I guess everyone has now seen the story of the Turkish siblings who walk on all fours. If not, the media version is here (BBC story here), and this is a followup in which the whole affair begins, predictably, to degenerate into a circus. I say predictably because there was a strong whiff of rat about it from the beginning. The Turkish researcher who "discovered" the family, Uner Tan (see also, pdf), wants to name the syndrome after himself before the ink's dry on the initial descriptions. He's got one article in the mainstream journals, at the Int J Neurosci (subscription only and my library doesn't take it, if anyone reading this could send me a pdf I'd appreciate it); this is the abstract:

The author has discovered a new syndrome with quadrupedal gait, flexed head and body, primitive speech, severe mental retardation, and mild cerebellar signs with a disturbed conscious experience. This syndrome was exhibited by 5 of 19 children from a consanguineous family. The pedigree demonstrated a typical autosomal-recessive inheritance. The genetic nature of this syndrome suggests a backward stage in human evolution, which is most probably caused by a genetic mutation, rendering, in turn, the transition from quadrupedality to bipedality. This would then be consistent with theories of punctuated evolution. On the other hand, the extensor motor system causing a resistance of the body against the gravity may actually be subjected to evolutionary forces. This new syndrome may be used as a live model for human evolution. An accompanying video clip for this article is available as a downloadable file accompanying the official online version of International Journal of Neuroscience. To access it, click on the issue link for 116(3), then select this article. A download option appears at the bottom of this abstract.

I find the idea of a single mutation driving human evolution backwards from bipedality to quadrupedality literally incredible¹. It gets better -- Prof Dr Tan has also published an article (pdf) in Neuroquantology, which bills itself as "An Interdisciplinary Journal of Neuroscience and Quantum Physics". Here's that abstract:

The recently discovered "UNERTAN SYNDROME" consists of quadrupedal gait, severe mental retardation, and primitive language. This syndrome can be considered as devolution of human being, throwing a light into the transition from quadrupedality to bipedality with co-evolution of human mind. The genetic nature of this syndrome supports the punctuated evolution during transition from quadrupedality to bipedality. In light of Tan's psychomotor theory, accentuating the major role of the motor system in human mind, a new theory was suggested for the human evolution. Namely, the unique behavioral trait of man, the emergence of the habitual bipedality with Homo erectus (1.6 million and 250.000 tears ago) may be coupled with a resistive mind, which forced man to stand up against the gravitational forces with consequent success in tool making and hunting, using free hands for survival. The second stage in the evolution of modern human beings may be coupled with the emergence of language (circa 40.000 years ago), playing a major role in the origins of human mind.

Oooo-kay then. Enter Nicholas Humphrey and John Skoyles of the London School of Economics Centre for Philosophy of Natural and Social Science and Roger Keynes from Cambridge, who published an LSE "discussion paper" (pdf) (read: no peer review) on the family. According to that publication, "Tan contacted NH and JS, and together we visited the family in June 2005". Together, it seems, with a BBC documentary team; the film is scheduled for UK release next Friday. The Humphrey et al. dp is actually better than the Tan paper; in particular, it gives the lie to the latter's claim of "primitive language" by pointing out that all the affected siblings in fact speak Kurdish, though with difficulties. Nonetheless, it (the dp) smacks of the late unlamented Empire:

The local villagers laugh at and tease them. Because of this, the females tend to stay close to the house, but the male sometimes wanders for several kilometres. He helps raise money for his family by collecting cans and bottles, which he carries home in a pouch made from his shirt, held by his teeth. He is remarkably agile. We watched him moving easily across rough terrain in search of collectibles. While he searched ahead, his hands anticipated the contours of the rocks, so that he placed them deftly without looking down. He was able to run ahead of us, carrying his mouth bag -- while at the same time, to show off, he kicked one of his legs in the air (Fig. 2d).

Far worse than that, though, informed consent apparently consisted entirely of the following:

The father of the family signed a statement in Turkish which was explained to him by Defne Aruoba. In this statement he consented to his children undergoing medical and other tests related to research on their quadrupedal gait, said he understood that all information of relevance to their welfare would be shared with him, and acknowledged that he had no objections to the research being published. He signed a further statement for the BBC, consenting to film and photographs of his film of his family being broadcast.

The second world-science.net story above explains what's wrong with that:

"I'm suspicious all over the place," said Arthur L. Caplan, director of the University of Pennsylvania Center for Bioethics in Philadelphia. He said such a deal should have been pre-reviewed by one of the ethics panels that research institutions appoint for such purposes.

Humphrey wouldn't say whether that occurred. His two co-authors in the research project didn't answer emails.

Payments to research participants are normal, Caplan said, but must be vetted to ensure they're neither unfairly small, nor too large: "You're not supposed to bribe people into being subjects."

He added that participants should have advocates to advise them of their rights and the risks, such as the possibility that they might become subjects of a media circus. Humphrey's paper says a friend advised the family.

Michael Kalichman, director of the Research Ethics Program at the University of California, San Diego, wrote in an email that this sort of transaction generally "wouldn't be right in terms of the protection of research subjects and it certainly wouldn't be right in terms of the sharing of research knowledge."

Caplan is right to be suspicious, it's dodgy as hell. I hope some very pointed questions are going to be asked of the LSE about what sort of ethical oversight they provide their researchers.

There's one more paper available, this one from the Institut für Medizinische Genetik and published in the J Med Genet (abstract here, I could get the full text of this one). Mundlos' group show that the affected siblings' disorder maps to chromosome 17p, and -- on the flimsy basis that other heritable syndromes involving cerebellar hypoplasia do not result in quadrupedal locomotion -- speculate rather loosely about the evolution of bipedality. The authors themselves note that while the brain malformation is fully penetrant, two of seven affected walk upright, and that "we cannot exclude that early and sufficient treatment might have altered the outcome in the affected". It seems much more likely that the observed quadrupedal locomotion is a means of compensating for the cerebellar defect than a reversion to an ancestral state. There may be more clues to this issue available when the defect is more finely mapped -- we could, for instance, compare the affected gene/s between humans and other primates. The atavism hypothesis, however, will probably remain untestable since the affected gene/s are most likely to be involved in brain development and to not vary informatively between humans and other primates. That's a safer and saner prediction than "reverse evolution" (a stupid name that implies the existence of an identifiable "forward" direction), but it doesn't sell as well.

I wasn't going to blog about this, being content with a few comments at 3QD, but then Carl Zimmer removed his post about it. Carl pointed to the world-science.net story I linked above, which contains some back-and-forth between Tan and the LSE researchers about the ethical implications of payments made to the family. In comments, Humphrey objected, calling it "empty gossip". Carl pointed out that in fact it was the accusation of a professional colleague, not gossip, and raised other reasonable points, to which Humphrey apparently declined to respond in public. Here's Carl on his decision to delete the post:

Dr. Humphrey and I have been exchanging some email since then, from which I've gathered that some people--including some reporters--have misread what I wrote. They're under the impression that I reported ethical and financial hanky-panky going on. In fact, I was pointing out some ambiguities that raised my concern. When Dr. Humphrey provided me with information clarifying the situation, I immediately posted it. But that apparently has not prevented some people from carelessly misreading my post. I believe that serious ethical issues must be considered whenever scientists work closely with television productions. But I do not want to be involved in the spread of this sort of damaging misinformation, even passively. Given how things have devolved, it seems like tacking on additional explanations is not going to rectify the situation. So I've decided to delete my discussion of the topic. It's not a perfect solution, but it's the best I can think of.

That, then, is the actual point of my entry -- I wanted to comment on Carl's post, but I didn't think he'd appreciate my tone. I've provided the background above so that I can put it here:

Carl is not responsible for other people's misreading of his commentary, which I found eminently reasonable and which was not in the least unclear or confusing. I wish he hadn't deleted it, as I don't think it did Humphrey disservice, let alone damage. Moreover, few regular media outlets will give Humphrey the right of reply. Though I applaud Carl's concern for journalistic ethics, I think he is being too careful of the reputation -- or rather, the thin skin -- of someone who is discovering that the spotlight into which he eagerly scrambled is not always as much fun as he'd thought it would be.

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¹ It's not impossible, but if it turns out to be true my own amazement will be such good sauce that I will enjoy my helping of crow.