Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional
Official Title: Exploration and Characterization of Genetic and Phenotypic Profile of the "Early Dissociative Disorder" Associated With Autism Spectrum Disorder: a Pilot Study
Brief Summary:
Childhood schizophrenia "early dissociative disorder" is a rare disease with a low incidence of approximately (1 0/00 to 30/00 ). Its link with autism spectrum disorders remains unknown although both are serious neurodevelopmental diseases. As part of the 2011-2013 Interregional hospital Clinical Research program, University Department of Child and Adolescent Psychiatry Pediatric Hospitals of CHU (Centre Hospitalier Universitaire) de Nice Lenval identified 15 patients with a complex phenotype characterized by an early schizophrenia associated with autism spectrum disorders and developmental disabilities in mild to moderate. This phenotype could be a new syndrome called "schizotiste".
The goal of the investigator's project is to define the genetic causes of this phenotype. The technique of high throughput sequencing will be used to obtain the sequence of exomes of these patients and their families. This study will therefore be important to give an accurate diagnosis for patients and their families. Moreover, investigators believe that this project will identify new genes involved allowing a better understanding of the pathophysiology. Recent studies show the involvement of mutations in several genes (eg Shank, NLGN, NRXN and UPF3) in these different clinical phenotypes. However, the genetic basis of the child's schizophrenia are much less well known than those of autism spectrum disorder.