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

Bianca M L SteltenOlivier BonnotHidde H HuidekoperFrancjan J van SpronsenPeter M van HasseltLeo A J KluijtmansRon A WeversAad Verrips

Published in: Journal of inherited metabolic disease (2017)

We 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.

Keyphrases

autism spectrum disorder
intellectual disability
klebsiella pneumoniae
attention deficit hyperactivity disorder
machine learning
deep learning
escherichia coli
multidrug resistant
irritable bowel syndrome
replacement therapy
combination therapy
working memory
smoking cessation