Unveiling autism spectrum disorder for the pediatrician

To review the state of the art in autism spectrum disorder (ASD), including its etiologic puzzle, clinical features, pathophysiologic mechanisms, differential diagnosis, and therapeutic management.

A search for papers published over the past 10 years in the databases PubMed-MEDLINE, Cochrane Library, and SCIELO was performed using the following terms: "autism" and "clinical features", "differential diagnosis", "pathophysiology", or "management". The search yielded 3240, 590, 6904, and 5023 papers, respectively. A total of 120 most relevant papers were selected based on their title and abstract content.

The current prevalence of ASD is 1 in every 31 eight-year-old children. A genetic defect is found in 10-20% of individuals with ASD. Environmental risk factors that increase the likelihood of ASD include advanced parental age and maternal health conditions. Epigenetic mechanisms may play a crucial role in the interplay between genetic and environmental factors in the pathogenesis of ASD. In addition to language delay, pediatricians should monitor and screen for several early signs of ASD. Differential diagnosis is complex because several neurodevelopmental conditions show clinical features that overlap with ASD. Medications may be used to treat comorbid conditions.

Management is based on a multidisciplinary team, and pediatricians are in a unique position to coordinate this team, given the trustworthy relationship they have with patients and their families.