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 (137)
Faire une suggestion Affiner la recherche
High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters / Pauline CHASTE in Molecular Autism, (June 2012)
[article]
Titre : High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters Type de document : Texte imprimé et/ou numérique Auteurs : Pauline CHASTE, Auteur ; Catalina BETANCUR, Auteur ; Marion GERARD-BLANLUET, Auteur ; Anne BARGIACCHI, Auteur ; Suzanne KUZBARI, Auteur ; Séverine DRUNAT, Auteur ; Marion LEBOYER, Auteur ; Thomas BOURGERON, Auteur ; Richard DELORME, Auteur Année de publication : 2012 Article en page(s) : 13 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Background
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability (ID), as well as the most frequent monogenic cause of autism spectrum disorder (ASD). Men with FXS exhibit ID, often associated with autistics features, whereas women heterozygous for the full mutation are typically less severely affected; about half have a normal or borderline intelligence quotient (IQ). Previous findings have shown a strong association between ID and ASD in both men and women with FXS. We describe here the case of two sisters with ASD and FXS but without ID. One of the sisters presented with high-functioning autism, the other one with pervasive developmental disorder not otherwise specified and low normal IQ.
Methods
The methylation status of the mutated FMR1 alleles was examined by Southern blot and methylation-sensitive polymerase chain reaction. The X-chromosome inactivation was determined by analyzing the methylation status of the androgen receptor at Xq12.
Results
We present the phenotype of the two sisters and other family members. Both sisters carried a full mutation in the FMR1 gene, with complete methylation and random X chromosome inactivation.
Conclusions
These findings suggest that autistic behaviors and cognitive impairment can manifest as independent traits in FXS. Mutations in FMR1, known to cause syndromic autism, may also contribute to the etiology of high-functioning, non-syndromic ASD, particularly in women. Thus, screening for FXS in patients with ASD should not be limited to those with comorbid ID.En ligne : http://dx.doi.org/10.1186/2040-2392-3-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178
in Molecular Autism > (June 2012) . - 13 p.[article] High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters [Texte imprimé et/ou numérique] / Pauline CHASTE, Auteur ; Catalina BETANCUR, Auteur ; Marion GERARD-BLANLUET, Auteur ; Anne BARGIACCHI, Auteur ; Suzanne KUZBARI, Auteur ; Séverine DRUNAT, Auteur ; Marion LEBOYER, Auteur ; Thomas BOURGERON, Auteur ; Richard DELORME, Auteur . - 2012 . - 13 p.
Langues : Anglais (eng)
in Molecular Autism > (June 2012) . - 13 p.
Index. décimale : PER Périodiques Résumé : Background
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability (ID), as well as the most frequent monogenic cause of autism spectrum disorder (ASD). Men with FXS exhibit ID, often associated with autistics features, whereas women heterozygous for the full mutation are typically less severely affected; about half have a normal or borderline intelligence quotient (IQ). Previous findings have shown a strong association between ID and ASD in both men and women with FXS. We describe here the case of two sisters with ASD and FXS but without ID. One of the sisters presented with high-functioning autism, the other one with pervasive developmental disorder not otherwise specified and low normal IQ.
Methods
The methylation status of the mutated FMR1 alleles was examined by Southern blot and methylation-sensitive polymerase chain reaction. The X-chromosome inactivation was determined by analyzing the methylation status of the androgen receptor at Xq12.
Results
We present the phenotype of the two sisters and other family members. Both sisters carried a full mutation in the FMR1 gene, with complete methylation and random X chromosome inactivation.
Conclusions
These findings suggest that autistic behaviors and cognitive impairment can manifest as independent traits in FXS. Mutations in FMR1, known to cause syndromic autism, may also contribute to the etiology of high-functioning, non-syndromic ASD, particularly in women. Thus, screening for FXS in patients with ASD should not be limited to those with comorbid ID.En ligne : http://dx.doi.org/10.1186/2040-2392-3-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178 High-Functioning Individuals with Autism / Eric SCHOPLER
Titre : High-Functioning Individuals with Autism Type de document : Texte imprimé et/ou numérique Auteurs : Eric SCHOPLER, Directeur de publication ; Gary MESIBOV, Directeur de publication Editeur : New-York [Etats-Unis] : Plenum Press Année de publication : 1992 Collection : Current Issues in Autism Importance : 316 p. Présentation : ill. Format : 16,2cm x 24cm x 2,3cm ISBN/ISSN/EAN : 978-0-306-44064-9 Note générale : Bibliogr., Index Langues : Anglais (eng) Index. décimale : ASP-A ASP-A - Asperger - Généralités Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=960 High-Functioning Individuals with Autism [Texte imprimé et/ou numérique] / Eric SCHOPLER, Directeur de publication ; Gary MESIBOV, Directeur de publication . - New-York [Etats-Unis] : Plenum Press, 1992 . - 316 p. : ill. ; 16,2cm x 24cm x 2,3cm. - (Current Issues in Autism) .
ISBN : 978-0-306-44064-9
Bibliogr., Index
Langues : Anglais (eng)
Index. décimale : ASP-A ASP-A - Asperger - Généralités Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=960 Contient
- Personal Essays / Anne CARPENTER
- Introduction to High-Functioning Individuals with Autism / Gary MESIBOV
- Diagnostic Issues in High-Functioning Autism / Luke Y. TSAI
- Neuropsychological Studies of High-Level Autism / Judith M. RUMSEY
- Neurological Localization in Autism / Nancy J. MINSHEW
- A Parent's View of More Able People with Autism / Susan MORENO
- An Inside View of Autism / Temple GRANDIN
- Manifestations of Social Problems in High-Functioning Autistic People / Lorna WING
- Treatment Issues with High-Functioning Adolescents and Adults with Autism / Gary MESIBOV
- Social Perception in High-Level Autism / R. Peter HOBSON
- Outcome and Follow-Up Studies of High-Functioning Autistic Individuals / Catherine LORD
- A comparison of language issues in high-functioning autism and related disorders with onset in childhood and adolescence / Christiane A.M. BALTAXE
- Vocational possibilities for high-functioning adults with autism / Mary E. VAN BOURGONDIEN
- Parent essays / Ruth Christ SULLIVAN
Exemplaires (1)
Code-barres Cote Support Localisation Section Disponibilité DOC0001117 ASP-A SCH Livre Centre d'Information et de Documentation du CRA Rhône-Alpes ASP - Syndrome d'Asperger - Autisme de haut niveau Disponible Les abonnés qui ont emprunté ce document ont également emprunté :
Autisme et émotions VERMEULEN, Peter Apprendre aux enfants autistes à comprendre la pensée des autres HOWLIN, Patricia Etude de la perception de la prosodie émotionnelle chez des enfants autistes, dans la perspective de l'élaboration d'une fiche-conseil pour la prise en charge orthophonique CHASSAINT, Amélie Biologie des émotions BELZUNG, Catherine Understanding Autism SILVERMAN, Chloe Sentimage PUSTLAUK, Thilo De l'inquiétante étrangeté du langage des mots à la fonction du signe dans l'inventivité autistique / Gwénola DRUEL
Titre : De l'inquiétante étrangeté du langage des mots à la fonction du signe dans l'inventivité autistique Type de document : Texte imprimé et/ou numérique Auteurs : Gwénola DRUEL, Auteur Année de publication : 2013 Importance : p.171-195 Langues : Français (fre) Mots-clés : Synesthésie Index. décimale : PSY-B PSY-B - Autisme et Psychanalyse Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=198 De l'inquiétante étrangeté du langage des mots à la fonction du signe dans l'inventivité autistique [Texte imprimé et/ou numérique] / Gwénola DRUEL, Auteur . - 2013 . - p.171-195.
Langues : Français (fre)
Mots-clés : Synesthésie Index. décimale : PSY-B PSY-B - Autisme et Psychanalyse Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=198 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Introduction to High-Functioning Individuals with Autism / Gary MESIBOV
Titre : Introduction to High-Functioning Individuals with Autism Type de document : Texte imprimé et/ou numérique Auteurs : Gary MESIBOV, Auteur ; Eric SCHOPLER, Auteur Année de publication : 1992 Importance : p.3-9 Langues : Anglais (eng) Index. décimale : ASP-A ASP-A - Asperger - Généralités Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=960 Introduction to High-Functioning Individuals with Autism [Texte imprimé et/ou numérique] / Gary MESIBOV, Auteur ; Eric SCHOPLER, Auteur . - 1992 . - p.3-9.
Langues : Anglais (eng)
Index. décimale : ASP-A ASP-A - Asperger - Généralités Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=960 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Just Another Social Scene: Evidence for Decreased Attention to Negative Social Scenes in High-Functioning Autism / Andreia SANTOS in Journal of Autism and Developmental Disorders, 42-9 (September 2012)
[article]
Titre : Just Another Social Scene: Evidence for Decreased Attention to Negative Social Scenes in High-Functioning Autism Type de document : Texte imprimé et/ou numérique Auteurs : Andreia SANTOS, Auteur ; Thierry CHAMINADE, Auteur ; David DA FONSECA, Auteur ; Catarina SILVA, Auteur ; Delphine ROSSET, Auteur ; Christine DERUELLE, Auteur Année de publication : 2012 Article en page(s) : p.1790-1798 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders Threat detection advantage Eye-tracking Index. décimale : PER Périodiques Résumé : The adaptive threat-detection advantage takes the form of a preferential orienting of attention to threatening scenes. In this study, we compared attention to social scenes in 15 high-functioning individuals with autism (ASD) and matched typically developing (TD) individuals. Eye-tracking was recorded while participants were presented with pairs of scenes, either emotional positive-neutral, emotional negative-neutral or neutral–neutral scenes. Early allocation of attention, the first image fixated in each pair, differed between groups: contrary to TD individuals who showed the typical threat-detection advantage towards negative images, the ASD group failed to show a bias toward threat-related scenes. Later processing of stimuli, indicated by the total fixation to the images during the 3-s presentation, was found unaffected in the ASD group. These results support the hypothesis of an early atypical allocation of attention towards natural social scenes in ASD, that is compensated in later stages of visual processing. En ligne : http://dx.doi.org/10.1007/s10803-011-1415-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=180
in Journal of Autism and Developmental Disorders > 42-9 (September 2012) . - p.1790-1798[article] Just Another Social Scene: Evidence for Decreased Attention to Negative Social Scenes in High-Functioning Autism [Texte imprimé et/ou numérique] / Andreia SANTOS, Auteur ; Thierry CHAMINADE, Auteur ; David DA FONSECA, Auteur ; Catarina SILVA, Auteur ; Delphine ROSSET, Auteur ; Christine DERUELLE, Auteur . - 2012 . - p.1790-1798.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 42-9 (September 2012) . - p.1790-1798
Mots-clés : Autism spectrum disorders Threat detection advantage Eye-tracking Index. décimale : PER Périodiques Résumé : The adaptive threat-detection advantage takes the form of a preferential orienting of attention to threatening scenes. In this study, we compared attention to social scenes in 15 high-functioning individuals with autism (ASD) and matched typically developing (TD) individuals. Eye-tracking was recorded while participants were presented with pairs of scenes, either emotional positive-neutral, emotional negative-neutral or neutral–neutral scenes. Early allocation of attention, the first image fixated in each pair, differed between groups: contrary to TD individuals who showed the typical threat-detection advantage towards negative images, the ASD group failed to show a bias toward threat-related scenes. Later processing of stimuli, indicated by the total fixation to the images during the 3-s presentation, was found unaffected in the ASD group. These results support the hypothesis of an early atypical allocation of attention towards natural social scenes in ASD, that is compensated in later stages of visual processing. En ligne : http://dx.doi.org/10.1007/s10803-011-1415-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=180 Learning the R.O.P.E.S. for Improved Executive Function / Patricia SCHETTER
PermalinkLe lexique des verbes d’action en réception et en production et l’attribution d’intentions dans l’autisme de haut niveau / Aurélie JADAUD in Bulletin Scientifique de l'arapi (Le), 29 (Juillet 2012)
PermalinkMa théorie zéro / Kristian SCHOTT
PermalinkMaking Sense of Children's Thinking and Behavior / Leslie HOLZHAUSER-PETERS
PermalinkManifestations of Social Problems in High-Functioning Autistic People / Lorna WING
PermalinkMeasuring executive function in children with high functioning autism spectrum disorders: a clinic referred case study / Ayla HUMPHREY
PermalinkMon ami est autiste / Amanda DOERING-TOURVILLE
PermalinkMood Disorders in Mothers of Children on the Autism Spectrum Are Associated with Higher Functioning Autism / Roma A. VASA in Autism Research and Treatment, (July 2012)
PermalinkNavigating the Social World / Jeanette MCAFEE
PermalinkNeurological Localization in Autism / Nancy J. MINSHEW
Permalink