Low levels of folate in the brain and spinal cord have been found in many children with autism. Often these low cerebral levels of folate exist despite normal levels of folate being found in the rest of the body. A 2005 case report describes such a situation. The report was published in an article titled Cerebral Folate Deficiency with Developmental Delay, Autism, and Response to Folinic Acid.
The case report is of a 6-year-old girl who had a developmental delay and autism. She also showed psychomotor regression, seizures, and mental retardation. These conditions were found in connection with low levels of cerebral 5-methyltetrahydrofolate (5-MTHF) despite folate and vitamin B12 levels being normal in the other areas of her body. Since levels of 5-MTHF and vitamin B12 were normal in all areas except the brain, it was assumed that she was experiencing cerebral folate deficiency.
The child received treatment with folinic acid and was re-evaluated at 3 months. Labs showed that cerebral levels of 5-MTHF had corrected during that time period. It was found that her motor skills and seizures improved significantly. However, areas of communication and socialization continued to be severely impaired and represented more classical autism spectrum disorder symptoms. Her cognitive abilities also continued to be severely impaired.
The authors state that this case represents a situation where poor transport of folate into the cerebral spinal fluid likely played a key role in some of this individual’s symptoms. All attempts to identify the cause of the poor transport did not result in finding the source of the folate deficiency. However, the authors state that the improvements seen in some symptoms and lab values with folinic acid treatment suggest that folinic acid may be very beneficial in certain types of autism and developmental delays.
The case report was published on March 22, 2005 in Neurology.
- View PubMed Research Abstract for Cerebral Folate Deficiency with Developmental Delay, Autism, and Response to Folinic Acid
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