Maternal periconceptional folic acid intake and risk of autism spectrum disorders and developmental delay in the CHARGE (CHildhood Autism Risks from Genetics and Environment) case-control study - PubMed
Maternal periconceptional folic acid intake and risk of autism spectrum disorders and developmental delay in the CHARGE (CHildhood Autism Risks from Genetics and Environment) case-control study
Rebecca J Schmidt et al. Am J Clin Nutr. 2012 Jul.
Abstract
Background: Periconceptional folate is essential for proper neurodevelopment.
Objective: Maternal folic acid intake was examined in relation to the risk of autism spectrum disorder (ASD) and developmental delay (DD).
Design: Families enrolled in the CHARGE (CHildhood Autism Risks from Genetics and Environment) Study from 2003 to 2009 were included if their child had a diagnosis of ASD (n = 429), DD (n = 130), or typical development (TD; n = 278) confirmed at the University of California Davis Medical Investigation of Neurodevelopmental Disorders Institute by using standardized clinical assessments. Average daily folic acid was quantified for each mother on the basis of dose, brands, and intake frequency of vitamins, supplements, and breakfast cereals reported through structured telephone interviews.
Results: Mean (±SEM) folic acid intake was significantly greater for mothers of TD children than for mothers of children with ASD in the first month of pregnancy (P1; 779.0 ± 36.1 and 655.0 ± 28.7 μg, respectively; P < 0.01). A mean daily folic acid intake of ≥600 μg (compared with <600 μg) during P1 was associated with reduced ASD risk (adjusted OR: 0.62; 95% CI: 0.42, 0.92; P = 0.02), and risk estimates decreased with increased folic acid (P-trend = 0.001). The association between folic acid and reduced ASD risk was strongest for mothers and children with MTHFR 677 C>T variant genotypes. A trend toward an association between lower maternal folic acid intake during the 3 mo before pregnancy and DD was observed, but not after adjustment for confounders.
Conclusions: Periconceptional folic acid may reduce ASD risk in those with inefficient folate metabolism. The replication of these findings and investigations of mechanisms involved are warranted.
Figures

Mean (±SEM) maternal folic acid intake by pregnancy month for mothers of typically developing children and mothers of children with autism spectrum disorder or developmental delay. Maternal folic acid intake (μg/d) represents total intake reported from vitamins, supplements, and cereal. *Two-sided P < 0.01, Wilcoxon 2-sample test. B, month before pregnancy; P, month of pregnancy.

ORs (95% CIs) for associations between mean maternal daily folic acid intake (≥600 μg compared with <600 μg) during the first month of pregnancy and autism spectrum disorder by maternal and child MTHFR genotype. ORs were adjusted for maternal educational level and child's birth year. Categories of folic acid intake were created on the basis of the recommended intake during pregnancy (600 μg/d). Analyses were based on 272 children with autism spectrum disorder and 275 of their mothers, and 154 children with typical development and 163 of their mothers with MTHFR 677 genotype and folic acid intake data. The frequencies of participants in each category of folic acid intake and MTHFR 677 genotype are presented in Supplemental Table 1 under “Supplemental data” in the online issue.
Similar articles
-
Schmidt RJ, Goodrich AJ, Delwiche L, Hansen RL, Simpson CL, Tancredi D, Volk HE. Schmidt RJ, et al. Epidemiology. 2024 Jul 1;35(4):527-541. doi: 10.1097/EDE.0000000000001750. Epub 2024 Jun 24. Epidemiology. 2024. PMID: 38912713
-
Schmidt RJ, Iosif AM, Guerrero Angel E, Ozonoff S. Schmidt RJ, et al. JAMA Psychiatry. 2019 Apr 1;76(4):391-398. doi: 10.1001/jamapsychiatry.2018.3901. JAMA Psychiatry. 2019. PMID: 30810722 Free PMC article.
-
Goodrich AJ, Volk HE, Tancredi DJ, McConnell R, Lurmann FW, Hansen RL, Schmidt RJ. Goodrich AJ, et al. Autism Res. 2018 Jan;11(1):69-80. doi: 10.1002/aur.1885. Epub 2017 Nov 9. Autism Res. 2018. PMID: 29120534 Free PMC article.
-
Folic acid and autism: What do we know?
Castro K, Klein Lda S, Baronio D, Gottfried C, Riesgo R, Perry IS. Castro K, et al. Nutr Neurosci. 2016 Sep;19(7):310-7. doi: 10.1179/1476830514Y.0000000142. Epub 2016 Mar 1. Nutr Neurosci. 2016. PMID: 25087906 Review.
-
DeVilbiss EA, Gardner RM, Newschaffer CJ, Lee BK. DeVilbiss EA, et al. Br J Nutr. 2015 Sep 14;114(5):663-72. doi: 10.1017/S0007114515002470. Epub 2015 Aug 5. Br J Nutr. 2015. PMID: 26243379 Review.
Cited by
-
Sun C, Zou M, Zhao D, Xia W, Wu L. Sun C, et al. Nutrients. 2016 Jun 7;8(6):337. doi: 10.3390/nu8060337. Nutrients. 2016. PMID: 27338456 Free PMC article. Clinical Trial.
-
Chen S, Alhassen W, Yoshimura R, De Silva A, Abbott GW, Baldi P, Alachkar A. Chen S, et al. Commun Biol. 2020 Jul 30;3(1):409. doi: 10.1038/s42003-020-01124-8. Commun Biol. 2020. PMID: 32732995 Free PMC article.
-
Jiang Y, Guo C, Kuang M, Lin L, Xu G, Pan N, Weng X, Jing J, Shi L, Yi Q, Wang X. Jiang Y, et al. Front Public Health. 2024 Jan 17;12:1321046. doi: 10.3389/fpubh.2024.1321046. eCollection 2024. Front Public Health. 2024. PMID: 38299071 Free PMC article.
-
Cohort-guided insights into gene-environment interactions in autism spectrum disorders.
Lipkin WI, Bresnahan M, Susser E. Lipkin WI, et al. Nat Rev Neurol. 2023 Feb;19(2):118-125. doi: 10.1038/s41582-022-00764-0. Epub 2023 Jan 16. Nat Rev Neurol. 2023. PMID: 36646930 Free PMC article. Review.
-
Zhu Y, Mordaunt CE, Yasui DH, Marathe R, Coulson RL, Dunaway KW, Jianu JM, Walker CK, Ozonoff S, Hertz-Picciotto I, Schmidt RJ, LaSalle JM. Zhu Y, et al. Hum Mol Genet. 2019 Aug 15;28(16):2659-2674. doi: 10.1093/hmg/ddz084. Hum Mol Genet. 2019. PMID: 31009952 Free PMC article.
References
-
- Greenblatt JM, Huffman LC, Reiss AL. Folic acid in neurodevelopment and child psychiatry. Prog Neuropsychopharmacol Biol Psychiatry 1994;18:647–60 - PubMed
-
- Medical Research Council Vitamin Study Research Group Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet 1991;338:131–7 - PubMed
-
- Centers for Disease Control and Prevention Recommendations for the use of folic acid to reduce the number of cases of spina bifida and other neural tube defects. MMWR Morb Mortal Wkly Rep 1992;41(RR-14):1–7 - PubMed
-
- Henshaw SK. Unintended pregnancy in the United States. Fam Plann Perspect 1998;30:24–9, 46 - PubMed
-
- US Food and Drug Administration Food standards: amendment of standards of identity for enriched grain products to require addition of folic acid. Fed Regist 1996;61:8781–97
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Medical