Mitochondrial dysfunction and Cerebral Folate deficiency (CFD) are to be tested for initially if you are starting with a functional medicine doctor. Especially CFD, if treated at an early age has proved to reverse autism in some children.
Although older children when treated for it have also made significant progress. It is also found that CFD if left untreated might cause seizures starting especially around the time of puberty. This is one of the treatments that my kid has immensely benefited from. It could also give some insight into genetic conditions like Rett’s disease if child tests positive for CFD. Once we started treating CFD she started having the intent to communicate and one word communications from 2 weeks. And then phrases in a month and within 3 months she started talking in small sentences and went on to bigger ones and then eventually speech became more natural than scripted.
So now what is mitochondrial dysfunction? Mitochondria are the power houses of the cells in the body. They generate ATP which provides energy for the body. Recent researches have found that a significant number of ASD kids have these mitochondria not working properly. Reasons for it could be multiple and some of it are genetic, environmental toxins, not enough nutrients from diet or any other environmental / lifestyle causes. One of the main symptoms to check for Mito issues – child growing normally and hitting milestones followed by regression or stagnant growth. Other symptoms include being tired all times, W sitting, poor gross and fine motor skills. Note that this should not be confused with mitochondrial disease which is a much more serious condition.
This can be tested for by blood test – metabolic panel or the Organic Acids urine test or Mito-swab test which takes a cheek swab to test for mitochondrial dysfunction. Treatment includes various supplements based on what levels are low in the tests. It is individual to each child but most times include methyl B12, B9, Carnitine, COQ10, ALA and some more supplements. Treating this has given us many gains including improvement in energy levels, motor functions, language and attention.
Folate is an essential nutrient for brain development. The brain has folate receptors. These receptors receive folate from blood and push it to the brain. But our body develops an autoimmune condition where it creates Folate receptor antibodies which prevent the folate receptors from attaching themselves to folate and getting it to the brain. Dairy contains casein which is known to have the proteins which will make the body to create these antibodies. So its a good idea to be dairy free or at the least casein free if CFD is positive. Also many people have the MTHFR gene mutation and it could mean their body could not process synthetic folate – Folic acid. But most of our foods are enriched with this synthetic folate. And also many supplements contain only this form of folate. So not only the kids body is not able to process this type of folate it also blocks the folate receptors in these kids. So instead natural folate – Folinic acid or methyl folate must be given. Usually supplements have lower doses of this. Though at that dose it would help the body in methylation process it would not change anything about getting folate into the brain. Instead it should be at a higher dose so the brain and the receptors are flooded with folate so its able to push in the needed quantity into the brain. This higher dose prescription for folate is called Leucovorin. And higher dose methyl folate as – 5-Mthf. The dosage would be decided based on the weight of the child. Usually it is 2 mg per kg of weight according to research work done by Dr. Richard Frye. How to test for CFD? The only way to find is through a spinal tap which shows the exact folate levels in the brain. But this is a invasive procedure for a small child. There is also a FRAT blood test. This is a blood draw test where the folate levels in blood is used to determine the possibilty of CFD. Though the accuracy of this test is not reliable it could be used as a means to determine if CFD treatment is needed.
Both these conditions are found to affect almost 80% of the ASD population and can make a great difference if treated properly. Most of the MAPS doctors have an good idea about these and test for it early on in the journey.