Identification and Diagnosis of Autism Spectrum Disorders: An Update

Greg Pasco


Pediatr Health. 2010;4(1):107-114. 

In This Article

Abstract and Introduction


Over the past two decades knowledge of and interest in autism has increased dramatically amongst both medical professionals and the wider public, and the relatively heterogeneous nature of the autism spectrum has become widely accepted. The expansion of the concept of the autism spectrum and the consequent rise in the number of people diagnosed with autism has led to controversy as to whether the true incidence of autism is on the increase or whether better diagnostic practice means that previously unidentified cases are no longer missed. Whereas autism is predominantly understood in dimensional terms today, the most authoritative definitions of autism and the diagnostic instruments used clinically and in research are still linked to a more categorical framework. Recently, there has been much interest in the early identification and diagnosis of autism, although the utility of universal early screening for autism spectrum disorders has not yet been demonstrated.


Autism is a heterogeneous neurodevelopmental disorder with a complex genetic etiology.[1] Despite strong evidence for the importance of susceptibility genes, the genetic basis of autism has yet to be identified.[2] Interest in autism has increased enormously in recent years and awareness and knowledge of autism spectrum disorders (ASDs) have developed within public, professional, media and political domains.[3] Whilst the expanding concept of the autism spectrum has been widely accepted, there has been much controversy relating to the perception that the incidence of autism is increasing.[2] This review considers the way in which ASDs are currently defined and diagnosed, the availability of screening tools and the evidence relating to the view that the incidence of autism is on the increase.


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