COMMENTS ON FIRST POST:
This is an excellent thought, Paul — (“are there other clearly identifiable ethnic groups where such studies (risk of ASD frequency) could be conducted — between populations of patients with the same genetic background, but different cultural environments”). The cohort being studied would require at least 20-30 years — up to as long as 60 years. Previous studies of this type that come to mind include: [a] risk of breast cancer in Japanese women living in Japan versus those immigrating to and living in the U.S. for one or two generations; and [b] rate of obesity or risk of diabetes among Pacific-Islanders living in their native Pacific Islands versus those living in the U.S. or U.K. for one or two generations. In other words, SAME genetic background, while comparing altered diet and lifestyle over long periods of time.
This topic also touches on a comment by Dr. Liew: (“ASD is indeed broad-spectrum and heterogenous”). “Cancer” and “marked obesity” and even “diabetes” — are not single entities, not “single diseases,” but rather represent a collection of subsets of disorders with possible (or likely) differing causes. Similarly, “autism spectrum disorder” is not a single disease, but (as the name says) a spectrum of maladies that are being considered as an all-encompassing phenotype that (actually) likely reflects subsets having multiple etiologies.
DwN
COMMENT:
Hi Walt:
Your comments complement and further support what we’ve covered in three previous emails. Yours is the perfect email to bring closure to this fascinating topic. And (actually), our conclusions differ quite dramatically from those expressed in the Medscape article by F. Perry Wilson, MD, MSCE — which was the stimulus for discussing this topic on GEITP in the first place.
—DwN
From: Miller, Walter
Sent: Friday, May 2, 2025 4:26 PM
Hi Dan,
Thank you for the discussion of autism and its reported skyrocketing incidence. You have listed crucial categories of potential causes, including i) multitudinous small-effect genetic changes, ii) epigenetic changes, iii) environmental and lifestyle factors (which you enumerated expertly), iv) endogenous factors (which may be associated with small-effect genetic risk factors) and v) each individual’s microbiome. To this list, I think we must add another item, which may quantitatively be the most important factor in accounting to the huge increase in ‘autism’ or ‘autism spectrum disorders’; that item is nosology (which is the branch of medical science dealing with the classification of diseases).
Like you, during medical school in the 60’s and pediatric residency in the 70’s, I only rarely encountered a kid with a diagnosis of ‘autism’. The neurologists tended to define ‘autism’ as a psychiatric disorder related to schizophrenia, typically presenting in 2- to 4-year-old boys and characterized by difficulty in establishing personal relationships, even with parents, and behavioral problems. Autistic kids were generally uninterested in others or their environment and scored poorly on cognitive tests — although some exhibited extraordinary abilities in very specific areas. Fast forward to today, and almost any child with intellectual impairment is labeled as being ‘autistic’.
Thus, for reasons of convenience, or the need to check a diagnostic box, the health-care ‘industry’ has adopted the term ‘autism’ and morphed it into a catch-all term for anyone with intellectual impairment, often associated with a seizure disorder or difficult behavior. In my opinion, I don’t think that autism, complex seizure disorders, or intellectual impairment — are any more common today than 50-60 years ago. Instead, the rise in the diagnosis of ‘autism spectrum disorders’ reflects a growing awareness of the long-overlooked segment of humanity that has atypical behaviors, special needs, and an inability to adapt to society as we might wish. Whatever ‘autism’ is, at least it is out in the open, and it has become an important part of the neurological research agenda.
Walt
COMMENT:
Hi Jim:
Your email containing two videos is a valuable (visual) contribution to this topic; those videos remind me of one very memorable patient I saw in Pediatric Outpatient Clinic, a 14-year-old mentally retarded boy named Brian who could not read or write. I cannot recall the details of what the initiating event was, but at the age of about six, Brian “had gotten separated from his parents” in downtown central Los Angeles in the mid-1960’s and had an extraordinarily traumatic experience finding his way back home. Subsequently, Brian memorized the names and numbers of every street and avenue in Los Angeles, and every bus route and bus number — throughout the Greater Los Angeles Metropolitan Area. A telephone directory or street map or bus schedule could not help him; all his Global Positioning System (GPS) abilities were stored in his mind.
You could ask Brian (“Let’s say you are at 255 S. Oak Knoll Avenue, Pasadena. How would you get home?”). And, without hesitation, Brian would rattle off which direction he would walk first to get to the nearest bus stop, and then how many bus transfers would be needed to get back to his home. Once his father discovered Brian’s “talent,” he would showcase his son’s ability to all his relatives and friends; they were invited to choose a random location, and immediately Brian would tell them how he would return home. In the mid-1960’s Brian was diagnosed as an “Idiot Savant” (similar to the 1988 movie of Dustin Hoffman in “Rain Man.”) This means someone with a severe mental or learning disability, but who is extremely gifted in one area — such as performing incredible abilities of memory or music or mathematical calculations.
Thus, today, Carly Fleischmann in her videos is diagnosed as “autistic,” or “having autism spectrum disorder” (ASD). However, in the 1960’s Carly’s diagnosis would likely have been something different — such as Idiot Savant.
DwN
From: Jim Adams
Sent: Monday, May 5, 2025 4:31 PM
Dr Dan: Please check out these two videos of the famous “autistic” girl, Carly, who learned to type her thoughts on a computer! Incredible story (this is a 10-min video):
and when she got older (7 minutes):
Born in 1995, she is now 30 years old. Although Carly still struggles with all the symptoms of “autism” — which she describes with uncanny accuracy and detail — she now has regular, witty, and profound conversations on the computer with her family, her therapists, and the many thousands of people who follow her on social media via her blog, Facebook, and Twitter.
—Jim
James Adams, MD, general medical practice specialist, semi-retired, Cleveland, Mississippi