Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Catégories
Documents disponibles dans cette catégorie (29)
Faire une suggestion Affiner la recherche
An A-Z of Genetic Factors in Autism / Kenneth J. AITKEN
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 :
Fonctionnement autistique chez l'adulte BRIOUL, Michel Decisions ColorCards Les parents d'enfants autistes et psychotiques BOUVAREL, Alain Une histoire de l'empathie HOCHMANN, Jacques Approches plurielles des autismes CRESPIN, Graciela C. Autismes GEPNER, Bruno Approche neuropsychologique des syndromes génétiques liés aux chromosomes X et Y / Jean-Adolphe RONDAL
Titre : Approche neuropsychologique des syndromes génétiques liés aux chromosomes X et Y Type de document : Texte imprimé et/ou numérique Auteurs : Jean-Adolphe RONDAL, Auteur ; Annick COMBLAIN, Auteur Année de publication : 2009 Importance : p.573-612 Langues : Français (fre) Index. décimale : SCI-C SCI-C - Neuropsychologie Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=112 Approche neuropsychologique des syndromes génétiques liés aux chromosomes X et Y [Texte imprimé et/ou numérique] / Jean-Adolphe RONDAL, Auteur ; Annick COMBLAIN, Auteur . - 2009 . - p.573-612.
Langues : Français (fre)
Index. décimale : SCI-C SCI-C - Neuropsychologie Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=112 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Characteristics of autism spectrum disorder in Cornelia de Lange syndrome / Jo MOSS in Journal of Child Psychology and Psychiatry, 53-8 (August 2012)
[article]
Titre : Characteristics of autism spectrum disorder in Cornelia de Lange syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Jo MOSS, Auteur ; Patricia HOWLIN, Auteur ; Iliana MAGIATI, Auteur ; Chris OLIVER, Auteur Année de publication : 2012 Article en page(s) : p.883-891 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Cornelia de Lange syndrome behavioural phenotypes genetic syndromes neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : Background: The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in Cornelia de Lange syndrome (CdLS). However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. In this study we examine the ASD profile in CdLS in comparison to a matched group of individuals with ASD. Method: The Autism Diagnostic Observation Schedule (ADOS) was administered to 20 individuals with CdLS (mean age = 11.34; range = 6–13 years) and 20 individuals with idiopathic ASD (mean age = 10.42; range = 8–11 years). Participants were matched according to adaptive behaviour and receptive language skills. Results: Sixty-five percent (N = 13) of individuals with CdLS met the cut-off score for autism on the total ADOS score. Further analysis at domain and item level indicated that individuals with CdLS showed significantly less repetitive behaviour, (specifically sensory interests); more eye contact, more gestures and less stereotyped speech than the ASD group. The CdLS group also showed higher levels of anxiety. Conclusions: The comparison between CdLS and idiopathic ASD indicates subtle group differences in the profile of ASD symptomatology that are not accounted for by degree of intellectual disability or receptive language skills. These differences may not be evident when relying solely upon clinical and domain level scores, but may be distinguishing features of the ASD presentations in the two disorders. The findings have implications for the conceptualisation and assessment of ASD in individuals with genetic syndromes. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2012.02540.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=177
in Journal of Child Psychology and Psychiatry > 53-8 (August 2012) . - p.883-891[article] Characteristics of autism spectrum disorder in Cornelia de Lange syndrome [Texte imprimé et/ou numérique] / Jo MOSS, Auteur ; Patricia HOWLIN, Auteur ; Iliana MAGIATI, Auteur ; Chris OLIVER, Auteur . - 2012 . - p.883-891.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 53-8 (August 2012) . - p.883-891
Mots-clés : Autism spectrum disorder Cornelia de Lange syndrome behavioural phenotypes genetic syndromes neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : Background: The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in Cornelia de Lange syndrome (CdLS). However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. In this study we examine the ASD profile in CdLS in comparison to a matched group of individuals with ASD. Method: The Autism Diagnostic Observation Schedule (ADOS) was administered to 20 individuals with CdLS (mean age = 11.34; range = 6–13 years) and 20 individuals with idiopathic ASD (mean age = 10.42; range = 8–11 years). Participants were matched according to adaptive behaviour and receptive language skills. Results: Sixty-five percent (N = 13) of individuals with CdLS met the cut-off score for autism on the total ADOS score. Further analysis at domain and item level indicated that individuals with CdLS showed significantly less repetitive behaviour, (specifically sensory interests); more eye contact, more gestures and less stereotyped speech than the ASD group. The CdLS group also showed higher levels of anxiety. Conclusions: The comparison between CdLS and idiopathic ASD indicates subtle group differences in the profile of ASD symptomatology that are not accounted for by degree of intellectual disability or receptive language skills. These differences may not be evident when relying solely upon clinical and domain level scores, but may be distinguishing features of the ASD presentations in the two disorders. The findings have implications for the conceptualisation and assessment of ASD in individuals with genetic syndromes. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2012.02540.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=177 Clinical and Laboratory Data in a Sample of Greek Children with Autism Spectrum Disorders / Athina VERVERI in Journal of Autism and Developmental Disorders, 42-7 (July 2012)
[article]
Titre : Clinical and Laboratory Data in a Sample of Greek Children with Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Athina VERVERI, Auteur ; Efthymia VARGIAMI, Auteur ; Vassiliki PAPADOPOULOU, Auteur ; Dimitrios TRYFONAS, Auteur ; Dimitrios I. ZAFEIRIOU, Auteur Année de publication : 2012 Article en page(s) : p.1470-1476 Langues : Anglais (eng) Mots-clés : Autism Genetic syndromes Metabolic Epilepsy Macrocephaly Index. décimale : PER Périodiques Résumé : The purpose of this study is to describe clinical and laboratory data, as well as comorbid disorders in Greek children with autism spectrum disorders (ASD). Data were retrospectively collected for 222 children aged 1.5–9 years. The mean age at diagnosis was 43.7 ± 17.6 months. Significantly earlier diagnoses were noted in children with comorbid disorders (epilepsy, hearing deficits, genetic/metabolic disorders), mental retardation and a large head circumference (HC). Macrocephaly (HC ≥ 97th percentile) was found in 21.2% of children, genetic and metabolic disorders in 11.7% and 2.7% respectively and mental retardation in 23%. Patients with certain clinical features (i.e. syndromic) are earlier diagnosed. It is of ultimate importance to promptly identify all children with ASD, probably through the appliance of screening and surveillance programs in the Greek population. En ligne : http://dx.doi.org/10.1007/s10803-011-1414-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=166
in Journal of Autism and Developmental Disorders > 42-7 (July 2012) . - p.1470-1476[article] Clinical and Laboratory Data in a Sample of Greek Children with Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Athina VERVERI, Auteur ; Efthymia VARGIAMI, Auteur ; Vassiliki PAPADOPOULOU, Auteur ; Dimitrios TRYFONAS, Auteur ; Dimitrios I. ZAFEIRIOU, Auteur . - 2012 . - p.1470-1476.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 42-7 (July 2012) . - p.1470-1476
Mots-clés : Autism Genetic syndromes Metabolic Epilepsy Macrocephaly Index. décimale : PER Périodiques Résumé : The purpose of this study is to describe clinical and laboratory data, as well as comorbid disorders in Greek children with autism spectrum disorders (ASD). Data were retrospectively collected for 222 children aged 1.5–9 years. The mean age at diagnosis was 43.7 ± 17.6 months. Significantly earlier diagnoses were noted in children with comorbid disorders (epilepsy, hearing deficits, genetic/metabolic disorders), mental retardation and a large head circumference (HC). Macrocephaly (HC ≥ 97th percentile) was found in 21.2% of children, genetic and metabolic disorders in 11.7% and 2.7% respectively and mental retardation in 23%. Patients with certain clinical features (i.e. syndromic) are earlier diagnosed. It is of ultimate importance to promptly identify all children with ASD, probably through the appliance of screening and surveillance programs in the Greek population. En ligne : http://dx.doi.org/10.1007/s10803-011-1414-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=166 Comorbidités somatiques dans l’autisme: état des connaissances / Jean-Philippe RAYNAUD
Titre : Comorbidités somatiques dans l’autisme: état des connaissances Type de document : Texte imprimé et/ou numérique Auteurs : Jean-Philippe RAYNAUD, Auteur Année de publication : 2011 Importance : p.13-26 Langues : Français (fre) Mots-clés : Deficit sensoriel Index. décimale : AUT-E AUT-E - L'Autisme - Accompagnement et Qualité de Vie Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=204 Comorbidités somatiques dans l’autisme: état des connaissances [Texte imprimé et/ou numérique] / Jean-Philippe RAYNAUD, Auteur . - 2011 . - p.13-26.
Langues : Français (fre)
Mots-clés : Deficit sensoriel Index. décimale : AUT-E AUT-E - L'Autisme - Accompagnement et Qualité de Vie Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=204 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Comprendre et prévenir la déficience intellectuelle / Evelyne PANNETIER
PermalinkConseil génétique dans une famille / Simone GILGENKRANTZ
PermalinkDéficiences intellectuelles et intégration sociale / Michèle CARLIER
PermalinkEducation ou rééducation du langage dans le cadre des maladies génétiques
PermalinkLes fonctions exécutives de l'enfant / Arnaud ROY
PermalinkLa fratrie confrontée aux inégalités de la génétique / Martine FRISCHMANN
PermalinkGenetic Syndromes and Applied Behaviour Analysis / Dorothy GRIFFITHS
PermalinkLa génétique / Thierry BIENVENU
PermalinkGénétique pédiatrique pratique : Du symptôme au syndrôme / Marion GÉRARD
PermalinkLes maladies génétiques rares / Isabelle EYOUM
PermalinkMedical comorbidities in autism spectrum disorder / Jennifer R. WALTON
PermalinkNeuropsychologie de l'enfant / Arnaud ROY
PermalinkObservation du tonus : un élément de dépistage des maladies génétiques rares (protocole de dépistage issu de la batterie EVALO BB : O-36 mois) / Amandine FEUERSTEIN in Rééducation Orthophonique, 250 (Juin 2012)
PermalinkLa personne ayant une déficience intellectuelle / Jean-Charles JUHEL
PermalinkPrésentations autistiques des maladies génétiques / Arnold MUNNICH
PermalinkRééducation cognitive chez l'enfant / Charlotte SEGUIN
PermalinkRemédiation cognitive et microdélétion 22q11 / Caroline DEMILY
PermalinkRetard mental et syndromes génétiques associés à l'autisme / Frédérique BONNET-BRILHAULT
PermalinkSignes cliniques et diagnostiques / Pierre CASTELNAU
PermalinkSocial Impairments in Chromosome 22q11.2 Deletion Syndrome (22q11.2DS): Autism Spectrum Disorder or a Different Endophenotype? / Kathleen ANGKUSTSIRI in Journal of Autism and Developmental Disorders, 44-4 (April 2014)
Permalink