Surprisingly Common Findings of Cerebral Folate Autoimmunity in Autism©
February 22, 2011 17 Comments
We have been evaluating autoimmunity to cerebral folate receptors and related transport mechanisms in children with autism. While the results are early and not fully tabulated – we are surprised by frequency of positive cases. Certainly it is more than 50% of the cases we send to Professor Quadros’ laboratory at SUNY- Downstate.
Traditionally, cerebral folate deficiency is thought to present with: mental retardation, motor and gait abnormalities, abnormal movements, low motor tone, developmental delays, speech problems, seizures and often times a small head (microcephaly). These symptoms intersect many of the symptoms observed with cases of autism spectrum disorders (ASD), and particularly in cases of Rett Syndrome (RS is a type of ASD) they are nearly the same and it could easily be confused.
We don’t use is it as a routine biomarker yet, but in the refractory or complicated cases it is an important clue that is largely overlooked in autism.
Unlike the traditional description of cerebral folate deficiency, these cases of autoimmunity to the folate receptors present with significant variability ranging from profoundly effected to only mild changes.
Treatment consists of using 1-2mg/Kg/day of body weight of folinic acid – usually as the prescription medicine: Leucovorin®. However, this does not always result in improvement by itself, and we speculate that some form of immune treatment may needed as well. In support of this concept, researchers have found a milk-free diet downregulates the autoimmunity (makes it less of a problem). This may partially explain why dairy-free diets are helpful for some children with ASD.
Certainly, this is an important area of emerging research which will require more investigation to fully understand. In the meantime we still find it a useful biomarker in an important subset of children with ASD.
Here are some links to learn more about cerebral folate autoimmunity.
Jeff Bradstreet, MD, MD(H), FAAFP (321) 259-7111