-1-84310-976-1 Note générale : Bibliogr., Index Langues : Anglais (eng) Index. décimale : SCI-B SCI-B - Génétique Résumé : Our understanding of the biological bases to the autistic spectrum disorders (ASDs) is advancing rapidly. Over 80 genetic conditions have now been reported in people who have also been diagnosed with ASDs. Many of these conditions have specific implications for the presenting phenotype and for treatment, management, and intervention. If the basis to the presenting behavioural phenotype is not identified, this can result in a sub-optimal level of care, complications, or even permanent damage. Kenneth J. Aitken shows that the notion of a single condition known as 'autism' is no longer tenable, and challenges current trends in the diagnosis and management of these behaviours as a homogenous group by drawing on recent research into brain function, genetics, epidemiology and neurology. This volume explains the biology and genetics of ASD, and provides clinicians and researchers with a comprehensive summary of each genetic factor including the research that links it to ASD, diagnosis and treatment issues, and related animal models, as well as detailing relevant professional organisations and avenues for further research. An A-Z of Genetic Factors in Autism is an essential resource for a wide range of researchers, clinical professionals and students interested in autism spectrum disorders, including clinical and educational psychologists, dieticians, psychiatrists, and neurologists. [Résumé d'Auteur/Editeur] Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=266 An A-Z of Genetic Factors in Autism : A Handbook for Professionals [Texte imprimé et/ou numérique] / Kenneth J. AITKEN, Auteur . - Londres [Angleterre] : Jessica Kingsley Publishers, 2010 . - 542 p. ; 19,2cm x 26cm x 4cm. ISBN : 978-1-84310-976-1 Bibliogr., Index Langues : Anglais (eng) Index. décimale : SCI-B SCI-B - Génétique Résumé : Our understanding of the biological bases to the autistic spectrum disorders (ASDs) is advancing rapidly. Over 80 genetic conditions have now been reported in people who have also been diagnosed with ASDs. Many of these conditions have specific implications for the presenting phenotype and for treatment, management, and intervention. If the basis to the presenting behavioural phenotype is not identified, this can result in a sub-optimal level of care, complications, or even permanent damage. Kenneth J. Aitken shows that the notion of a single condition known as 'autism' is no longer tenable, and challenges current trends in the diagnosis and management of these behaviours as a homogenous group by drawing on recent research into brain function, genetics, epidemiology and neurology. This volume explains the biology and genetics of ASD, and provides clinicians and researchers with a comprehensive summary of each genetic factor including the research that links it to ASD, diagnosis and treatment issues, and related animal models, as well as detailing relevant professional organisations and avenues for further research. An A-Z of Genetic Factors in Autism is an essential resource for a wide range of researchers, clinical professionals and students interested in autism spectrum disorders, including clinical and educational psychologists, dieticians, psychiatrists, and neurologists. [Résumé d'Auteur/Editeur] Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=266

Exemplaires (1)

Code-barres	Cote	Support	Localisation	Section	Disponibilité
DOC0003395	SCI-B AIT	Livre	Centre d'Information et de Documentation du CRA Rhône-Alpes	SCI - Disciplines Scientifiques	Disponible

Les abonnés qui ont emprunté ce document ont également emprunté :

Explorations dans le monde de l'autisme	MELTZER, Donald
Approches plurielles des autismes	CRESPIN, Graciela C.
L'enfant autiste	MINEAU, Suzanne
Pratiques psychoéducatives innovantes auprès des personnes ayant un trouble du spectre de l'autisme	ROUSSEAU, Myriam
Histoire de l’empathie	BOUVAREL, Alain
Résilience, régulation et qualité de vie	NADER-GROSBOIS, Nathalie

Analysis of Three Coding Region Polymorphisms in Autism: Evidence for an Association with the Serotonin Transporter / Nurit YIRMIYA

Public ISBD contenu dans The Research Basis for Autism Intervention / Eric SCHOPLER Titre : Analysis of Three Coding Region Polymorphisms in Autism: Evidence for an Association with the Serotonin Transporter Type de document : Texte imprimé et/ou numérique Auteurs : Nurit YIRMIYA, Auteur ; Tammy PILOWSKY, Auteur ; Lubov NEMANOV, Auteur ; Shoshana ARBELLE, Auteur ; Temira FEINSILVER, Auteur ; Iris FRIED, Auteur ; Richard P. EBSTEIN, Auteur Année de publication : 2001 Importance : p.91-101 Langues : Anglais (eng) Index. décimale : APP-D APP-D - Interventions Educatives - Généralités Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=100 contenu dans The Research Basis for Autism Intervention / Eric SCHOPLER Analysis of Three Coding Region Polymorphisms in Autism: Evidence for an Association with the Serotonin Transporter [Texte imprimé et/ou numérique] / Nurit YIRMIYA, Auteur ; Tammy PILOWSKY, Auteur ; Lubov NEMANOV, Auteur ; Shoshana ARBELLE, Auteur ; Temira FEINSILVER, Auteur ; Iris FRIED, Auteur ; Richard P. EBSTEIN, Auteur . - 2001 . - p.91-101. Langues : Anglais (eng) Index. décimale : APP-D APP-D - Interventions Educatives - Généralités Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=100

Exemplaires

Code-barres	Cote	Support	Localisation	Section	Disponibilité
aucun exemplaire

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L'apport de la génétique à la compréhension des origines de l'autisme / Sylvain BRIAULT

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Association of a functional variant of the nitric oxide synthase 1 gene with personality, anxiety, and depressiveness / Triin KURRIKOFF in Development and Psychopathology, 24-4 (November 2012)  

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