| Titre : |
Autism Spectrum Disorders Versus Genetic Syndromes |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
Shafali JESTE, Auteur |
| Année de publication : |
2022 |
| Importance : |
p.195-215 |
| Langues : |
Anglais (eng) |
| Index. décimale : |
AUT-D AUT-D - L'Autisme - Dépistage et Diagnostic |
| Résumé : |
Approximately 25% of neurodevelopmental disorders, including intellectual disability and autism spectrum disorder, are caused by rare genetic variants and mutations. In fact, genetic testing is the gold standard medical workup for all individuals with an autism spectrum disorder. With the advances in genetic testing, new genes are being discovered daily. This chapter discusses the basis of genetic abnormalities in neurodevelopmental disorders, reviews clinical features of specific neurogenetic conditions, and outlines the current recommendations for genetic testing of individuals with neurodevelopmental disorders. The importance of identifying a neurodevelopmental condition, regardless of the underlying genetic etiology, is emphasized, with the goal of leveraging the support of patient advocacy groups, understanding clinical prognosis, and accessing appropriate, often targeted interventions. The chapter concludes with discussion about the promise of precision health for these genetic syndromes and the need for rigorous studies to improve clinical trial readiness. |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=528 |
Autism Spectrum Disorders Versus Genetic Syndromes [Texte imprimé et/ou numérique] / Shafali JESTE, Auteur . - 2022 . - p.195-215. Langues : Anglais ( eng)
| Index. décimale : |
AUT-D AUT-D - L'Autisme - Dépistage et Diagnostic |
| Résumé : |
Approximately 25% of neurodevelopmental disorders, including intellectual disability and autism spectrum disorder, are caused by rare genetic variants and mutations. In fact, genetic testing is the gold standard medical workup for all individuals with an autism spectrum disorder. With the advances in genetic testing, new genes are being discovered daily. This chapter discusses the basis of genetic abnormalities in neurodevelopmental disorders, reviews clinical features of specific neurogenetic conditions, and outlines the current recommendations for genetic testing of individuals with neurodevelopmental disorders. The importance of identifying a neurodevelopmental condition, regardless of the underlying genetic etiology, is emphasized, with the goal of leveraging the support of patient advocacy groups, understanding clinical prognosis, and accessing appropriate, often targeted interventions. The chapter concludes with discussion about the promise of precision health for these genetic syndromes and the need for rigorous studies to improve clinical trial readiness. |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=528 |
|
Autism Spectrum Disorders Versus Genetic Syndromes