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Timothy Carey's avatar

Another excellent article from the Unbiased Science team. I hope it's disseminated widely. My wife and I certainly considered the pros and cons of vaccinations when our son was born but, for us, the evidence is overwhelmingly in favor of do rather than don't vaccinate.

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M. Stankovich, MD, MSW's avatar

What I am continually amazed by is the fundamental foundation of genetic heritabilty data that is overlooked when discussing the etiology of ASD. While the Online Mendelian Inheritance In Man [OMIM] database from Johns Hopkins Medical School attempts to categorize every instance and occasion of a potential marker - some 139 - the single general category of Autism should be easily identifiable to every clinician and parent by its description.

And amazingly, the studies that began to define ASD began with a paper written, first, by Dr. Leo Kanner, "Autistic Disturbances of Affective Contact" in 1943, followed by a similar paper by Dr. Hans Asperger in 1944. And you would have thought they were dealing with a completely opposing entity: Kanner wrote of a group, "A majority [of which] are retarded, often severely; a significant proportion have seizures and may have “soft” neurological signs and symptoms—a whole range of repetitive or automatic movements, such as spasms, tics, rocking, spinning, finger play, or flapping of the hands; problems of coordination and balance; peculiar difficulties, sometimes, in initiating movements, akin to what is seen in parkinsonism," while Asperger spoke of children who "might have certain positive or compensating features— particular originality of thought and experience, which may well lead to exceptional achievements in later life.” And this is critical, as the OMIM is every bit as much focused on heritable behavioral diversity as it is on specific genetic heritability.

Nevertheless, serving as a base, the OMIM focuses on what you would expect for Mendelian inheritance: classic family pedigree studies (including Scandinavian studies that rely on familial pedigrees dating to the 17th century); validated twin studies; genetic heterogeneity (e.g. genome wide association studies); exclusion studies; molecular genetics; and populalation genetics. In our day, study after study confirms the indisputable fact that genetics are seen to influence the development of ASD in anywhere from 40-80% of cases, and we have only begun to investigate the epigenetic influences - currently believed to include later-in-life parenthood,; an over/under abundance of critical nutrients during pregnancy; disturbance in the brain/gut microbiome; and other yet to be discovered triggers may be triggers for ASD.

As a psychiatrist, I have long thought that the avoidance of this genetic fact is a distraction for what I have been reading in the research literature regarding the fear of being viewed as a "bad" or "negligent" parent for having an ASD child - and I believe you would very surprised by the sheer number of research studies that bear this out. I have concluded I need to be sensitive, empathetic, and supportive and I am trying to lose my "combative" mode!

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