Introduction

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in social communication and social interaction, as well as the presence of restricted and repetitive behaviors.  There can be a wide range of symptoms and severity.  ASD is a lifelong condition typically diagnosed in early childhood, although in mild cases it may not be identified until much later.

Epidemiology

The prevalence of ASD is estimated to be approximately 1% worldwide.  It is diagnosed more commonly in males compared to females (~4:1); however, there may be underdiagnosis among female patients.

Pathogenesis and risk factors

Although the pathogenesis of ASD is unclear, a combination of genetic and environmental factors have been implicated:

  • Genetic factors:  include family history and associated genetic disorders, such as Fragile X syndrome, Rett syndrome, tuberous sclerosis complex, trisomy 21, Prader-Willi syndrome, and Angel syndrome (

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