“Faceblindness” has been associated with autism, as written about by Donna Williams and Joe at This Way of Life. About two percent of the population has faceblindess or congenital prosopagnosia, according to today’s Science Daily. A team of scientists has been able to devise a biological explanation for faceblindness. In those who have it,

“there was a reduction in the integrity of the white matter tracts in the brains of individuals with congenital prosopagnosic. Moreover, the extent of the reduced white matter circuitry was related to the severity of the behavioral impairment.

White matter is one of the three main solid components of the central nervous system. The white matter is the tissue through which messages pass between different areas of grey matter within the nervous system. People with congenital prosopagnosia are not able to recognize faces, while the ability to recognize other objects may be relatively intact.

This discovery of reduced white matter circuitry could also lead to further understanding of other neurodevelopment disorders, such as developmental dyslexia, in which the same underlying neural alterations might be present. The findings are also important as congenital prosopagnosia is, in many cases, inherited and so studies of this sort can help us understand the relationship between genetics and cortical development.

I’m honestly not sure whether Charlie has “congenital prosopagnosia” or now. He’s never forgotten the name of a therapist or teacher—-he pauses when we reel them off to him (there’s been a lot). But it might be their voices or the way their held their bodies, or a certain colored shirt they wore one day that he remembers them by. Faces—voices—body posture—height—a particular article of clothing—names: How do you recognize people?

While studying drug abuse and addiction, researchers at the Ohio State University College of Medicine have found a link between nicotine addiction and autism. Neurexins are proteins that, along with neurologins, are thought to play a key role in the formation and functioning of synapses, of connections between nerve cells. In the new study, a protein made by the neurexin-1 gene was found to have a very particular role, as noted in today’s Science Daily:

The discovery identified a defining role for a protein made by the neurexin-1 gene, which is located in brain cells and assists in connecting neurons as part of the brain’s chemical communication system. The neurexin-1 beta protein’s job is to lure another protein, a specific type of nicotinic acetylcholine receptor, to the synapses, where the receptor then has a role in helping neurons communicate signals among themselves and to the rest of the body.

This function is important in autism because previous research has shown that people with autism have a shortage of these nicotinic receptors in their brains. Meanwhile, scientists also know that people who are addicted to nicotine have too many of these receptors in their brains.

“If we were to use drugs that mimic the actions of nicotine at an early time in human brain development, would we begin to help those and other circuits develop properly and thus significantly mitigate the deficits in autism? This is a novel way of thinking about how we might be able to use drugs to approach autism treatment,” said Rene Anand, associate professor of pharmacology in Ohio State University’s College of Medicine and principal investigator of the research.

“It would not be a complete cure, but right now we know very little and have no drugs that tackle the primary causes of autism.”

Cholinergic agents are drugs which play a role in countering nicotine addiction in the brain. It’s speculated that these medications, after “retailor[ing],” might help autistic individuals by increasing the level of neurexin-1 beta protein in their brains. How this might specifically help autistic individuals is only alluded to—-perhaps it might be more helpful to think about how medications can, in some cases and in discrete ways, help some autistic individuals, over and above focusing on the notion of a drug that would “cure autism“?

The research was presented today at the Society for Neuroscience meeting in Washington, D.C.

I’ve been teaching some of my Latin students how to scan Latin poetry—-how to figure out the meter by identifying long and short syllables, elisions of vowels, when there’s a pause for a breath (caesura). One student commented that he likes scanning more than translating and it is a different sort of way of dealing with a language, looking at the sounds and syllables of words and not so much their meanings.

I talk about scanning as attending to the music of the poetry, to its sounds, more than to its sense. I’ve often noted that Charlie’s always had an affinity for music. That’s the impetus behind efforts to teach him to play the piano and the cello. While Charlie’s long struggled to learn to read words, he figured out how to read notes and the basics of sheet music (for both instruments) quite easily. He and Jim have an ever-growing repertoire of call and response songs and I’ve often been able to figure out what Charlie is saying (he doesn’t always fully articulate his syllables) by the intonation, pitch, and rhythm of his voice. I’ve also noted that he often seems to figure out what we’re saying based as much on those musical qualities.

The October Scientific American has a brief overview of a Jaunuary letter in Nature, on ultra-fine frequency tuning revealed in single neurons of human auditory cortex. It seems that human’s brains are “wired” to hear fine discriminations of sound, down to the 12th of an octave.

The study revealed that groups of exquisitely sensitive neurons exist along the auditory nerve on its way from the ear to the auditory cortex. In these neurons natural sounds, such as the human voice, elicit a completely different and far more complex set of responses than do artificial noises such as pure tones. In this mixed environ ment humans can easily detect frequencies as fine as one twelfth of an octave—a half step in musical terminology.

The vexing question is: Why? Bats are the only mammal with a better ability to hear changes in pitch than humans do. Predatory species such as dogs are not nearly as sensitive—they can dis criminate resolutions of one third of an octave. Even our primate relatives do not come close: macaques can resolve only half an octave. These results suggest the fine discrimination of sound is not a necessity for survival.

It’s been several months since Charlie had his last piano lesson when his teacher moved away and we don’t practice nearly as much as we used to. Nonetheless, after a little warming up, Charlie’s pretty much back in sync with reading and playing. One of the last things his teacher taught him was to read and play sharps; Charlie caught on easily to this, and often correct himself if he plays a natural note when there’s a sharp, and quickly moves his finger to play the black key a half-step up.

There’s been a lot said and studied about the effects of studying music and playing instruments on children’s learning and intelligence. I don’t have any hard data, but certainly music’s been a key tool for communicating, teaching, and understanding with Charlie, and he with us. I know he can hear a 12th of an octave and this further leads me to note that Charlie hears everything said around him, and that (as we constantly have to remind those who don’t know him) understands most everything he hears. He’s a much better listener than some might think.

(And, perhaps, than many of us who don’t have any “communication disabilities.”)

A new research study states (per the October 15th Science Daily):

People with autism-related disorders are less likely to make irrational decisions, and are less influenced by gut instincts.

The study is published in the Journal of Neuroscience, and was funded by the Wellcome Trust. Professor Ray Dolan’s group at the Wellcome Trust Centre for Neuroimaging at UCL (University College London looked at how the “framing effect”—according to which how we respond to a problem depends on how the problem is presented—affects decision-making in individuals with autism spectrum disorders:

Participants in the study performed a task involving deciding whether or not to gamble with a sum of money. For example, they would be given £50 and be presented with two options: option A was to keep £20; option B was to gamble, with a 40% chance of keeping the full £50 and a 60% chance of losing everything. This version was known as the “gain frame”.

At other times, the participants would be presented with the “loss frame”, the only difference being that option A was phrased in terms of losing money. In other words, when given £50, option A was to lose £30 of their initial amount; option B was the same as above.

Despite option A being essentially the same in both gain and loss frames, the researchers found that the “control” participants – those without ASD – were more likely to gamble if the first option was to “lose” rather than “keep” money. For participants with ASD, this effect was much smaller, suggesting that this latter group was less susceptible to the framing effect – in other words, they were less likely to be guided by their emotions into making inconsistent or irrational choices.

“People with autism tended to be more consistent in their pattern of choices, their greater attention to detail perhaps helping them avoid being swayed by their emotions,” says Dr Neil Harrison.

From Science Daily’s description of the study, it seems that the ASD participants focused on the number amounts of the money, while those without ASDs attended more to the frame, to whether they were said to be winning or losing. The participants without ASDs relied more on context and contextual details to make their decisions. It’s often the case that I’ve observed my son doing things that seem not to “make sense,” like putting these yogurt containers like this, based on the similarity of their shapes. I suspect he’s recalling the rules about matching and patterns that he’s learned and not attending to the words and pictures on the containers.

Go here to read an abstract of the study, which is entitled Explaining Enhanced Logical Consistency during Decision Making in Autism.

Tracking eye movements has been described as a new way to detect autism in infants; researchers have also found that, when autistic children look at faces with animated expressions, they tend to focus on the eyes and mouth. A study published in the Archives of General Psychiatry has found that determining whether a toddler focuses on another person’s mouth or eyes can predict the level of disability in the child. From Science Daily:

After the first few weeks of life, infants look in the eyes of others, setting processes of socialization in motion. In infancy and throughout life, the act of looking at the eyes of others is a window into people’s feelings and thoughts and a powerful facilitator in shaping the formation of the social mind and brain.

The scientists found that the amount of time toddlers spent focused on the eyes predicted their level of social disability. The less they focused on the eyes, the more severely disabled they were. These results may offer a useful biomarker for quantifying the presence and severity of autism early in life and screen infants for autism. The findings could aid research on the neurobiology and genetics of autism, work that is dependent on quantifiable markers of syndrome expression.

Warren Jones, a research scientist from the Yale School of Medicine Interdepartmental Neuroscience Program and the Yale Child Study Center, suggests this as why a child who focuses on looking at the mouth rather than the eyes may be indicative of autism:

Our working hypothesis is that these children’s increased fixation on mouths points to a predisposition to seek physical, rather than social contingencies in their surrounding world. They focus on the physical synchrony between lip movements and speech sounds, rather than on the social-affective context of the entreating eye gaze of others………..These children may be seeing faces in terms of their physical attributes alone; watching a face without necessarily experiencing it as an engaging partner sharing in a social interaction.”

Interesting the distinction here between mouth and eyes, between a tendency to seek “physical, rather than social contingencies” when looking around at the world.

Researchers have also found that the parents of autistic children tend to evaluate facial expressions in ways similar to autistic individuals , and am now watching to see what Charlie’s eyes are drawn to.

Vaccination rates for children in the UK are still not at a high enough rate to offer maximum protection against infectious diseases such as the measles and mumps, today’s Telegraph reports. According to the NHS, 85% of children have received the MMR shot this year, the same rate as last year:

experts warn that to achieve so-called “herd immunity”, where so many children are immunised that it is extremely difficult for an outbreak of measles to take hold, 95 per cent need to be vaccinated.

Professor David Salisbury, the Government’s director of immunisation, warned “MMR uptake is still not sufficient to remove the serious threat of measles outbreaks.

“Parents who have not had their children vaccinated with the MMR vaccine should do so now.”

He added that the evidence on MMR was “absolutely clear - there is no link between the vaccine and autism and delaying immunisation puts children at risk”.

And one supposes that, with all this talk of Mother Warriors by Jenny “Green Our Vaccines” McCarthy, unfounded worries and fears about vaccines somehow being linked to autism will continue, and measles cases will continue to rise.

To end this post not on a vaccine note: Research published in the September 15th Gene and Development looks at the structure of neurons in those with tuberous sclerosis complex (TSC). As about half of those with TSC have autism, it’s thought that studying the “miswiring” of their brains might provide clues about how autism develops, as noted in Medical News Today:

TSC causes benign tumor-like lesions, which can affect every organ in the body and are called tubers when they occur in the brain. In the study, Sahin, He, lead author Yong-Jin Choi, PhD, and colleagues show in mice that when the two genes linked to the disease, TSC1 and TSC2, are inactivated, neurons grow too many axons (the long nerve fibers that transmit signals). Normal neurons grow just one axon and multiple dendrites (short projections that receive input from other neurons). This specification of axons and dendrites, known as polarity, is crucial for proper information flow.

“We think if initial polarity is not formed properly, the result will be abnormal connectivity in the brain,” says Sahin, who also directs the clinical Multi-Disciplinary Tuberous Sclerosis program at Children’s.

…………….

“People have started to look at autism as a developmental disconnection syndrome - there are either too many connections or too few connections between different parts of the brain,” Sahin says. “In mouse models of TSC, we’re seeing an exuberance of connections.”

Researchers posit that it might be possible to repair or restore damaged axons that have been damaged or injured.

My son doesn’t have TSC and I don’t know if this research might have any affect on treatments for him, but Sahin’s refernce to autismand “too many connections or too few connections between different parts of the brain” is something I sense going on with my son, whose brain seems—if you will—”supercharged” at times, and other times, not “charged” or “charging.” And that’s not because of a vaccine, or something in a vaccine.

Kamila and Henry Markram of the Swiss Federal Institute of Technology in Lausanne have developed a theory that autism is caused by a “supercharged” brain, today’s Telegraph reports. The Markrams posit that autistic individuals—far from earlier notions that they were without emotions and the capacity to feel—-”‘perceive, feel and remember too much’” and very intensely:

Faced with this “intense world”, autistic infants withdraw, with serious consequences for their social and linguistic development, she added.

Repetitive behaviours such as rocking and head-banging, meanwhile, can be seen as an attempt to bring order and predictability to a “blaring world”.

Most of the theories surrounding autism involve the idea of an underperforming brain but the Markrams believe the opposite is true with the brain being “supercharged”.

Their research, which included studying their own son who is borderline autistic, is backed up by one of the most replicated findings in autism which is abnormal brain growth.

At birth the brains of autistic children are small or normal sized, but grow unusually quickly.

By age two to three, when symptoms of autism occur, their brain volume is roughly 10 per cent larger than average.

Experiencing sensory stimuli and even feelings and thoughts and emotions “intensely”: This describes much about how my son Charlie seems to interface with the world. He often seems to seek out strong tastes and smells and we’ve long connected his love of the ocean and swimming with a need for the deep pressure provided by the water; Charlie often wraps himself in blankets and especially fleece. In regard to feelings, even today, Charlie’s teacher noted that he careened from silliness and smiles to crying out in deep nervousness from moment to moment. According to the Markams’ theory, autism is all about feeling too much, not at all not enough.

An article in the September 10th New England Journal of Medicine entitled Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes describes the associations between a microdeletion at 1q21.1 and impairments including mental retardation associated with microcephaly, cardiac abnormalities, or cataracts. A microdeletion at 16p11.2 is associated with susceptibility to mental retardation or autism and was discussed in the NEJM in February. In an editorial accompanying the new NEJM study, David H. Ledbetter, Ph.D., of the Department of Human Genetics, Emory University, Atlanta, notes that a “technologic revolution in human cytogenetics” has made these discoveries possible, thanks to “genomewide assessment of copy-number alterations (deletions and duplications)” that are performed “by means of high-density array technologies, hereafter referred to as cytogenetic arrays.”

That is, new technologies are enabling us to discover “new syndromes caused by deletion of genomic segments of 500 kb to 2 Mb in size” and Ledbetter concludes that pediatricians and clinicians “like researchers, can now shift to a ‘genotype first’ model of diagnosis for children with unexplained developmental abnormalities”—-doctors now have more tools at their hands to help make and/or confirm a diagnosis in a child with developmental delays.

The study’s authors note that 1q21.1 rearrangements are associated with a “broad spectrum of disorders” and further they “dispel the notion that such rearrangements will necessarily follow the one-gene, one-disease model.” As PhysOrg notes,

The authors recognize that the diversity of disorders and the lack of a distinct syndrome accompanying 1q21.1 rearrangements will complicate genetic diagnosing and counseling. They suggest that clinicians caring for patients who have unexplained developmental abnormalities consider the identification of a 1q21.1 rearrangement in a patient a significant clinical finding and probably an influential genetic factor contributing to the patient’s disorder. Evaluating the patient’s family members may reveal apparently unaffected or mildly affected relatives carrying the same rearrangement. Keeping in mind the many possible repercussions of having this rearrangement in the chromosome, the authors suggest that young carriers should be monitored over the long term for the emergence of learning disabilities, autism, schizophrenia, or other neuropsychiatric disorders.

This study, the authors said, adds 1q21.1 as a chromosomal locus to the growing list of structural variants that might eventually be included in genetic screening panels for people with developmental delays or neuropsychiatric diagnoses.

“Clinical diagnosis in patients with these lesions may be most readily achieved on the basis of genotype rather than phenotype,” as the study’s authors conclude. The study both shows the “importance of rare structural variants in human disease” and also reveals some of the challenges, namely:

First, large samples of patients and controls are required to show that a specific variant is pathogenic. Although there have been several reports of patients with 1q21.1 deletions in studies of specific diseases, our study shows that recurrent 1q21.1 microdeletions are significantly associated with pediatric disease, through systematic comparison of the frequency of rearrangements in affected and unaffected persons. Second, detailed clinical evaluations of affected persons disclosed a much broader spectrum of phenotypes than anticipated, dispelling any notion of syndromic disease. While this article was being reviewed before publication, two groups reported enrichment of 1q21.1 deletions in persons with schizophrenia; they report deletions in 0.26% of patients with schizophrenia, as compared with our finding of deletions in 0.5% of persons with developmental abnormalities. These results confirm the association of 1q21.1 rearrangements with a broad spectrum of phenotypes but also further dispel the notion that rare copy-number variants will necessarily follow the one gene (or one rearrangement)–one disease model.

Researchers hope that such findings will lead to more accurate diagnosis (via genetic testing), and also “‘more effective treatments,’” as Professor Ledbetter is quoted (in HealthScout).

The new study further attests to the complexity of autism genetics, and to deep-running variance from individual to individual—there’s no one “autism gene” to be found.

Body ownership is the feeling that your body belongs to you and is there constantly; vision, and other sensory signals, contribute to it. A sense of body ownership is often disrupted, the September 2nd Science Daily notes, in “a range of different neurological, psychiatric and psychological conditions, such as after a stroke, in autism, epilepsy, anorexia, and bulimia.” Body awareness and body ownership are two things that, I suspect Charlie has not always had, or had in the way that a “typical” child might. We had to teach him to put his hands in front of him to catch his fall and I’ve wondered if, when Charlie (as he rarely does now) bangs his head, he’s sometimes trying to remind himself that it is his own head.

An experiment involving a rubber hand has been used to explain body ownership; from the Wellcome Trust:

In the ‘rubber hand illusion’, someone can be made to believe that a fake hand being rubbed in front of them is their own, if their own (hidden) hand is rubbed at the same time.

The trick is associated with activity in several areas in the brain, particularly the ventral premotor cortex. The significance of this activity is unclear, however – the phenomenon could mainly be due to the powerful effects of the visual system.

Researchers from Oxford University have also found that a physical response occurs as well as one in the mind, today’s Science Daily notes. Participants actually feel like they “own” the rubber hand and incorporate it in their sense of self and “disown” their own hand, as measured by a drop in temperature to their own hand:

People suffering from complex regional pain syndrome can experience significant distortion in their sense of their physical self. They can disown a limb, feeling that it does not belong to them or that a limb is bigger than it really is.

Many conditions characterised by distortions of body image or ownership are also characterised by a disruption of temperature in one side of the body or a single limb.

‘We wanted to see if we could replicate any of this experience. We wanted to see if we could manipulate our sense of ownership of our bodies and reproduce a temperature disruption,’ says Dr [G Lorimer] Moseley [of the Department of Physiology, Anatomy and Genetics at the University of Oxford]. ‘That is exactly what we saw.’

Tito Rajarshi Mukhopadhyay has also written about his mind and body being disconnected; he gives an examples of seeing a fan and knowing that it would hurt if he touched the moving blades, and his hand still touching them. And the title of his most recent book is indeed, How Can I Talk If My Lips Don’t Move? Inside My Autistic Mind.

As of this Wednesday, the fall semester is underway at my college and I’m explaining how to pronounce v as w in Latin to one class, and leading another in reciting and writing the 24 letters of the Greek alphabet. I’m teaching early in the morning thanks to Charlie being in middle school, which starts much earlier than his elementary school. I’m a quite energetic teacher, a necessary feature (I think) if you’re going to instruct college students in “dead languages” with complicated grammatical systems. At some point, some student’s attention will seem to waver, as indicated by eyes focused out the window rather than on the dry erase board, by a student saying “huh” when I call on their name.

I used to just think, ok, this student’s not absorbing anything—-not paying attention. Then I had Charlie, Charlie was diagnosed with autism, we started to figure out that he needed to be taught in very specific ways, and some, oh, 8-plus years of teaching Charlie ensued; some 8-plus years of me learning and relearning, students learn in different ways. Indeed, students show they’re focused and paying attention in different ways: It’s not every student who’s going to be sitting up straight in her or his seat, eyes on the dry erase board and book open. Certainly, I’ve time and again realized that Charlie is more than aware of what’s going on around him and of what’s being said, even when his body posture and eyes looking to the side and head down would suggest he’s not.

Yesterday’s Science Daily reports on a new study in the August 28th Neuron, Subliminal Instrumental Conditioning Demonstrated in the Human Brain:

“Humans frequently invoke an argument that their intuition can result in a better decision than conscious reasoning,” says lead author Dr. Mathias Pessiglione from the Wellcome Trust Centre for Neuroimaging at the University College London. “Such assertions may rely on subconscious associative learning between subliminal signals present in a given situation and choice outcomes.” For instance, a seasoned poker player may play more successfully because of a learned association between monetary outcomes and subliminal behavioral manifestations of their opponents.

Researchers used functional magnetic imaging to study the brain circuitry associated with subliminal learning—learning occurring without the brain consciously processing contextual clues. It was found that, even when the brain does not consciously process such clues, “subjects nonetheless developed a significant propensity to choose cues” that were paired and associated with monetary rewards, even when the cues were abstract and could not be seen. As the abstract to the study notes, “even without conscious processing of contextual cues, our brain can learn their reward value and use them to provide a bias on decision making.”

Regarding being conscious or not while trying to learn something: So often Charlie has said a sentence, a word, 100%-plus clearly once, or sight-read a piece on the piano; when asked to say the same thing again or play a few measures again, he is, more often than not, unable to do what he just did. It’s as if, when he’s consciously trying to do something (and particularly something that he has not mastered, or that is new), some “interference” ensures and the words are garbled, he hits the wrong notes. Charlie often does best on the first attempt and without being too aware that he’s trying when, perhaps, he’s relying on intuition. He knows when the pressure is on for him to do something—to perform.

For all that eye contact may be overrated, college students do need to learn to look up, look people in the eye, and speak clearly and sufficiently loudly to be heard, and Charlie too, at times. But perhaps there’s more than one way of showing you’re interested and listening, and being there.