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:
  • facilitates acquisition of needed services and support
  • can empower families with the knowledge of the underlying cause of a disorder
  • provides possible identification of treatment opportunities to improve patient outcomes
  • eliminates unnecessary and/or prolonged diagnostic testing

Courtagen offers the following tests for neurodevelopment disorders: