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This paper aims to describe the way in which autism spectrum disorder (ASD) is identified, defined and diagnosed; and how changes in the conceptualisation and understanding of autism have impacted on clinical practice and research findings. Specific issues relating to the nature of Asperger syndrome and the profile of females with ASD are discussed. Finally, the apparent increase over time in the incidence of autism is considered.

The paper is a non‐systematic review of the current literature relating to the diagnosis and epidemiology of autism.

Despite its diverse presentation and complex aetiology, the autism spectrum is increasingly well understood amongst professionals and the general public. Diagnostic criteria are revised periodically and new versions of the formal definitions are due to be published soon. The prevalence of ASD appears to be in the region of 1 per cent. There is a clear perception that the true incidence of autism is on the increase and, despite several well‐conducted epidemiological studies, it remains impossible to confirm or refute this notion.

Diagnosis in clinical practice should involve some reference to the formal criteria, the use of standardised diagnostic instruments and should ideally take place within a multi‐disciplinary team setting.

This paper provides an up‐to‐date review of current diagnostic practice for all professionals working with children and adults with ASD.