Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis

ConclusionsWe conclude that ASD is an early and probably underestimated frequent feature in CTX. Metabolic screening for CTX should be performed in patients with ASD when accompanied by diarrhea, intellectual disability, juvenile cataract, and/or neurological involvement. Early recognition allows for earlier initiation of specific treatment and will improve clinical outcome. Our results add CTX to the list of treatable IEMs associated with ASD.
Source: Journal of Inherited Metabolic Disease - Category: Internal Medicine Source Type: research