Which investigations are recommended for confirming the diagnosis of ASD in a primary care setting?

In a primary care setting, investigations recommended for confirming the diagnosis of autism spectrum disorder include a detailed developmental history, assessment of social and communication skills, and physical examination to identify any associated conditions or differential diagnoses ¹.

Specifically, a physical examination should include looking for skin stigmata of neurofibromatosis or tuberous sclerosis, signs of injury or maltreatment, congenital anomalies, and dysmorphic features ¹.

Additional investigations may include hearing and vision assessments to rule out sensory impairments that could mimic or co-occur with autism ¹.