Prevalence of creatine deficiency syndromes in children with nonsyndromic autism

Andreas Schulze, Margaret Bauman, Anne Tsai, Ann Reynolds, Wendy Roberts, Evdokia Anagnostou, Jessie Cameron, Alixandra A. Nozzolillo, Shiyi Chen, Lianna Kyriakopoulou, Stephen W. Scherer, Alvin Loh

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Abstract

BACKGROUND AND OBJECTIVE: Creatine deficiency may play a role in the neurobiology of autism and may represent a treatable cause of autism. The goal of the study was to ascertain the prevalence of creatine deficiency syndromes (CDSs) in children with autism spectrum disorder (ASD). Methods: In a prospective multicenter study, 443 children were investigated after a confirmed diagnosis of ASD. Random spot urine screening for creatine metabolites (creatine, guanidinoacetate, creatinine, and arginine) with liquid chromatography-tandem mass spectrometry and second-tier testing with high-performance liquid chromatography methodology was followed by recall testing in 24-hour urines and confirmatory testing by Sanger-based DNA sequencing of GAMT, GATM, and SLC6A8 genes. Additional diagnostic tests included plasma creatine metabolites and in vivo brain proton magnetic resonance spectroscopy. The creatine metabolites in spot urine in the autism group were compared with 128 healthy controls controlled for age. Results: In 443 subjects with ASD investigated for CDS, we had 0 events (event: 0, 95% confidence interval 0-0.0068), therefore with 95% confidence the prevalence of CDS is .0125) in urine. CONCLUSION Our study revealed a very low prevalence of CDS in children with nonsyndromic ASD and no obvious association between creatine metabolites and autism. Unlike our study population, we expect more frequent CDS among children with severe developmental delay, speech impairment, seizures, and movement disorders in addition to impairments in social communication, restricted interests, and repetitive behaviors.

Original languageEnglish (US)
Article numbere20152672
JournalPediatrics
Volume137
Issue number1
DOIs
Publication statusPublished - Jan 1 2016

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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Schulze, A., Bauman, M., Tsai, A., Reynolds, A., Roberts, W., Anagnostou, E., ... Loh, A. (2016). Prevalence of creatine deficiency syndromes in children with nonsyndromic autism. Pediatrics, 137(1), [e20152672]. https://doi.org/10.1542/peds.2015-2672