Is the Autism Spectrum Also a Genetic Spectrum?

The following is a blog written by my wife Emily Casanova. I think the subject is of importance and interest to the autism community. Hope that you enjoy reading the same.

Peter Good commented:

I could not agree more with Dr. Angelantoni. As Martha Herbert (MD,PhD) wrote: “[Y]ou cannot have a genetic epidemic.” [Translational implications of a whole-body approach to brain health in autism. In: Frontiers in Autism Research: New Horizons for Diagnosis and Treatment. Hu V, ed. Singapore: World Scientific; 2014]
Does anyone  doubt we’re in an epidemic of autism that begain in the early 1980s and is getting worse? Beginning with studies by Stephen Schultz and colleagues, the evidence implicating  acetaminophen (Tylenol) as the most common environmental agent triggering autistic disorders is compelling – especially via its depletion of  glutathione, William Shaw of Great Plains Laboratory pointed out. [Evidence that increased acetaminophen use in genetically vulnerable children appears to be a major cause of the epidemics of autism, attention deficit with hyperactivity, and asthma. J Restorative Medicine 2013;2:1–16.]
Epidemiologists Ann Bauer and David Kriebel of UMass reported how commonly acetaminophen (paracetamol in the UK) is given for circumcision. [Bauer AZ, Kriebel D. Prenatal and perinatal analgesic exposure and autism: an ecological link. Environ Health 2013;12:41]
Addendum by Peter Good:

Re our autism epidemic: Jon Pangborn of the Autism Research Institute (ARI) reported in 2002: “Around 1980 … the total frequency of occurrence doubled, doubled again, and by 1995 was approximately 10 times that of 1980. Furthermore, while the onset-at-birth type had increased 3 to 4 times, the onset-at-18-months type had skyrocketed to considerably more than 10 times its 1980 level.” Pangborn concluded most of the autistic population now appeared to have “an acquired disease caused by something that we were not doing 20 years ago.” [Pangborn JB. Introduction to the diseases of autism and laboratory testing options. In: Pangborn JB, Baker SM. Biomedical Assessment Options for Children with Autism and Related Problems. San Diego, CA: Autism Research Institute; 2002]

Bauer and Kriebel also cited evidence that may explain more children born autistic – by the early 1980s about 42% of American women used acetaminophen during the first trimester of pregnancy: “The rate climbed to over 65% in the early 1990’s, where it has essentially remained through 2004.”

Science Over a Cuppa

Genetics research into autism has made considerable strides in recent years. While it may seem to most lay people that a lot of funding goes into a field that has offered little translational help to those who want and need it, we are nevertheless coming closer to understanding precisely what is this group of very heterogeneous conditions, at which point I’m hopeful more interventions will reveal themselves once we have that foundation of knowledge.

We have learned a lot about rare autism syndromes that have strong genetic bases, which comprise an important minority of the spectrum. Unfortunately, it’s still a mystery how these rare syndromes may or may not relate to the rest of the autism spectrum.

A new article by  Rossi et al. (2017) suggests that the genes targeted in rare autism syndromes may in fact be involved in a  broader range of the autism spectrum than we’d anticipated.

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3 responses to “Is the Autism Spectrum Also a Genetic Spectrum?

  1. Really interesting. I hadn’t realised that while the onset-at-birth type had increased 3 to 4 times, the onset-at-18-months type had skyrocketed to considerably more than 10 times its 1980 level but certainly agree that it is often an “acquired” disease; though I also think a number of different factors may be involved – not just Tylenol.

    Once we understand the factors involved in the process of acquiring ASD we will be able to ask the right questions as we try to pinpoint whichever environmental “culprits” are involved.

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    • Yes, many factors appear to be involved. The main point being that autism is a multifactorial or complex condition, not one simply dictated by Mendelian inheritance. I proposed a triple hit hypothesis which I published but also wrote a blog. In the same you have to consider genetics, environmental factors, and also time during brain development. It is the variability among these factors that gives rise to the clinical heterogeneity of autism.

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      • Yes I agree Autism is a layered condition made up of many sub-conditions and syndromes in which developmental delays may occur because of varying factors such as what you stated environmental, genetics and also the situation at birth too (such as hypoxia, silent strokes, underdevelopment, prematurity). The fact that there are rare autism-based syndromes is not surprising – hopefully in the future people like yourselves will pave the way for a better understand of autism as “autisms” or as Donna Williams has described “autism Fruit Salads”. I very concise and well written article. 🙂

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