A 20-month-old child uses no words (single words expected by 12 months), does not point, makes no eye contact, and does not respond to his name being called. He lines up toys repetitively. The most important first investigation is:

• A EEG to rule out Landau-Kleffner syndrome
• B MRI brain to look for structural abnormality
• C Chromosomal microarray
• D Formal hearing assessment (ABR/BERA) ✓

Explanation

In any child with speech delay and absent pointing, formal hearing evaluation is the mandatory first step to exclude sensorineural or conductive hearing loss, which is the most common and treatable cause of speech delay. This child's constellation of features is also concerning for autism spectrum disorder, but hearing assessment (ABR/BERA) must precede any ASD diagnostic workup. If hearing is normal, then structured ASD diagnostic tools (M-CHAT, ADOS) and genetic/metabolic investigations are pursued.

Reference: Ghai Essential Pediatrics, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.