Prenatal Folic Acid Supplementation Shows Protective Effect Against Autism

Prenatal folic acid supplementation shows protective effect against autism

Higher vitamin D levels strongly associated with reduced death from all causes over nearly a decade

Friday, March 15, 2013. The February 13, 2013 issue of the Journal of the American Medical Association reported the findings of researchers at the Norwegian Institute of Public Health of a protective benefit for supplementing with folic acid early in pregnancy against the risk of giving birth to a child with autism. The vitamin is routinely recommended to women who are pregnant or trying to conceive, to help prevent neural tube defects in their offspring.

The study included 85,176 children who were born between 2002 and 2008 who were followed through March, 2012. Mothers were recruited at 18 weeks of gestation and queried concerning their intake of vitamins, minerals and other supplements. Over the follow-up period, 114 children were diagnosed with autistic disorder, 56 with Asperger syndrome, and 100 with pervasive developmental disorder—not otherwise specified, all of which fall under the umbrella of autism spectrum disorder.

Mothers who consumed folic acid supplements during the period from four weeks prior to conception to their eighth week of pregnancy had a 40 percent lower risk of giving birth to a child diagnosed with autistic disorder in comparison with mothers who did not use the supplements. No association with Asperger syndrome or pervasive developmental disorder was noted, and no association was found for folic acid use during mid-pregnancy. "It appears that the crucial time interval is from four weeks before conception to eight weeks into pregnancy," stated lead researcher Pål Surén, MD, who is a doctoral fellow at the Norwegian Institute of Public Health.

"The findings show that a measure already used here in Norway, one which is simple, inexpensive and without any known side effects among pregnant women, can prevent autism," he remarked. "Previous studies we have carried out have shown that folic acid may have a similar effect on other developmental disorders as well."

"It will be a tremendous breakthrough if it turns out that folic acid also prevents other developmental disorders."

While over 70 percent of the mothers in the study reported supplementing with folic acid during their ninth through twelfth week of pregnancy, just one third were using the supplements before they conceived—a period during which an adequate supply of folic acid is important for the prevention of birth defects.

"We know that there is a genetic component to the body's ability to use folate, so it is possible that some mothers are more prone to folic acid deficiency than others," Dr Surén added.

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Branched chain amino acids could help one type of autism

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In a report that appeared on September 6, 2012 in the journal Science, researchers led by Joseph G. Gleeson, MD of the University of California, San Diego report that the administration of branched chain amino acids, which include isoleucine, leucine and valine, could help treat a type of autism accompanied by epilepsy.

The article describes the identification of mutations in the gene BCKDK (branched chain ketoacid dehydrogenase kinase) in families with autism, epilepsy, and intellectual disability. Individuals with the mutations have, among other characteristics, reductions in plasma branched chain amino acids caused by an acceleration in the metabolism of these compounds. In mice in which the gene BCKDK was mutated, neurobehavioral deficits were corrected by branched chain amino acid supplementation.

"Studying the animals was key to our discovery," remarked first author Gaia Novarino, PhD, who is a staff scientist in Dr Gleeson's laboratory. "We found that the mice displayed a condition very similar to our patients, and also had spontaneous epileptic seizures, just like our patients. Once we found that we could treat the condition in mice, the pressing question was whether we could effectively treat our patients."

"It was very surprising to find mutations in a potentially treatable metabolic pathway specific for autism," said Dr Gleeson, who is a professor in the UCSD Department of Neurosciences and a Howard Hughes Medical Institute investigator. "What was most exciting was that the potential treatment is obvious and simple: Just give affected patients the naturally occurring amino acids their bodies lack."

"We think this work will establish a basis for future screening of all patients with autism and/or epilepsy for this or related genetic mutations, which could be an early predictor of the disease," he added.

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