The search for autism biomarkers continues...
Finding measurable, reliable and universally applicable biomarkers for ASD represents the holy grail of autism research. Unfortunately, despite considerable resources being ploughed into such a quest, there are no biomarkers that currently fit the bill according to new research from a collaborative group of researchers. The researchers reviewed over 5000 scientific publications looking at nearly 1000 potential biomarkers. As a consequence of considerable differences in the cohorts being studied and what sort of techniques were used to look for potential biomarkers, their conclusion is that nothing has yet crossed the threshold to be called an autism biomarker. The authors do provide various hints and tips to potentially remedy the situation, not least the use of ‘big data’ where samples from thousands and thousands of people are screened for possible candidate biomarkers. Additional changes to the way biomarker research is conducted might also yield candidates; taking into account the concept of ‘endophenotypes’ and greater acceptance that autism is potentially better explained as a plural concept: the autisms.
[Note from J. Rodakis: N of One is a seed investor in BioRosa technologies, a start-up aiming to develop the first blood-based autism diagnostic.]
A third of children with early-onset psychosis were also diagnosed with ASD
Recent collaborative research out of the US looking at the rates of deleterious copy number variants (CNVs) - a type of variation in the genome - in cases of childhood early-onset psychosis, provided an important finding: over a third of children with early-onset psychosis were also diagnosed with an ASD. The accompanying editorial to the paper offers a comprehensive overview of the study, talking about shared genetic risk between those with early-onset psychosis and ASD yet with diverse behavioral manifestations. That such a large group of children with early-onset psychosis (N=137) were included for study in what is an extremely rare condition was described as “a massive achievement”. The overlap between early-onset psychosis and ASD is deserving of greater study. While moves to disassociate ASD from conditions manifesting psychosis such as schizophrenia go back several decades, there is renewed interest in the connections in recent times not least because of the enhanced risk of progression to schizophrenia following a diagnosis of ASD.
Sulforaphane still on the menu for autism?
Sulforaphane, a sulphur-rich component of various vegetables including broccoli sprouts, may still have a place on the autism research intervention menu, according to new collaborative research from the US and China. The caveat, however, is that more might need to be done to isolate those individuals or subgroups on the autism spectrum who show most benefit from supplementation. Detailing the results of a large randomized-controlled trial where both clinician and caregiver viewpoints were taken, researchers report ‘green shoots’ following supplementation particularly on clinician scores and for those participants over 10 years of age. Several methodological issues (e.g. dropout rates) limit the reach of the results but add to other previous studies of this compound.
[Note from J. Rodakis: The Swiss autism-focused biotech company, Stalicla, has recently licensed a novel form of sulforaphane for clinical trials.]
Nutritional supplementation kinda works for some autism
[Note: Paul Whiteley is co-author of this paper but has no financial interest in ANRC]
Nutritional supplements are routinely used by individuals with autism. In this project 160 people who used a specific nutritional supplement were asked what effect it had on the signs and symptoms of autism. The results were favorable with 73% of participants rating the Overall Benefit as Moderate, Good, or Great. This study was open-label (meaning no placebo) and therefore must be treated with caution, but mirrored similar favorable results seen in previous placebo-controlled clinical trial results of a similar preparation. Additionally the respondents reported an overall good safety profile. Researchers discussed the limitations of their open-trial and the requirement for further controlled study. The science amassed on nutritional supplementation and autism is significant but further work on screening to determine who may benefit from such treatment is needed
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