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Journal of Pediatric Neurology 2019; 17(06): 199-205
DOI: 10.1055/s-0038-1676633
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Is Metabolic Screening Necessary in Children with Autism Spectrum Disorder? A Mini Review

Maria Gogou
1   Fourth Department of Pediatrics, School of Medicine, Aristotle University of Thessaloniki, General Hospital Papageorgiou, Thessaloniki, Greece
,
Athanasios Evangeliou
1   Fourth Department of Pediatrics, School of Medicine, Aristotle University of Thessaloniki, General Hospital Papageorgiou, Thessaloniki, Greece
› Author Affiliations Funding None.
Further Information

Publication History

21 September 2018

10 November 2018

Publication Date:
21 December 2018 (online)

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Abstract

Autism spectrum disorder is a clinically heterogeneous entity with no known specific cause. A variety of inborn errors of metabolism include autistic-like phenotypes in their clinical manifestations. As targeted therapies for many of these errors exist, a question arises whether a routine metabolic screening in all children with autism should be performed. According to current literature, a metabolic workup should not be considered in children with nonsyndromic autism as a first-line investigation. However, detailed cost–benefit analyses are needed to investigate the benefit of a targeted screening of treatable metabolic errors compared with the total financial burden of autism.

Keywords

autism - inborn errors of metabolism - metabolic screening
 

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