Genetic research in Autism Spectrum Disorder (ASD) has progressed tremendously in
recent decades. Dozens of genetic loci and hundreds of alterations in the genetic sequence …

Background The introduction of massive parallel sequencing has contributed to a decline in
sequencing costs. In recent years, whole-exome sequencing (WES) and whole-genome …

Purpose and scope The aim of this position statement is to provide recommendations for
clinicians regarding the use of genetic and metabolic investigations for patients with …

Purpose Genetic testing is routine practice for individuals with unexplained developmental
disabilities and multiple congenital anomalies. However, current testing pathways can be …

An examination of diagnostic processes that questions how we can better understand
autism as a category and the unique forms of intelligence it glosses. As autism has grown in …

Economic evaluation is used to determine the optimal provision of services and programs
under budget constraints and to inform public and private payer funding decisions. To …

In recent years, massively parallel sequencing or next generation sequencing (NGS) has
considerably changed both the research and diagnostic fields, and rapid developments …

Background: Genome-wide sequencing has emerged as a promising strategy for the timely
diagnosis of rare diseases, but it is not yet available as a clinical test performed in Canadian …

Purpose Genome sequencing (GS) can aid clinical management of multiple pediatric
conditions. Insurers require accurate cost information to inform funding and implementation …

Challenges in social communication and interaction are core features of autism spectrum
disorder (ASD) for which social skills group training (SSGT) is a commonly used …