Autism Checklist & Brain Overgrowth: Clinical phenotype assessment that is not as simplex as first thought!


In most recent days, there have been reports of a 1-Year Well-Baby Checklist for evaluation of possible signs of autism. It appears that this checklist, in part, is thought to be an effective way to identify clinical phenotypes within the autism spectrum. Which it really isn't...but - oh well. 

While reading about research by Dr. Eric Courchesne PhD (UC San Diego) and his findings on brain overgrowth, there is reference to Karen Pierce PhD - and her role with regard to clinical phenotype assessment in autism. It appears that Dr. Pierce has founded her clinical phenotype research assessment endeavors upon the 1-Year Well-Baby Checklist.  

If the research doctors are only interested in refining their clinical phenotype assessment of autism to the 1-Year Well-Baby Checklist, they are setting out to identify a lesser portion of those affected with autism; even further, it is the subset that has better long term prognosis (the subset with better long term structural outcome with regard to gene expression?). The autism spectrum majority, who present with autism after 1-year of age are not represented by a clinical phenotype research endeavor that is founded upon results from the 1-Year Well-Baby Checklist.

Hopefully, elucidation in the future might point to the fact that the research team at UC San Diego extends considerations to the full spectrum autism population - as far as clinical phenotype studies and treatments.  

Please see Autism's Five-Minute Checklist: Half-truths to Rote Media 

When I see emphasis placed on research that involves consideration for those who already have better case scenario prognosis I become frustrated. Are the research experts simply setting themselves up for success, while not considering extended research principles that would more necessarily include all clinical phenotypes within the autism spectrum? Yes. I think some of them are. It is no different than when the early behavioral intervention research endeavors only included those with higher IQ and those most likely capable of better functioning. On it's face, when things such as this transpire - the atmosphere gets a little foggy.

The subsets within the autism spectrum have been described in this manner:

  • Regression (n=44%): A loss of previously acquired social, communication or cognitive skills prior to 36 months.
  • Plateau (n=17%): Display of only mild developmental delays until the child experiences a gradual to abrupt developmental halt that restricts further advancement of skills.
  • No Loss and No Plateau (n=39%): Display of early warning signs of autism spectrum disorders without loss or plateau. The subset being identified by the five-minute checklist is the no loss, no plateau group. They are described as experiencing less risk of poor outcome regardless of types of intervention.

About the proposed clinical phenotyping that will transpire: 

From (link)

Equally innovative is Dr. Pierce's extraordinary plan – 1-Year Well-Baby Check-Up Approach – for working with pediatricians throughout San Diego County to detect infants and toddlers at-risk for autism at the earliest age possible. The physicians will make their referrals on the basis of a checklist of behaviors that are similar to those of older children with autism spectrum disorders. The primary goal of this center is to identify brain or other physical differences that might predispose a child to autism. The UCSD Center will collect some of the first comprehensive data sets ever obtained on how the brains of very young children with autism process and respond to information.

Research that utilizes too early to tell labeling is not innovative or comprehensive - at all. The research project would have to extend out towards three years or more to be of true value to the overall autism spectrum.

Even with apprehension that I experience with regard to utilization of the five-minute checklist as foundational to any research endeavor, I am fascinated by other research that the UC San Diego team does involve themselves in - for the full spectrum of autism.

Dr. Courchesne and his team involve themselves in really fascinating work. Considerations have been applied toward the cellular and molecular basis for brain overgrowth. Abnormal gene expression within the networks of cell cycle, apoptosis and cell survival are given attention.

Per the recent news reports of brain overgrowth in autism; Dr. Courchesne has identified that brain overgrowth more predominantly transpires for simplex occurrence of autism. Simplex is when only one case of autism transpires in a family. Multiplex is when there are multiple siblings who are identified with autism. Furthermore, his research results seems to indicate that simplex and multiplex cases follow different developmental paths; long-term structural outcome from abnormal gene expression appears worse for simplex.

Makes me wonder if simplex are usually found within the subsets that are identified beyond the age of one-year? Seeing as the subsets that are identified a bit after one-year of age have less favorable prognosis overall. When I research statistics on the matter I find that autism is under reported in families that have identification of one case of autism - in that the families don't necessarily seek autism identification for all family members who might have it. (link to one example) It appears that simplex cases may actually be unidentified multiplex cases, at times. Hopefully there was not a lot of under reporting of autism for the simplex occurrence of autism that were evaluated by Dr. Courchesne...

I am just a mom who likes to write, and I have a daughter who gives me a lot to write about. The rest of my family is pretty special too. We have all learned that the most important thing to do is to keep trying. So while I have a rather simple view of what the five-minute checklist represents - I hope it represents more than I thought for the overall spectrum. 


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