| Titre : |
Fragile X Syndrome |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
Anne HOFFMANN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur |
| Année de publication : |
2016 |
| Importance : |
p.325-346 |
| Langues : |
Anglais (eng) |
| Mots-clés : |
Autism spectrum disorder FMR1 FMRP Fragile X syndrome Intellectual disability |
| Index. décimale : |
SCI-D SCI-D - Neurosciences |
| Résumé : |
Fragile X syndrome (FXS) is recognized as the most common identifiable genetic cause of intellectual disability and autistic spectrum disorders (ASDs), with many overlapping phenotypic features. Fragile X syndrome is caused by absence or reduction of expression of the fragile X mental retardation protein and is associated with a variety of behavioral, physical, and medical problems, which are managed through supportive treatment, often incorporating psychopharmacology to ameliorate limiting behaviors. Specific patterns of cognitive, language, and adaptive strengths and weaknesses are typically present and can be used to tailor educational and therapeutic programming to the needs of the individual with FXS. Recent major advances in the understanding of the underlying neurobiology in FXS have led to the discovery of agents that rescue phenotypes in the FXS mouse model and to early clinical trials of targeted treatments in humans with FXS. Thus, translational strategies in FXS may serve as models for ASD and other cognitive disorders. |
| En ligne : |
http://dx.doi.org/10.1016/B978-0-12-800109-7.00020-0 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 |
Fragile X Syndrome [Texte imprimé et/ou numérique] / Anne HOFFMANN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur . - 2016 . - p.325-346. Langues : Anglais ( eng)
| Mots-clés : |
Autism spectrum disorder FMR1 FMRP Fragile X syndrome Intellectual disability |
| Index. décimale : |
SCI-D SCI-D - Neurosciences |
| Résumé : |
Fragile X syndrome (FXS) is recognized as the most common identifiable genetic cause of intellectual disability and autistic spectrum disorders (ASDs), with many overlapping phenotypic features. Fragile X syndrome is caused by absence or reduction of expression of the fragile X mental retardation protein and is associated with a variety of behavioral, physical, and medical problems, which are managed through supportive treatment, often incorporating psychopharmacology to ameliorate limiting behaviors. Specific patterns of cognitive, language, and adaptive strengths and weaknesses are typically present and can be used to tailor educational and therapeutic programming to the needs of the individual with FXS. Recent major advances in the understanding of the underlying neurobiology in FXS have led to the discovery of agents that rescue phenotypes in the FXS mouse model and to early clinical trials of targeted treatments in humans with FXS. Thus, translational strategies in FXS may serve as models for ASD and other cognitive disorders. |
| En ligne : |
http://dx.doi.org/10.1016/B978-0-12-800109-7.00020-0 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 |
|
Fragile X Syndrome
