Research Roundup is a monthly newsletter from N of One’s UK-based science writer, Paul Whiteley, PhD. Each month we summarize a few research papers on a variety of topics in one simple, easy-to-read paragraph. It’s our hope that by skimming these each month, you will broaden your knowledge topics currently being explored by researchers and perhaps find information helpful in your journey of navigating a complex autism landscape.
N of One Backed Research: A role for “mitochondrial functional changes, purine metabolism, and purinergic signaling in autism”
New research from Robert Naviaux, MD Ph, partly funded by N of One, has observed some potentially important connections between purine metabolism and mitochondrial functions in relation to autism. Researchers from California examined bloodspot and blood samples provided by 300 participants placed in two groups - newborns and 5-year old children - using a gold-standard analytical method looking for both potential biomarkers for autism and, importantly, how such biomarkers or their parent pathways may or may not change as a function of age. Researchers reported various differences between autistic (and pre-autistic) and non-autistic participants specifically focused on patterns of antioxidant and anti-inflammatory molecules. They also reported that certain biological changes, specifically in relation to the metabolism of purines, seen in samples from non-autistic participants aged 5 years, didn’t seem to be present in the same way in aged matched participants with autism. This implies that alongside looking for ‘snapshot’ biological markers for autism, there may be important details to be discerned in the maturing pathways which such markers are part of, relevant to autism, with appropriate intervention options also implicated.
[Note from J. Rodakis: We believe this important work. For more please see our new Q&A with Dr. Naviaux on our website.]
New research from N of One Scientific Advisory Board Member Dr. Richard Frye on biomarkers of mitochondrial dysfunction in autism
A review of some 200 research papers detailing various issues with mitochondrial functions in relation to autism spectrum disorders (ASD) concluded that there’s lots to see (and screen for) in this area. Research physicians, several of whom have previously reported findings related to the examination of the ‘powerhouse of the cell’ in autism, trawled through the various science on this topic. Alongside recording multiple genetic issues related to mitochondria, they also reported on several functional biomarkers as showing unusual results; all of which are fairly easily screened for, and some which may also be responsive to various interventions. Of particular note, were findings related to lactate and pyruvate and the “lactate-to-pyruvate ratio” as being unusual, with additional findings showing carnitine and the acyl-carnitines to also be potentially useful markers for screening and onwards intervention. Authors also outlined “a diagnostic approach to identify mitochondrial dysfunction in ASD; to aid in bench-to-bedside strategies. Further studies are required looking at a role for mitochondria in autism (how, who, what effects) and how some treatments for mitochondrial issues can seemingly impact on both biology and behavior.
[Note from J. Rodakis: Mitochondrial function (metabolism) has been one of N of One’s core focus areas since our inception as we think it has been understudied and represents an area with the potential for a major breakthrough, e.g., suramin. We have been honored to work with Drs. Frye and Naviaux in this area]
What might happen to depressive symptoms in autism during childhood and adolescence? Probably not what you think…
The age profile of depressive symptoms appears to be different in children with ASD v. Typically Developing (TD) according to researcher based at Vanderbilt University Medical Center, USA. “In the ASD group, elevated depressive scores first occurred in early adolescence and then decreased during middle adolescence and puberty, whereas the TD [typically developing] group showed the opposite trend with an increase in depression symptoms with advancing development.” These intriguing findings were seen looking at the course of depressive symptoms in a small group of young people diagnosed with autism compared with non-autistic controls. Relying on physician examinations (to stage puberty) and responses to a self-report questionnaire asking about depressive symptoms over a 4-year period, authors concluded that different trajectories were apparent across the groups. Given how important depression can be, both in the context of autism and under other conditions, these are important findings crying out for further replicative work.
Cognitive inflexibility and autism: a role for immune functions?
Researchers at Albert Einstein College of Medicine recently explored connections between immune functions and the trait of "cognitive inflexibility" - defined as “cannot easily transition from one thought or behavior to another, and often become stuck in ritualistic or repetitive patterns of behavior” which is commonly observed in ASD. Various significant correlations (associations) were observed, particularly in respect of pro-inflammatory immune markers potentially indicating some sort of relationship between inflammation and behavior. Such a connection is not unprecedented; following other independent studies that have found similar issues. Set within the idea that around 10-15% of the cells of the brain are immune cells, such work points to an intricate connection between brain, behavior and immune system functions, with more study required.
Autism incidence (and prevalence) in California 1990-2018
A recent paper from researchers at the University of California analyzing data from California (CA), USA concluded that the rise in cases of, particularly children, being diagnosed with autism is evident over a nearly 30 year period. That also the rise is seen in incidence (number of newly diagnosed cases within a particular time period) as well as prevalence (frequency of autism in a particular population during a particular time period) is a notable finding. Drawing on data derived from the California Department of Developmental Services (DDS), a detailed resource that counts autism and other developmental disorders and provides appropriate services for those meeting key eligibility criteria, authors reported their findings. A primary observation was that: “From 1990 to 2018, for each birth year the cumulative incidence of ASD by 4 and 8 years of age in CA increased while the diagnosis age decreased.” The data show that the cumulative incidence of autism in boys who were diagnosed at 4 years of age jumped from 0.09% in 1990 to 2.94% in 2018, with similar increases also seen in girls. Such figures have massive repercussions, not least on the availability of education and related services both in childhood and into adulthood. The focus on incidence is also important for discussions about what might be causing the massive increase in cases of autism being witnessed globally.
Comments