Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.

ABSTRACT:

Background

Neurogenetics investigations and diagnostic yield in patients with autism spectrum disorder (ASD) have significantly improved over the last few years. Yet, many patients still fail to be systematically investigated.

Methods

To improve access to services, an ambulatory team has been established since 1998, delivering on-site clinical genetics consultations and gradually upgrading services to 502 children and young adults with ASD in their standard environment across 26 day-care hospitals and specialized institutions within the Greater Paris region. The evaluation included a clinical genetics consultation, screening for fragile X syndrome, metabolic workup, chromosomal microarray analysis, and, in a proportion of patients, next-generation sequencing of genes reporte

SUBMITTER: Munnich A 

PROVIDER: S-EPMC6686526 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature