title: CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autism.
abstract: 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.
  
  
  
  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).
  
  
  
  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.
  
  
  
  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.
authors.affiliation: 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.
authors.forename: John
authors.initials: J
authors.lastname: Shoffner
authors.affiliation: 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.
authors.forename: Barbara
authors.initials: B
authors.lastname: Trommer
authors.affiliation: 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.
authors.forename: Audrey
authors.initials: A
authors.lastname: Thurm
authors.affiliation: 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.
authors.forename: Cristan
authors.initials: C
authors.lastname: Farmer
authors.affiliation: 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.
authors.forename: William A
authors.initials: WA
authors.lastname: Langley
authors.affiliation: 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.
authors.forename: Laura
authors.initials: L
authors.lastname: Soskey
authors.affiliation: 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.
authors.forename: Aldeboran N
authors.initials: AN
authors.lastname: Rodriguez
authors.affiliation: 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.
authors.forename: Precilla
authors.initials: P
authors.lastname: D'Souza
authors.affiliation: 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.
authors.forename: Sarah J
authors.initials: SJ
authors.lastname: Spence
authors.affiliation: 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.
authors.forename: Keith
authors.initials: K
authors.lastname: Hyland
authors.affiliation: 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.
authors.forename: Susan E
authors.initials: SE
authors.lastname: Swedo
mesh_terms: D001321:Autistic Disorder / Q000097:blood / Q000134:cerebrospinal fluid*; D015415:Biomarkers / Q000097:blood / Q000134:cerebrospinal fluid; D002648:Child; D002675:Child, Preschool; D005492:Folic Acid / Q000097:blood; D005500:Follow-Up Studies; D006801:Humans; D008137:Longitudinal Studies; D009483:Neuropsychological Tests; D012720:Severity of Illness Index; D013763:Tetrahydrofolates / Q000134:cerebrospinal fluid*
chemical_list: D015415:Biomarkers; D013763:Tetrahydrofolates; D005492:Folic Acid; C005984:5-methyltetrahydrofolate