Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism

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). In a prospective multicenter study, 443 chil...

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Bibliographic Details
Published in:Pediatrics (Evanston) 2016-01, Vol.137 (1), p.1
Main Authors: Schulze, Andreas, Bauman, Margaret, Tsai, Anne Chun-Hui, Reynolds, Ann, Roberts, Wendy, Anagnostou, Evdokia, Cameron, Jessie, Nozzolillo, Alixandra A, Chen, Shiyi, Kyriakopoulou, Lianna, Scherer, Stephen W, Loh, Alvin
Format: Article
Language:English
Subjects:
Adolescent
Autism
Autistic Disorder - complications
Care and treatment
Child
Child, Preschool
Children
Children & youth
Chromatography
Creatine - deficiency
Deficiency diseases
Deficiency Diseases - complications
Deficiency Diseases - epidemiology
Female
Health aspects
Humans
Influence
Male
Mass spectrometry
Metabolites
Organic chemicals
Pediatrics
Pervasive developmental disorders
Prevalence
Prospective Studies
Syndrome
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Summary: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). 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. 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. 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.
ISSN:0031-4005
1098-4275
DOI:10.1542/peds.2015-2672