Tag Archives: Genetic syndromes

Observations on Beaumont children disappearance suspect – a diagnosis for Harry Phipps?

I’ve been watching coverage of the latest investigation of the disappearance of the Beaumont children in South Australia in 1966. Three physical characteristics of the suspect, the late wealthy and well-connected businessman Harry Phipps can be seen in photograps shown in recent reports: hypertelorism, gynecomastia and a narrow palate. These traits or disorders can be found in normal people but they are also associated with genetic disorders. It seems too much of a coincidence for a group of inborn disorder traits to be found in a murder suspect who is known to have been a violent paedophile, a long-term perpetrator of incest, a wife-beater, and a cross-dresser who displayed a “psychotic” temper. This certainly reads like a description of a person who was put together incorrectly, which is not an excuse for the vile criminal behaviour, but perhaps is a big step towards an explanation for Australia’s most tragic and terrible mystery.

I’m not sure how many children Phipps fathered, but I’ve only found mention of one, an estranged son who is no longer alive. If this is the only offspring of Phipps, possibly this is evidence of low fertility, which considered in combination with his tall, slim build, gynecomastia, cross-dressing and hypertelorism could be a symptom of the inborn but not inherited chromosomal disorder Klinefelter syndrome, which can be associated with an increased risk of psychosis, executive dysfunction and learning difficulties.

Another computer algorithm created to perform a face perception task that any person can do without even thinking

Wenz, John This Algorithm Guesses Your Biological Age Just by Scanning Your Face. Popular Mechanics. April 1st 2015.

http://www.popularmechanics.com/science/health/a14874/facial-scans-biological-age/

“For example, if a person appears to be considerably older than they really are, a doctor might look for something to explain that, whether it’s a genetic disorder or a lifestyle issue.”

I do not doubt the link between appearance of facial aging and genetic syndromes or drug addiction as I personally know of some real-life examples of both, and I don’t doubt that a good doctor should look for this in facial appearance and make appropriate investigations, but I do question why any doctor with normal eyesight and face perception would need a computer to do this, and I also question whether under the current “5 minute medicine” model of general practice in Australia, most doctors would have the time or the inclination to enquire about apparent accelerated physical aging in a patient.

I know of quite a long list of things that might accelerate the appearance of aging in the face, including at least one genetic disorder (I know of one family but do not know exactly which disorder), a drug addict lifestyle, smoking (which apparently destroys some vitamin and thus exposes cells to extra stress), and poorly controlled diabetes. There are probably many more things that can have this effect. Ask your doctor.

 

Poor Kenny

If you have ever doubted that simply looking at faces can be used to identify genetic disorders, consider case of Kenny the (very inbred) white tiger. Even though he is an entirely different species than us, we can tell just by looking at his face that something is seriously amiss. http://www.iflscience.com/plants-and-animals/kenny-white-tiger-reveals-price-inbreeding

Beats me why people are designing a computer program to do stuff that a super-recognizer could do standing on their head

Why, why, why do people assume that we need computers to do clever and sophisticated things in face recognition and face perception? Our brains have evolved over millions of years to do this stuff, and some people are even better at this stuff than the amazing feats of visual perception that the average Joe can do with barely a thought or effort.

http://www.newscientist.com/article/dn25776-computer-spots-rare-diseases-in-family-photos.html#.U6mtSvmSx8E

If Abraham Lincoln had Marfan syndrome, identifiable through his facial appearance, then I guess that means that the Australian politician who was identified as a Lincoln double on the TV show Insiders must have it too.

If I were two-faced, would I be wearing this one? Abraham Lincoln

How many other politicians can you think of who could recycle that witty remark?

Jokes aside, its worth taking a look at the larger image of the group of faces in the magazine article, because they change in ways that I find quite fascinating and familiar. Which one do you think looks the most like Alfred E. Neuman? I think the right-edge lower row.

In a perfect world every doctor would be a super-recognizer

In Western Australia a male infertility patient and his partner were given IVF, but it was later found that he had a genetic disorder that could have been passed on to the baby. I think if the doctor responsible for this omission had been a super-recognizer, it is possible that he or she might have spotted something in this patient’s face or appearance that would have given them the tip that a genetic anomaly might have been an issue. Perhaps one day a version of the Perth face-space project with adult’s faces might be developed to routinely and automatically screen or identify such patients.

Doctor fears IVF used too much. CATHY O’LEARY, MEDICAL EDITOR

The West Australian. July 20, 2013.

http://health.thewest.com.au/news/799/doctor-fears-ivf-used-too-much

Oh wow! My idea is being developed by the scientists, and they are scientists in my home town.

I’ve just noticed a story that has been run on the ABC programs 7.30 WA and State to State about researchers in Perth (scientists, doctors and an orthodontist), including some at PMH, who are creating a database of normal children’s faces to create the Perth face-space project, which appears to be a tool in development for the identification of the countless rare (genetic?) diseases which have characteristic facial appearance or facies. This knowledge can be shared globally, so this is Western Australia’s gift to the world. Wow!  We can’t make really good coffee in Perth, but we can do some interesting things here. There is already a research paper by Perth researchers and a Belgian researcher published in which this type of 3D face database method has been researched as a possible tool for monitoring and discriminating a group of rare metabolic diseases in which disease progression alters the facial appearance. I’m very excited to learn about this project because the idea of using face recognition to diagnose or identify rare diseases and rare genetic syndromes is an idea that has been obvious to me for many years, as a super-recognizer who is not only able to memorize faces very well, but is also able to compare and analyse faces with a degree of unconscious skill that is probably above average. I’m sure that most people have an awareness of the significance of facial appearance.

One important consideration needs to be factored into this kind of project – the definite possibility that the characteristic facial features that are being studied can be artificially altered before the patient ever goes near a face scanner or a medical face photographer. Many good parents spend a small fortune with othodontists getting their offspring’s teeth straightened and in doing this they are often erasing one of the signs of a genetic or developmental anomaly. Children can also be the subject of plastic surgery on the face, especially if they were born with a disfiguring facial defect.

One thing that I don’t think is mentioned in this news story is the fact that the studying of faces as an element of medical diagnosis is nothing new at all and does not require any fancy new technology or photographing of patients at all. This new project looks like it will be a great refinement of an idea, but I don’t think it will achieve anything that hasn’t already been done before using human abilities alone. Descriptions of rare diseases and genetic syndromes in medical textbooks or online info sources often feature photographs of patient’s faces that display characteristic features linked with the diseases and conditions. These features can also be described in detailed technical/medical language, much like detailed technical botanical descriptions of the parts of plant species using specialized terms (jargon). Doctors who specialize in genetics or related specialties know what this all means, and they should also have a high to super-recognizer ability to recognize facial phenotypes or at least have the ability to do visual image matching/comparison from the photographs. A specialist doctor with access to photographic resources and good eyes and sound and well-connected intra-cranial face processing hardware should be able to consider the patient’s face properly in a diagnostic process, no online database needed. But this process is labour-intensive, so I can see a use for an online face database.

3D Camera used to detect disease. http://www.abc.net.au/news/2013-04-26/3d-camera-used-to-detect-disease/4654822

Stefanie Kung, Mark Walters, Peter Claes, Jack Goldblatt, Peter Le Souef, and Gareth Baynam A Dysmorphometric Analysis to Investigate Facial Phenotypic Signatures as a Foundation for Non-invasive Monitoring of Lysosomal Storage Disorders. JIMD Reports. 2013; 8: 31–39. Published online 2012 June 10. doi: 10.1007/8904_2012_152  http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565667/

Saw, Samantha Defining normal. InkWire. April 17, 2014. http://inkwirenews.com.au/2014/04/17/defining-normal/

Can autism be seen in the face?

It appears that there are three typical autism faces in boys diagnosed with autism spectrum conditions, which are associated with distinct characteristics.

Kristina Aldridge, Ian D George, Kimberly K Cole, Jordan R Austin, T Nicole Takahashi, Ye Duan and Judith H Miles

Facial phenotypes in subgroups of prepubertal boys with autism spectrum disorders are correlated with clinical phenotypes.

Molecular Autism 2011, 2:15   http://www.molecularautism.com/content/2/1/15   http://www.molecularautism.com/content/pdf/2040-2392-2-15.pdf

Why might super-recognizer abilities have evolved?

There are a number of general areas and applications of face perception that I believe must be enhanced or superior in people who have excellent face recognition ability (super-recognizers?):

1. Identifying the same individual human on different occasions – face recognition

2. Identifying one’s own blood relatives or non-relatives, including a male adult perceiving whether or not an infant is one’s own genetic offspring or not. Things like hair and eye colour don’t always “breed true” and aren’t very specific, while facial features are much more distinctive and numerous.

3. Identifying blood ties among others

4. Identifying individuals who have unusual genetics or genetic anomalies, including genetic syndromes that might impact on the appearance of the face and/or the body, and also health, behaviour, intellect and/or personality

What possible significance do each of these applications of face perception have in terms of natural selection?

1. Keeping track of who does what (to who)…. Judging the character of individuals by the observed actions of individuals over a number of different interactions or observations.

2. Being able to judge the degree of relatedness of others in relation to one’s self must surely be a very useful ability in evolutionary biology. One of the biggest losers in the game of “selfish genes” is the cuckold who mistakenly raises another guy’s kids as though they are his own. He not only misses out on passing on his genes to the next generation, but he also gives two cheaters a free ride, genetically speaking, and thus also possibly misses out on the chance of devoting his resources to his own blood relatives who might not be his own offspring (kin selection). From the Wikipedia, on kin recognition: “…. if individuals have the capacity to recognize kin (kin recognition) and to adjust their behaviour on the basis of kinship (kin discrimination), then the average relatedness of the recipients of altruism could be high enough for this to be favoured.” According to the Wikipedia birds even have powers of egg recognition that can be used in response to the cuckoo-type scenario of brood parasitism: “Recognition of parasitic eggs is based on identifying pattern differences or changes in the number of eggs.”

3. Identifying blood ties among others will give a few clues about the probable loyalties and alliances of others, and it may also help to predict the behaviour of others based on observed behavioural familial traits.

4.  Identifying individuals who have genetic anomalies or unusual genetics could possibly be useful for many reasons. Such individuals might be particularly hard to predict about in terms of health, longevity, behaviour or abilities (impaired or enhanced abilities). One may wish to avoid mating with such risky stock, or to the contrary. One may wish to avoid forming trusting relationships (peer or unequal) with such individuals. Such individuals might be useful allies because they diversify the skill base of the team. Such individuals might be highly exploitable. Such individuals might bring interesting new genes to the gene pool of the family/tribe.

Super-recognizer test? Forget it mate!

I’ve noticed that quite consistently searches that lead people to this blog appear to be people searching for a test relevant to being a super-recognizer, which is a person who has an elite level of ability in recognizing faces, a most useful skill in many ways, and a skill that would be relevant to a number of jobs. Well, I’m sorry to disappoint anyone who is hoping to gain access to a super-recognizer test, but the fact is that I only know of one test that I know enough about it to say that it could decisively separate super-recognizers from simply good face recognizers, and I have been unsuccessfully been trying to gain access to that test since September of 2010. The test is the Before They Were Famous Test (BTWF), and it was one of the two face recognition tests that were used in the study that was written-up in the science journal paper that launched the concept of the super-recognizer in 2009. I’d love to get to do the BTWF Test, even though there would most likely be subtle cultural differences that might impair my performance on that test. I believe the BTWF Test is a test that uses the faces of celebrities, and I’m sure it was created outside of Australia, and so I would assume that those celebrities would not include any Australian celebrities, and I am an Australian. Nevertheless, I was keen to have a go at this test. I was so keen that I volunteered as a study subject at a local Australian university’s psychology department to do some face recognition tests. To cut a long story short, I got to do two other tests, but not the BTWF Test, and I’m still many months later waiting to be told of the results of one of those tests. Just to explain my interest in face recognition – in 2010 I got a surprise after finding that I got perfect scores on the Cambridge Face Memory Test (CFMT) and also the Famous Faces test, and then I realised that I could well be a super-recognizer. I’ve been messed around so much by Australian and overseas academics that I don’t think I’d trust them enough to do any further participation in research, and I think there is something strange about the way that I’ve been dealt with by researchers in the area of face recognition.

I find it a curious fact that of all of the researchers who I’ve told that I am a synaesthete and am willing to provide test results that show it and I also suspect that I’m a super-recognizer, not one, including the university researcher whom I’ve met first-hand, has asked to see any of my test results regarding face memory or synaesthesia. Anyone with some familiarity with the published literature about synaesthesia would surely figure that super-recognizing could well be another cognitive advantage associated with synaesthesia. Do face recognition researchers lack a basic knowledge of synaesthesia research, another area of the neuropsychology of sensory perception? Surely not. Perhaps I have misunderstood the nature of the work that university researchers do. Their job is to do highly structured research studies, with the aim of getting their reports of those studies published in science journals with a good reputation and status. I believe there is considerable pressure to achieve this and do it as often as possible. So perhaps one should not be surprised to find that researchers are only interested in non-academic, non-student people if they can fill the role of being a standardized study subject.

I believe that study subjects like me who do not conform to what appears to be the current scientific view of super-recognizers as “simply the high end of a broad distribution of face recognition ability” (Russell, Duchaine & Nakayama 2009), people like me who are synaesthetes and who score very high in tests of face recognition, are a threat to the current academic status quo, in which the conventional view is that atypical or abnormal brain structure or brain function is associated with deficits in face recognition, and good face recognition ability is taken to be a marker for normality and health and all things nice. A great many studies of face recognition have been inspired by the idea that poor ability to recognize faces and facial expressions are fundamental features of autism. Autism research is supposed to be very well-funded. Studies of face recognition that are promoted as research into the causes of autism would, I guess, attract funding. While not all autistic people are synaesthetes and not all synaesthetes are autistic, there does appear to be some type of link between autism and synaesthesia, so the idea that synaesthetes should be poor at face recognition would be consistent with the above theoretical framework. In fact, the idea that there might be a link between synaesthesia and prosopagnosia appears to be quite a common belief among academics and interested ordinary people. This is based on anecdotes and some very speculative early writing about synaesthesia. So finding a synaesthete super-recognizer who is also very good at identifying facial expressions could upset this apple cart. In any case, those nice red shiny apples seem to be destined for a bruising because of ideas that are being explored by some synaesthesia researchers who are contrasting rather than linking synaesthesia with poor face recognition and other agnosias (Mitchell 2011) or are finding connections between various types of synaesthesia and various types of enhanced perception (Banissy, Garrido et al 2011; Banissy, Walsh & Ward 2009).

The other test of face recognition that was used in the study described in Russell, Duchaine and Nakayama’s 2009 paper about super-recognizers was the Cambridge Face Memory Test (CFMT), which comes in a short and a long form. Both the short and long form are used in that study. It appears that the long form of this test was created to measure a wider range of face recognition abilities, but as can easily be seen in the paper, the long form was quite a failure in this respect. Non-super-recognizers did not fall a long way behind super-recognizers in the CFMT Long Form that much more than they did in the CFMT Short Form. Basically, super-recognizers got perfect of near-perfect scores in the 72 question CFMT Short Form, which is freely available to do over the internet, but a couple of other study subjects also got close to perfect scores in the CFMT.

So, the only thing that I can recommend to anyone who wants to know if they are a super-recognizer is to have a crack at the CFMT, read about the experiences of super-recognizers, and you might also wish to consider whether you have synaesthesia or have any brain-based special abilities or talents such as perfect pitch or high IQ. The Synesthesia Battery is a test for a number of colour-related types of synaesthesia. And remember, the whole concept of the “super-recognizer” is a thing that some academics only recently came up with. I believe the official view of super-recognizers is that they (we?) are only the extreme end of a bell curve representing natural variation in one area of ability. I personally believe that super-recognizers are probably qualitatively different from others rather than merely being quantitatively different – I believe super-recognizer ability could be an effect of synaesthesia or local hyperconnectivity, but I still wouldn’t like to say at what cut-off point in test scores super-recognizers can be identified.

P.S. December 2011

It appears that the CFMT is no longer available from two of the websites that I have linked to, and the only freely available online access to the CFMT is probably through a research study done by researchers at the MIT:  http://facetoface.mit.edu/   If you live in or near London then you might be able to go along to the superrecognizers study currently being conducted at the Science Museum by researchers from the Uni of East London and do some tests as study subjects:  http://www.superrecognizers.com/

I have tried contacting professional psychologists in WA who have private practices to see if any of them can offer access to any face recognition testing. I found a general lack of comprehension, and it appears that they generally haven’t heard of prosopagnosia, let alone super-recognizers. Apparently there is some face memory or face recognition test that is an element of an IQ test and/or vocational aptitude testing. I have not been given any details about this test or tests, and God only knows if it is of any value. There are a number of old face recognition tests, but it appears that the CFMT and the BTWF tests are the only ones that are cheat-proof and currently used by face recognition researchers. I’ve never heard of either of these tests being used as elements of vocational or IQ testing, but who knows?

The idea that superior face recognition ability could be important in employment is an idea that has been proven to be true in the case of police work, a documented example would be the elite squad of super-recognizer police officers in London’s Metropolitan Police force, which was the subject of an interesting article in the UK’s Sunday Times in November 2011. Despite the proven utility of superrecognizers in at least one important job, the idea that this is a valuable work skill appears to be an idea well ahead of our times here in sleepy Western Australia, where our time zone is two years behind the rest of the Anglophone world (except in mining). There is not only the issue that we are behind the times here, there is also the big issue of the Dunning-Kruger effect.

The Dunning-Kruger effect is a cognitive bias recognized in psychology “in which unskilled people make poor decisions and reach erroneous conclusions, but their incompetence denies them the metacognitive ability to recognize their mistakes”, to quote from Wikipedia. The Dunning-Kruger effect can also negatively affect capable people, in the opposite way “Actual competence may weaken self-confidence, as competent individuals may falsely assume that others have an equivalent understanding.” So incompetent people can have unjustified self-confidence while more capable people can under-estimate their relative superiority as a result of being ignorant or deceived about the actual level of ability of others. I would argue that the Dunning-Kruger effect is very applicable to face recognition ability. I’m sure there are many people with milder developmental prosopagnosia who don’t understand their disability, and I know myself that I never thought of myself as having superior face memory until I tried some online face recognition tests in the pursuit of any clue to the mystery of The Strange Phenomenon. I believe the full extent of the problem goes beyond not understanding one’s self. I believe that only a super-recognizer is able to understand the possibilities and advantages of this very specific type of superior visual processing. I’ve found that many people who I’ve spoken to about super-recognizers doubt that any human could perform better than current face recognition technology, an assumption that appears to be incorrect, and is probably based on ignorance. It should be clear to anyone that good face recognition ability is an essential requirement in policing and has uses in security and detective work, but I doubt that most people would guess that super-recognizing could have medical applications, can be more useful than current face recognition technology and might also have applications in tasks that involve identifying kinship relationships, possibly to do with tracing lost relatives or family history research. To independently realise all of this, a person would have to see what a super-recognizer sees, an experience that is denied to most people. If most people, including most psychologists, have no idea of the possible utility of super-recognizing, why would anyone bother testing for it or identifying it?

If you suspect that you might be a super-recognizer, and wish to have this tested and certified by a professional psychologist or have it verified by participating in university research done by a recognized expert in the field of face recognition, I hope you live in London. Your only other option appears to be taking a look at the MIT study, and taking a screen-shot print-out of any test results. Good luck!

References

Banissy, Michael J., Garrido, Lucia, Kusnir, Flor, Duchaine, Bradley, Walsh, Vincent & Ward, Jamie Superior Facial Expression, But Not Identity Recognition, in Mirror-Touch Synesthesia. Journal of Neuroscience. February 2, 2011, 31(5):1820-1824. doi:10.1523/JNEUROSCI.5759-09.2011 http://www.jneurosci.org/cgi/content/abstract/31/5/1820

Banissy, Michael J., Walsh, Vincent & Ward, Jamie Enhanced sensory perception in synaesthesia. Experimental Brain Research. 2009 Jul;196(4):565-71. Epub 2009 Jun 17. http://www.springerlink.com/content/406581u3507un270/   http://www.ncbi.nlm.nih.gov/pubmed/19533108

Grimston, Jack Eagle-Eye of the Yard can spot rioters by their ears. Sunday Times, The, 20.11.2011, p12,13-12,13, 1; Language: EN Section: News Edition: 01 EBSCOhost Accession number 7EH53940939 http://www.thesundaytimes.co.uk/sto/  This interesting article is behind a paywall, so you might try EBSCOHost from your local piblic library.

Mitchell, Kevin J. Curiouser and curiouser: genetic disorders of cortical specialization. Current Opinion in Genetics and Development. 2011 Feb 4. [Epub ahead of print]http://www.ncbi.nlm.nih.gov/pubmed/21296568?dopt=Abstract

Russell, Richard, Yue, Xiaomin, Nakayama, Ken and Tootell, Roger B. H.  Neural differences between developmental prosopagnosics and super-recognizers.Journal of Vision. August 6, 2010 vol. 10 no. 7 article 582 doi: 10.1167/10.7.582http://www.journalofvision.org/content/10/7/582.short

Russell R, Duchaine B, Nakayama K Super-recognizers: people with extraordinary face recognition ability. Psychonomic Bulletin and Review.2009 Apr;16(2):252-7. http://pbr.psychonomic-journals.org/content/16/2/252.full.pdf

Wikipedia contributors Dunning–Kruger effect. Wikipedia, The Free Encyclopedia. http://en.wikipedia.org/w/index.php?title=Dunning%E2%80%93Kruger_effect&oldid=466983876

Tests

MIT’s Face to Face Online Study http://facetoface.mit.edu/

“Test My Memory” from Faceblind.org – used to offer the CFMT in the past http://www.faceblind.org/facetests/

“Test My Brain” – used to offer the CFMT in the past, could try the 5 minute “Famous Faces” test http://www.testmybrain.org/

BBC Science Face Memory Test – this test no substitute for the CFMT http://www.bbc.co.uk/science/humanbody/sleep/tmt/

The Synesthesia Battery http://www.synesthete.org/

Further reading about my dealings with psychology researchers:

Science Week 2011 – The world of science and me in the past year   https://superrecognizer.wordpress.com/2011/08/17/science-week-2011-%E2%80%93-the-world-of-science-and-me-in-the-past-year/