A carregar...
Publicação
An integrative system biology approach to delineate complex genotype-phenotype associations in Autism Spectrum Disorder
| Nome: | Descrição: | Tamanho: | Formato: | |
|---|---|---|---|---|
| 2.06 MB | Adobe PDF |
Orientador(es)
Resumo(s)
Introduction: Autism Spectrum Disorder (ASD) is characterized by deficits in social interaction and communication,
and by the presence of repetitive behavior and/or restricted interests. ASD manifests with heterogeneous phenotype and has an estimated global prevalence of ~1%;- ASD is difficult to diagnose in very young children. Delayed diagnosis leads to delay in applying
behavioral therapies that may help to reduce symptoms, particularly when applied at young age; - Copy Number Variant (CNV) screening has been widely used for primary diagnosis purposes and is associated with phenotypic variability in ASD patients; - Large scale studies have identified hundreds of ASD implicated loci; however, mechanistic and clinical interpretation of these disease-causing variants remains elusive.
Descrição
Palavras-chave
Autism Spectrum Disorder Perturbações do Desenvolvimento Infantil e Saúde Mental Autismo
Contexto Educativo
Citação
Editora
Instituto Nacional de Saúde Doutor Ricardo Jorge, IP