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Question Date: 13/10/2023

Question: A 9 year old boy was brought to a neurologist by his parents, who noticed that the child preferred to stay alone in his own world, would not make eye contact with people, would do stereotypic limb movements, he was resistant to change and wouldnt mingle with his friends. His developmental history was normal and examination did not reveal any dysmorphic features. His neurological examination was normal. Neurologist diagnosed him as autism spectrum disorder<br><br>Which is the next test he is most likely to order?

Options:

• Video EEG
• MRI Brain Plain and contrast
• Plasma amino acids and urine organic acid
• Chromosomal microarray

Correct Answer: Chromosomal microarray

Explaination: The American college of medical genetics recommends routine genetic testing for all children with ASD. Neuroimaging is not indicated unless focal deficits or history suggestive of cortical malformations is acquired. EEG is only indicated if developmental regression or seizures are present.

Reference: Jeste, S. S. Neurodevelopmental Behavioral and Cognitive Disorders. CONTINUUM Lifelong Learning in Neurology 21, 690 (2015).