“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?

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.

My office in Jersey City is in an old house, on the left-hand side of a one-way street going down a steep hill. Several of the buildings and some of the other houses belong to my college, but many (including a very large apartment building across the street with aging cement steps) do not. Parking is at a premium; there’s no garages to speak of for the residents of the apartments so the street is constantly lined with rows of cars, a beat-up yellow school bus with the windows painted white, delivery trucks. Students try to park on the street and the whole situation is compounded because our parking garage has been closed for repairs. I’m extremely fortunate to be able to park in the front of the house housing (yes, that was intentionally written) my office.

Sometimes someone unknown parks in the space and I have to squeeze my car as close as I can to the front steps. I always figure there’s a 50-50 chance of this happening as I make the right turn off Kennedy Boulevard. Thursday the parking gods seemed to be smiling on me and I bumped the car over the driveway which does not appear to be a driveway, as the sidewalk is not slanted and the words “DRIVEWAY DO NOT PARK” look more like “VEWAY O NO RK.” I pulled in, checked to make sure that Charlie’s teacher hadn’t emailed as I went up the steps, and gathered numerous things and tried to start some other things and went to class.

When I came back around noon, a car was perfectly parked between the lines edging “VEWAY O NO RK.”

Readers of my earlier blog, Autismland, may remember that there’s only one event, one time, that I orient my whole day around, the moment when Charlie gets off the yellow school bus. I’ve worked for most of Charlie’s life; as Jim’s always worked much further away and for longer hours, it’s generally been me who meets the bus. Class schedules, office hours, meetings: Everything has to be scheduled around When the Bus Returns and, as we’ve never lived close to where I’ve worked, I like to leave time plus to make sure I’m home. In past years, my commute was rendered much more interesting, and nerve-wracking, due to calls from the school nurse (”Mrs. Fisher, Charlie bumped his head and I applied ice”) or the principal, or hurried consultations with our home ABA therapists. Fortunately for me, by the time New Jersey passed its no-talking-on-the-cell-phone-while-driving law, Charlie was well settled into his current school placement. Indeed, as Charlie’s done better, I’ve been able to do more at work—meaning that I’ve more meetings, more appointments with students—more reasons to find myself literally running to get home.

I called Security soon as I got into my office. I had to keep suppressing the urge to see if the car blocking my car was gone. At 1pm, it still was, and I had to be gone in no more than an hour to make it back meet the Charlie on his bus. I felt distinctly annoyed at myself for being so distracted: My anxiousness wasn’t going to make it any easier for Security to track down whose car it was and I really needed to go over the rules of elision when scanning Latin poetry. Class ended; the car was still there. I called Jim; I knew he was flying back from California, but the sound of his voicemail message was reassuring. I graded a stack of quizzes; car still there, Security thought they had found the owner, but it turned out not to be the right person. My co-director started to talk about how we should make sure to keep the aesthetics of the house in mind when we ordered some new equipment and I was at first really annoyed, then reminded myself, he’s probably trying to take your mind off that car.

All the while I felt a little ridiculous. But what if the bus pulled up to an empty parking lot?

Last year when her book Louder Than Words appeared, Jenny Mother Warrior-now-on-a-mission-from-God-once-a-Playboy-Playmate McCarthy spoke frequently about how her “mommy instinct” guided her in healing her son Evan from autism. Some kind of instinct was operating in me in full force Thursday afternoon, though it was something a bit different than that internal voice telling McCarthy what to do. My instinct was saying, you’d better get that other car out of the way or it’s gonna be not so good. I went outside and started to see if there was just enough space to go between the cement planter and the other car over the sidewalk, provided I managed to turn my car (it’s not huge but it’s not small) around.

At that point Security appeared and a student who I’ve known for a while. We noticed a photo album in the back of the car—-my student recognized someone she (and I, and the Security guard) all knew, and soon someone appeared and moved their car.

Phrew. And I even had time to finish grading more quizzes and to speak in a non-harried manner to my co-director.

And to find a UPS truck parked behind my car when I went to back out.

Its engine was still running so I knew the driver had to be nearby but, nerves rising again (and kicking myself for not just leaving a few minutes ago), I started to back out and back in and turn this way and that until my car was turned 180 degrees around (all while students were walking by and saying, “What is she doing?”). The drive appeared and apologized just as I had turned the car around and bounced it onto the sidewalk. I drove away feeling more than a bit sheepish, extremely relieved, and reminding myself to keep calmer and carry on, next time.

I made it back to greet an on-edge boy: Charlie told me “Mom, I’m tired” (after prompting from a Language Master card) and it hadn’t helped that he seemed to be feeling extra-sensitive to sound and ended the day on a rough note when the noise level rose in the classroom and Charlie had had it. His teacher emailed me and I emailed back and Charlie had a big snack, sprawled in his chair become a couch, and watched videos on my laptop while I did some reading for Friday’s class and cleaned the kitchen. Charlie practiced cello—he’s starting to learn how to press a finger on the strings for different notes—-and we went for an easygoing walk. Charlie needed no urging to hop into the car and pick up Jim.

Sure, a mother’s got to do what she’s got to do but a little patience (rather than rage and a fighting attitude) can go a long way.

And being able to back a stationwagon out of a tight space.

Scientists have previously posited that autism’s cause is at the synapse. Mutations in the genes for neuroligins—which ensure that signal transitions between nerve cells function—-have been suggested as a cause of autism.  Neuroscientists at Children’s Hospital Boston have identified what is being called a “master switch” that organizes the functioning of inhibitory synapses. Synapses are the connections between brain cells and enable communication among neurons; they’re essentially for virtually all brain functions, such as memory, sensory perception, motor coordination, learning.

The “master switch” is Npas4, which is a transcription factor, a “switch” that activates or represses other genes; it regulates over 200 genes that play a role in “calming down” over-excited cells. From today’s Science Daily:

At birth, the rapidly developing brain teems with excitatory synapses, which tend to make nerve cells “fire” and stimulate their neighbors. But if the excitation isn’t eventually balanced, it can lead to epilepsy, and diseases like autism and schizophrenia have been associated with an imbalance of excitation and inhibition. The creation of inhibitory connections is also necessary to launch critical periods — windows of rapid learning during early childhood and adolescence, when the brain is very “plastic” and able to rewire itself.

Researchers bred mice that lacked Npas4; these mice appeared anxious and hyperactive as were also prone to seizures and neurological problems. Scientific American has more to say and also notes that findings such as these can be used to “identify people who are genetically at risk for neurological disorders and develop new drugs to prevent and treat them.”

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.

A new study highlighted in the September 16th Scientific American looks at eye tracking to investigate the “unusual social preferences and behaviors in people with Williams syndrome and autism.” Just as autism is associated with “social withdrawal,” so is Williams syndrome characterized by a “propulsion towards social stimuli and interactions with people” and towards being “hyper-social.” Psychologist Deborah Riby and Peter Hancock at Newcastle University found that the eye tracking movements of autistic persons and of those with Williams syndrome differ significantly from the norm:

Previous work has shown that people with autism pay less attention to socially relevant parts of scenes. For example, a person with autism who is viewing a movie of people in a room will spend a relatively large amount of time looking at non-social objects—such as chairs—and is more likely to look at the mouths or bodies of the characters than their eyes. Riby and Hancock expand on these experimental paradigms by asking participants to view good quality color photographs of a range of different social situations. For example, they had subjects with autism and Williams syndrome look at pictures of a family sharing a meal, a group of teenagers chatting, and a bride and groom on their wedding day. While viewing the photographs, participants’ eye movements were monitored and recorded using a state-of-the-art eye tracker.

…… As expected, people with autism spent less time viewing faces. In contrast, those with Williams syndrome spent significantly more time peering at faces than is typical, and they paid particular attention to the eyes. Eyes are important in allowing us to understand other peoples’ mental and emotional states. Riby and Hancock suggest that a lack of attention to eyes in autism, and a contrasting abundance of attention in Williams syndrome, may help explain why people with Williams syndrome tend to be so much better than those with autism in understanding gaze cues and expressions.

Or could it be that, rather than autistic individuals simply not being as good at “understand gaze cues and exressions,” they are focusing (even hyper-focusing) on different sorts of objects and information; that maybe the eyes don’t have it?

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.

Laughter is the best and possibly the oldest medicine, as recently noted on BrainBlogger:

Laughter is a naturally occurring response to humorous stimuli and is a rather easily implemented and cost-effective clinical tool. Some lay publications even report that laughter is equivalent to aerobic exercise. It is true that laughter can increase blood flow, stimulate circulation, contract muscle groups, and improve respiratory function. But, these effects are short-lived and laughter is followed by a period of muscle relaxation, decreased heart rate, slowed respiration, and decreased blood pressure. This period may last as long as 45 minutes. Some research has shown laughter causes a decrease in the levels of the stress hormones epinephrine, norepinephrine, and cortisol. This may explain the relationship between laughter and increased immune function, which leads to overall health benefits. Scientific data supporting the extent and actual benefit of laughter is lacking, however, and some studies have yielded conflicting results.

Impasse at an IEP meeting—-an elaborate mess of all messes across the kitchen floor, the hall carpet, and nearing the bathroom—-crazy moment in line at the grocery store: Laughter soothes, and salves. (And for a laugh, go to BrainBlogger for two the world’s oldest jokes.)

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.