Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism
Schulze A, Bauman M, Tsai AC, Reynolds A, Roberts W, Anagnostou E, Cameron J, Nozzolillo AA, Chen S, Kyriakopoulou L, Scherer SW, Loh A
Pediatrics · 14 citations
How it was studied
- Design
- Cohort study (indexed by PubMed)
- Studied in
- People
- Main outcome
- Clinical events such as disease or death
Who paid for it
- Funding
- Independent funding
- Government
- U.S. Public Health Service
- Government
- PHS HHS
- Grants
- U.S. Public Health Service (UA3 MC11054)
Based on 2 listed funder(s).
Publication
- Published
- 2015-12-19 · Pediatrics · vol. 137 · issue 1
- Publisher
- American Academy of Pediatrics
- Cited
- 27 citations · more than 84% of similar papers · 1.8× the field average
- References
- 41 works
- Access
- Paywalled
- Research areas
- Muscle metabolism and nutrition · Metabolism and Genetic Disorders · Autism Spectrum Disorder Research
- Keywords
- Creatine, Medicine, Autism, Autism spectrum disorder, Confidence interval, Urine, Pediatrics, Internal medicine, Creatinine, Psychiatry
- MeSH
- humans, deficiency diseases, syndrome, creatine, prevalence, prospective studies, autistic disorder, adolescent, child, child, preschool, female, male
12 authors
From CA, US
- Andreas Schulze · correspondingUniversity of Toronto; Hospital for Sick Children
- Margaret L. BaumanBoston University; Massachusetts General Hospital; Center for Autism and Related Disorders
- Anne Chun-Hui TsaiOregon Health & Science University; University of Colorado Denver
- Ann ReynoldsUniversity of Colorado Denver
- Wendy RobertsUniversity of Toronto; Holland Bloorview Kids Rehabilitation Hospital
- Evdokia A. AnagnostouUniversity of Toronto; Holland Bloorview Kids Rehabilitation Hospital
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.
Abstract via Europe PMC. Copyright remains with the authors or publisher.
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