Welcome to the eleventh in our special series sharing insights and recent research from the MEDMAPS 2023 Spring Conference attended by Dr. Potter. MAPS stands for Medical Academy for Pediatric Special Needs and arose from the original Defeat Autism Now organization initially serving parents and providers caring for children with autism spectrum disorder). This Spring Conference focused not only on autism research but on Lyme and other infections including COVID’s effects on children. Come back in the coming weeks to read more about what I learned at the conference so that Sanctuary can provide cutting edge care to your precious little ones.
As we watch the rising prevalence of neurodevelopmental disorders (as noted by the Centers for Disease Control and Prevention) along with other pediatric neurologic conditions, we are forced to keep asking why this is happening. A small number of genetic conditions have been discovered but these account for a limited number of cases and offer little in terms of treatment. Various lines of research point towards a variety of potential pathways deserving further research. A study by Brister et al in Metabolites April 2022 Open Access journal built on prior research and evaluated cerebrospinal fluid metabolites looking for further clues to the etiology of autism in hopes of finding therapies.
Up to 2% of children are affected by autism, and a significant number also suffer from other developmental disorders and epilepsy. Clues to the etiologic pathways have come from associations between autism spectrum disorder and a few genetic conditions like Rett syndrome and Down syndrome. This has suggested a role for mitochondrial dysfunction as well as oxidative stress. Other research has pointed towards neurotransmitter dysfunction. Some studies suggest nutrient deficiencies like folate, B12, and pyridoxine (B6). A long list of metabolites (chemicals which participate in metabolic pathways as intermediaries or endpoints of metabolism) have been studied and found to explain some aspects of autism’s symptoms.
Before embarking on a description of the article author’s research, they outline a number of prior studies which support their findings. Studies done post-mortem, meaning after the person has died, have demonstrated differences in neurotransmitter metabolism, amino acid handling, mitochondrial function and more. Studies on the blood levels and CSF levels of various parts of the metabolism have shown abnormalities. Urine markers have also show patterns in these areas. Abnormalities in methylation, the one-carbon cycle, are commonly found in these studies. However, no one pattern or abnormality explains all autism cases. Instead, many different roads lead to autism if these studies are truly indicative of the etiologies possible.
While the peripheral samples of blood and urine or even saliva are helpful, we cannot be sure that they reflect abnormalities inside the brain where it really matters. With these past studies in mind and this need for studying biochemical changes inside the brain, these researchers designed a study to compare metabolic profiles of CSF in 3 groups, Autism spectrum disorder, Epilepsy, and developmental disorders. These three groups offered an opportunity to interact with children who had a diagnosed brain abnormality while searching for patterns which differed between the groups.
With complex processing of a long list of metabolites, the authors discerned a few patterns which separated one group of these children from others groups. For the autism spectrum disorder group, the major abnormalities included problems with adenine, cysteine and dodecanoic acid. With Adenine playing a role in the Cell Danger Response, this chemical makes sense as a potential factor in autism which appears related to inflammation. Cysteine abnormalities likely arise from the high frequency of abnormalities in the one carbon methylation cycle which involves folate, B12, B6, glutathione, and transulfuration. The dodecanoic acid may arise from the common occurrence of carnitine insufficiency in autism patients which causes a buildup of this fatty acid derived from coconut oil.
Abnormalities more common with developmental delay and epilepsy are listed in the paper for further reading. More research should be directed at these metabolic pathways to both understand the etiology and means of intervening in the pathology. Helping patients, especially children, live healthier more abundant lives requires putting great effort into these lines of research. In the meantime, those of us caring for these children already work with these pathways to optimize and move children towards that better life.
Brister D, Werner BA, Gideon G, McCarty PJ, Lane A, Burrows BT, McLees S, Adelson PD, Arango JI, Marsh W, Flores A, Pankratz MT, Ly NH, Flood M, Brown D, Carpentieri D, Jin Y, Gu H, Frye RE. Central Nervous System Metabolism in Autism, Epilepsy and Developmental Delays: A Cerebrospinal Fluid Analysis. Metabolites. 2022; 12(5):371. https://doi.org/10.3390/metabo12050371
Medical Disclaimer: These essays are for educational purposes only. We assume no responsibility for your choice to implement something from these essays. Even if you are a patient of our clinic, you should consult with us before adding therapies. If you are not one of our patients, talk with your health care provider before trying any of these therapies.
Sanctuary Functional Medicine, under the direction of Dr Eric Potter, IFMCP MD, provides functional medicine services to Nashville, Middle Tennessee and beyond. We frequently treat patients from Kentucky, Alabama, Mississippi, Georgia, Ohio, Indiana, and more... offering the hope of healthier more abundant lives to those with chronic illness.