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
-
Résultat de la recherche
2 recherche sur le mot-clé 'Genetic disorders'
Affiner la recherche Générer le flux rss de la recherche
Partager le résultat de cette recherche Faire une suggestion
A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development / S. K. SHAPIRA in Journal of Autism and Developmental Disorders, 49-5 (May 2019)
[article]
Titre : A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development Type de document : Texte imprimé et/ou numérique Auteurs : S. K. SHAPIRA, Auteur ; L. H. TIAN, Auteur ; Arthur S. AYLSWORTH, Auteur ; E. R. ELIAS, Auteur ; J. E. HOOVER-FONG, Auteur ; N. J. L. MEEKS, Auteur ; M. C. SOUDERS, Auteur ; A. C. TSAI, Auteur ; E. H. ZACKAI, Auteur ; A. A. ALEXANDER, Auteur ; M. YEARGIN-ALLSOPP, Auteur ; Laura A. SCHIEVE, Auteur Article en page(s) : p.2184-2202 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Birth defects Dysmorphic features Dysmorphology Genetic disorders Morphologic anomalies Phenotypic classification Race/ethnicity Index. décimale : PER Périodiques Résumé : The presence of multiple dysmorphic features in some children with autism spectrum disorder (ASD) might identify distinct ASD phenotypes and serve as potential markers for understanding causes and prognoses. To evaluate dysmorphology in ASD, children aged 3-6 years with ASD and non-ASD population controls (POP) from the Study to Explore Early Development were evaluated using a novel, systematic dysmorphology review approach. Separate analyses were conducted for non-Hispanic White, non-Hispanic Black, and Hispanic children. In each racial/ethnic group, ~ 17% of ASD cases were Dysmorphic compared with ~ 5% of POP controls. The ASD-POP differential was not explained by known genetic disorders or birth defects. In future epidemiologic studies, subgrouping ASD cases as Dysmorphic vs. Non-dysmorphic might help delineate risk factors for ASD. En ligne : http://dx.doi.org/10.1007/s10803-019-03899-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=393
in Journal of Autism and Developmental Disorders > 49-5 (May 2019) . - p.2184-2202[article] A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development [Texte imprimé et/ou numérique] / S. K. SHAPIRA, Auteur ; L. H. TIAN, Auteur ; Arthur S. AYLSWORTH, Auteur ; E. R. ELIAS, Auteur ; J. E. HOOVER-FONG, Auteur ; N. J. L. MEEKS, Auteur ; M. C. SOUDERS, Auteur ; A. C. TSAI, Auteur ; E. H. ZACKAI, Auteur ; A. A. ALEXANDER, Auteur ; M. YEARGIN-ALLSOPP, Auteur ; Laura A. SCHIEVE, Auteur . - p.2184-2202.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 49-5 (May 2019) . - p.2184-2202
Mots-clés : Autism spectrum disorder Birth defects Dysmorphic features Dysmorphology Genetic disorders Morphologic anomalies Phenotypic classification Race/ethnicity Index. décimale : PER Périodiques Résumé : The presence of multiple dysmorphic features in some children with autism spectrum disorder (ASD) might identify distinct ASD phenotypes and serve as potential markers for understanding causes and prognoses. To evaluate dysmorphology in ASD, children aged 3-6 years with ASD and non-ASD population controls (POP) from the Study to Explore Early Development were evaluated using a novel, systematic dysmorphology review approach. Separate analyses were conducted for non-Hispanic White, non-Hispanic Black, and Hispanic children. In each racial/ethnic group, ~ 17% of ASD cases were Dysmorphic compared with ~ 5% of POP controls. The ASD-POP differential was not explained by known genetic disorders or birth defects. In future epidemiologic studies, subgrouping ASD cases as Dysmorphic vs. Non-dysmorphic might help delineate risk factors for ASD. En ligne : http://dx.doi.org/10.1007/s10803-019-03899-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=393 Learning by observation and learning by doing in Prader-Willi syndrome / F. FOTI in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)
[article]
Titre : Learning by observation and learning by doing in Prader-Willi syndrome Type de document : Texte imprimé et/ou numérique Auteurs : F. FOTI, Auteur ; D. MENGHINI, Auteur ; E. ORLANDI, Auteur ; C. RUFINI, Auteur ; A. CRINO, Auteur ; S. SPERA, Auteur ; S. VICARI, Auteur ; L. PETROSINI, Auteur ; L. MANDOLESI, Auteur Article en page(s) : p.6 Langues : Anglais (eng) Mots-clés : Genetic disorders Imitation Learning by trial and error Observational learning Sequential learning Social learning Index. décimale : PER Périodiques Résumé : BACKGROUND: New competencies may be learned through active experience (learning by doing) or observation of others' experience (learning by observation). Observing another person performing a complex action accelerates the observer's acquisition of the same action, limiting the time-consuming process of learning by doing. Here, we compared learning by observation and learning by doing in individuals with Prader-Willi syndrome (PWS). It is hypothesized that PWS individuals could show more difficulties with learning by observation than learning by doing because of their specific difficulty in interpreting and using social information. METHODS: The performance of 24 PWS individuals was compared with that of 28 mental age (MA)- and gender-matched typically developing (TD) children in tasks of learning a visuo-motor sequence by observation or by doing. To determine whether the performance pattern exhibited by PWS participants was specific to this population or whether it was a nonspecific intellectual disability effect, we compared the PWS performances with those of a third MA- and gender-matched group of individuals with Williams syndrome (WS). RESULTS: PWS individuals were severely impaired in detecting a sequence by observation, were able to detect a sequence by doing, and became as efficient as TD children in reproducing an observed sequence after a task of learning by doing. The learning pattern of PWS children was reversed compared with that of WS individuals. CONCLUSIONS: The observational learning deficit in PWS individuals may be rooted, at least partially, in their incapacity to understand and/or use social information. En ligne : http://dx.doi.org/10.1186/s11689-015-9102-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347
in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.6[article] Learning by observation and learning by doing in Prader-Willi syndrome [Texte imprimé et/ou numérique] / F. FOTI, Auteur ; D. MENGHINI, Auteur ; E. ORLANDI, Auteur ; C. RUFINI, Auteur ; A. CRINO, Auteur ; S. SPERA, Auteur ; S. VICARI, Auteur ; L. PETROSINI, Auteur ; L. MANDOLESI, Auteur . - p.6.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.6
Mots-clés : Genetic disorders Imitation Learning by trial and error Observational learning Sequential learning Social learning Index. décimale : PER Périodiques Résumé : BACKGROUND: New competencies may be learned through active experience (learning by doing) or observation of others' experience (learning by observation). Observing another person performing a complex action accelerates the observer's acquisition of the same action, limiting the time-consuming process of learning by doing. Here, we compared learning by observation and learning by doing in individuals with Prader-Willi syndrome (PWS). It is hypothesized that PWS individuals could show more difficulties with learning by observation than learning by doing because of their specific difficulty in interpreting and using social information. METHODS: The performance of 24 PWS individuals was compared with that of 28 mental age (MA)- and gender-matched typically developing (TD) children in tasks of learning a visuo-motor sequence by observation or by doing. To determine whether the performance pattern exhibited by PWS participants was specific to this population or whether it was a nonspecific intellectual disability effect, we compared the PWS performances with those of a third MA- and gender-matched group of individuals with Williams syndrome (WS). RESULTS: PWS individuals were severely impaired in detecting a sequence by observation, were able to detect a sequence by doing, and became as efficient as TD children in reproducing an observed sequence after a task of learning by doing. The learning pattern of PWS children was reversed compared with that of WS individuals. CONCLUSIONS: The observational learning deficit in PWS individuals may be rooted, at least partially, in their incapacity to understand and/or use social information. En ligne : http://dx.doi.org/10.1186/s11689-015-9102-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347