Book Review: The Environmental and Genetic Causes of Autism
New Information
I found it interesting how the author defined autism as endogenous, environmentally induced, and mixed-cause (Lyons-Weiler, 2016, p. 14). His terms appear to capture the disease in an honest way compared to the current defining terminology, such as infantile, regressive, and isolated autism.
It was interesting to read the prevalence of mitochondrial mutations in those children born to older mothers (Lyons-Weiler, 2016, p. 105). I initially disliked the observational study, which blamed older mothers for their children with autism; however, it is appealing to see once again the same reoccurring molecular underpinnings present in the occurrence of ASD rates in those born to older mothers. This leads to possible treatments that could support mitochondrial function in these children and possibly spare an ASD diagnosis.
There is an interesting section regarding regressive autism, Rett syndrome, and childhood disintegrative disorder (CDD; Lyons-Weiler, 2016, p. 77-78). I had never heard of the diagnosis of CDD before reading this work and was not aware of the overlapping biomarkers that occur between the three diseases.
It was a surprise to read the section on macrophagic myofascitis. I appreciated the connections made between ASD and the condition (Lyons-Weiler, 2016, p. 207).
The sections on oxytocin and serotonin are also critical factors in the understanding the complex pathways in ASD. I will spend more time reading those sections in detail (Lyons-Weiler, 2016, pp. 138-140, 143).
Further Reading
Criticisms
I did not like how the author phenotyped autism based in part by behavioral diagnosis. As a person who has worked on the front line of care I see the primary goal of packaged treatment strategies that should be initially defined by associated factors (mitochondrial dysfunction, cholesterol metabolism, etc.) and further categorized by adverse health risks (gastrointestinal disorder, autoimmune disorder, etc.), which would classify distinct subgroups with a matching case managed treatment protocols. I laughed when I read the author stated, “Trying to place various subtypes of autism into neat categorical boxes had been compared to trying to cleave meatloaf at the joint” (Lyons-Weiler, 2016, p. 79). This is one of my favorite quotes of the text and is an excellent example of the author’s authority of writing with a style that I appreciate. I have spent a considerable amount of time thinking about autism phenotypes and think one must consider what is the outcome best suits the patient’s needs. The patient and provider need a workable classification for coding and treatment, and I believe you need to start by measuring the biomarkers first.
I wish the author had included the reference section at the end of the text. I do not like the need to access the list via the internet, which in some cases is not available to some readers.
Proposed ASD Phenotyping
References
Jacquemont, S., Coe, B., Hersch, M., Duyzend, M., Krumm, N., . . . Eichler, E. (2014). A higher mutational burden in females supports a “female protective model” in neurodevelopmental disorders. The American Journal of Human Genetics. Retrieved from http://www.cell.com/ajhg/pdf/S0002-9297(14)00059-7.pdf
Vegeto, E., Belcredito, S., Etteri, S., Ghisletti, S., Brusadelli, A., . . . Maggi, A. (2003). Estrogen receptor-a mediates the brain anti-inflammatory activity of estradiol. Proceedings of the National Academy of Sciences of the United States of America. Retrieved from http://www.pnas.org/content/100/16/9614.full.pdf
Werling, D., & Geschwind, D. (2013). Sex differences in autism spectrum disorders. Current Opinion in Neurology. Retrieved from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4164392/
Original source: http://autismrawdata.net/blog/book-review-the-environmental-and-genetic-causes-of-autism