Autism spectrum disorders: Clinical and medical perspectives

Abstract

The autism spectrum disorders (ASD) are identified by behaviorally defined clinical features characterized by core symptoms of impaired social interaction, delayed and disordered communication/language, and isolated areas of interest. It is now recognized that individuals affected with ASD are heterogeneous in terms of the cause of their disorder and the degree to which each is affected functionally and neurobiologically. Since its initial description in 1943, a growing body of research has broadened our perspective of the disorder and has created an environment whereby early diagnosis and intervention has become the standard of care, with the realization that, in many cases, early identification and intensive therapies can lead to more positive developmental outcomes. With advancements in clinical care, has come the observation and appreciation of the fact that many ASD children, adolescents, and adults have medically relevant health-care issues that may go undetected due to atypical symptom presentation, the inability of the patient to describe or localize discomfort and often due to behavioral issues that can make physical examination challenging. However, many of these medical conditions are treatable, and if and when identified, may improve quality of life for the patient and his/her family and may broaden our understanding of the phenotypic expression of ASD, leading ultimately to a better defined genotypic sub-typing of individuals on the spectrum.