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

Guideline-aligned answer with reasoning, red flags and references. Clinically reviewed by Dr Kola Tytler MBBS CertHE MBA MRCGP.

Posted: 22 August 2025Updated: 22 August 2025 Guideline-Aligned (High Confidence) Clinically Reviewed
Dr Kola Tytler MBBS CertHE MBA MRCGPClinical Lead • iatroX

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 .

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 .

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

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