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In this review, we provide an overview of what is known about the role of folate in the aetiology of neurodevelopmental disorders; summarise relevant biological, genetic and epigenetic mechanisms; and synthesise the evidence from human observational studies and randomised controlled trials that have examined the relationship between maternal folate and ASD or related traits. Much of the existing literature on this topic is subject to limitations such as potential confounding by healthy behaviours and other dietary factors, and exposure assessed within limited exposure windows. As the existing evidence is inconclusive, further research remains to be conducted in order to verify this hypothesis. Complete assessment of maternal functional folate status through the pre- and peri-conceptional periods requires biological measurement of folate, vitamin B<jats:sub>12<\/jats:sub>and homocysteine and genetic variants involved in one-carbon metabolism and epigenetic mechanisms. In addition to more complete assessment of maternal functional folate status, careful consideration of potential confounding is warranted.<\/jats:p>","DOI":"10.1017\/s0007114515002470","type":"journal-article","created":{"date-parts":[[2015,8,5]],"date-time":"2015-08-05T08:03:01Z","timestamp":1438761781000},"page":"663-672","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":79,"title":["Maternal folate status as a risk factor for autism spectrum disorders: a review of existing evidence"],"prefix":"10.1017","volume":"114","author":[{"given":"Elizabeth A.","family":"DeVilbiss","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renee M.","family":"Gardner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Craig J.","family":"Newschaffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian K.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2015,8,5]]},"reference":[{"key":"S0007114515002470_ref72","doi-asserted-by":"publisher","DOI":"10.3945\/jn.108.096404"},{"key":"S0007114515002470_ref73","doi-asserted-by":"crossref","first-page":"7801","DOI":"10.1016\/S0021-9258(19)43903-3","article-title":"Purification and properties of mitochondrial serine hydroxymethyltransferase","volume":"255","author":"Schirch","year":"1980","journal-title":"J Biol Chem"},{"key":"S0007114515002470_ref51","doi-asserted-by":"publisher","DOI":"10.1093\/aje\/kws433"},{"key":"S0007114515002470_ref43","unstructured":"Division of Birth Defects \u2013 National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention (2013) Autism spectrum disorders data & statistics. http:\/\/www.cdc.gov\/ncbddd\/autism\/documents\/asd_prevalence_table_2013.pdf (accessed 15 October 2013)."},{"key":"S0007114515002470_ref36","doi-asserted-by":"publisher","DOI":"10.1093\/eurpub\/cku126"},{"key":"S0007114515002470_ref35","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-014-2114-x"},{"key":"S0007114515002470_ref58","doi-asserted-by":"publisher","DOI":"10.1093\/ajcn\/43.2.258"},{"key":"S0007114515002470_ref34","doi-asserted-by":"publisher","DOI":"10.1016\/j.neubiorev.2014.04.007"},{"key":"S0007114515002470_ref33","doi-asserted-by":"publisher","DOI":"10.1016\/0278-5846(94)90074-4"},{"key":"S0007114515002470_ref20","doi-asserted-by":"publisher","DOI":"10.1096\/fj.05-4707com"},{"key":"S0007114515002470_ref46","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23024"},{"key":"S0007114515002470_ref45","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0070733"},{"key":"S0007114515002470_ref28","first-page":"216","article-title":"The methylation, neurotransmitter, and antioxidant connections between folate and depression","volume":"13","author":"Miller","year":"2008","journal-title":"Altern Med Rev"},{"key":"S0007114515002470_ref37","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2011.1433"},{"key":"S0007114515002470_ref54","doi-asserted-by":"publisher","DOI":"10.1097\/OGX.0b013e31822edfbb"},{"key":"S0007114515002470_ref29","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199903)45:3<287::AID-ANA3>3.0.CO;2-9"},{"key":"S0007114515002470_ref26","doi-asserted-by":"publisher","DOI":"10.1002\/aur.1300"},{"key":"S0007114515002470_ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2011.06.002"},{"key":"S0007114515002470_ref70","first-page":"106","article-title":"Association of MTHFR gene variants with autism","volume":"9","author":"Boris","year":"2004","journal-title":"J Am Physicians Surg"},{"key":"S0007114515002470_ref40","doi-asserted-by":"publisher","DOI":"10.3945\/jn.109.118075"},{"key":"S0007114515002470_ref56","first-page":"93","article-title":"Folic acid supplementation practice in Europe \u2013 plenary lecture","volume":"15\/56","author":"Pietruszka","year":"2006","journal-title":"Pol J Food Nutr Sci"},{"key":"S0007114515002470_ref53","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7610.2009.02182.x"},{"key":"S0007114515002470_ref31","doi-asserted-by":"publisher","DOI":"10.1016\/S0166-2236(03)00032-8"},{"key":"S0007114515002470_ref27","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.08.005"},{"key":"S0007114515002470_ref4","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2014.4144"},{"key":"S0007114515002470_ref22","doi-asserted-by":"publisher","DOI":"10.1016\/j.expneurol.2009.12.007"},{"key":"S0007114515002470_ref11","doi-asserted-by":"publisher","DOI":"10.1093\/ilar.53.3-4.322"},{"key":"S0007114515002470_ref64","doi-asserted-by":"publisher","DOI":"10.1086\/651448"},{"key":"S0007114515002470_ref60","unstructured":"Anonymous (1992) Recommendations for the use of folic acid to reduce the number of cases of spina bifida and other neural tube defects. 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