Autism Spectrum Disorder in Cerebrotendinous Xanthomatosis. (P4.160)

Conclusions:We conclude that ASD can be one of the presenting symptoms of CTX. Metabolic screening for IEM in patients with ASD should be considered on the basis of clinical findings, especially when accompanied by diarrhea, juvenile cataract, mental retardation and/or neurological involvement. Early recognition allows for earlier initiation of specific treatment and will improve outcome. Our results add CTX to the list of IEM associated with ASD.Disclosure: Dr. Stelten has nothing to disclose. Dr. Verrips has received personal compensation for activities with Sigma-Tau Pharmaceuticals, Inc., USA and Sigma-Tau Rare Disease Limited, United Kingdom. Dr. Bonnot has received personal compensation for activities with Actelion and Orphan Europe as a speaker and board member. Dr. Huidekoper has nothing to disclose. Dr. Kluijtmans has nothing to disclose. Dr. Wevers has nothing to disclose.

Source: Neurology - April 17, 2017 Category: Neurology Authors: Stelten, B. M., Verrips, A., Bonnot, O., Huidekoper, H. H., Kluijtmans, L. A., Wevers, R. A. Tags: Child Neurology II Source Type: research