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

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.

• Authors: John Shoffner, Barbara Trommer, Audrey Thurm, Cristan Farmer, William A Langley 3rd, Laura Soskey, Aldeboran N Rodriguez, Precilla D'Souza, Sarah J Spence, Keith Hyland, Susan E Swedo
• Journal: Neurology (Neurology) Vol. 86 Issue 24 Pg. 2258-63 (06 14 2016) ISSN: 1526-632X [Electronic] United States
• PMID: 27178705 (Publication Type: Journal Article, Research Support, N.I.H., Intramural, Research Support, U.S. Gov't, Non-P.H.S.)
• Copyright: © 2016 American Academy of Neurology.

Chemical References

• Biomarkers
• Tetrahydrofolates
• Folic Acid
• 5-methyltetrahydrofolate

Topics

• Autistic Disorder (blood, cerebrospinal fluid)
• Biomarkers (blood, cerebrospinal fluid)
• Child
• Child, Preschool
• Folic Acid (blood)
• Follow-Up Studies
• Humans
• Longitudinal Studies
• Neuropsychological Tests
• Severity of Illness Index
• Tetrahydrofolates (cerebrospinal fluid)