Developmental Delay, Intellectual Disability and Autism Spectrum Disorders
Developmental Delay (DD), Intellectual Disability (ID), and Autism Spectrum Disorders (ASD) are neurodevelopmental disorders that are typically diagnosed in early childhood. Often diagnosis of such disorders is challenging due to the wide range of symptoms, severity, nonspecific presentation, potentially overlapping differential diagnoses, or a rare disorder.
Developmental delay and intellectual disability occur in up to 3% of the general population. The reported incidence of autism spectrum disorders has increased dramatically over the past two decades. These trends have resulted in an increase in the number of referrals to clinical geneticist for the evaluation of persons with DD, ID and/or ASD.
Multiple lines of evidence support that genetic factors play a pivotal role in the etiology of these neurodevelopmental disorders. In recent years, molecular technologies have strikingly increased gene discovery and understanding the causes of genetic disorders. The rationale for a genetic evaluation is based on the goal of identifying a unifying diagnosis for a patient.
A definitive diagnosis provides the following benefits:
Targeting genes known to be implicated in DD, ID and/or ASD