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 NICE CG128.
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 NICE CG128.
Additional investigations may include hearing and vision assessments to rule out sensory impairments that could mimic or co-occur with autism NICE CG128.