Early Diagnosis of Autism Spectrum Disorder: What the Pediatricians Should Know

Autism is a spectrum disorder marked by considerable heterogeneity and characterized by impairments in the social communication domain along with the presence of restricted and repetitive behaviors or interests. Comprehensive autism evaluation generally consists of assessments by a multidisciplinary team. Having multiple specialists in the evaluation team aids in diagnosis and in chalking out a comprehensive management plan. Diagnosis is generally based on detailed developmental history, clinical judgment, and the use of standardized diagnostic instruments. Differential diagnosis is complicated as many of the mental health and neurodevelopmental conditions that routinely coexist with autism also have some symptoms that overlap with autism. Several barriers are linked to delay in diagnosis including lack of comfort in diagnosing autism by primary care providers, delayed referrals, the inability of parents to raise critical developmental concerns, confusion of autism with other conditions, and health system that is not responsive to the needs of the underserved communities. The etiology of autism spectrum disorder (ASD) is complex and still not completely understood; it involves genetics, neurobiology, and environmental exposures, leading to a diverse presentation of behaviors and symptoms. There is an imperative need to start therapeutic interventions as soon as a diagnosis of autism is suspected rather than wait for a definitive diagnosis. Early diagnosis is vital as timely intervention can lead to better outcomes for children and their families.