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Neurology. 2016 Jun 14;86(24):2258-63. doi: 10.1212/WNL.0000000000002766. Epub 2016 May 13.

CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autism.

Author information

1
From Medical Neurogenetics (J.S., W.A.L., K.H.); Georgia State University (J.S.), Atlanta; Pediatrics & Developmental Neuroscience Branch (B.T., A.T., C.F., L.S., A.N.R., P.D., S.J.S., S.E.S.), National Institute of Mental Health, National Institutes of Health, Bethesda, MD; State University of New York Downstate Medical Center (B.T.), Brooklyn; and Department of Neurology (S.J.S.), Boston Children's Hospital, MA.
2
From Medical Neurogenetics (J.S., W.A.L., K.H.); Georgia State University (J.S.), Atlanta; Pediatrics & Developmental Neuroscience Branch (B.T., A.T., C.F., L.S., A.N.R., P.D., S.J.S., S.E.S.), National Institute of Mental Health, National Institutes of Health, Bethesda, MD; State University of New York Downstate Medical Center (B.T.), Brooklyn; and Department of Neurology (S.J.S.), Boston Children's Hospital, MA. swedos@mail.nih.gov.

Abstract

OBJECTIVE:

To examine the association between cerebral folate deficiency and autism, this study examined CSF 5-methyltetrahydrofolate (5-MTHF) concentrations in a group of young children with autism, investigated the natural variation in CSF 5-MTHF over time, and assessed the relationship between CSF 5-MTHF and symptoms.

METHODS:

CSF was collected from 67 children with a diagnosis of DSM-IV-TR autistic disorder (age, mean ± SD 43 ± 11 months), with a second CSF sample obtained 1-3 years later on 31 of these subjects (time to follow-up, 30 ± 8 months).

RESULTS:

At time 1, 7% (5/67) of participants had 5-MTHF <40 nmol/L. At follow-up, 23% (7/31) of participants had 5-MTHF <40 nmol/L (only one of whom had been low at time 1). A moderate correlation with a very wide confidence interval (CI) was observed between time 1 and time 2 CSF 5-MTHF measurements (Pearson r[p] = 0.38 [0.04]; 95% CI 0.02-0.64). Neither the CSF 5-MTHF levels nor changes over time correlated with the clinical features of autism.

CONCLUSIONS:

CSF 5-MTHF levels vary significantly over time in an unpredictable fashion and do not show a significant relationship to typical clinical features of autism. Reduced CSF 5-MTHF levels are a nonspecific finding in autism. Our data do not support the use of lumbar puncture for assessment of CSF 5-MTHF in autism.

PMID:
27178705
PMCID:
PMC4909560
DOI:
10.1212/WNL.0000000000002766
[Indexed for MEDLINE]
Free PMC Article

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