Autism Among the Amish?
March 31, 2006 by Do'C 
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A local 12 News reporter here in Phoenix, apparently announced the discovery of a genetic cause for autism on Thursday.
“Doctor Dietrich Stephan analyzed these genechips carrying DNA of children with Epilepsy and Autism on these machines and discovered a genetic cause for both.”
You can read the entire online 12 News article here. (Warning: may contain eugenics)
In reading the actual study that apparently inspired this news - it says no such thing, and it’s specific to a seizure disorder, within the Amish.
Was this responsible journalism? I think it difficult to conclude that it’s not misleading, given that the study was of genetically isolated population and itself essentially concluded, without reference to autism:
“It remains to be seen whether mutations affecting CASPR2 or its associated proteins will be identified as causes of symptomatic childhood-onset epilepsy outside of the Old Order Amish community.”
Let’s look just a little bit closer at this study of nine Old Order Amish children with cortical dysplasia focal epilepsy (CDFE), in which six of the nine were diagnosed with PDD or autism, and all nine were diagnosed with mental retardation.
From the introductory summary:
“Intractable focal seizures began in early childhood, after which language regression, hyperactivity, impulsive and aggressive behavior, and mental retardation developed in all children. Resective surgery did not prevent the recurrence of seizures. Temporal-lobe specimens showed evidence of abnormalities of neuronal migration and structure, widespread astrogliosis, and reduced expression of CASPR2.
And from the end of the discussion:
“However, the clinical and etiologic heterogeneity among the many reported patients with symptomatic focal epilepsy precludes meaningful comparisons, and the electroencephalographic, radiologic, and neurodevelopmental features of the CDFE phenotype were nonspecific.”
I certainly don’t want to say that such research may not be a scientific achievment (especially when looking at some of the newer laboratory methodology). Such research could provide some real understanding - especially to the Amish in this case. Will understanding of the genetics involved with CDFE among the Amish lead to understanding of autism in general? Maybe. Here’s T-Gen’s press release about the study, which says:
All affected children had relatively normal development until the onset of frequent intractable seizures in early childhood. Thereafter, they developed language regression and additional features of autism, possibly implicating this gene as a cause of autism in the general population.
Has a genetic cause of autism in general been discovered? Not according to the study.
Two things are certain: There are at least six Amish persons diagnosed with [edit: by DSM-IV criteria for, see Michelle Dawson's comments] autism, and the local news here in Phoenix, overstated the facts when they generally claimed a genetic cause for both Epilepsy and Autism has been discovered, without mentioning the Amish in their article.
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Comment by Prometheus — 1 April, 2006 @ 7:39 am
DOC,
Absolutely right! While the Amish (and Old Order Mennonite) children with CASPR2 mutations should have been counted by Dan Olmsted as “autistic” (in his two-part series on the lack of autism among the Amish), their disorder is not at all like the autism seen among the general population.
This brings into sharp focus one of the significant problems with the daignosis “autism”. Since it is based on subjective assessments of behavior, it is, at best, a very broad definition. Add in the imprecision with which the “label” of autism is used, and the term “autism” becomes nearly meaningless. In my own area, the “autism” label has been applied so broadly that it has moved from a medical diagnosis to a colloquialism.
Additionally, the children who have been “diagnosed” as autistic are often more different from each other than they are from the general population. This suggests that there is more than one disorder being labled as “autism”. Accordingly, the concept of finding “the” gene for autism is laughable - it would be like finding “the” cause for fever.
Finally, eugenics is not only a dangerous policy, it is ultimately futile. Even discounting spontaneous mutations, eliminating a genetic disorder requires not only “eliminating” the victims, but also all the asymptomatic carriers - a much larger number.
And you never know what “useful” talents and abilities would be eliminated if a genetic “disorder” is eliminated. The genetic diversity of our species is an important source of genius and talent - reducing it will diminish that wellspring of abilities and turn us into a species with as much variety as a field of corn.
Prometheus
Comment by Dad Of Cameron — 1 April, 2006 @ 8:03 am
Thank you Prometheus, this is exactly how I saw it, especially after reading the study, but you’ve summed it up nicely. Not all of my Phoenix readers may know the Dan Olmsted story, but I think the more important distinction here is the genetic homogeneity of the Amish and the difference between this result and autism in general.
For anyoned interested in Dan Olmsted’s (UPI reporter) claims which follow something along the lines of the Amish don’t become ‘autistic’ simply because they don’t get vaccinated and receive thimerosal, see the Prometheus post over at Photon In The Darkness - http://photoninthedarkness.blogspot.com/2006/03/how-to-seek-and-not-find.html.
Comment by Michelle Dawson — 1 April, 2006 @ 12:12 pm
I disagree. There is one predictive distinction dividing “autism in general”, the primary/secondary difference (Pavone et al, 2004; Miles et al, 2005; Battaglia & Carey, 2006; we wrote a bit about it in Mottron et al, 2006).
In Battaglia & Carey, the high standard for establishing diagnoses (ADI-R + ADOS-G; yes, we can diagnose precisely, otherwise we could not do research– autism has standardized quantified diagnostic intruments) would predict that they would find very little epilepsy in primary autistics and in fact in this study they find none. This contrasts with secondary autism, where there is a high rate of epilepsy. Also, in this study, even when it was clear that “autistic” behaviours were secondary to another condition (in 14 out of the total sample of 85 autistics), in four cases this etiology could be proposed (it must exist) but not named (this does happen; not all non-autism neurodevelopmental disorders have names, nor can their causes all be established yet). Further analyses (outside the parameters of this study) were said to be required.
The Amish autistics are secondary autistics. You could predict that they would have a high rate of epilepsy; in fact, that is how they were found. You could predict they would have a high rate of MR (they do, though how this was established is not explained). I don’t know what diagnostic standards were used to label the six Amish children “autistic”.
The primary/secondary division is not absolute; but in a significant minority of cases (10-30%), autism is secondary to other conditions, and often (not always), the primary non-autism condition is more determinative.
I realize there is scant interest in autism research which consistently (and predictively) shows striking differences between primary autistics and non-autistics. That does not mean this research is not possible, or does not exist.
Comment by Dad Of Cameron — 1 April, 2006 @ 1:18 pm
Michelle said, “You could predict they would have a high rate of MR (they do, though how this was established is not explained). I don’t know what diagnostic standards were used to label the six Amish children “autistic”.
According to the table in the study about the MR, ADHD, and Autism diagnoses:
“In the six patients who were older than 48 months of age, the diagnoses were made on the basis of criteria listed in the Diagnostic and Statistical Manual of Mental Disorders, fourth edition.”
Comment by Michelle Dawson — 1 April, 2006 @ 3:36 pm
For clarity, I was disagreeing with the specific assumptions that autism (however many genes are involved) is a mushy, non-valid, meaningless entity, and that researchers/clinicians who diagnose autism are just sort of guessing.
I agree with DoC that the media coverage was irresponsible. It is typical though. E.g. recent media stories and press releases about MEF2 transcription factors came with big promises about autism, when autism is not even mentioned in either of the published (in the journal Science) studies.
And I agree about the eugenics stuff. I am amazed as usual that some non-autistics can’t learn from previous strenuous and hideous efforts to ensure that only the “right” kind of people exist.
All diagnoses of autism should be made according to DSMIV or ICD-10 criteria, but in any kind of credible science, this should be via one or more of the recognized diagnostic instruments (this is what I meant by “what standards”). Re MR they have mental ages (from Griffiths) for three of nine children. Epilepsy is extremely well documented, but the additional diagnoses are much less so in this study (I don’t know enough to comment on ADHD diagnoses).
Comment by Dad Of Cameron — 1 April, 2006 @ 3:47 pm
Thank you for the clarification Michelle, it is sincerely appreciated.
More about Michelle’s reasearch and advocacy at her website.