Autism in a different light - long

[Guest guest]

There has been a short discussion off-list which included the *possible*

" why " of increased autism incidence in children of Somali immigrants to

northern climes.

One of us wrote (I paraphrase):

" ...our kind are " canaries in a coal mine. " What is bad for us is

bad for everyone. We're seeing increases of all kinds of disabilities

in children. "

To that, inter alia, I answered:

" Not just *our* kind. I believe there are dozens of relict

genotypes which - if we looked for them - could be seen as serving a

similar 'purpose'.

Some, like our own(?), might even be beneficial to the species as a

whole. Which is why *our* gene combinations are still around "

I thought it might be useful for others to see whence and from where

that " beneficial " sentiment of mine first arose.

First though, recall that Schizophrenia was the bio-medical research

" hot thing " in the 1960s -- less so, but similar to what autism is today.

Second, note there is today an extant thesis/theory which envisions

schizophrenia as a *member* of the modern " autism spectrum " .

Third, I knew I was " different " from other people since about age three,

and *from then on* I was constantly searching for " how " and " why " every

chance I got.

Fast forward to 1967, when already I'd been employed in U.C. Berkeley's

Donner Lab as a Biophysicist, with (some) professional interests in

schizophrenia research.

Unknown to me, in 1966 J.L. Karlsson had tied schizophrenia to autism in

a book which truly was seminal but which never " caught on " -- the

schizophrenia craze was ebbing.

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THE BIOLOGIC BASIS OF SCHIZOPHRENIA

By JON L. KARLSSON, Ph.D., M.D.

Department of Pediatrics, University of California, San Francisco

With a Foreword by Curt Stern, Berkeley, California

CHARLES C THOMAS • PUBLISHER

Springfield • Illinois • U.S. A.

© 1966, by CHARLES C THOMAS • PUBLISHER

Library of Congress Catalog Card Number: 65-25738

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The book is long out-of-print and bears no ISBN. The info above will

have to do.

I claim " fair use " of the short passage transcribed below.

[Asidem: Interestingly, Curt Stern was my own mentor and thesis adviser

as well as Karlsson's. Ten years later " peds " was *my* own Department

at UCSF.]

In the Donner Library it was Stern's name on the dust jacket which

caught my eye.

In his two-page Conclusion, Karlsson had written:

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On the basis of the evidence discussed in Chapter 5, it seems justifiable

to conclude that schizophrenia should be considered an inherited

disorder. The schizophrenic constitution is thus present throughout

the lifetime of an involved person, although overt manifestations may be

periodic or even absent. A unitary etiology is favored by data presented

in Chapter 6. Analysis of the family distribution leads to the conclusion

that the data are consistent with a modified dominant inheritance, and all

theoretical mechanisms seem excluded except one which is based on a

joint operation of a " dominant " gene and a separate recessive one. The

latter mechanism is consistent with the empiric data, and it may be

described as follows:

Two independent gene controlled personality characteristics are envisioned,

one associated with a thought deviation, which can be demonstrated

by certain psychologic tests, the other possibly associated with a

state of nervous tension. The thought deviation is determined by the

" dominant " gene and occurs in one person out of fifteen. The other condition

results from the recessive gene which is homozygous in one person

out of six. When both exist in the same individual, as would occur in 1

per cent of all persons, an incompatible situation arises, usually leading

to schizophrenia. Disordered catecholamine metabolism is suggested as

the most likely physiologic mechanism, with an overproduction of a

neuroactivating

substance.

On the basis of studies of foster-reared individuals, it is concluded

that environmental factors do not play an important role in the basic cause

of schizophrenia, although they appear to bring on the symptoms or modify

the clinical expression. Certain relatives of schizophrenics may represent

one or the other of the component genetic states, and this may account

for their deviant personality patterns described by some authors.

The following genotypes would exist, in the frequencies indicated,

and are thought to possess the personality characteristics listed within

parentheses; although these should be considered hypothetical until

further information becomes available:

(1) 79% SSPP or SSPp (normal)

(2) 15% SSpp (perhaps alcoholic)

(3) 5% SsPP or SsPp (gifted)

(4) 1% Sspp (schizophrenic or genius)

(5) 0.1% ssPP or ssPp (autistic) <- NB: *two* genotypes -wdl

(6) 0.01% sspp (perhaps lethal)

It is implied that the " normal " person, while physiologically well balanced

and psychologically healthy, is constitutionally non-creative.

The carrier of the s gene is considered " gifted " on the basis of preliminary

data discussed in Chapters 8 and.9, but he may suffer from tension,

which is seen in a still higher degree in the schizophrenic. If this system

is operative, it can explain why a race of superior mentality has not

arisen; a heterozygous state cannot be perpetuated in the absence of the

corresponding homozygotes. The genes causing schizophrenia appear to

have a survival value, except when combined in the full schizophrenic

genotype. This phenomenon, termed balanced polymorphism by geneticists,

helps to explain how a disorder can remain frequent despite selection

against it. Schizophrenia can then be looked upon as the price which the

human race must pay for its superior members. Hopes for its conquest

rest with a determination of the underlying chemical disturbance.

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I've transcribed it all, so as to not disturb Karlsson's own meaning, in

his own words.

That said, remember that *neither* schizophrenia *nor* autism yet has

any *objective* test *necessary and sufficient* to evaluate a person as

" having " - or being - one or the other.

And *that* said, try substituting " autism " for " schizophrenia " every

time you read it. ...Especially the last seven lines -- about " survival

value " .

Which is the point, way above, of writing all this.

[Asidem: Yes, I know the 2-gene 2-allele model is outmoded. But his

data (whole Icelandic database) can be re-interpreted in light of modern

knowledge. Apart from invoking two genes only (affecting the math), his

basic conclusions are little affected, and never have been shown wrong.]

Reading Karlsson, even back then, I was certain I could be " autistic " .

I discarded the notion only because " autism " then meant what we know

today as " Kanner-type " autism. Certainly, obviously, I didn't fit.

It wasn't until the early 1980s that Asperger-type (my term -wdl)

was recognized. And *that* I fit very clearly and " officially " . But I

didn't know it for sure until after 2002.

- Bill, ...AS, ...retired geneticist ...(case closed; " journey " complete)

--

WD " Bill " Loughman - Berkeley, California USA

http://home.earthlink.net/~wdloughman/wdl.htm